ID
stringlengths 13
17
| question
stringlengths 88
1.13k
| answer
stringlengths 6
156
| reference_sequence
stringlengths 4.1k
4.1k
| variant_sequence
stringlengths 4.1k
4.1k
|
|---|---|---|---|---|
Task1_train_24300
|
This gene mutation involves KRT14 (keratin 14) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Epidermolysis bullosa simplex
|
TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG
|
TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTCGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG
|
Task1_train_24301
|
Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
|
TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG
|
TCTGTCTCATACCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTGGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTG
|
Task1_train_24302
|
This alteration in KRT14 (keratin 14) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; not provided
|
CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA
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CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGAGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA
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Task1_train_24303
|
Consider a variant on Chromosome 17 in gene KRT14 (keratin 14). Determine its clinical classification and disease relevance.
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Pathogenic; Dermatopathia pigmentosa reticularis
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CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA
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CCTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGTGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCA
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Task1_train_24304
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Given this variant in gene KRT14 (keratin 14) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24305
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A mutation found in KRT14 (keratin 14) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24306
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This mutation is located in gene KRT14 (keratin 14) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Inborn genetic diseases
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24307
|
Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epidermolysis bullosa simplex
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24308
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Gene KRT14 (keratin 14) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epidermolysis bullosa simplex, Koebner type
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24309
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Here is a variant affecting KRT14 (keratin 14) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Epidermolysis bullosa simplex 1A, generalized severe
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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CTGGAATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAA
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Task1_train_24310
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A genetic alteration is present in KRT14 (keratin 14) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; not provided
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ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTG
|
ATGACCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTG
|
Task1_train_24311
|
A variant was discovered in gene KRT14 (keratin 14), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; not provided
|
CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAG
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CCCCAGAGAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAAGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAG
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Task1_train_24312
|
Here is a mutation in KRT14 (keratin 14) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; not provided
|
GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGA
|
GAAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGTATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGA
|
Task1_train_24313
|
Consider this mutation in KRT14 (keratin 14) on Chromosome 17. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGAC
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AAAAGGTATGAGACACCCATCCTGATCACAGCGAGGGCTTTGTTCTCTTCTCCCTGCAGCTTCTCCCAGAGCTGGTGCCTTGTGGGTGGTTTAAGGAGCCAATCTTGAAAATGGCGTGGTTGAACACAGTGCCCATTGATTGCTCAGATATGAACATTCCTGCGGGCTGGGGATAAGGCAGTTCATCTTGCTGCAGAAATCAGGAGGGGGTTGCACTTCTAGCTTCAGCCAACAAATAATGCAGAAGTCCTCCAACTATGATTCCTTCCTATACTTCAAGGGCAGCTGGGGAAGTGGAAAGTGCCTCTCCCTAAAGCAGCGGTTCTGAAACCTGGCTGTGGACCAGAATCACCCAGGTAACCTGCTATAAATAGCTGAATCAAAACTCCAAGGGTGGGGCCCAAGAGTCTTATTCTTTTATAAGCACCCCAGGGAGTTTTCATGCACCTATCCTGGTACTGGCTAGTTCTATTTGGGAAACACTGCTCCAAAAATGCCCTACTCTGGGGACACTGGATGTTCTGGCCCACCATTTCAAACTCACTTGGTGCGGAAGTCATCCGCGGCCAGACGGGCATTGTCAATCTGCAGAAGGACATTGGCATTGTCCACTGTGGCTGTGAGAATCTGCAGGATGGAAAAGGCACAGGTAATTTGTCAAATGGACTTCACAAGCTGGACTTCACTGTAGCCTACATTAAGCTCTTGCTTCATGTTCTTGCCTGAATCCCCCTTTTCCCCCACAAAACTTGACCATAGCAGCCCAAAGGAAAACAGATGCCCCAGGCCTGTCCTAAGACTTTGCTAACTCATGGTCAACAGAGGGGGTAGATGCAGCCCCGGGCTTAGAATCGAAAGCCCAGGAGTTCTGGTCCCAATTCTGCCAGTGTCTTGCTGCAAAACCTAATGGGTCTTGGGGCTTCAAGTTCCCCACCTCCAGGTGAGGAGAATAATCTGAGGCTCCCTAGCCCTCCTTCCTGAGCTGACCTCTCTTCTGTCTGCATCAGCCAGCCCTGCCAGTCCTCTGCAGATATGCACATTCCTTTTCAAGCTCACAGGCCATGGGACTTCAAGTGGAACTTTCTCAAGAGATAAAACCCAACTAACACAGGGGATTAGAAAAGAGGACTCAGGGGAAGAATAAGAAGATATATTGGCCCCTGAGTCTGGTTGGATTTCCCCACCTCATCATTGAATTTCCCTAATCCATGCAAGTCATTAGAGCCCAACAGACTCCAGCAGGGAGGGCTCCCAAGTAATGTGGGAGCAGGGAGGAGGGGGCTAGAGTCAGGGCACAAGCCTGCCAGGCTCTCTCTGTGCAGGGCACATCAAGGGACCACACTAATTGTCTCTGCAGGCTCTCCATGCCCGCCTGGCTGTGGGGAGGGACCAGCCTGTACCAAGGCTTATGGGCGGCGGCAGCCACAGCCCAGACTAGTGAGCTAATGAGTGGTTTGGATGTCTTGCCTGGTCCCGTTAGAGCCTCACTCCTCCCCTGTGCTGGAGAACAAGTAGCTGCCTCCTGTGCTGGAAGGTAGGGCACAAGGGCCCCAGCCTTGGCTCTGCCATTAATTTGCTATGTGACCTGCAGCTGGTCACAGCACCTCTCGAAGCTTCAACTGCTTCCTCTAAAAAATGTAAGGATAGGAATCACTGATCTCACATGGTCTGAGGATTTGAGATCAGAAGGGGATGAGGAGGCTGGGGAAGGGAAAGCATCTTCTCACTGATCAGTCTTAGGGCATCCAAGACCTCGAAAGAAGGGATCTGGGGTGGACTCTGTCCTATAGAGAAATCTTAAGGTCTCAGGGGCCTGGGGCATGAATTGTTCCCAGAAGGAGCTAGCTGGAATGGTGCCTTCTGCTGCCCATTCACCCACCTTGTTCCTCAGGTCCTCAATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCAGCAGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCGTGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAGCCACCACCAAAGCCACCACCCAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCAAAGCCACTACCAAAGCTGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGGGAGGATGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCGCGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCCCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCAGAGGAGGGAGGTGAGCGAGCGAGCAGTTGGCTGAGTGAAGAGAAGGTGCTCGGGTAAATTGGAAAGGGATGCGAGTGCTTTATACTCGTGGGTAGGGGGCGGGTCTGGCACTTTCCATTCCCCTTGGCTTTCATCACCCACAGGCTAGCGCCAACTCCCAGCCAGGTCCCTCCTCTCATCCGCCTCATCATGTCTGTCATATTTTACTGGAAACTCATTGTTTGGAGTGTTTTGGGCTTTCTTGTCCCGCCAGGCGTGATTCACAGGGGGAGGTGTGGGCCTGCAGGCTACACTTTCCCATCGGACCCTGGGAGTCCCAGCCCTCAGGAACCCGCGCACTGGGCTTAGCCAGGGTGACAGAGAGCAGGGCCTCTGCACCTTAAACCTAGTTACCTGCTAGCTCTCCATGAACTGAATGGGCCTTTAACATCCACGTAGAGGAAGCCTGCTGCTGCAGGGGATGGATACCCGGCTGGAAAGCACCGGCATGGCAAGGTCACCTTGGGCACAGACAGGCCTCCCTCACCATGACCCTCTATTAGAGACAAGGAGGTCTGGGGGGCCCTCCCAGGCCTGACCTCCCATGCTGTGCTGAGAAGTCTGTCCCATCCCTGAAATACACCCAGCTAGTCAGGTGTATCGTGGTTCCCACCCCAACATCCCCATCAAAGAGAAATCCAGGCAGCTCTCCCCAGCCCTGAGCACAGACCCTAATCTCCTCCCTATGGTGAGGATCTCACATCCACCACACCATAGGGCAGGTGGCCTCATGGAGGCCAGGAAACAGCCTGGAGTCAGGTGGGTCCTGGCTCTGCCATTTACGCCTCTGTGACCCAGGGCTTGGCACTTCTCTGAGCCTCAGTGTTCTCATCTGCAAAGTGGGAGTCATACCATCTATTCTGCTTAGTGCAGTCAGCTCTGAGAATCCAATGCGACAATGTATGTGAAAGGGTTTTGTAAACCGAGTATGGCAAGAAGCCTCGTTGGCATTGTTATAGCCCAGGCTTAGCCCCAAAGTGGCTGGAGCTGCATCCAGGAACAGGCCTAGGGGGGCCTTTTATTCTTCCAGCCCCAGATATCTTCTCAGACCCCCAGAACATCCCTAGTGTGGGCAGCTCAGGCGCCCTCGTTTGAGCCCCTTGTGGAACTGGCCCAGGAGATGTTCTGGGGAGGAGTAGAGGCTGGAGTGGAGCTGGGCTGTGCCAAGGGCAAGGCTGAGGTGGACACGAGGGTCCCTGACTCCTGAAGCCCCAAGGGTCAGGGGACATTTCTAGGAGTCCACTTGGTCCTGCTTTGGAGGTGTGTATATCAAAACTTCAGCAATCTCCCAGACAACCTCCCAAAGCAAACCCTTCCGGCCCCCACCCCACCCTCCCATCAGCCCCTAGGCTCCACAGACCCCGGCAGGCATGTTGAGAGGAATGTGATCGTGTCTGGGGCTGCCTGACGCATCCTATCTCCTCAGACAGGCCCCAACAGCCCCTGCTGGAGGCTCCAATGCTCTTCCTGGGATCAACTGCTCCTAGAAGAGAAGCAGGACCCTCTGTCACCCCCAACCCCACCTTGACTGTCACCAAAGAAGAAGCCAGAGAAGGGAGCCCCCCACTACTGTGGCCTAGGAGCTTGGAAGACAATGCTGAGACAGACATCTGAGCTGTGGGCTCCCCAAATCTGCCAGCAAAGGAC
|
Task1_train_24314
|
A mutation in KRT16 (keratin 16), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; not provided
|
AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCT
|
AGAAAAAGCAGGGCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCGGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCT
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Task1_train_24315
|
Consider a variant on Chromosome 17 in gene KRT16 (keratin 16). Determine its clinical classification and disease relevance.
|
Pathogenic; not provided
|
GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC
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GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCGGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC
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Task1_train_24316
|
This variant affects the gene KRT16 (keratin 16) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pachyonychia congenita 1
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GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC
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GCAGTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCTGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCC
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Task1_train_24317
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Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Pachyonychia congenita 1
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GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCG
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GTCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGGGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCG
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Task1_train_24318
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A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Pachyonychia congenita 1
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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Task1_train_24319
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A variant found in Chromosome 17 affects KRT16 (keratin 16). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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Task1_train_24320
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The following genetic variant occurs in KRT16 (keratin 16) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Pachyonychia congenita 1
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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Task1_train_24321
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Chromosome 17 houses a mutation in gene KRT16 (keratin 16). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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Task1_train_24322
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Gene KRT16 (keratin 16) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; KRT16-related disorder
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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TCAGTTGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGG
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Task1_train_24323
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A variant was discovered on Chromosome 17, affecting KRT16 (keratin 16). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Pachyonychia congenita 1
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TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG
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TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG
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Task1_train_24324
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Here is a variant affecting KRT16 (keratin 16) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Palmoplantar keratoderma, nonepidermolytic, focal 1
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TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG
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TGTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTG
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Task1_train_24325
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A mutation on Chromosome 17 affecting KRT16 (keratin 16) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGG
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GTGCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATCGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGG
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Task1_train_24326
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A change on Chromosome 17 affects gene KRT16 (keratin 16). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Pachyonychia congenita 1
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GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCC
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GCTGAGAGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGCGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCC
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Task1_train_24327
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This variant affects gene KRT16 (keratin 16) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Pachyonychia congenita 1
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AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGC
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AGCAGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCGGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGC
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Task1_train_24328
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This mutation is located in gene KRT16 (keratin 16) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGCCTT
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AGCAGGGGGGCTAAAGGGTCTGGGAGGCAGAACTGAGGGGCCTGGGACTCACTGGGCATCCTCGCCCTCCAGCAGGCGGCGGTAGGTGGCAATCTCCTGCTCCAGCCGCGTCTTCACATCCAGCAAGATCTGGTACTCCTGGCTCTGCTGCTCCATCTCACAGCGTAGCTGGGCCAGCTGCTCCTCCACACTGCCAATCAGTCCCTGGATCTGGGACAGCTGCATGCAGTAGCGGCCTTTGGTCTCCTCCAGGCTGTTCTCCAGGGATGCTTTCTGCAAGTGAGAGAGAGAAAAAGAGTCCATGGAGGTGGTCACTCCTGTTCCTCCAGGTCTCTGGGCATGTTTTTTGAGAGATGCCTGGATTTTGATCCCAGTTGGGGTACTGATGGGCCAGACAATATGGAGAAAAGCTAGCCCACTATTCTAGGGCTTAGTTTCTCTATCTATATAACGGTCCCATGAGTCCCCTGGTCCCATCCTGAGAAAAGAAAGGTGGAACTAGACTGTGGCTTTTTGAGGGGGTGGTGGCCATTACTGGTGACTTGGGGGCTGCTGCTGTGCTGGGTCCTTCATACCATGCTGAGCTGGGACTGCAGCTCAATCTCCAGGCCCTGGAGCACCCTCCGGAGCTCCGTCACCTCACTGCGGCTGCTCTGTACCAGTTCGCTGTTGGAGGCCACTTCTTTGTTCAGCTCCTCGGTCTGAGGCAGGAAAGCAGAGTGAAAGGTGAGGCTCTCCCAAAGCCCCCAGCTGGGAAGTGCTGCAGGCTCACTGCGGGCCCGAGCCCCACCTTGCTCAGGAACCAGGTCTCAGCGTCTCTGCGGTTTTTCTCTGCCATCTGCTCGTACTGGTCACGCATCTCATTCAGGATGCGGCTCAGGTCCACGCCAGGTGCAGCATCCATCTCCACGTTCACATCTCCGCCGGTCTGACCTCTCAGAGCAAGCATCTCCTGGGAAGGGATGGCAGGAGGCGGTCAGTTCAGCAGACTTCTCTCCTGGCCCTGGGTGCATCTGGCAACCCCACCAAACCAGCCTCCCACCCCGGAAGCCAGCAGCGACCGTACCTCCTCGTGGTTCTTCCTCAGGTAGGCCAGCTCCTCCTTCAGGCCTTCGATCTGCATCTCCAGGTCAGTCCTGGCCAGGGTCAGCTCATCCAACACCCGGCGCAGGCCATTGACGTCGGCCTCCACAGTCTGCCGCAGGGCCAGTTCATGCTCATACCTGGCAGGACAGAGGTCAGGTCCTCAGGCTGCAGCCCTGAGGATTCTGAGGCTCGGGGTCTGCTGGCCCTGCTGGGTGGACCGCCCCACTCTTTGTCCCTTGCCCTCTGCCCCCAGCCCACCATGCTGGCTGCTCACTTGGTCCTGAAGTCATCGGCTGCCAGCCTGGCATTGTCAATCTGCAAAATGGGCTGCGCATTCTCAATGGTGGCCGCAATGATCTGGAGTGGGGATGGAGGACAGGAGCCCTGGTCAGCCAAGGACCTTACTACTTGAGCATGAAAGGCAGAAAGGGGCAAAAGGAACCGCCCCAAATCTGGAAGTCTTCTGGCTGGCAGGGCTGGCATGCCTTCTCCACCAGCTCAGGCTACGTAGGGATGCACTCCATCCCGATCACCCCCTTCCTGGGCCCAAGGCAGGGAAGCTGAACTTGCAGCTGAACCCTTGAAGGAAATAAGAGATTTAGGGTAACAGCCCCAGTCCGGGCACAGAGATACTGAAAAGGGACCCTCTGCTACCACTTCCCTGGGTGATCCTGGCCACTCCCCAAAGGTGCCCAGTCTCCCTGTTTGTAAAGTGTAATTGCTAAAAAGAGGTATCCCAAGGGCCACTGTAGCCCCAGCCTCTCTCAGTGCTCCATACACCAAAGTCACCCACCTTGTTCCTCAGGTCCTCGATGGTCTTGAAGTAGGGACTGTAGTCTTTGATCTCACTGGGCCGCTGCCTCTGGTACCAGTCACGGATCTTCACTTCCAGGTCGGCGTTGGCCTCCTCCAGAGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCCTGGTCACCTTCTCACTGCCCACCAGAAGCCCATCACCACCAGCAAAACCACCACCAAAGCCAGCACCCAAGCCACCACCGAAGCCAGCACCAAGGCCACCACCATATCCTCCCCCGAAGCCACTACCAAAGCTGCTGCTGCTGCTGAAGCCACCGCCATAGCCGCCCCCCAGCCCGCAGGCTCCCCCAGAGGAGAAGCGAGAGGAGACAGACAGGCCGCCCCCGTAGGTGCTGGGGGCACGGCAGGACCCTCCGGCCAGGACGGAGGAGATGCGGCTGGAGCCGCCCCCGATGCCGCCTCCGATGCCGCAGGAGCCCTTCATGGAGCTGGAGGAGGTGAACTGGCGGCTGCAGGTGGTCATGGTGCCAAGGAGGGAGGTGAGCGAGTGAGCAGTTGGCTGAAAGAAGGAAAGGTGCTCAGGAAGGCTGAGAGCGTGCTGTGGCTGCCTCCAACCCCAGAGACCTTTATATGCAGCTGGGGAAGGCGGGGCCCTCCTAACTGCTGACTCCAGGTTCCCCTCTGGATTTCATCACTCCCGGTCCCGTCCAACTCCTCACTCTGGATTATTCAGCCCAGGATCAACTCTGCTGTGTGCCGGCTCAGAGTTCCCACCCAGCTTTGGGGGTGTGGGGCCGAGAGAAAAACACAGAAATGCGAGTTCGGTGGTGACTCAGGCTAGGCGGTGGGGAATCAGGCTCCCTTTCCTGGAGCCCTCGGGGCCAGTCGGGCCTTGGCACAGGTGGCTTTGTGGCAACTGCGTCCCCAGGCAGTGAGTCAGCCCTTCAGAAGAACTCCCTGCCCCACAGTGACAGCCTTGGCTGAAAGAGAGCTCAGTGATGCCATCCTGGGCTGTCTTGGGGAGCAGTTGTGGGGATCCCACATGTCCCACTCTGGGCAGGGGCAGAGTTCCTGTCTTCACTCTGCTTGCTGTGTGGCCTGAGGCTCCCCACCTCCCACCTCTGGGCCTGTTTCCCCTCAGTGACCAGGCTGGACTGGGTGACTGCAGAGTCCCTTCTGTTCTAAAAATCCTATAACTCTCTTTCCCCTCTTGGATCTAATTCCAGTTCCAGAGGCTGCCTTGAGCCCCCGGGATCTCCAGAAGTGTGTGCACCATACAAACAGCACTGGCCATGGAGCTAGACAGGCGGCACTGAGTCCCTGCTCTGCCCTTACCAACTGTACAGCACAGGCTGGTCCTATAGCCCCTTGGTCCTCAGTTTTCTCATCTGTAAAAGGGGATGACACACCACTAGCCACAAAGAAACATGCGCGAAGGACCCCACCGGCCCTTCCCCGAGGGCCAGCCCTGCCCCTCAGCCTCCCCATCCTGCCCCTCCAGCCACCTGCTCCTCACACTCACCTCTACACACTGGCACCATCCCGCACCCCTAAGCAGGGCCCTGCGCCCCCCACACTCCCAGCTGAAGAACACCACAGCCCCACACCTAGCTCTGCCACTCCTCTACCGCCCTCTCCTAATCACAGGCACCCCACCTGCAGGCTGGTGGGAGGGAGCCCCATCCTGCCACTACAGCCAGGTATGACCCCTGACCCCACCTGGGCCTCAGAGTCCCCCCCTACCCTGTAGAAACAGGACTAGCCGGGGATCCGTTCCCAGCAGTTCTCTCTCCTGTGTCCACAGATCCCAGGCTAGGCCTGGCAGCTCCATTCATCCAGCTGAGCTGGGGGAGAGCACTGGTTATGGGCCCACTCAGGCATGCATGGAGAGCCCAGTGTGTGCCATACAGTTCTGTGAGCGTAGAGATTCACTCAAAGTCACTCTGCTTTAAGCTGCAGAGCTGCAACTAGAACCCAGAACTCTGGCCCTCTCCAGGCTCCCACCATGCCTGCAGGCGGGGCCAGTATACCCAACTCTCACCCACCTCCCCACGATCACTGGCAGGAGGTCTGCCCATGGTGGGCATGGCCTTGGCCTGAGAGCCTGGTCCAGCACCGAGGACTGGAGGGAGGATGGAGGGGTCTGGGCACCAAGACGGGGCCTCCTCAGGGTGCTGTGGGGCATCCCTCGGTGCTGGCCACTGGCCTT
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Task1_train_24329
|
The variant affects gene KRT17 (keratin 17), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAA
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GAGGTTCCTTGTGTACAGAGAAGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTCGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAA
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Task1_train_24330
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A genomic change on Chromosome 17 affects KRT17 (keratin 17). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Pachyonychia congenita 2
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AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAAT
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AGCAGTGTGGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCATCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAAT
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Task1_train_24331
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This variant affects the gene KRT17 (keratin 17) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCA
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GGTACAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCGGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCA
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Task1_train_24332
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Given this variant in gene KRT17 (keratin 17) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Pachyonychia congenita 2
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CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTC
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CAAAGAGGAGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTCGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTC
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Task1_train_24333
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This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC
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AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCGGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC
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Task1_train_24334
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A variant has been detected on Chromosome 17 in KRT17 (keratin 17). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Pachyonychia congenita 2
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AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC
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AGTCTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCTGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTC
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Task1_train_24335
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Gene KRT17 (keratin 17) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Pachyonychia congenita 2
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CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCT
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CTGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGGGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCT
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Task1_train_24336
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Gene KRT17 (keratin 17), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Steatocystoma multiplex
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TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTC
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TGCCCTGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCAGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTC
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Task1_train_24337
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A variant affecting Chromosome 17, within the gene KRT17 (keratin 17), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Pachyonychia congenita 2
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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Task1_train_24338
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This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Abnormality of the skin
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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Task1_train_24339
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Given this context: Chromosome 17, gene KRT17 (keratin 17) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Steatocystoma multiplex
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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Task1_train_24340
|
The gene KRT17 (keratin 17), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Pachyonychia congenita 2
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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TGCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCACTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCC
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Task1_train_24341
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A variant was discovered on Chromosome 17, affecting KRT17 (keratin 17). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA
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GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATCGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA
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Task1_train_24342
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A variant on Chromosome 17 in gene KRT17 (keratin 17) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Steatocystoma multiplex
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GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA
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GCACACTGGACCCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATGGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCA
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Task1_train_24343
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This alteration in KRT17 (keratin 17) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Pachyonychia congenita 2
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CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCATGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCACACTGCCCCAA
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CCCAAGGATCAGGGCTCTGCAGACAGGGAAGCCCTCTAAGGTGACTAATCCCGGTGCACCTGCTCTGCTCTCTCCCACGGCCTCAGCCATTGCCCAGCCCCAGGGCTCTGCCACCCACTCCTCAGCATCTTTGACCTTCTGCCCCAGCCACCTCACCTCCTCGTGGTTCTTCTTCAGGTAGGCCAGCTCCTCCTTGAGGTTCTCAATCTGCATCTCCAGGTCGGCTCTGGCCAGGGTCAGCTCATCCAGCACCCTGCGCAGGCCATTGATGTCGGCCTCCACACTCAGGCGCAGGGCCTGCTCTGTCTCAAACCTGCCGTGGGAATCAGAGACTTCAGCCCAGGCTGCTTGGACCTGCAGATCCAGGTCCTGGCTGCTCACCTGCCTTCATTTTGCCAGGACTCTAAGGAGTTGGAAGGGCTGATGAGAGGGTCGAGTGGAAACGAATTCCAGCCCCGGGACCCCGGGACCATCACAGGGCCAGATCCCACGCCCACCAGCTTCCTTACTTCTCTCTGCCTCCCGCCTCCCGCCTCCCCTCCTTCTCTTCTATTCCCTGCCTAAGCTCAGCAACCTTCAGAACTGGCTGCCTTCACTGCATCCTGGACTAAGGAGTGGGGCTCCTAGGACTGCCCCACCCTGAGCTCCTGGGCCTTGCCACAAGCAACCAAGGAATCCTGGGGTCAGGAGGGGTACCCTGAGATCCTCCGCCAGCTGGCCCAGGCTGCCCAAGGCCACAGCTAGGACTCACTTGGTGCGGAAGTCATCAGCAGCCAGACGGGCATTGTCAATCTGTAGCAGGATGTTGGCATTGTCCACGGTGGCTGTGAGGATCTGAGGAGAAGGGAGAGTAGTCAGGTCATTGGATGGGGGTGGCTGAGCCCACACCAGGGTTCTGAGCAGATCTTCCTGCCTCAGGGCCTCTCTTCTCGCCCAGCCCCTCCCTTGCCCCGTGCTGTATTATTGGCAGAGGAGGGGCAAACAGGAGTCTGAAGGGCTGAAAGGTGCCTCTTCTTCCCCCGATACTCAGTACCCCACCAGACCCCCATGGCAGGCTCGGCCTTAAAGGAGAAGAGACAGCTGGCTGGGAGTATGAGGCAACCAGAAAAGAATGGGAAAATGTCCCCAGGGCAGAAGCTGTCCCAGAATTCTAGAACAAGGGAGGGGATGTGGGCAACCCCCTCGTTTTACAGTCAGCTAGAGGGTGCCCCTGACAGGCTCCCCCAAAAGGAGGCTAAAGGAGCCCTCATTAAAGAGTGGTTCCAAATCAAAAGTCAGGACCCCTCCTAATCCCTAACCCTGGGCGCCAGCCAGCAGCCCCGCCCCCTGGGGTTTGCTGAGCCCGTCTTAAGGGACAGCAGGAGGAAAGGAGAAGCCAGAAAAATCCCCAAATAAGGCACATCAGAGGCCTTCCCCACACTGAGGTCCCGCCCCCTCCTTTCTGCCTCCTCCTGCAGCAGGTGCTATCAGGAGCTCACTCAGACACCCCCACTCCACATCACCCAAAACCCCCTCCTGTTGACCCCTGCTCCAAAGGAGCAAGACACCACACATCCAGCAGCCCACGGGCCCAGCCCTCCATCTGCATCCTCCTGCCTCATCCTACAACCTCTCCAGGTGGCGGAGCTCCACGAGGGAGAAACTGAGGCTCCAAGGGGCTCCACAAGGCCTCTTTGTTCCTGACTCAGCTTGCTGTCCCCAGAAAAGGGGGATGTGAGCCACACAGGGGCCCCAAGGCAGGTTCCCAGAAGCTAAGCCACAGCCAAACCACCCTTGGCTCCCTGAGACCCTATGGCTGGACTCCAGGCCTTTGGCCAAGGCAGGAGTTGGGGGGAAGAAGTCATGCCCCCCGGAGACCCCTCCCACCAGCAGGCCCTACCTTGTTCTGCAGCTCCTCAATTGTCCTGTAGTACTGGCTGTAGTCACGGGCGGGCCCCGGGGCCTGCCTCTGGTACCAGTCACGGATCTTCACCTCCAGCTCAGTGTTGGCCTCCTCCAGGGCACGCACCTTGTCCAGGTAGGAGGCCAGGCGGTCATTGAGGTTCTGCGTGGTGGCCTTCTCACCTCCAGCCAGCAGCCCATCAACACCCCCAAAGCTGCTGCCATAGCCACCACCAGAGCCAAAGCTGTAGCAGCTGGAGTAGCTGCTACCCCCGAGGGTGCTGCCCAGGCCGCCAGCAGATCCCAGCCTGCAGGAGCCGGCACCCAGGCCGCCAGACAGCCGGCAGGAGGTGCGGGACGAGCCGCCCCCCAGGCCGGAGGAGCCCTTGATGGAGCTGGAGGAGGTGAACTGGCGGATGGAGGTGGTCATGGTGGCGGCGGCAGGAGGCAGGCACACAGGAGAAGGGCTGGAGAGGAGAGGGGCCCCAAGTTGTGTAGGGCTGCCGGGGTTCGCCCGCTTCCTTTATAGGCCACCAAGTGGGCGTAGCGATTACAACAGGCTTGCTCCTCTGTTTCCATTCCCCTGGGCTTTCATCACCACTGGCCACCTGCCAGCTCCCAGGTGGCTGGGGGCCCCCTCCCCGCCCATCATCAGGAATTTGCCTCATTTCTCCAAATCCTCGTGCTGAGTGCCGTGCGTGTGCGTGCCTCTGGTCTCAGGCCCGTCACCTGTGATTCAGGCGGGCCCTCCAGCTATGCTTTCCCATGACCTAATACGGAGAAGAGGAGAAGGCAGGACGTCACCGTCCCCAGGCCCTCCCAGGCAGCCACCACCCCAGCCTGGCCCGCCTCAACCCTGTCTGGTGGGGAAATGGGTTGCAGTGTCAGCTGACCCCCCCGCCAAAGTTGCTGTCTTTCACCCCACACTGCTCCACCCACGGTGCTGGCCCCGGGGCTGGGTGCTGAAGAGAAAGAGGAGACCGAGAGCCTATCCTGCCTTGGAAACTGAGCCCAAACCCACCAGGCCCACCTCACAGCATAGAAATGCCATCAAGCCTCGGAGACCAACCCACATCACAGATAAAGAAATTGGGGCTCCAGAGGGGTGCCGTGTCCACACTGGCCCCTTCTGCAGAGCCTGACACCCAGGAATGCACTCTAGGGGCTACAGTTCCATCCAGTCAGCTTCTGACCCTGCCCCATCCCTAGAAATCCTTGCTAACCCAGTCTCTTCGTGTAAACCTTTCCCCAGGTTTACACTCCAGGCTGGGGTGGGCAAACAGGGGCTCAGCTATAGGATGGGGAAATGGTGGGCTGTGCCAACTGAGAGGGGGATGCCCCCTTCCACTCCCCTCACCCTTCTGTACCCCAAGAGACCTCAGGGTCAGGTGACGGGTATTTATCTCAGGTCTCAGCCCACAGGAAACCTAAAGGACATTGCCCAAGAAGAGGCTCTTACAGAGACCCCAGCCAGCCCCCTTCCCACTCCAGGCTCCCCAAGATGTGGCTCCTCAGGTGGGCCATGTGCCCCACCCCACAGCCCCACCCTGCCCTGCCCACCACCCCAAGCCCGGCCCTGGGTCCCAGGGTCCCGCCAGGCCCGCTGGGTGGAATGTGGTCATGTTTCAGACTGCCGATGGCTTCCACTTCCCAGACAGGCCCAGACGGCCCCGCCAGCAGCCGAGAGACATTCCTCAATAGCCCAGTGGCTGCCAAGCCACCAAAGCAAACAGGATGCCCCCTACGCGTACACGCACAGCGGCCACCCCGCCCCACACACACCCCGAGCTGGGGCAGAGCCGGTCTGGTTTCCTGGGCTGGCTGCGTCACTGCCATGCCCTCTCACTCATCAATGCCATGGACCACTCCTTCAGAAGCCCCTCCCCACCAAGCCCCTCTCCTTCTGCTCTTGAACCCGCCCTGGGCTGAGGCAGGGAGTGCTCCCCAACAGGCACCATCCTTGGAAAGTCTGTGTGGCCCTCCCAGGGACCAGCCACAGGTGACAGGGACTCAGGGGCTGATTCTTAGAAACTTTTCCCAATACAAGGGGCTGTCCCATCCCTCCACCCTTAATCTTTCCGCCTCCTCCCCTCTCATCTTTCCAGGAGCCCCAGGCCTGGATGGAGTGGGCAGAACAGATTGGCAGGTGACAAGCCCATACCCAAACACTCAATAAACTCCACCTCCCCCAGTCCCTCAGCCCACACTGCCCCAA
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Task1_train_24344
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This sequence variant lies in KLHL10 (kelch like family member 10) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Spermatogenic failure 11
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GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCTAGCTCATTCTCAGCTTCCAAATGTATATATCACCTCCCCATAAATAAATAGTAAATAAATATTTATTATTTATTTATTTATTTTGAGAAGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCGCGGCTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGGCTCCCCAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTAGCGCCCGGCTGACAACTATTTATTTATTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCTGTGGTGTGATCACAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCACACCTTAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGGCACCATGCCTGGCTAATTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGTGGTAGCACGATCTCGGCTCACTGCAACCTCCACCTCCCCAGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCACGTTGACCAGGCTGGTGTCAAATGCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGTTGGGATTGCAGGCGTGAGCCACTGCACTCAGCCTGGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTAGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGCTCAAGCGATTCTCTTGCCTCAGCTTCCTGAGTAGTTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTCGGTTAGCCTGGTCTAGAACTCCTGACCTCCGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACGGCCGTGAGCCACCTCGCCTGGCCCCAATTTTTGTATTTTTAGTAGAGACAGGGTCTTGCTATGTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCTCAAAATCGACTATTTAAACTGTGACTTATACATTTCAAAAACAAACCAAAATATTTCCAGCAATTCAAAGGCAGATCGAAAAATGGGAGTTAAGGATGTGGGATTTCCTGGCACTCTCACGTCACCTGAATGACTTTCTGCGTTTGCTTCTTAGGTTCGCCTGGCCCTAATGCATGCTGAGTACTTCATGAACAATGTTAAGATGAATGACTATGTCAAAGACAGTGAGGAATGCAAACCAGTCATCATTAATGCCCTAAAGGCCATGTATGACCTCAACATGAATGGACCCTCTAATTCTGATTTCACCAACCCACTCACCAGACCACGCTTGCCCTATGCCATCCTCTTTGCAATTGGTGGCTGGAGTGGTGGGAGCCCCACCAATGCCATTGAGGCATATGACGCTCGGGCAGACAGATGGGTGAATGTTACTTGTGAGGAAGAGAGTCCCCGTGCCTACCATGGGGCAGCCTATTTGAAAGGCTATGTGTATATCATTGGGGGGTTTGATAGTGTAGACTATTTCAATAGTGTTAAGCGTTTTGACCCAGTCAAGAAAACTTGGCATCAGGTGGCCCCGATGCACTCCAGACGTTGCTATGTCAGTGTGACAGTCCTCGGCAATTTTATTTATGCCATGGGAGGATTTGATGGCTACGTGCGTCTAAACACTGCTGAACGTTATGAGCCAGAGACCAATCAATGGACACTCATCGCCCCCATGCACGAACAGAGGAGTGATGCAAGCGCCACAACACTTTATGGGAAGGTAAAGGACCAGGGTGGGAGGGGAAGATGTGGATGCAAAGTACAAGACCAGAAATGATACTGCTCTTTTTTGGGGTGGATGGAAGACGCAGTGGCAGTATTCACTTTGGAGTACTCATTCTTTCTTCAATTGACAAGGTGACTAGTTGCAACTGTCTTTTATGTTGTTTATTGAAAAGTAATGCAAAGCCGGGCACGGTGGCTCAAGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCAGATCACTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGCGGGCGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGGATTTCAGTGAGCCAAGATGGCGCCATTTCACTCCAGCCCGGGCGACAGTGCAAGACTCCATCTCAAAAGAAAAAAGAAAAAAAAAGTAATGCAGGCTGGGCTCGGTGACTCACGCCTGTAATCCCAGCACTTTGGCAAGCCGAGGCGGGAGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGAGAATCACTTGAACCTAGGAGGCGGAGGCTGCAGTGGGCAGAGGTTGCAGTGCTCCAAGATTGCGCCACTGCACTCCAGCCTGATGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAGTAATGTGTAATGTGGCAGAGCCCAGTGTCTTGTGTTTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATTTCAGCTACTCAGGAGGTGGAGGTTGTAGTGAGCCGGGATAGCTCCACTGCACTCCAGCCCAGGCAACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAATAGGCTGGGCACAGTGTATCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGAGGGGCGGATTGCCTTAACTCAGGAGTTCGAGACCAGCCTGGACAACACGGTGAAACCTCGTCTCTACTAAAATACAAAAAATTAGCGGAGCGTGGCAGTGTGCGCCTGTAGTCCCAGCTACTCCAGATGCTGAGGCAGGAGAATTGTTAGAACCCAGGAGGCGGAGTGAGCAGAGATGGTGCAAATGGACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCTAAAAAATAAATAAAAAGCAATGCATGCACATACAAAAAAAAGAAATTCAGACTGTACAGACTGGAATTAAGTGCCCACTACCACCACACACATATCCTTTCTTTCTACTCCCTAGAGTGGGAATTTTAATAATCTTGGAACTCTTCACACAGGTCTACATATGTGGTGGGTTTAATGGAAACGAGTGCCTGTTCACAGCAGAAGTGTATAACACTGAAAGTAATCAGTGGACAGTCATAGCACCCATGAGAAGCAGGAGGAGTGGAATAGGCGTGATTGCTTATGGAGAACATGTATATGCGGTAAGTTTATCTAGTACCACACACACACAAAAAACACATTACCCCTAGATTTTGTATTAGTAA
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GCCTGTAATCCCAGCTACTCGGGAATCTGAGGCAGGAGAATAACTTGAACTCAGGAGGCGGAGGCTGCAGTGAGCCCAGATCGCACCATTGCACTCCAGCTGGGCGACAGAGAGAGACTTGGTCTCAAATTAACAAAAAAAAAAAAAAAAATCTTAAGTATTGCACACAATTGTTGTCAGTTGGTGCTAATAAGCGTTATTTTACATATTAAGACATACTCAATTACTGAACAATTACCATGGTTTTTCTTGGTCTAATAGTACTGACCACTAACCAAGGAATGGGATTGCTCTCTGGCCACTTGAGGTGCCTTCTATCTAGCTCATTCTCAGCTTCCAAATGTATATATCACCTCCCCATAAATAAATAGTAAATAAATATTTATTATTTATTTATTTATTTTGAGAAGGAGTCTCACTGTTGCCCAGGCTGGAGTGCAGTGATGCGATCGCGGCTCACTGCAACCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGGCTCCCCAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAACTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTAGCGCCCGGCTGACAACTATTTATTTATTTTGAGACAAGTCTCACTCTGTCACCCAGGCTGGAGTGCTGTGGTGTGATCACAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCACACCTTAGCCTCCAGAGTAGCTGGGACTACAGGCACGCGGCACCATGCCTGGCTAATTTTTTTTTTTTCTTTTTTTTTGAGTTGGAGTCTAGCTCTGTTGCCCAGGCTGGAGTGTGGTAGCACGATCTCGGCTCACTGCAACCTCCACCTCCCCAGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCACCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCACCACGTTGACCAGGCTGGTGTCAAATGCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGTTGGGATTGCAGGCGTGAGCCACTGCACTCAGCCTGGTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTAGGGTGATCTCGGCTCACTGCAACCTCTGCCTCCCTGGCTCAAGCGATTCTCTTGCCTCAGCTTCCTGAGTAGTTGGGATTACAGGTGCGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTTGCCATGTCGGTTAGCCTGGTCTAGAACTCCTGACCTCCGGTGATCCGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACGGCCGTGAGCCACCTCGCCTGGCCCCAATTTTTGTATTTTTAGTAGAGACAGGGTCTTGCTATGTTGCCAGGCTGGTCTCAAACTCCTGGCCTCAAGTGATCCACCTGCTTTGGCCTCCCAAAGTGCTGGGATTATGGTGTGAGCCTCAAAATCGACTATTTAAACTGTGACTTATACATTTCAAAAACAAACCAAAATATTTCCAGCAATTCAAAGGCAGATCGAAAAATGGGAGTTAAGGATGTGGGATTTCCTGGCACTCTCACGTCACCTGAATGACTTTCTGCGTTTGCTTCTTAGGTTCGCCTGGCCCTAATGCATGCTGAGTACTTCATGAACAATGTTAAGATGAATGACTATGTCAAAGACAGTGAGGAATGCAAACCAGTCATCATTAATGCCCTAAAGGCCATGTATGACCTCAACATGAATGGACCCTCTAATTCTGATTTCACCAACCCACTCACCAGACCACGCTTGCCCTATGCCATCCTCTTTGCAATTGGTGGCTGGAGTGGTGGGAGCCCCACCAATGCCATTGAGGCATATGACGCTCGGGCAGACAGATGGGTGAATGTTACTTGTGAGGAAGAGAGTCCCTGTGCCTACCATGGGGCAGCCTATTTGAAAGGCTATGTGTATATCATTGGGGGGTTTGATAGTGTAGACTATTTCAATAGTGTTAAGCGTTTTGACCCAGTCAAGAAAACTTGGCATCAGGTGGCCCCGATGCACTCCAGACGTTGCTATGTCAGTGTGACAGTCCTCGGCAATTTTATTTATGCCATGGGAGGATTTGATGGCTACGTGCGTCTAAACACTGCTGAACGTTATGAGCCAGAGACCAATCAATGGACACTCATCGCCCCCATGCACGAACAGAGGAGTGATGCAAGCGCCACAACACTTTATGGGAAGGTAAAGGACCAGGGTGGGAGGGGAAGATGTGGATGCAAAGTACAAGACCAGAAATGATACTGCTCTTTTTTGGGGTGGATGGAAGACGCAGTGGCAGTATTCACTTTGGAGTACTCATTCTTTCTTCAATTGACAAGGTGACTAGTTGCAACTGTCTTTTATGTTGTTTATTGAAAAGTAATGCAAAGCCGGGCACGGTGGCTCAAGCCCGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCAGATCACTAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCCTGGTGGCGGGCGCCTGTAATCCCACCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGCAGAGGATTTCAGTGAGCCAAGATGGCGCCATTTCACTCCAGCCCGGGCGACAGTGCAAGACTCCATCTCAAAAGAAAAAAGAAAAAAAAAGTAATGCAGGCTGGGCTCGGTGACTCACGCCTGTAATCCCAGCACTTTGGCAAGCCGAGGCGGGAGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCGGAGAATCACTTGAACCTAGGAGGCGGAGGCTGCAGTGGGCAGAGGTTGCAGTGCTCCAAGATTGCGCCACTGCACTCCAGCCTGATGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAAAAGTAATGTGTAATGTGGCAGAGCCCAGTGTCTTGTGTTTGTAATCTCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGCACAGTGGCACACACCTGTAATTTCAGCTACTCAGGAGGTGGAGGTTGTAGTGAGCCGGGATAGCTCCACTGCACTCCAGCCCAGGCAACAGAGTGAGACTCCATCTCAAAAAATAAAAATAAATAGGCTGGGCACAGTGTATCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGAGGGGCGGATTGCCTTAACTCAGGAGTTCGAGACCAGCCTGGACAACACGGTGAAACCTCGTCTCTACTAAAATACAAAAAATTAGCGGAGCGTGGCAGTGTGCGCCTGTAGTCCCAGCTACTCCAGATGCTGAGGCAGGAGAATTGTTAGAACCCAGGAGGCGGAGTGAGCAGAGATGGTGCAAATGGACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCTAAAAAATAAATAAAAAGCAATGCATGCACATACAAAAAAAAGAAATTCAGACTGTACAGACTGGAATTAAGTGCCCACTACCACCACACACATATCCTTTCTTTCTACTCCCTAGAGTGGGAATTTTAATAATCTTGGAACTCTTCACACAGGTCTACATATGTGGTGGGTTTAATGGAAACGAGTGCCTGTTCACAGCAGAAGTGTATAACACTGAAAGTAATCAGTGGACAGTCATAGCACCCATGAGAAGCAGGAGGAGTGGAATAGGCGTGATTGCTTATGGAGAACATGTATATGCGGTAAGTTTATCTAGTACCACACACACACAAAAAACACATTACCCCTAGATTTTGTATTAGTAA
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Task1_train_24345
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The gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Myopia 2, autosomal dominant
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TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC
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TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCACGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC
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Task1_train_24346
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A variant on Chromosome 17 in gene CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Myopia 2, autosomal dominant
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TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC
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TGAACAATGGGATACCTGCCTCAGGGGTTGCTGCGAGGACTGAGTGCTTAGCACAGCACTTGGACAGGAAACTCAAAAATCCAACGGAGCTCTCAGTGGTTTCACAGAGGAGGTGGCAGCTGAGGATCTGGCCTCAGAGGATGTTAGGATTTCACTCCGTTACTCATCTGTCCCTTTGGCCATTGCCATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAGGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTC
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Task1_train_24347
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Consider this mutation in CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Leukodystrophy, hypomyelinating, 20
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CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTCGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGACCAGGCTGGTCGGTAGCACAAAAGAAAGGAGGGGCCCTTGGCC
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CATCCTGGTCTGTCTCCACAGCTCCTAGAAGGAAAGGTCGGGGCTGAGACTGACTTTCGGCTGGCACAGGGCCTGGACGAATGAGGCCAGTGAGGCATTTCAGATGCAGAGTTTACCGGAATGCCAGCAAATTGCATGATAATATTTTAATCCAATGTGGTAAAAAAAAAAGTTTTTAATTAATGCAAAAGTCCATGATGAATAAAATATCAAAAATTAAAGACAGGATCCGACTTTGCACGACCCTGCCTCACTCACTTCCTGCTAATCCACGGGACCGGGGAGGGTGACTGAGTTACCCCTCAACACGCAGAAAAAGCTAGTGGCCGCTCAGCTCGCAGGCGCAGTGGGTGGGTGCGCGTGGGGAGCAGGCGCGCGCAGGGGGCGGGACCGGGCCGAGGTTCCCGCGCGCGGCGAGAGTTTCGGGTTTTGGTTCGCAGCGCCTGCGCGCAGAGGAGACGGCCCGCCCCCAGCCCGCCCGGGTGCCCGCTCCGCCCCCCGGGCTATGTAAAGCGGCCGGGCTCGGGTCGTGCCACCGCTGGACTCCCGTGTCCCTCCGCGCAGGCGGGCGGCCCCGGAGCGCTGGTGCCGGCAGAGGCGGCGACGGTGGCGCCCCTCCTCATCATGGTGAGAGGCCGGGCGGGGCCGGGCACGGGGTAGCACCAGGGCGGGAAACGAGTGTCGGGGCCCCTCGGGAGGAAGCGTCTTGCAAACGAGGACCCGGGGCTCCGGGTTCGACTTCCAGTTTTCTTGGTACTCAGGGCGGCCCTGAGGTCTGGGAGAAGCGGAGGGGTTTTGGGGTGCCGGAGAGGCCGCTGTAAAGGGAAACGGTGGTGTTTCTCAGGAGGGAACTCGGGACCGCAGAAGCTGCTGCGCCTCTGGGAGCCTGGGTGGGCCTGGGCCGGGAGCCCGGGAGCTGCTCCCGACCCCACGCAGGCCCGCGCTGGGGCAGCCGCTTCGGCGCCCCCTCCCCGGGCCCAGTCTCATCACGCGGAACCGCTGCCCCGCGCCCGGGTGCGGGCGGGAGGTGGAGCCAGTTCAGAGGAGGGGACCCTTTACGGTAAAAGCTGCCGTCCCTTGTGGCTTCTAGAAGATAGGAAAACAAGTGGCTCCGAGAGGCGCTTCTGACACACAGCACAGCGGCGGGTAGAGCTGGATCCTAATTGCAGGTGCCCTGTGCTGCCCTGTTCTGGACAGGCACAAAGACCACGACTTTGTGGGGGCCGGGAGAGGGTAGAGGAGGAGGTGGCAGGCTTGGTGAAAGAGGGCCTTTGTCCAGTGCTCTCCTGCCCTGCCCCCCACCAGCCCTTCTGTGGGACCATTGTACCCGCATGCCAGACAAGAGAGTATTATCTGTTGCGGCCATTGTTGGGGGAAGGGAGGCAGTCTTGGGGTAACCCTTCTCCACTCCCCCCCTTCTCTGTGCACTCAGCCGTGGCAGCTGTGGCTTGGCCCAGACACAGAGACCCCCACCTCCAAAGAGGACGTCCTTAGTAGGTGCCAAGCATATAAGAGTGAGGCCAGTCCCAGAACCGCAGGCTCCTGGCGCGCCCCGCATGCCTCCAGCACGTTTACCTTTCCGAAGTGGCAGGAATGGGGAAAGCGCACGCTTAGGAGAGCTTCAGACAAGCTTCCCTCTTCCTCCTCCACGACCAGAAGCGGAAAGGTGCTCCCGGACCGAAAGGGAAAGAAGGTCCAGCACTGCCCCGCTTGGGAAGGCACCCACAACCAGTCTAGGGACTAGGGGTAAGGCCGGCGGGGAGCCCGCGAATGACCTGGGCTGACATCTCTTCCCCTCCTTACACAGAACAGAGGCTTCTCCCGAAAAAGCCACACATTCCTGCCCAAGATCTTCTTCCGCAAGATGTCATCCTCAGGGGCCAAGGACAAGCCTGAGCTGCAGTTTCCCTTCCTTCAGGATGAGGACACAGTGGCCACGCTGCTAGAGTGCAAGACGCTCTTCATCTTGCGCGGCCTGCCAGGAAGCGGCAAGTCCACGCTGGCACGGGTCATCGTGGACAAGTACCGTGATGGCACCAAGATGGTGTTGGCTGACGCTTACAAGATCACCCCCGGCGCTCGAGGAGCCTTCTCCGAGGAGTACAAGCGGCTCGATGAGGACCTGGCTGCCTACTGCCGCCGCCGGGACATCAGAATTCTTGTGCTTGATGACACCAACCACGAACGGGAACGGCTGGAGCAGCTCTTTGAAATGGCCGACCAGTACCAGTACCAGGTGGTGCTGGTGGAGCCCAAGACGGCGTGGCGGCTGGACTGTGCCCAGCTCAAGGAGAAGAACCAGTGGCAGCTGTCGGCTGATGACCTGAAGAAGCTGAAGCCTGGGCTGGAGAAGGACTTCCTGCCGCTCTACTTCGGCTGGTTCCTGACCAAGAAGAGCTCTGAGACCCTCCGCAAAGCCGGCCAGGTCTTCCTGGAAGAGCTGGGGAACCACAAGGCCTTCAAGAAGGAGCTGCGACAATGTAGGTGGCAGGTTGGGGCCTTATAAGCCCACCTTGCTGGGCACAGGGTGCTGCGGGCAAAGGACCATCATTGTACTCAAAGGATGGAGCACGAAGCAGCAGGAGGCAGAGAGAGGCTCACCTCAGCGGGGGCAGGGGCAAGCGGTGCGTCCCAGTGGTAGCCTTGGGGAGTTGGCAGCACATTGGGAACACGGGGGCTTCCCAGAGCGCCTTTCCTCCCACCACACCTATCCTTCTAGCCCTCTTCTCTCCGACACCCTTTTCCCAGCCTGAATGTAGACCACTGTCCCTTGTCTTGGAGGTGGGAAAAACAAATTACTGTAGTAACAGGAAACATGTCCTCTTCTAATGTAACCTTAGAGGGGGAATCAAGCCCAGTGTTTTCCAACGCATTTTTAGCAGCAGAATCATGTTCCAAAAAATAATAATAATAATCACATGAAATTGTAAGCTGCAAAAAAATTAAAACTAGGACTATTGTGGCTTCACTGGGGATGGTTCTCAGGCCTCGGACTGCTCAATTTACTCATGGGTTTGTGGCATCTGCAGCTCCAGAGGACACAAGTCTCACACTTAGGCCAAAACCCGTTTTCAGATGGAAAAACATGGACCCAGGAGGGATGTGGGGTTTACGGGCTGGAACCCTGGACTCTGGCCACTCTAGCAGGGTTCTCTCTTGGCATGGGCTTTTTGCTCCAATGATAGGTTTGAGATAAAGAAGGGTCCTGGTGGCTCTCCTGGAGTGACCTGTTGGAGAAGTGCCACCCACTAATCCATCTATATGCCTTTAGGCCATTTCTGGTTGCCTCCAATTTTATTTATTTATTTATTGTGACACGGAGTCTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCTATCTCAGCTCAGTGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTCGAGTAGCTAGGACTACAGGTGTGCACCACCACGTCCAGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTTCACAATGTTGGCCAGGCTGGTATTGAACTCCTGACCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACCGCACCCAGCCACCCCCAATTTTAGATGATCTTCATGCCTGAAATAGCCCCACTCTGGTTTGTTGACATTGTGTATATTGCACAGAAGCAGGGAATTTGTGCCTGTATGGGTTCTCAGAGAGCTTTTTTCTCAGCTCCTAAACTTGAACTCTGCAGTGAACTGTGGTGCTTGCAGTGACATTGGCCAGGAGCAAGCCCTGTACCTGTGAGCTGGTGGCTCTGCCCTGGAGTGACTACTGCTCAAAGTTGCTTTTAATATTTATTTATGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCCAATTCTCTGCCTCAGCTTCCCAAGTAGCTGGGAATACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGACCAGGCTGGTCGGTAGCACAAAAGAAAGGAGGGGCCCTTGGCC
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Task1_train_24348
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Located on Chromosome 17, this mutation impacts CNP (2'',3''-cyclic nucleotide 3'' phosphodiesterase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Myopia 2, autosomal dominant
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CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGCTGCATTGCACAACCAAGTTTTGTGACTACGGGAAGGCTCCCGGGGCAGAGGAGTACGCTCAACAAGATGTGAGTCTTCCCCAGGGACACATGGGGGAGGTGGGAGGTTGGGGGAGAAGGGGCTGCAGCATCTTCTGAAGATAGGTACCGGTGCCAGGCAGGGACCAAAAACCAGATGGCAGCTCAAGAAAAATGGCATCTCCTCCTCCTAGCTCCCCTGTCCCCAGGCGTAGCTGCATAGACCTCAGCCGCAGGTTCTAAGGAGCCTGCCCTGGCAGTACTGCCAGCCTGTGCATTCACCTGCCCCCAAGCACCTTCGCCTTCTGCAGATTCATGGAGAATGCTGGTCCACAGTGGGCTCCTGCTCTGGTCTCTCTGAGCCTGTTTTACCTTCCAAAGACTAGGAGTCCTTCGCCCCCAGGGAGCCTGGTGCACTGAGGTCCCCATCCCTGTCCCCAGGTCTGAGGTCTGGCCTGGCCCCAGAGTGAGGGAGTTTCATACGATAATGAAGCTTATTGGCTAATGGGTACGAGACCTTTCTGCACCACACAGCTGGCACCTTACACCCACAGCCACTGACAGTGATCCCTGAATGCCAGGCATGTCACCCATATCCACAGTCTCCAACTTCCAAGTGTCCACCCCCAAGCCCACTCTCCCACTTCTCTGCCTAGGTTAGCACAATCGTTTGTTTGTTCACTAGAGTGTCCTCCCAAATGGAAGCTCCCCTGAGGGCGAGTTTTTAAGTTTCGTTGACTCCTGTGGTTCCAGCACCCTAGCATAGTGGAATGAATATGTAACACCTGAGCTACCATCCCTAACCATGCCTTCATTTAGCATTTATTAACTACCCATTTCATGCCAGACACTGTTGGGACAAGGGATCGTGAGCAAAAATAGAAAAGCGTTTATGCTGAGATGGGATGGGCTGTCTCAAAGAATCAGATAGAAGCAGACATATCATCAGATGGGAACCAAAGTGTAAGAGCAGGTTTCCATCAAGGGCGAGTCTGACCTCAGTCTGACCTCACCCTGTCCTCCAGGGCGCTGTCTGGGTCCCAGGGGAAGCTGAGCGGTGCCAACAGTAGCAGCTGTTGTGTGCGCGGACACCCCTGTGGGCTGTTTACCTAGTCACTCTCATAACCACATTAACTCTGAGGTAGGCTCTGGTTCTCCCTGTTTTACGGGTGATGAAGCCAAGGCACCGAGAGGTCAGCCAGCCCGCTGAGGCCGGAAGCCAGTGTGCAGGGAGCTGGGCTCCCTCAGGAAGTCCGGCTGTCCCCGTGTGGCCCTGTCTGAGCGCCTTCGTGTTTCTCACTTGAGCCTGGAGCGCCTATGGAAGGTGCGTGCCGCAGTTGTTAGTGGATGCTGGGCCTATACCGACCCCTGCTCAGCTGTGCTCACTTCTGTTAGACTTCCCCTTCTCTCCTCCAGGAGGGACCCTCCCTGGGTCAGCTGTTCCTCAAGAGCCTGCCATCTCTAGCTTGGGCCCCTCTTTCTCACTCTCCCCAGGTGTTAAAGAAATCTTACTCCAAGGCCTTCACGCTGACCATCTCTGCCCTCTTTGTGACACCCAAGACGACTGGGGCCCGGGTGGAGTTAAGCGAGCAGCAACTGCAGTTGTGGCCGAGTGATGTGGACAAGCTGTCACCCACTGACAACCTGCCGCGGGGGAGCCGCGCCCACATCACCCTCGGCTGTGCAGCTGACGTAGAGGCCGTGCAGACGGGCCTTGACCTCTTAGAGATTCTGCGGCAGGAGAAGGGGGGCAGCCGAGGCGAGGAGGTGGGCGAGCTAAGCCGGGGCAAGCTCTATTCCTTGGGCAATGGGCGCTGGATGCTGACCCTGGCCAAGAACATGGAGGTCAGGGCCATCTTCACGGGGTACTACGGGAAAGGCAAACCTGTGCCCACGCAAGGTAGCCGGAAGGGGGGCGCCTTGCAGTCCTGCACCATCATATGAGTGTTCTCACCACCACTTATGCCCCTAGAAGGGAAGGGGAGAGGGAAACGTGCCCTCTGTTTGATCCTTGTTTTGTGACATTTTTTTTTTTTTTTTTTTTACTCAAAGTTAACCTACCTGTAACTTTTTAAAAACTTGTAAAATAACTGACCCTCCCTTCCTGTCCGCCCTCTTCCCCTCTAATGCTCACGCTCCCAACACAAGGTGGGCAGGGAGGCACCATTCAGGAACCTGGACCAAAGCTGACGAGGCTGGGCCAAGCCAGGGATGGGGCCACAGCCAGAACCCCGAGCCCTACTTCCAGGTTCTGGTTAGCTCAGCCCCAGCCCAGCCCAGCTGCTCTGCCCAGAGCTGGGTGAGTGGGGAGACACCTCAGAGCCCCGCAAAACCCACTGACCGGAGGCAAAAGGCAGTGGGGCTGGGGGTAGTTTTCCATGGTCACAGAGAACTAGTGGTGGCTCTGAGAAGGGGAGGACCTCTGGGCTTTGATTCCATCTCCTTGTCTTTTTTCTTTGTTTTTAGAGACAGGGTCCTGCTATTTCCCAAGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCTGAGTGATCCCATTTCTTAATCAGTGTAGCCCCAAGAAGGCTGGGGCTATTTACCAGGGTAGAAAAAGGAGCTTACCTCCCACCTTTGGTCCTAAGTCCCTGCCCCCTCCCCTTCACACCATAACTAGGTAACAGTTTGATAACTAGGGAAGAAAGCAGAACAGTTAAGCAGCCGCCACATCCCCGCTGGCTGGGGGCCTCACTCCAGGAAGGGGCTGGACTGGCTGTCCTTTCCAGTGGCCTGGCTCCGCTGTGTGGATGGGGAGATCGGGGCCAGAGGCAGAACCCTGGTGAGGAAGCTCCAGTCCTGCTCTCTACCCAGCCCATCTTGCCTCCATGGTGCCTCTGGAGGCCTCTGGGCCTCCTCTAACAGGGGCTGGTGGGCACCAAGAGCCAATGGAGTAGACCCCTGGCTGGTAAGGGCCAAGTCCCACCGGTTGCTTCTGGGAAGGGGTTTCTAACACTAGTCTGTGTGCTGTGGTTCCTGGGGTGCCCTCCACTGCCCTCTGTTCAGTAACAGGGCCTTGCTAATCGGGTTGTCACTCAACAAAAGTGCTTTGGATTTAAGTTACTATCCTGGCTTTGCCCAACCTCAGCAACCTGTAAGACTGATAATGAAATAAATCATGTTAATCCTAGCTGTGTGCAGTCTCTCTTACCCTTCTGTGCCCAGCTCAGTCTTCCCTAGGGCTGGGTGTATTAGGACTGGCTTTGTCCCACAGCTTGGGGCCATCGGTCCTGTCTCCCCTCTGCTGGCCGGGCACAGCTGTGGTGAGGTTGGGCAGCTGAACAGTGTTGGCTTTCATGAGGAGGCAGAAAGCAGAGGCTGGCCTCAGACTCATACAGAAGGTGGGGGTTGGCTGGGTACGAGGGATGTGGAGCACAAAAGCCTCTCATCCCCCATTAACCAGGGCACCAAGCCCACAGGTGTCCCCAGCCCACTGGATCAGAAAGAGTTCAGTAAGACCGGAAGCTCCTGGTATGGGTTTCTCCCAGTTCTCTAGGGAAGGCCACCTGCAGGTCACTGAAACTTCAAGCACCAGGGAAGATCTAACATTTGAGTCCCTTCCAGGCCATCAGAGGCCTAGTCAGCCACATGGGAAACTTCCAAGACCTGACTCAGGCATCATTCCACCATGGCTAAGGCACCAGCCGGGGAAGACTTGAAAGAAAGGGGCAGGAGCTCAGATGAAGAGAAATCCT
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CACCTCGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAACCACCGCACCTGGCCTGAGAATTTTAACTTTTTATTGCTCTAAAGTTGCCATTAGTTTGACCAACTAACCAATGAATGAGCTGTAGTGGGTTGCTGGAGAGGTGATGCTTAGTGTCCGAGTGTTTTGCGCTGGGCCTCGGTGGTCCTGGTGGCGGATGTTGGTATGCCCCTGCTCCCCTGCCCTGACTGCACCCGTTTTCTCCCGGCAGTCGTCCCTGGGGATGAGCCCAGGGAGAAGATGGACTTGGTCACCTACTTTGGAAAGAGACCCCCAGGCGTGCTGCATTGCACAACCAAGTTTTGTGACTACGGGAAGGCTCCCGGGGCAGAGGAGTACGCTCAACAAGATGTGAGTCTTCCCCAGGGACACATGGGGGAGGTGGGAGGTTGGGGGAGAAGGGGCTGCAGCATCTTCTGAAGATAGGTACCGGTGCCAGGCAGGGACCAAAAACCAGATGGCAGCTCAAGAAAAATGGCATCTCCTCCTCCTAGCTCCCCTGTCCCCAGGCGTAGCTGCATAGACCTCAGCCGCAGGTTCTAAGGAGCCTGCCCTGGCAGTACTGCCAGCCTGTGCATTCACCTGCCCCCAAGCACCTTCGCCTTCTGCAGATTCATGGAGAATGCTGGTCCACAGTGGGCTCCTGCTCTGGTCTCTCTGAGCCTGTTTTACCTTCCAAAGACTAGGAGTCCTTCGCCCCCAGGGAGCCTGGTGCACTGAGGTCCCCATCCCTGTCCCCAGGTCTGAGGTCTGGCCTGGCCCCAGAGTGAGGGAGTTTCATACGATAATGAAGCTTATTGGCTAATGGGTACGAGACCTTTCTGCACCACACAGCTGGCACCTTACACCCACAGCCACTGACAGTGATCCCTGAATGCCAGGCATGTCACCCATATCCACAGTCTCCAACTTCCAAGTGTCCACCCCCAAGCCCACTCTCCCACTTCTCTGCCTAGGTTAGCACAATCGTTTGTTTGTTCACTAGAGTGTCCTCCCAAATGGAAGCTCCCCTGAGGGCGAGTTTTTAAGTTTCGTTGACTCCTGTGGTTCCAGCACCCTAGCATAGTGGAATGAATATGTAACACCTGAGCTACCATCCCTAACCATGCCTTCATTTAGCATTTATTAACTACCCATTTCATGCCAGACACTGTTGGGACAAGGGATCGTGAGCAAAAATAGAAAAGCGTTTATGCTGAGATGGGATGGGCTGTCTCAAAGAATCAGATAGAAGCAGACATATCATCAGATGGGAACCAAAGTGTAAGAGCAGGTTTCCATCAAGGGCGAGTCTGACCTCAGTCTGACCTCACCCTGTCCTCCAGGGCGCTGTCTGGGTCCCAGGGGAAGCTGAGCGGTGCCAACAGTAGCAGCTGTTGTGTGCGCGGACACCCCTGTGGGCTGTTTACCTAGTCACTCTCATAACCACATTAACTCTGAGGTAGGCTCTGGTTCTCCCTGTTTTACGGGTGATGAAGCCAAGGCACCGAGAGGTCAGCCAGCCCGCTGAGGCCGGAAGCCAGTGTGCAGGGAGCTGGGCTCCCTCAGGAAGTCCGGCTGTCCCCGTGTGGCCCTGTCTGAGCGCCTTCGTGTTTCTCACTTGAGCCTGGAGCGCCTATGGAAGGTGCGTGCCGCAGTTGTTAGTGGATGCTGGGCCTATACCGACCCCTGCTCAGCTGTGCTCACTTCTGTTAGACTTCCCCTTCTCTCCTCCAGGAGGGACCCTCCCTGGGTCAGCTGTTCCTCAAGAGCCTGCCATCTCTAGCTTGGGCCCCTCTTTCTCACTCTCCCCAGGTGTTAAAGAAATCTTACTCCAAGGCCTTCACGCTGACCATCTCTGCCCTCTTTGTGACACCCAAGACGACTGGGGCCCGGGTGGAGTTAAGCGAGCAGCAACTGCAGTTGTGGCCGAGTGATGTGGACAAGCTGTCACCCACTGACAACCTGCCGCGGGGGAGCCGCGCCCACATCACCCTCGGCTGTGCAGCTGACGTAGAGGCCGTGCAGACGGACCTTGACCTCTTAGAGATTCTGCGGCAGGAGAAGGGGGGCAGCCGAGGCGAGGAGGTGGGCGAGCTAAGCCGGGGCAAGCTCTATTCCTTGGGCAATGGGCGCTGGATGCTGACCCTGGCCAAGAACATGGAGGTCAGGGCCATCTTCACGGGGTACTACGGGAAAGGCAAACCTGTGCCCACGCAAGGTAGCCGGAAGGGGGGCGCCTTGCAGTCCTGCACCATCATATGAGTGTTCTCACCACCACTTATGCCCCTAGAAGGGAAGGGGAGAGGGAAACGTGCCCTCTGTTTGATCCTTGTTTTGTGACATTTTTTTTTTTTTTTTTTTTACTCAAAGTTAACCTACCTGTAACTTTTTAAAAACTTGTAAAATAACTGACCCTCCCTTCCTGTCCGCCCTCTTCCCCTCTAATGCTCACGCTCCCAACACAAGGTGGGCAGGGAGGCACCATTCAGGAACCTGGACCAAAGCTGACGAGGCTGGGCCAAGCCAGGGATGGGGCCACAGCCAGAACCCCGAGCCCTACTTCCAGGTTCTGGTTAGCTCAGCCCCAGCCCAGCCCAGCTGCTCTGCCCAGAGCTGGGTGAGTGGGGAGACACCTCAGAGCCCCGCAAAACCCACTGACCGGAGGCAAAAGGCAGTGGGGCTGGGGGTAGTTTTCCATGGTCACAGAGAACTAGTGGTGGCTCTGAGAAGGGGAGGACCTCTGGGCTTTGATTCCATCTCCTTGTCTTTTTTCTTTGTTTTTAGAGACAGGGTCCTGCTATTTCCCAAGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCGAACTCCTGGGCTCAAGCAATCCTCCTGAGTGATCCCATTTCTTAATCAGTGTAGCCCCAAGAAGGCTGGGGCTATTTACCAGGGTAGAAAAAGGAGCTTACCTCCCACCTTTGGTCCTAAGTCCCTGCCCCCTCCCCTTCACACCATAACTAGGTAACAGTTTGATAACTAGGGAAGAAAGCAGAACAGTTAAGCAGCCGCCACATCCCCGCTGGCTGGGGGCCTCACTCCAGGAAGGGGCTGGACTGGCTGTCCTTTCCAGTGGCCTGGCTCCGCTGTGTGGATGGGGAGATCGGGGCCAGAGGCAGAACCCTGGTGAGGAAGCTCCAGTCCTGCTCTCTACCCAGCCCATCTTGCCTCCATGGTGCCTCTGGAGGCCTCTGGGCCTCCTCTAACAGGGGCTGGTGGGCACCAAGAGCCAATGGAGTAGACCCCTGGCTGGTAAGGGCCAAGTCCCACCGGTTGCTTCTGGGAAGGGGTTTCTAACACTAGTCTGTGTGCTGTGGTTCCTGGGGTGCCCTCCACTGCCCTCTGTTCAGTAACAGGGCCTTGCTAATCGGGTTGTCACTCAACAAAAGTGCTTTGGATTTAAGTTACTATCCTGGCTTTGCCCAACCTCAGCAACCTGTAAGACTGATAATGAAATAAATCATGTTAATCCTAGCTGTGTGCAGTCTCTCTTACCCTTCTGTGCCCAGCTCAGTCTTCCCTAGGGCTGGGTGTATTAGGACTGGCTTTGTCCCACAGCTTGGGGCCATCGGTCCTGTCTCCCCTCTGCTGGCCGGGCACAGCTGTGGTGAGGTTGGGCAGCTGAACAGTGTTGGCTTTCATGAGGAGGCAGAAAGCAGAGGCTGGCCTCAGACTCATACAGAAGGTGGGGGTTGGCTGGGTACGAGGGATGTGGAGCACAAAAGCCTCTCATCCCCCATTAACCAGGGCACCAAGCCCACAGGTGTCCCCAGCCCACTGGATCAGAAAGAGTTCAGTAAGACCGGAAGCTCCTGGTATGGGTTTCTCCCAGTTCTCTAGGGAAGGCCACCTGCAGGTCACTGAAACTTCAAGCACCAGGGAAGATCTAACATTTGAGTCCCTTCCAGGCCATCAGAGGCCTAGTCAGCCACATGGGAAACTTCCAAGACCTGACTCAGGCATCATTCCACCATGGCTAAGGCACCAGCCGGGGAAGACTTGAAAGAAAGGGGCAGGAGCTCAGATGAAGAGAAATCCT
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Task1_train_24349
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Here is a mutation in HCRT (hypocretin neuropeptide precursor) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Narcolepsy 1
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CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTGAAGAGCGTTGGTTCCTTCTGAAGGCTATGAGGGAGAATCTGTTGCATGCCTCTCCCCTATCTTCTGGGGGTGGGGGTGCTGGCAATTTTTGGTGTTCCTTGGCTTGTAGGAGCCAATCTCTACCTTCATGTTCACATGGGTTCTCCCTGTGTGTGTTTCTGTGTTCCAATTCCCTTTTTTATAAGGACGCCAGTCACAGTGGATTAGAGGCCCACCCTACTCTAGTATGACCTCATCTTAACTAATTGCATCTGGAAGGACCTTATTTCCAAATACAGCCACATTCTGAAGTGCCACGGGTACGGACTTCAACATATGGATTTTGGGAACACCAGTAACAGGTGTCTTTGGCTGGAGTTGCAGTAAAATCTTGTACTGCCCCTGCTTAAGAATGTCCCATGACTCTGTTACCTACAAGATAAAGTGCAAAGCCCGATGATTTGTGAGAGCCTTTGCGAGCTGTGCTGCACTGACTGTAACTGTGTCCCTTCCTGAGCCTCTCCACTCCCCACACCCTATACCCCATGATGCAGCCATTCTGGATGACTCATTGTTGAAGTTCAAATTCCCTGCCTTTTCAGCAGGATTGACTCCCACCCCTTCCTAGCTGGATTCTGCTGCTCTATGCAGCTTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTTCTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTGACAGTGCCTCCTTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCAATTATGGCTCAAACTCAAACTCCTGGGCTCAAGCAATCCTCTCGCCCACCATACCCCGCTAATTAAAAAAACTTTTTGGAGAGATGTCTCACTCACTATGTTGCCTAGGCTCGTCTCGAACTCCTTGCTTCAAGGGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGCGCCCGACCGCTGCAACCTTTCTTGCTTTCCTTCCCCTTCCGCGTCTCTGGGTAAAGTCCCCGCTACAGAATGCCTAGCAGAGCATCGTAGGAGTCCCGCATGGCCCGATCCAAGCATGCACCTGTGCAGTTCTCTCTGTGCCCCAGGGCCTTGCACTGGGAACTCCCCAACCAAGAGTGTTTCCGATTCAACCACGCAAAAGCTAAGGCTGGTGCCCGACAGCCGGGCTTCCAGGCCCAGCTGTCCTCCGCAAGACGCTTTGCCACCCCGGATGGGCAGGACGCGACCGCACAGGAACAGAGACCAGTCACACGAATGGAGACTCGTCTTTATTGCCTTTTTTCTGGGGGCTGACGCTGGGTGGGCAGAGGGCAGAGGCCTGGGCCAGGACAGGGCCCGAAGAACGACTCAGATCCCGGACTGTCCTCCGGGCGCGACGGAGGCGGCGGCCGGGGCGGAACAGCGGCGCCCGAGGCAGGGGCGCGGCGCTGGCTCTGCGCCTGCGCGGCGGCCCATGGTCAGGATGCCCGCGGCGTGGTTGCCGCTGGCCTGCAGGAGGCGCTGCAGCCGACCCTGGAGGCCCGGGGGCCCGGACCTCCGCTTGCCCAGCGTGAGGATGCCGGCCGCGTGATTGCCCGCGCCGTGCAGCAGCTCGTAGAGGCGGCAAGAGCAAGTCTTTTGACGACAGCAGTCGGGCAGGGGCTGTGCAGCCGCCCCGGACGACAACAGCGCGGGCGGCAGCAGCAGCAGCAGCAGCAGTAGCGTCACGGCGGCCCAGGAGACCTAGGGAGACGGAGACAGGGCGCTGGGGGGGTCTTCCCACGGCGCCCGCCACCAGCTCCCACGCCCAGGACCTGCCCCTCTGGCTCCGCGCCCCCTCCAAGCCTGCACTCCTTTCTGGCTGTCACTTAGTTCTCCTTGCTTTGCGCCCTTGCTGGTATCGGCCTACTTTCCCTGCTCCTCCTTCAAGACCCAGCAGAGCATCTCCCCCAGGAAGCCTTTTGAGACCCCCTGGGCAGAGTGAATCCCCCTTTTCTCTGGAGACTTAGGCCACTGTGCCACCACTAGGGCACTTGCCACTCCACCTGAAAACAGGAGTGTCTGTCTGCAGCAGAAGTTGTAAACTTGGGAAAAACCCGGGCCCTACTGAGTCCCCCCAACTTCCTCTCCACAGCAGGGAAACACATGGAAATCAGGAACTAGCAAGACTCCAGAATGCTCTCTCATCTGCCTGCCCCCTTGCAGGAGTGACTGAACTCCGTTGCTTTGAACCAGTTTCCTGCCCTTTCAGAGGGCACAGCTCCCTTACCTGTAAACTGGGTATACTAGAAATAATTTCTACTCTGCAAGGCTGTTGGGAGGATGACAAGAGATGACAGGTGCAAACGGAGCACCTGACACATAGAGCTCAGCAAACACAGGCTCTTAGCAAAACAGCACCCAACCCAATGTGAGCCAAGGCAGGTGCTCCTGCCTCAGAGCACACCCAGGAAAAGACCAAGAGTGGAGACACCTTTGGCCTTTCTTCCAGCCCTCTGAGCAAGCACTCTTTTTGCTTCTCTGGGATGGTGAGTCACCCCTCCATCCCTGGATCTTTACCTTTGTGGAAGGAAGGTTCATGGTGTCTGGCGCTCAGGGTGGGGTAGCCGGGAAAGGAGATGTCTGTGGTGGTTCAAAAAGCCAGGAACCTTGAGGCTGTCAATTGTGACCCACTCCCAGGGGTCTGGGGTTTATAGTGCTCTGAGGTGGCGGGGAATTGACAGGCACTTGCGTCCACACCCAGGCCAGACAAAGGCAAGTCTAAGATTAGCCTGCTGCAGGGGGGCCGTCTCCAGGCTGGGCCCAAGGAATGGCCGCTGCGGCGTTCAGAGGCCAGGGTTGGATCACTGTGCCCCTGATCACCCCCTTGTCTGTCTATCTGCTCCCTGGAGATGGGGCGGTCTCCGGGCACTAATGAGGCCACCTTGCACCCAGGAATCTGGGAGCACAAAAGAGGCGCTGGCCTGGGACAATATGGAGGGAGGCAGCTGCTAATTAGGGGCGGGAGAGAGGCAGACGCGAGACCCCACATTATGTGTGTGGGGGGTGGAGCAGCCAGCAGCAGTCCTCTCCCTCCCCTGCTTCTTGTCGCTGCTCCTGGGGACTGTCAGGCTCCAGGACCTTCTTCCTTCATGGAAAGGCTCCTTAGCTGCCCCCTCCCCCTAGCTTTTTTTCTCCCTTCTGCCCTTTCCACTAGCCTCTGAGATGGAAAACCTTGAAAACTCAGCCTAGACAGTGGGAGGTAAGAAGCCAAAACCAAGCCCAATTTCTCTTTCTTTCTTTTCTGTGTGTGTGTGTGTGACTAAATTTTGGTCTTGTTGCTCAGGCTGGAGTGCAGTGGTATGGTCATCTTGGCTCACTGCAACCTCCGCCTTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAATAGCTCCTGAATAGAATTACAGGCACACGCCACCACAACCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGTCTCCAAAAGTGTTGGGATTACAGGCGTGGGCCACTGCACCAGGCCCCCCCGCTTTTTTTTTCTTCCTTCCTTCTTTCCTTCTTCCTTCCTTCCTGCATTTCTTTCTTTCTTTCTCTCTCTCACTCTCTCCCTCTTTCTTTCTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCT
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CTCAGCCTCCTTAGTAGCTGGGATCACAGGCGTGCATTACAATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTTGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGAGCCTAGCCTGTGTCTCTACTTTTGGATGTTATATTAGTTTCCTAGGACTGCCATAACAAAGTACCACAAAGTGAGTGGCTCAAACAACAGAAACCTATTGTCTCACAGTTCTGGATGCTAGAAGTCCAAGCAAGGTCAGGTGAAGAGCGTTGGTTCCTTCTGAAGGCTATGAGGGAGAATCTGTTGCATGCCTCTCCCCTATCTTCTGGGGGTGGGGGTGCTGGCAATTTTTGGTGTTCCTTGGCTTGTAGGAGCCAATCTCTACCTTCATGTTCACATGGGTTCTCCCTGTGTGTGTTTCTGTGTTCCAATTCCCTTTTTTATAAGGACGCCAGTCACAGTGGATTAGAGGCCCACCCTACTCTAGTATGACCTCATCTTAACTAATTGCATCTGGAAGGACCTTATTTCCAAATACAGCCACATTCTGAAGTGCCACGGGTACGGACTTCAACATATGGATTTTGGGAACACCAGTAACAGGTGTCTTTGGCTGGAGTTGCAGTAAAATCTTGTACTGCCCCTGCTTAAGAATGTCCCATGACTCTGTTACCTACAAGATAAAGTGCAAAGCCCGATGATTTGTGAGAGCCTTTGCGAGCTGTGCTGCACTGACTGTAACTGTGTCCCTTCCTGAGCCTCTCCACTCCCCACACCCTATACCCCATGATGCAGCCATTCTGGATGACTCATTGTTGAAGTTCAAATTCCCTGCCTTTTCAGCAGGATTGACTCCCACCCCTTCCTAGCTGGATTCTGCTGCTCTATGCAGCTTGCCTGCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTTCTTTCTTTTCTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTGACAGTGCCTCCTTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCAATTATGGCTCAAACTCAAACTCCTGGGCTCAAGCAATCCTCTCGCCCACCATACCCCGCTAATTAAAAAAACTTTTTGGAGAGATGTCTCACTCACTATGTTGCCTAGGCTCGTCTCGAACTCCTTGCTTCAAGGGATCCTCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCACCGCGCCCGACCGCTGCAACCTTTCTTGCTTTCCTTCCCCTTCCGCGTCTCTGGGTAAAGTCCCCGCTACAGAATGCCTAGCAGAGCATCGTAGGAGTCCCGCATGGCCCGATCCAAGCATGCACCTGTGCAGTTCTCTCTGTGCCCCAGGGCCTTGCACTGGGAACTCCCCAACCAAGAGTGTTTCCGATTCAACCACGCAAAAGCTAAGGCTGGTGCCCGACAGCCGGGCTTCCAGGCCCAGCTGTCCTCCGCAAGACGCTTTGCCACCCCGGATGGGCAGGACGCGACCGCACAGGAACAGAGACCAGTCACACGAATGGAGACTCGTCTTTATTGCCTTTTTTCTGGGGGCTGACGCTGGGTGGGCAGAGGGCAGAGGCCTGGGCCAGGACAGGGCCCGAAGAACGACTCAGATCCCGGACTGTCCTCCGGGCGCGACGGAGGCGGCGGCCGGGGCGGAACAGCGGCGCCCGAGGCAGGGGCGCGGCGCTGGCTCTGCGCCTGCGCGGCGGCCCATGGTCAGGATGCCCGCGGCGTGGTTGCCGCTGGCCTGCAGGAGGCGCTGCAGCCGACCCTGGAGGCCCGGGGGCCCGGACCTCCGCTTGCCCAGCGTGAGGATGCCGGCCGCGTGATTGCCCGCGCCGTGCAGCAGCTCGTAGAGGCGGCAAGAGCAAGTCTTTTGACGACAGCAGTCGGGCAGGGGCTGTGCAGCCGCCCCGGACGACAACAGCGCGGGCGGCAGCAGCAGCAGCAGCAGCCGTAGCGTCACGGCGGCCCAGGAGACCTAGGGAGACGGAGACAGGGCGCTGGGGGGGTCTTCCCACGGCGCCCGCCACCAGCTCCCACGCCCAGGACCTGCCCCTCTGGCTCCGCGCCCCCTCCAAGCCTGCACTCCTTTCTGGCTGTCACTTAGTTCTCCTTGCTTTGCGCCCTTGCTGGTATCGGCCTACTTTCCCTGCTCCTCCTTCAAGACCCAGCAGAGCATCTCCCCCAGGAAGCCTTTTGAGACCCCCTGGGCAGAGTGAATCCCCCTTTTCTCTGGAGACTTAGGCCACTGTGCCACCACTAGGGCACTTGCCACTCCACCTGAAAACAGGAGTGTCTGTCTGCAGCAGAAGTTGTAAACTTGGGAAAAACCCGGGCCCTACTGAGTCCCCCCAACTTCCTCTCCACAGCAGGGAAACACATGGAAATCAGGAACTAGCAAGACTCCAGAATGCTCTCTCATCTGCCTGCCCCCTTGCAGGAGTGACTGAACTCCGTTGCTTTGAACCAGTTTCCTGCCCTTTCAGAGGGCACAGCTCCCTTACCTGTAAACTGGGTATACTAGAAATAATTTCTACTCTGCAAGGCTGTTGGGAGGATGACAAGAGATGACAGGTGCAAACGGAGCACCTGACACATAGAGCTCAGCAAACACAGGCTCTTAGCAAAACAGCACCCAACCCAATGTGAGCCAAGGCAGGTGCTCCTGCCTCAGAGCACACCCAGGAAAAGACCAAGAGTGGAGACACCTTTGGCCTTTCTTCCAGCCCTCTGAGCAAGCACTCTTTTTGCTTCTCTGGGATGGTGAGTCACCCCTCCATCCCTGGATCTTTACCTTTGTGGAAGGAAGGTTCATGGTGTCTGGCGCTCAGGGTGGGGTAGCCGGGAAAGGAGATGTCTGTGGTGGTTCAAAAAGCCAGGAACCTTGAGGCTGTCAATTGTGACCCACTCCCAGGGGTCTGGGGTTTATAGTGCTCTGAGGTGGCGGGGAATTGACAGGCACTTGCGTCCACACCCAGGCCAGACAAAGGCAAGTCTAAGATTAGCCTGCTGCAGGGGGGCCGTCTCCAGGCTGGGCCCAAGGAATGGCCGCTGCGGCGTTCAGAGGCCAGGGTTGGATCACTGTGCCCCTGATCACCCCCTTGTCTGTCTATCTGCTCCCTGGAGATGGGGCGGTCTCCGGGCACTAATGAGGCCACCTTGCACCCAGGAATCTGGGAGCACAAAAGAGGCGCTGGCCTGGGACAATATGGAGGGAGGCAGCTGCTAATTAGGGGCGGGAGAGAGGCAGACGCGAGACCCCACATTATGTGTGTGGGGGGTGGAGCAGCCAGCAGCAGTCCTCTCCCTCCCCTGCTTCTTGTCGCTGCTCCTGGGGACTGTCAGGCTCCAGGACCTTCTTCCTTCATGGAAAGGCTCCTTAGCTGCCCCCTCCCCCTAGCTTTTTTTCTCCCTTCTGCCCTTTCCACTAGCCTCTGAGATGGAAAACCTTGAAAACTCAGCCTAGACAGTGGGAGGTAAGAAGCCAAAACCAAGCCCAATTTCTCTTTCTTTCTTTTCTGTGTGTGTGTGTGTGACTAAATTTTGGTCTTGTTGCTCAGGCTGGAGTGCAGTGGTATGGTCATCTTGGCTCACTGCAACCTCCGCCTTGGGTTCAAGCGATTCTCCTGCCTCAACCTCCTGAATAGCTCCTGAATAGAATTACAGGCACACGCCACCACAACCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATGTTAGCCAGGGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCAGTCTCCAAAAGTGTTGGGATTACAGGCGTGGGCCACTGCACCAGGCCCCCCCGCTTTTTTTTTCTTCCTTCCTTCTTTCCTTCTTCCTTCCTTCCTGCATTTCTTTCTTTCTTTCTCTCTCTCACTCTCTCCCTCTTTCTTTCTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCT
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Task1_train_24350
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A change on Chromosome 17 affects gene STAT5B (signal transducer and activator of transcription 5B). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGCACTCCAGCCTGGGTGACAGAGACCCCATCTCAAAAATAAATAAATAAATAAATAAATAAAAATAAAAGCCATGGGTAGATAAGCAGGTAATACAAAAATCACTTCCCAAGAGATCCAATGATCTCAGACGTTTCAAGTTCAAACAGTATTCTAGCCCTCAGTAGAAGAAACAGTTTTTACTGGCCCCCAATCCCTGATTTCCCATACAAAGATATATAAAAGCTAGGAAGCATGCCCACAACCAGAGAAAGCATAAGAGCTATTAAAAGTGATGAATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACAACTACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGGTTTCACTGTGATGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTTCTTTTAAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAGTGATGTGATCATGACTCACTGTAACCTTGAACTCCCAGGGTCAAGTGATCATCCCACCTCACCCTCCAGAGTAGCTGGGACTACAGGCGCACACCATGAGCACCACCATGCCCACCTAATTAACTTATTTATTTATTTATTTACTTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGGCTTGAACTCCTGGCCTCAAGAGATCCTCCTGCCTGAGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAAGTTATTAAAAACTTTAATTCACAGAAAATGAACCAGCAAGCTACCCTTATTGTGAGGGTCAGAGGAGAGAACTAACTTTCCTGATGCCCTGGTGCAGTGGCTCAAGCCCGTAATCCCAATACTTTGGGAAGCCAAAGTGGGGGATTGTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATACAAAAAATTTAAAAATTAGATGGGTGTGGTGGTGCACGTCTGTGGTCCCAGCTAATCGGGAGGCTAAGGGAGGAGGACTGCTTGAGGCCAGGAGGTCAAGGCTGCAGTGAGCCATGTTTGTGCCGCTGCACTCCAGCCCGGGCAAAAGAGTGAGACCCTGTTTCAAAAAAAGAAAAGAACTAACATCTTGGGTAGAAATGGTTGATGGCAATATCCATATGTTAATTAGGATAAAGGAATATTTTTACTACTGTAAGAACTCCAAATCATCAAATTCTTCACTGAAATAAGCTTTATGCAGAGTAGTACAATAAGGCAAACATTTTAAGAGGGAAGCAACTGAGATTCTGCACGGACTCTTGTATCATAGGTAGCCATGTCATGGTTAAATGTTCATGTGTAACCATGCTGCCATATACTTTCATGTATAACCAAATTAGCAATTGTGTTTCCCATAATAGTATTTTTCATAGGCTGCCTTATTATGAGTATGTCATGGCTATACATTTATGTTTCCCATAATTAGTACTGACCTCAACAAATAGTAAGTACCCACTAAATTATTTGTTAAAATAATTTTGTAACGAAAGCAGCTAACTTTGGACATAAGAAGGGAGGGGCACTCACGAGAATCAAACTTCCAAGCAATGGTGATGCCGCCAATTTCTGAGTCACTGAATCTCAGGAGGAAGGTCCCATCTGGCTTGTTAATGAGTAGGTCATGGGCCTGTTGCTTGTTTACAAACCCCAAAATGGCCCTGGATCACCAAGGACAAAGGACAGAAGCAGAGTGTGACTTACGATGCCAGAGAGAAGACCTTCAGACTCTGTCGGCGCCTTAAGAAATAATGATTCTCACCCATCATTCCAATGAGGCTTGAGATGTTTTTTTAACACTTCCATCACACCGTCAAACCATTGCCAGAAAGTGTAATTCCGTCCTGGTAAATTCTCCTGGTTGGAGATACAACAGTGAACATAAGAACACCAGAGTAACACTTGGAATATTATACACATATTTAATTGGAAAAATTAAATGGGAAACAAACATCTACCCTTGTCAGAGGCATACAAATATCCCCGCCTACCTGAGTTTTACCTAATGGCCCCATGGAGAGGAAAAGAGGGAAGAAGGGGAAAATACCAAACTGCAGTTACCAGCACCCAGTGGGCTCCTGCTACAGACACTTTCACCTGGGACTGGGCTGACCCGTCCCTTGCTAGTTTCGATGTGTGGTCTGTGACCAGAAGCATCAGTGTCACCTGGGAGCTTCTGAGAAATGCACGTTGTTAGGCTCCAAATTAAACATTTAAAACACCTTGGGGGTGGGGGGTGTAGGAAAAGAAACAAAAATTAAATTCAAATCAAGGTGATAGCCGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCTGGACATGGTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAATCTGGGAGACGGAGGTTGCAGTGAGCCCAGAATGTACCACTGCACTCCTTGTGACAGAGCGAGACACCATCTCAAAAATAAATAAATAAACAAAAATAAATAGGGTGGGCACAGTGGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCCACTAAAAATACAAAATTGCGGGGCGTGGTGCCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGCGGTTGCGGTGAGCCAAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAATGAATAAAAATAAAATCAAAGTGACGTCTGAATTAGCAGATGCTAGAGGAGGAGTTTCTTTCATCAGCATCCCTCTTTGTGGGTTGAGGGTCCCATAGGAGCCTGATCTGGCATTACACATGGGGAACATAAGAGAGTAAAGGGGAGAGAGGCCCAGAGTTCGCATCCCCTCAAAAGCTTTGCTTCTCATGAGCTATGTTAACATCTGCTTTGCTCTATTTCCTTTACAAAGGAAGAAAATGCATTAACTGTAGACAAAGGTCAACTTATTTAAAATATGCAAAGATGTAATTTTCTACACGTGACCTGGGTAACTCTCAAGTTGTCCATCTAGTCAGAAGCTTCTATTACTTTCGGTACATTTTATTAGAGACATGAAGAATAAGGGCCCAGGGCAGGGAGACTCCTGAGAGCATCTGGTTGGGAAGGACTGATCTAACAGCGGCTGGCAGCTGGGCTCCTCACCCTGTTGAACTGGGACCAGGACACAGACAGGCCACTGTAGTCCTCCAGGTGGCTGCTGCTGTTGTTGAACAGTTTCTGCGCCAGGAACACGAGGTTCTCCTTGGTCAGGCCCCGGTTGCTCTGCACTTCGGCCTTGAATTTCATGTTGAGCGCCTCACACAGCTGTGGCCACAGCACTTTGTCAGGCACGGCAAATGGCACCCTGCCCTGAGAGGGAGAGAGGCCAGAATCTGATGAGAAAACAGTTGCATGA
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CTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGAAATAGTTTTAAAAGCCATGGGTAGGGGCCAGGCATGTTGGCTCATGCCTGTAATCCCACACTTTTGGAGGCCTAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGATGAACCCTGTCTCTACTAAAAATACAAAAATCAGCCAAGTGTGGTGGCACTCATCCGTAGTCCCAGGTACTATGCTGAGGTAGGAGAATGGCTTGAAGCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGACACTGCACTCCAGCCTGGGTGACAGAGACCCCATCTCAAAAATAAATAAATAAATAAATAAATAAAAATAAAAGCCATGGGTAGATAAGCAGGTAATACAAAAATCACTTCCCAAGAGATCCAATGATCTCAGACGTTTCAAGTTCAAACAGTATTCTAGCCCTCAGTAGAAGAAACAGTTTTTACTGGCCCCCAATCCCTGATTTCCCATACAAAGATATATAAAAGCTAGGAAGCATGCCCACAACCAGAGAAAGCATAAGAGCTATTAAAAGTGATGAATTTTTTTTTTTTCGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCACAACTACACCCGGCTAATTTTTTTGTGTTTTTAGTAGAGACGGGGGTTTCACTGTGATGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTTTTTTTTTTTTTCTTTTAAGAGACAGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAGTGATGTGATCATGACTCACTGTAACCTTGAACTCCCAGGGTCAAGTGATCATCCCACCTCACCCTCCAGAGTAGCTGGGACTACAGGCGCACACCATGAGCACCACCATGCCCACCTAATTAACTTATTTATTTATTTATTTACTTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGGCTTGAACTCCTGGCCTCAAGAGATCCTCCTGCCTGAGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCCAGCCAAAAGTTATTAAAAACTTTAATTCACAGAAAATGAACCAGCAAGCTACCCTTATTGTGAGGGTCAGAGGAGAGAACTAACTTTCCTGATGCCCTGGTGCAGTGGCTCAAGCCCGTAATCCCAATACTTTGGGAAGCCAAAGTGGGGGATTGTTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATACAAAAAATTTAAAAATTAGATGGGTGTGGTGGTGCACGTCTGTGGTCCCAGCTAATCGGGAGGCTAAGGGAGGAGGACTGCTTGAGGCCAGGAGGTCAAGGCTGCAGTGAGCCATGTTTGTGCCGCTGCACTCCAGCCCGGGCAAAAGAGTGAGACCCTGTTTCAAAAAAAGAAAAGAACTAACATCTTGGGTAGAAATGGTTGATGGCAATATCCATATGTTAATTAGGATAAAGGAATATTTTTACTACTGTAAGAACTCCAAATCATCAAATTCTTCACTGAAATAAGCTTTATGCAGAGTAGTACAATAAGGCAAACATTTTAAGAGGGAAGCAACTGAGATTCTGCACGGACTCTTGTATCATAGGTAGCCATGTCATGGTTAAATGTTCATGTGTAACCATGCTGCCATATACTTTCATGTATAACCAAATTAGCAATTGTGTTTCCCATAATAGTATTTTTCATAGGCTGCCTTATTATGAGTATGTCATGGCTATACATTTATGTTTCCCATAATTAGTACTGACCTCAACAAATAGTAAGTACCCACTAAATTATTTGTTAAAATAATTTTGTAACGAAAGCAGCTAACTTTGGACATAAGAAGGGAGGGGCACTCACGAGAATCAAACTTCCAAGGAATGGTGATGCCGCCAATTTCTGAGTCACTGAATCTCAGGAGGAAGGTCCCATCTGGCTTGTTAATGAGTAGGTCATGGGCCTGTTGCTTGTTTACAAACCCCAAAATGGCCCTGGATCACCAAGGACAAAGGACAGAAGCAGAGTGTGACTTACGATGCCAGAGAGAAGACCTTCAGACTCTGTCGGCGCCTTAAGAAATAATGATTCTCACCCATCATTCCAATGAGGCTTGAGATGTTTTTTTAACACTTCCATCACACCGTCAAACCATTGCCAGAAAGTGTAATTCCGTCCTGGTAAATTCTCCTGGTTGGAGATACAACAGTGAACATAAGAACACCAGAGTAACACTTGGAATATTATACACATATTTAATTGGAAAAATTAAATGGGAAACAAACATCTACCCTTGTCAGAGGCATACAAATATCCCCGCCTACCTGAGTTTTACCTAATGGCCCCATGGAGAGGAAAAGAGGGAAGAAGGGGAAAATACCAAACTGCAGTTACCAGCACCCAGTGGGCTCCTGCTACAGACACTTTCACCTGGGACTGGGCTGACCCGTCCCTTGCTAGTTTCGATGTGTGGTCTGTGACCAGAAGCATCAGTGTCACCTGGGAGCTTCTGAGAAATGCACGTTGTTAGGCTCCAAATTAAACATTTAAAACACCTTGGGGGTGGGGGGTGTAGGAAAAGAAACAAAAATTAAATTCAAATCAAGGTGATAGCCGGGCATGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTGGCTGGACATGGTGGCGGGTGCCTGTAATCCCGGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAATCTGGGAGACGGAGGTTGCAGTGAGCCCAGAATGTACCACTGCACTCCTTGTGACAGAGCGAGACACCATCTCAAAAATAAATAAATAAACAAAAATAAATAGGGTGGGCACAGTGGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCCACTAAAAATACAAAATTGCGGGGCGTGGTGCCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCAGGAGGCGGCGGTTGCGGTGAGCCAAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAATGAATAAAAATAAAATCAAAGTGACGTCTGAATTAGCAGATGCTAGAGGAGGAGTTTCTTTCATCAGCATCCCTCTTTGTGGGTTGAGGGTCCCATAGGAGCCTGATCTGGCATTACACATGGGGAACATAAGAGAGTAAAGGGGAGAGAGGCCCAGAGTTCGCATCCCCTCAAAAGCTTTGCTTCTCATGAGCTATGTTAACATCTGCTTTGCTCTATTTCCTTTACAAAGGAAGAAAATGCATTAACTGTAGACAAAGGTCAACTTATTTAAAATATGCAAAGATGTAATTTTCTACACGTGACCTGGGTAACTCTCAAGTTGTCCATCTAGTCAGAAGCTTCTATTACTTTCGGTACATTTTATTAGAGACATGAAGAATAAGGGCCCAGGGCAGGGAGACTCCTGAGAGCATCTGGTTGGGAAGGACTGATCTAACAGCGGCTGGCAGCTGGGCTCCTCACCCTGTTGAACTGGGACCAGGACACAGACAGGCCACTGTAGTCCTCCAGGTGGCTGCTGCTGTTGTTGAACAGTTTCTGCGCCAGGAACACGAGGTTCTCCTTGGTCAGGCCCCGGTTGCTCTGCACTTCGGCCTTGAATTTCATGTTGAGCGCCTCACACAGCTGTGGCCACAGCACTTTGTCAGGCACGGCAAATGGCACCCTGCCCTGAGAGGGAGAGAGGCCAGAATCTGATGAGAAAACAGTTGCATGA
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Task1_train_24351
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Assess the clinical impact of this variant on gene STAT5B (signal transducer and activator of transcription 5B), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG
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GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCACATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG
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Task1_train_24352
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The gene STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
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GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG
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GGTGGCATGCACCTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCACATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTG
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Task1_train_24353
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A mutation found in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
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CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG
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CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCCGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG
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Task1_train_24354
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Mutation context: Chromosome 17, Gene STAT5B (signal transducer and activator of transcription 5B). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCTGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG
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CTGTAATCCCAGCTTCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAATCCAGAAGGCAGAAGCTGCAGTGAGCCGAGATAATGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAATAGCATAAGATGTAAGTAGTCATTAACATAGCTGAGAATGTTAAAAATGCTTATTTATTTAGACAAGATACTTGAGTAATTACATGGTGCAGGAGATGCCAAAGGTACACAGAGAGTGAGATCTGTGGACAGGCAGGGAAGGAAACAAGAGATGTGGCAATCTTATCTAGGAGGCTTATCAGGACAAGAGGCAGACAGACAGTTTCAAAAAGGAGCTTCTGATTCAGAGTTTGTAAGTGAAGTATGGTAAATCTCTTAAAAATCTCACCTTTGCAGTAAAATACTTTTTCTCTAAAGAGGAGTGTTGGGAAACGTTAAGCCTCTCCACGTGAGCCAGAAGGTTCCATTTCACCTTCTTTACACACAACTGGAAGGTAACCCATGCTGTCCATGCTGTTTTGTAAATGAGCTGTTGAACTAACAGTCAAATCCTATATTCTAACAGCCACAAAACAAAACATAATCAAGGTTTGTTGGATATACTTAGAGAAGGACATGCTCTTATGTCCCAAATGATAACCCTTTTATCATGCTTTTATGGACTAATCTCTATTGGAAATATGTAACAAATGACCTTTGCCTACTAAAAAAATTTTTTTCTTTGAGACAGGGTGTCGCTTTGTCACCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAGCCTGGACCTCCTGGGCTCAGGCGATCCTCCCGCCTCAGCCCCCCCCAAGTAGCTGGGACTAGAGGCTGGTGTACCATGCCTGGCTAATTTTTTGGTATTTTTTGTAGAGACAGGATTTTGCTATGCTGCCTAGGCTAGTCTGGAGCTCAAGGGATCTGCCTGCCTTGGCCTCCTGGAGTGCTGGGATTATAGGCATGAGCCACCGCACCCAGCCTATGAGATCTTTAAAATGCTCATCGAGCAGCATGCTAGTGGGATTCAGATAGCGTTTGGGTGCATAAATCCACCAAATTATATCTTCCTTGAGGCAAAGTATCTCATTCTTCATGAGACCTAGAATGAATCACAGAAACTAAAATTTGGAAAAGACATTTAACAGCATCTTCATTTATTGAAAGGAAGAGGGTATGAAGCAACTTCTATGCTAAAGTAAGCCTCTGGAGAGATCTAACCTCTGGAGTGAACCTAGGAGTCCCAAATCCCATTCATAGTTTCACCCAAGGATTCAAAATAATATTTACTGAGTACTGACTGTGTGGCAAGCATTTTCTATGTTATCTAATTTAATCTTCCTAACAATGCTGTAGAGCAAGAGTATCCCTGTGCTGCAGACACTTGCTGGAAACTCAGGCTCAGAGAGGTAAAGTGAACTGCCCATGTGGTCATGGAGTGAGGAAATGGTGGAGTCTCAGTTCAAACCCTGGCCCGATGTCAAGCCCATGTTCTTTCCACTTTCCACATTCTTTCTATTCTGCCTCCCACTAAAGAAAACAGCGTCTTTTTTCCTATGCTTTTTTTTTATTATTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCGCTCGGGTTCAAGTGATTGTCGTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTCGGTATTTTTTAATAGAAACAGGATTTTGCTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCAACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGTGTGAGTCACTGCACCCGGCCTTTTCCTATGCTTTTTAAAAGGATAATACATAAATGAGATTCATGACACCGGCATTGATTTTGGGACCCACATGCCCGAGGAATACACTCACAGGCTCTGCAAAAGCATTGTCCCAGAGAACAGTGGCCGTCGCATTGTTGTCCCGGCTGCCATGAACGATCACCACCACTGGCAGGGACAGGGTCTAAAAAGACACAAGAGAAGGCTGAGCGCCCACGAGCCTCAAGTTCTTCTCCTTCTCTCTTTTTTTTTTTTCTTATTATAACAACACTTTTATTTTCCAAGTTTCAGTTAATGTTCCTCTCAGACACAGAATCTAAATGGCCCCAGGAATAATATGACTTTTCATACTGGCACAATCTTAGAAATTTTAAATATTTTACAAGCAATGTTGCTTAGATATTTCTGAAGGATAAAGTTTCTCAAAGTTACATGGAGAACAGGAGAGAGAAAAGACTATTGGAGATATTTCTGGGAAGAAAATACAAATAACAAATTTAAAACTTACCACAACCTTTACTCAAATTCATCCCAAGTAATGTTTCTCATATCCATTTTGTAGTCTACCTCTCCAGCTAGTTCAGTTCATTATTGTTTGTTCATGTTTTATTTTTTATTTTTTAATTTGTTGTTGTTGTTGAGACGGGGTCTCACAACCAGCTCCAGGCTGGTCTGGAACTCCTGAACTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGATGTGAGCCACTGCACTGGGCCTTGCTTGTTCATGTCTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTTTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGTTCATTACAACCTCAGCCTCCCAGGTTCAAGTGATTCTCCTGAGTAGCTGGGATTATAGGCACGTGCCACCACGCCTGGCTAATTTTTGTACTTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGCTGGTCTTGAACTCTTGACCTCAAGTGACCTGACTGCCTCAACCTACCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCTTGGCCTCTGTTCATGTCTTAAGAGAACCTAAGTGAAACAGTTCTCAGGGTGAGGTCAGTCCATTTTCAGTTTACCAACAGTCAAAAAGAAGAAGATGCTATGTGATAAAAAAAAAATATTTTGTAACATAAAGTACACCACACACACACACGCACACGCACACGCAGAGCTGAGGGAAGGCTTTACCTTGACTTGAAAAACCAGCTCATTTCCACCAACACTGAACTGGGATTCAAACAGGATTGTAAATTTTTCTTCTGTCACCGACTCTGCCCCACGACGGTCTGACCTCTTAATTCGTTTCAGGGACTACAAAGAAGAAACATAAGATGAAACGTAAGATATAAGTTGTTCCCCTCAAAGACCAGGGAAAAATTCATTCTTCCTCTTCTTCCACCCTCACCATATTCCTGAAGTGGGCACTAAGGGTGCCTGTGGCTTGGTGGTACTCCATGACGCAGCAGTTGTTCAAGATCTCGCCACTGTAATCACTGCAAATCAGAGAGAGACCAGCTCCAAACCCATGCCAGGGTCTCAGGACATGCGGAGTAAATAATATAATTTGGGGTAGCAGGAAATAGAGAAGTTTGCTAAAAATGTACGTCATTTAGAGGAAATGTTAGCTACATAACACATACATGTAATCTTCTCGGACGTATCTCTACAAAATGAAACAAGATCAAACTATCTTCACAGAAAACAGTTCCTAAGAGAACTTTTTTTTTTTTTTTTGTGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAATCTCAGCTCACTGCAATCTCTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGGCTCTCTAGTGGCTGGGATTACAGGTGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCTTAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCAGGCCCAAGAACTTCCTTATATTCCTTTGCTGATGCCCAGAAGAGGCCAGAAGGGCAAACAGGGATCTGACACAGGAGGCAGAATTCTTTTTTTCCTGTTGCCAGGACATGAG
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Task1_train_24355
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A variant was discovered on Chromosome 17, affecting STAT5B (signal transducer and activator of transcription 5B). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCTGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT
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GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCGGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT
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Task1_train_24356
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This sequence variant lies in STAT5B (signal transducer and activator of transcription 5B) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant
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GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCTGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT
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GCTTTTGGGAAGGAGGCCAGGGAGACGGGAAGCAATTTCCCTACTCCACTGGAGGCAGCTGAGCCTTCCCTGGCAAAAGCAGATCAATAGTCTGTGTTTCTGCTGAGTGAACTTGACAAATGGGACTGAGAAGACACTGCGTGATAGATCCAAACCCAACCTGAATCCAAACCTAATCCGCCACCATGCACAGGAAACAGAAAAGCCAGGCACGGGATCAGAAATACTGTTGACAGTCTAAGGACTTGGGTAGGAATAGCCATCCCAAATCTTCCGTTTCCATTCTCTGAAGGAGCTGCCCTTCTTCTAGGGCCAGTCTAGGATGGATTCAGATAAAAAAGGAAGACAGGCTAGAATCATCCTGTCAACCTTTACTCAATAACTGTTATGTTTCAGGCATTGTGCTGGCCTCAGGGTACAGAGATAAAAGATATAGTCCCTTCTCAAAGATTTATATTCCAGTGGAGAAGATAAAGAGTAAATAAGTAGTATCACTATAGACATAAAATGGAACCTACATACATGGAATTAGAGGAGCATGTGCTGTGTGTGTGTGTGTGTGCTGTGTGTCTATGTGTGTGTGGTGTGTATGTGTGGTGTGTGTGTGTGCTATGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTGGTGTGGTGTGTGTGGTGTGGTGTGTGTGTGCTGTGTGTCTGTGTGTGTGCTGTGTGTGGTGTGTGTGTGCTGTGTGTGTGCACTGTGTGTCTCTGTGTGCTGTGGGGGGTGTGTGTGCTGTGTGTGTGTGTGCTGTGTGTGTGATGTGTGTGGTGTGTGTGTGTGCTGTGTTGTCTGTGTGTGCTGTGTGTGTGTGTGTTTGGAGGGGCTGGGTGGTTGAGCCAAGGCTTCTCTGAGACTGAGCTGGGCATGGAAGCAGAGAGGAAACTATTAAAGCTCAAACTGCCAAACTGCTACAGGGTCAAAAGGGGGCGCTGGTGGGGCTCCACAGCCTCACCACAGACTGAAGCTCTCTGTGCCCCAACTACTAAGCAGGATTTATACCAGGCTAGGGAAGCTCTGTCCATAAGGGCTACCTAAGGGGCGTTAAGTGTACTCTGTTTCAGGAAGACCTCTGTGAATAACTGCATAGAACATTAGAAATCATATACAGGTCCTTAGTACTTACACGTACCTGCTTAGAAAGGTTTCTTTTCCCCCTTAGAGATAGGGTCTTACTATGTTGCCTAAGCTAGTCTGAAACTACTGGCCTCAAGTGATCCTCCTGCCCTGGCCTCCCAAAGCACCAGGATTACAGGTGTGCAAAACCACTCCCAGCTTAGAATTTTTTTTTTTTTTTTTTGAGACAGAATTTTGCTCTTTTTGTCCAGGCTGGAGTGCAATGGTGAGATCTCGGCTCCCTGCAACCTCCGCCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATTACATGCATGCGCCACTGGGATGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCAGAAAAATTTTTAAACATGTAATTATATAATTTCCTATTTATCATTTCAATAAAGCTCCACTTATAATATGCCTACTATATACAAAAGTATTGTTTGCTAGTATTTATTTAGACTGTGAGCTCCTTCTCAAAAGAAGAAATGTCTTCCCTGGCAGCTCAGAAGCTCCCTGGATGTGGGGACCTGAGTGAGATATGCACTTAAGCGGGGGGTCCTGTCATCTCCCCTTCCTAAATCTCATCCTCTCAGCACTGTCTTCAATGCAAATAAGTCCCTGCTACTCAGAGAAAGGTCGCTGCCTCCGAATGGAAAGTGTGCTTTCTCCCAACCCCACCAGAGCTGCTTTCCAGTCCCCAGGCCCAATCCTCAAGTTGCACAATGTGCCTCCACCGCGCCTCACCTTGGATCCTCAGGCTCTCCGGGTACTGGATGATGAAGTACTCCTGAGTCTGCTGCAGCTTTTTTAACTCATTCTCTGTGTCCTGCGTGACCAGTCGCAGCTCCTCAAACGTCTGGTTGATCTGGAGGTGTTTCTGGGACATGGCATCAGCAAGGCTTCCAGCTGGAGAGCTACCCTGGGAACATATGGGGGGCAGTGCAAGGCAGTGCGAATGGGAGGAAGACTGAGGCCTTAATCCCCAGGAAAAGCCAGCTCCTACAACCAGGGTAAGACCCCAAAAGGTAAATTTTGAGTCGGGAGGAAAAGCAAACGTCATCATGAGACACAGGGTGGAGTGGGAAAAGTGAGAAACAGGTGAGCGGACAGATCATGGCTCAGATCACAAAGCATGGGAGAAGCTTCCATTTCAGATCTGACCTCCACCAGAGTATTCCAAACGAGGTCCATTGAATTACCTTTGGAGAAACTAGAACGTAACCTGGTCCAGTGTCACCTGGGTTTTCCTACTAATGAGGAGGTGGAGTGATTCCTCTTCCACTCACTGACCCAATGCAAGGACGGCATTAAGCATTAGGGAGGCCATGGGGAGCAGGGCCATGTGAACACACATCATCTGTGTCCTCACTCAAGATATTCTCGTGATGGAATCATTTGCTTCCACCATGGAAGAGGCCAAACCTCTTGCAGGCATCCTGGAGACCCCAGGGTGAAGTGATGGGGGAGGCATAAACAAGGTCTCTGTGGACCCAGCCCTGTAAGTGACCTGATCAGACCACTCCTTCCACACCTGATTCAGGGGCTAGGGAAAAGTCTTTCCTAAGTATTCTCACCTGAATATGAGCATGCCTTTACTAAAAAATTATTCAGCTGAGGTTGAATTACTTTGCACTTGTTCACATTGTCTTGTGGTTGCAATCTCATCAAGGTTATAAATCAGTTAAGATCAGAGACCACATCTTCTATTTCATTTTTTTTTTTTTGAGACAGGGTCTCACTCCATCACCCATGAGTGCAGGGGTGCGATCATGGCTCACTGCAGCCTCTACCTCCTGGGCTCAAGGGATCTTCCCACTTCAGGTTTTCGAACAGCCAGGACTACAGGCATATGCCACCATGCCCAGCTAATTTTTTTGTATTTTTGGTAGAGACGGGGTTTCATCATGTTGCCCAGGGTGCTCTCGAACTCCTGGGCTCAGGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGCTGCACTCAGTCAAGTCTCCTATTTCTTTTGTGCCCCTTAGGATGAAGCTCTCTTTAAAGAGACACCAATAGTGCACCCTGAGTCACCTTGACAAAGGTGGGTCCAGAGGGAGGTGGGTAAGAAAAGACTTCCCGACTGCCCTCCCCATCCCTATGGGACACTCACATTGTTGGCTTCTCGGACCAACCTCTGTTCATTGTACAATATATGGCGGATGCAGCGGACCAGCTCCATGGGGCAGCGGTCATACGTGTTCTGAAAGAATCCAACAGCAGACATCACTTTGTGCCACTCCACACTATGGGCCCTAACCATGCCTCAGGATGGGGAGCCTCCTGAGGGACCTCCTGAATCACAGGAGGCACTGTTCCTCCAATACCAACAGGAACAAGAAGGCACATCATGGAAATCCAATTGCAGTGAAAAGGTAAGATTGTTTTACTTCTTTTTTCTTTTTTTGAGACTGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAACCTCGGGCCACTGCAACCTCTGCCTCCTGGGTTCAAGTAATTCTCCTGCCTTAGCCCCCCGAGTAGCTGGGATTACAGGGGCCCGCCACCACGCCTGGCTAATTTTTGTCTTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGTTTTACTTTTTGCATCTTAATTTGCCTAAAGTATCCGGGGAACATTCTTAAAAACGGAATAAATAAGTTTTAAAAGCCTCGCAAGAGGAGAAACTGGATGCCACTCTCAAATGGGCAATCAAAACT
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Task1_train_24357
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Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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Task1_train_24358
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Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; STAT3 gain of function
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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Task1_train_24359
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Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCAGACTGTCGCCCAGGATGGAGTGCAGTGTGCAGTGGTGCAATTTTGGCTCACTGCAACCTCCGCCTCTCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACACCCAGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTATGATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCATTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATT
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Task1_train_24360
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With a mutation on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT
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TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTATCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT
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Task1_train_24361
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Chromosome 17 houses a mutation in gene STAT3 (signal transducer and activator of transcription 3). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; STAT3 gain of function
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TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT
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TGAGCCACCATGCCCGGCTGCTTAAGTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTATCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACT
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Task1_train_24362
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A variant has been detected on Chromosome 17 in STAT3 (signal transducer and activator of transcription 3). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC
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GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCATGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC
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Task1_train_24363
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This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; STAT3 gain of function
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GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC
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GTTTCTTAAATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCATGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAAC
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Task1_train_24364
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This variant affects the gene STAT3 (signal transducer and activator of transcription 3) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGCAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAACAAGGCTGGG
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ATACAGAAAGGCTATGCTGATACAGTGTTTTTTGCCCTTTAATTGTTATTATTTCTTAATTTAAAAAGAAACCTAGGGCTTAGATAGTCCTATCTTCTATTTGGATGTCAGCAAGGTTAAAAAGTGCAATGCCAGGAGTATGTAGCTATAGGTGGCCTGTGGCATTTGCTTACAGAAACAGGCAGAAGGATGCCGCAGGCACCAGGAGGCACTTGTCTAAGAACAACAACAACAATAACAAAAAGCTGCTGAGAAAGGAGGGCAGGGGAACAAAACAACACAAGACATTTCCTTTTTCTCCCTCTAGCCACCCCCCGCCACATCCCCTGATCATGGGTCTCAGAGAACACATCCTTATTTGCATTTAGATAAAAGCAGATCACCCACATTCACTCATTTCTCTATTTTTAAAAGTGCCCAGATTGCTCAAAGATAGCAGAAGTAGGAGATTAAAAAAAATCTGGAACCACAAAGTTAGTAGTTTCAGATGATCTGGGGTTTGGCTGTGTGAGGGGTGGCAGAATGCAGGTAGGCGCCTCAGTCGTATCTTTCTGCAGCTTCCGTTCTCAGCTCCTCACATGGGGGAGGTAGCGCACTCCGAGGTCAACTCCATGTCAAAGGTGAGGGACTCTGGAGGGACAGACAGGGAAAACTAGTTCAGTTGTCCACCCTCTGCAACTGGCAGGCCACGCCCCCAGCCCTTCAGAGGACAGGGCCCAGGCTACCACTGCTATCCAATCTCCTGCCCCTTAAGGCCCAGGGATGGTCAGAAAAGCCAGATTTACCCTCCTCCCTGGAGGACCCTGCCTCGGGAAGGGTCCTTTCTCATTCCCACCTTAACTGATTCCCAGAGCTCCATGTTTACAGAAGCTCTAAGGCTGTCCTGAGATCTTCTGCCCTTGATCTACTGTTTAATTCAGGAGCCCCGAGACACACGTGGCCACCAAGCATTTGAGATTTGGTTTGTCCAAACTGAGCTGTGCTGTGGCTGTCAAAAGCCCACTGGATTTTAAAGGCTTAGTATGAAAAAAAAGAATAAAAAAAGGTCTCAACTTTTTCTTTTTAGTTTAGTTTTGTTTATTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCGATCCTCCCACCTCAGCTTCTTGAGTAGCTGGGATTACAGGTATGCGCCACCATGCCCAGCTAATTTTTATATTTTAGAGATTTTGGTCAGACTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTCACCCAGCCTCAACTTTTTCTGAAATGTTAAATTGAGAGTATGTTGGATTTAGTGGGTTAAATAAAATATATTGTAAAAATTAAGTTCGTCTATTTCCAGTGTGGCTGCTAGAAGATTTATACTCACACATGTGGCATTCATACCATCTCTTTTGGAAAGCAAAGCTCTAGAATCTCCTACCATTCCGAGTGACCAGCTCTCGGTGTGTACATGTGAGAGCATCACACAAAGGGGACCAACTTCCCTTATAGGGACAAAGTCTGTCAACCAAATACTCACCAAACTGCCCTCCTGCTGAGGGTTCAGCACCTTCACCATTATTTCCAAACTGCATCAATGAATCTAAAGTGCGGGGGGACATCGGCAGGTCAATGGTATTGCTGCAGGTCGTTCTGTAGGAAATGGGGGGCAGCAGGAGGGGAAACGGGGGGTTGACAAGACACAATGGAAAAAAAAAAAAGAACAAAACACACACACACAAGCCATCAAACTCTGGTCTCCAACAGAAAAATAAAAGCTCAAGCTTTTTAAACACACAAGGTCACTTTGAGTACTAAACATAGCCCAGGGGCTTCCAACCTTTGGCAGATTAACTCTCACCCAGTGTCCCATTCCCAGGGATAACTGAGGATATTAGAAATGAAGGCAAAACGGGGAAAGGAAGCCACTTACGGTGTCACACAGATAAACTTGGTCTTCAGGTATGGGGTAGCGCCTGGGAAGAAGAAAACCAGTTTTCTTACTGACTGTGACTTCGCATTCAGTAAGCAGAGCTGGAGGAAGCCATCTGCCTCGGCAGGACTGATTTGAAACTCACTCATCCTCATGCCAAGATTGTCTGGAAAGCTCCATCTGCCCCTCAGGGTTGTCTGCCCTCATTTATACTATTTGATCTCCCAGGCACTAGCAGCTGTGAACTTCAGTTCTTTGCACAAAGCTGTCCTGAGCTGCAGAGACTTTTCAGCATAACCTTTTCCCACCTGACCCTAGACTAATGCCACCTTGTGTCCCTTCTTTCCCTAGATTATGTAAAAGTTTAACAGCCTCCACGTGGTCTGAGCATTCTATTCCGGCCTGGTCATATCTCTTAGATAACTTCTCTGCATGCAGGAACCGAGCCTGTGTAGTCTTTGCATGGTGTCCAGCCTAAATACCAATATCACCAAGTCTTTAAAGAACATGGAGACTGCTAATGCTTGTGGTTCCAAAGCCAAAGGTTATATCTCTTATTCCTACCAGCACTAATCTGGCCTCTACCACATTTTTGGATGAGGGCATGAGTAACTTTCTAGTTGGATAAATACGTCAATCAAAAAGCACCAAAGAGAATGTGACTTTGTAAGGCAGTACAATTGCTTCAACTAGAAGACCGGAGACCTGGGTCCAGGTACATCTTCAATAGCTAAGAGACCTGGAGCAAGGCATGGTCTCTCTCTTTTGTTGCTGTTGTTCTTATTGTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTCAAGTGCAGTGGCACAATCTCGGTTACCGCAACCTCCTACTCCCAGGTCAAAACGATTCTCCTGCCTTAGGCTCCCAAGCAGCTGGGACTACAGGTGGCACCACCATGCCTGGCTAATTTTTGTCTTTTTTTTTTTTGAGACGGAGTCTTGCTCTCTTTCGCCCAGGTTGGAGTGCAGTAGCGCCATCTTGGCTCTCTACAACCTCTGCCTCCAGGGTTCAAGTGATTCTCCTTCATCAGCCTCCTGAGTAGCTGGATTACAGGCATCTGCCACCATGCCTAGCTAATTTTTTTTTTGTAATTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCACCCTCCCAAAGTGCTGGATTACAAGTATGAGCTATCATGCCCAGCCTTGGCCACAATGCCCAGCCCATATTCTCTTTTATGTATAAAATAAGAGGGAGGGGGAAGACAAGGTGCCAATTTTCTATGAGCTTTGTCATTTATAATTCTTGTTCTACAGTTAGAAATGCGTTGACGGGAATAAAATGAATTTTAGATGCTGAATGCTTACACCAAGAGGTCAAGGAACCTTGGGGATACTGGCATGAAATCTGGGGAATTCAGGTGAACAAACCATTGAGAAGGCATGGGGCAGGGTGAGGTGGGCTGAGAACAGCACGGTCATAAAACATGAGGCTTAGACAGAACCTGAGGGATCAGAGAGCATGATGACCATGTGAAAGAAGGCACTGCAGAGTGGCTCTTGGGCTGCCATCTGAGTTTACTTTGGGCCAAGAAACTGATCAATTCAGTGCAGAATTCAAAGGAGCTACTGAGGCAAGACTCTAGTGTCTTATAAATCCAACTGTTTTGGCCCAGCCCTTAGGGAGCTGACACCCTAGACAGAAAAGGATTTAATTCTCCAGCATTCAAGATAGCTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCTGCACTTTGGGAGGCTGAAGCAGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTCACCAACATGGGGAAACCCTGTCTTTAATGAAATTACAAAAATAGCTGGGCGTGGTGGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGCTGAAGTGAGGTGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGACAGACTGTCAAAACAAAACAAAAACAAAAACAAGGCTGGG
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Task1_train_24365
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This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAG
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TGTGCTATTTGGACAAAAATAGTTTTTTCAACAGCAACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATGTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAG
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Task1_train_24366
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Given this context: Chromosome 17, gene STAT3 (signal transducer and activator of transcription 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATC
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ACTAGGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTCTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATC
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Task1_train_24367
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This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; STAT3 gain of function
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GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC
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GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCTGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC
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Task1_train_24368
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This variant affects gene STAT3 (signal transducer and activator of transcription 3) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC
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GGGCAAGGCGCCAACCCTAAAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCTGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACC
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Task1_train_24369
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A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGCTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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Task1_train_24370
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A mutation on Chromosome 17 affecting STAT3 (signal transducer and activator of transcription 3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; STAT3 gain of function
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGCTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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Task1_train_24371
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This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGTTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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Task1_train_24372
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This mutation is located in gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; STAT3 gain of function
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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AAGGATCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGTTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATC
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Task1_train_24373
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The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTC
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TCACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCGCGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTC
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Task1_train_24374
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This mutation occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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Task1_train_24375
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This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; STAT3 gain of function
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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Task1_train_24376
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A variant was discovered on Chromosome 17, affecting STAT3 (signal transducer and activator of transcription 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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Task1_train_24377
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Consider a variant on Chromosome 17 in gene STAT3 (signal transducer and activator of transcription 3). Determine its clinical classification and disease relevance.
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Pathogenic; Hyper-IgE syndrome
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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CACATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCATGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCG
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Task1_train_24378
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Located on Chromosome 17, this mutation impacts STAT3 (signal transducer and activator of transcription 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; STAT3 gain of function
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CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC
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CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGTACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC
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Task1_train_24379
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The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC
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CATTAAAGAGCCCATCATTAGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACAAAAAATACAAAAATCAGCTGGGCATGGTGGCACAAGCCCATAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGAGGTGGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGTGATAGAGCAAGACTTAGTCTAAAAAAAAAAAAAAAAAAAAAGCCCATCATTGGCTTTATGATTACAGAAAGTTAAATCAAACAAAGAATGGCAAACCAGAGACTCCCCATCAAGACCTGCACAAAGAACCCAGAGAGTCAAAACAGCAAGTGCTGAAGGGGAACAGACAGGGCTACCCCCTCCACACTGAGGACAGCTGCAGAGATTACAGTTTTGTTTCGTTTTTTTCTTTCTCTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTAGTGGGGTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGTACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGAC
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Task1_train_24380
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Here is a variant affecting STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; STAT3 gain of function
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GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT
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GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAATGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT
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Task1_train_24381
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Gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT
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GTCTTGCTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAATGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGT
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Task1_train_24382
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The variant affects gene STAT3 (signal transducer and activator of transcription 3), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC
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CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAACTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC
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Task1_train_24383
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A genomic change on Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; STAT3 gain of function
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CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC
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CTATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAACTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGAC
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Task1_train_24384
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A mutation in STAT3 (signal transducer and activator of transcription 3), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACT
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TATGTTGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGCGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACT
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Task1_train_24385
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Gene STAT3 (signal transducer and activator of transcription 3), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCT
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TGCCAGGCTGGTCTTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGTCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCT
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Task1_train_24386
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A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG
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TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCCGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG
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Task1_train_24387
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A mutation found in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; STAT3 gain of function
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TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG
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TTGAGTTCCTGGCCTCAAGTGATCCTCCTGCTTCAGCCTCCCAAAGTGCTAGGACTGCAGGTGTGAACCCCCATGCCCAGCTGAGATTACAGTATTTTTAATTTCTCTCTCTTTTTTTTTTTTTTTTTTTTGGTGAGTCAAGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCATGGCTCACTGCAGCCTCAACCTCCTGGGCTTAAGCAATCCTCCCACCTCAGCCTCCCGAGTAGCTAGGACTACAGGCACAAACCACCACACGTGGCTAATTTAAAAAAAATTATTTTTGTATAGATAGGGTCTCACTATGTTGTCTAGGCTGTTCTCAAACTCCCAGGCTCAAGTGATCCTCCCGCCTGGGCCTCCCAAAGTGCTAGGACTATAGGCATGAGCCACTTCACCCAGCTAAAATAATTTATATATAACATATAAGTACATGTCCTCTTACACATTAAAATATACCTTATTTTCAATAGTTGCACACTCTAAATACTAATCCCTTGCCCCTCCACCCAGTCACTGTCTTCCCCTTCAAACGTGATGCTCCCAGCTCTTCTACTCTAGTGTAAACCATACTCCCATGCAGCTAATAATAATTTCCTCCAGAAACCCTTTCTTCAGACCATCTGGCACACTGACATGGTTCAGTTACAGGCAAAAAGCCATATGCTGGGCTGAAATCTGGGCCTCAAACCTTCTAGCATCTACTAAGAAGCACTGTGCCAGCAGGGCATCCTGTTAACTGCCCTCACTTTCCCTTCTCGTGTTTCAGGCATGTTTTGGGGGACGTATGTGTATTGATCCCCTCTTTATTTTTATTTTTTGACACAGTATCTCACTCTATCAGCCAGGCTGGAGTGCGGTGGCATGATCACCGCTCACTACAGCCTTGAACTCCTTGGCTCAGGTGATCCTCCCACCTCAGCCTCCCAAGTAGCTACGACTACAAATGCGTGCCACCACACCGGGTAATTTTTTTGGATTTTTTGTAGAGACGAGGTTTCACCATATTGCCCAGGCTGTATCCCCTCTTTAGACTCATGCACTCTCTGTGGAGCAGGAACTACACTACTCTAAGTGATTCTGATTCTCCTCTCAAATCCCATCGGTCACCCCAACAAAAGCACTCACTACAATTCTTTCCCATAAGGAGAAATAATTATCCCCCAGGTTATTCAGGCATTTGCCTATCTATCCTCCAAGGATCCCAAAATTTCCAACTTTTCCCAAAAATTAAATGCCAGGAACATGGAAAATCAACAACTACCTGGGTCAGCTTCAGGATGCTCCTGGCTCTCTGGCCGACAATACTTTCCGAATGCCTCCTCCTTGGGAATGTCAGGATAGAGATAGACCAGTGGAGACACCAGGATATTGGTAGCATCCATGATCTTATAGCCCATGATGATTTCAGCAAATGACATGTTGTTCAGCTGCTGCTTTGTGTATGGTTCCACGGACTGGATCTGGGTCTTACCTGTCACAGGACATGGGAAGGAAAGATCATGGAACCTACAGCTAGGTCATCTCAGAGAAAACTGCCCATTTTTTCTTTCCTCGAAGGGGAAAAGACTTAAGCCACCCTAGTGTTGAGACCCTGAACACCCTGTTCAGTGGCCTGGCACTGTGGAAATATTCAGGCTGGCTTCTAATTAAGAAGAGGCTACTAGTTGGGTCATAGAAAATAAACTTGAATATAACTACTTGCGTAAGATATATTAACAGGGTTAAGTAGAAAAAGAGATGAAGAATACAATTTAAATTGCAAAATTCTCAACAAATAGTCACTGGAGCAAGCAAAACAAAGCAAACCAATCCTTCAGCTGGAAGGATTTAGAAGTCACGCAAATGTGTTTTGCGAGTCTGAGTGAAACAGGGAGTCAAGGCCATCTCCACCCACCAGGGGGCAGTAGGTGCTTGCAACTAGAAGCAGTGATGAGGCCTCAGCAGCCACCAGCAGGTGGGGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCCGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGG
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Task1_train_24388
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The following genetic variant occurs in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATC
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GGTGGGTGGGAGCCTCCCTTACCGCTGATGTCCTTCTCCACCCAAGTGAAAGTGACGCCTCCTTCTTTGCTGCTTTCACTGAATCTTAGCAGGAAGGTGCCTGGAGGCTTAGTGCTCAAGATGGCCCGCTCCCGCTCCTTACTGATAAAGCCCATGATGTACCTGGAGCCAAGGAGGAGGAACAATGTTGTTATTGCTAACAGGGCATCCATCCCCTGCCACTGGCTTGCTGAGAGCAGGGGACTTGGTTACATCTGTGCACACTCTGTCCAACCTACCCTTCGTTCCAAAGGGCCAGGATGTACTTTTTCACAAGGTCAATGATATTGTCCAGCCAGACCCAGAAGGAGAAGCCCTTGCCAGCCATGTTTTCCTGGAGAAAAGAGTAATGGGAAAGCCAAGTCTACTGCCATCCCAGCCCTTCCCTTCCTAGGGGTGCAGTGCATCACCCAAATCCTCAGGCCCGTCTACCTTCAGGCAGGTCCTACTGGCCGCTGGACCAAGAGTTCAGGGCCTTCAAGCCAGAGCCCTCAACGACAGCCGTGCAGGTGAGCATTCCCATTCCCACGAGAATTTAACAAGATTGCTTACTTTGCAAAATTTAGCCCATGTGATCTGACACCCTGAATAATTCACACCAGGTCCTGAAGGAAAGAAAAAGAGTCAAGTAGTACATTTTCAGCTTGGGGTCAAGAGGTTATTTCTTAAAACAGAACACACACACATTCATCCCACAATGGGCCACAAAATAATCAGCTTTCACATCTTTGAAGGTAGGCACTGTTGTGTGTGTGCACATGAGGACAAACACTATCCCATCATTTGACTCACTTGTGTTGCTGGGTAGCCCAGCAGGGATGGAGGGTGATATAACAAGTCCCCCTGCTCTTCCCAACCTCGGGTGGTAGGCTGGGAACCAACAGCAGCACTCACTAACAAGCTGACATCGGGTGTCAGACAGGTGTATTTGGTGGCAACAGCTTTATTAGAACAAAGCTACTTCTAGCCCAGGTGGCACATAAAATATTCCACTAATTCTTTTTTAAAAACTAGCCTACGCTGGGCACAGTGGCTCAAGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCGGATCACGAGGTGAAGAGACGGAGACTATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGCTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATC
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Task1_train_24389
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This variant impacts the gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT
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TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGTTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT
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Task1_train_24390
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Consider this mutation in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; STAT3 gain of function
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TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGGTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT
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TATCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGAGCACCTGTAGTCTCAGCTACTCGGGAGGCCGAGGCAGAAGAATCGCTTGAACCCAGAAGGCGGAGGTTGCAGTGAGCCGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCGTCTCAAAAAAATAAATAAATAAATAAAATAAGACAAAAAAAACCAACTAGCCTATAGTTTATTAAAAAAATGGACAGGGAATGTCAAGCCTTTAGTGCCACCTTCCAACACACACTTAAAAGATCTTCTAAAGTTAGATAGAGTGGGTGAATGAGACAGCAACCAGGAGAAAAGAAATCTACCTCCCACCTCAAAAATGATCACCTCGACTGAAAACTGCAAACTGTCTCTGCACCCCAACTCCCCAACTCCCCTGTTTCCTGGCACCAGCACAGCGCCTTGCTCAGGAAAGAAACATGGCCTAATGCTCAGTAGACATGGCCCAAATGAACAGCCCTATGGGCCGGATCCCTTTTCTGGGCGGGTGGGCGGGAGGGAGAAGGGGTGAAATGCGGACCCAAGAGTTTCTCTGCCAGTGTAGTCAGCTGCTCGATGCTCAGTCCTCGCTTGGTGGTGGAGGAGAACTGCCAGCTCAGGACCTCGGCCACTTGATCCCAGGTTCCAATTGGGGGCTTGGTAAAAAAGTTTACATTCTATTGGAAAGAACACATTTGCTTGTTTAGATGAGGGATGGTGCTCATTGTCTATACTAGGTACCCCTAAGTCGCAAGAGATCCCGGGGCACCAACTAAAAGGAGGGGGCACTAACCTTGGGATTGTTGGTCAGCATGTTGTACCACAGGATGGACGCCCAGGCATTTGGCATCTGACAGATGTTGGAGATCACCACAACTGGCAAGGAGTGGGTCTGCGGAGGGAGTGGGGACTGAGCTGGGGAGGCAGAGGGGCTCTCACAGCCTTGGAAATCTCTTCACCCGCATCTCACGGGGCTCAGAATGAAAGGACATGCCATAAACCACACCTGCTGCCAACTCTAGGCGAGGAGTGTGAGTGAGTCAGCTCAGTGAGCACTCATAGTGGAAAGAATGCCCAGCGTGGCCACACAACTCAGGCTGCAGTCGGAATATACCGGTCCCTTGTAAAACCTGACTTGCTCAAAGCTTGACTCACAATCCACAGATTCCCCATTTTTAAGACCTTGGAGGCATTCTCCAAGACTTGAAGCTGTATCTTCACATGAAACAGGGAGGTCTCAGGAATCAAAGACCAGGATTCCTGCTTTTCTAGGTATATCTTAATTTAAAAATCAAGAAAGTTGGGAAAGGAGAATGTCATTGCCACAATTTTCTGTATACTAAACACACTGGCTGCTAAGACTCTTATGCCCAAACTTTATAAAGTCAGTTCTAATTTCTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCGTCCGCCACCATACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATCAATTTCTAAATAGAGATTTTCATATCAAGTTTGCTGAAAGCTGAATATACACACATCTTCTAAGCATTCAAGCAAGACTTTATTGCCAGATGGGATGCCAAGGATTTTTTTGGAGAAAAGTAAGCAAAAATAAACACAGTGTTAAGCAAACAGTAATCATTCCACCTTCTCTTGTAAAAATCCCAGTGGAAGTTTTTGTCCTGAGTCACCCCTGTACGTAGCCTCTCACCGATTCTGCTGCAGAACTTACCTCTAGGTCAATCTTGAGGCCTTGGTGATACACCTCGGTCTCAAAGGTGATCAGTTGCAGCTCCTCAGTCACAATCAGGGAAGCCTACAGTAACGAGAAGGACACTCTTAGGCCAGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATTGCCTGAGCCCAGGAGTTCGAGACCAGTCTAAGCAGCACAGCAAAACTCCATCTCTGCAAAAAATACAAAAATTAGCTGGGTGTGGTGGTGCACACCTATAGCCCCAGCTACTCGAGAGGCTGAGGTGGGAGGATGGCTTGAGCCTAGGAGATGGAGGCTGCAGCGAGCTATGATTGTGCCACTGCACTCTAGCTGGGGTGACAGAGTGAGACCCTGTCTTAAAAAAAAATTAAATTAAATAAAAAAAAAGGCTGAGCGTGATGGCTCACACCTACAATCCCAGCATTTTGGGAGGCCGAGGCAGGTGGATCACATGGTCAGGAGTTCGAGACCAGCCTGGCCAATAATTTGGTGAAACCCCGTTTCTACTAAGAATACAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGATGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAATCAATCAGTCAATCAATAAAAAAGAGAAGGACACTTTTCCTCAGAGAGAATGGCATTCAGTACTAACAGCCACAGCCAAGGAAAGTGACATGCCAAGCCTCACCACACCAAGAAGGGTAAGCCACCAGGTGGTCACAAACAAACTGCCAGGGACACAACTTGCTCGGCACTTACTCTCTTCAACACCAAGAACTTCCAATGCTGTGATCCTCAACCTAATCCTTTACTCAGTTTGTATTATAATATTACATAGATCCAATTGGTTATTTGTAAAATACGTAAGGCACAAAGAATAACAAAACAATATGAACCCACCATTCAATTTAAGGAAAAGTCCATCACTCCTAAAATTCTCTGGGTGCCCTTCCCCAACCCCATCCCCTTCCCTCCTCCCTCAGAAATAACTGCTATTTTGTCTTTTGGGTTTATCATTTCCTAGCCCTTTTTGTCTTGTTTTGTTTTGTTTTTTTACAGTTTTACCATATTTGTTTATCTAAGCAATGCAGGTATTGTTTAGTTTGGGACATTTGTGAACCTTACACTTATGGACTCCAATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTT
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Task1_train_24391
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This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; STAT3 gain of function
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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Task1_train_24392
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This sequence variant lies in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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Task1_train_24393
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The gene STAT3 (signal transducer and activator of transcription 3), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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Task1_train_24394
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A variant was discovered in gene STAT3 (signal transducer and activator of transcription 3), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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AATGAATTCTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTTGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTA
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Task1_train_24395
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Given a variant located on Chromosome 17 and affecting STAT3 (signal transducer and activator of transcription 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAA
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CTTTTGGGATTCACTTTTCACTTGATGTGAAATGAATCCACATGGTTATGTGTATCTGCAGTGTATTCCTTTTCACAGCTGCGGAGTATTCCATTGTGTCTATACCACAAATAATGTATTCATTCTAATGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCCTTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAA
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Task1_train_24396
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The gene STAT3 (signal transducer and activator of transcription 3) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT
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TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTATTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT
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Task1_train_24397
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A variant found in Chromosome 17 affects STAT3 (signal transducer and activator of transcription 3). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; STAT3 gain of function
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TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT
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TGTTGATGGGTATTTATTTGGGTTGCATTTAGAGCTTATAATCAGGCTGATGTCCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTATTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAAT
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Task1_train_24398
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This variant lies on Chromosome 17 and affects the gene STAT3 (signal transducer and activator of transcription 3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; STAT3-related early-onset multisystem autoimmune disease
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CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAG
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CCACTTTATATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTCTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAG
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Task1_train_24399
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An alteration has been detected in STAT3 (signal transducer and activator of transcription 3) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Hyper-IgE recurrent infection syndrome 1, autosomal dominant
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ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTGTGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATC
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ATATGTCTCCTGGGACATATATGCAAAGATTTCTCTGCTATTAAATCCTGGGAATGGCACCGTTGGTTTACAGGTATGTTCATTTTTATACTGCCAAATTGTTTTCCAAACTGACTACAACAATGTCTCACATCAGTACAGCAACCTTATTTTAAGTAAGAGTTGTCAATGAATTCTCAAAAATTGAATTCTAGTCTGGGCACAGCGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGATGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCATGCACCTATCGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCAATCCGATAGAACGAGACTCCGACTCAAAAAAAAAAAAGAAAAAAGAAATTAAATTATAATTCATTTTTAATACTATTTTTCTGATTATAAAAGTAATATATTCAGTTTAAAATGCAAATATCACAGAGACAGTCTAGAATAGCCATGGATACCAACAGCAGCACTAATACACATAGCACTGCTGGTATATTCCTCCAGAATTTCTTAATATACATATGAATACACATAAGAGTATAGTGTATTTTTAAAACACATATACTAATAATACTATTCAAATTATTTTACATTTTGCTTTTTCTTAATATGTCATGTACATTTTCCCATATCATTGCATACAGGCTACTTCACTCTACTGTCAAGTAAAATTCCACATTTTTAAAAAGGACTGCTACATTTTATTTTATTTATTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTAGAGTGCAGTGGCAAAATCTTGGCTCACTGCAAGCTCCACCTCTCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCCAGTAACTGGGACTACAGGCGTGCACCACCACACCCAGCTAATTTTTGTATCTTTAGTAGAGACGGGCTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGACCAGCCTGCCTTGGCATCCCAAAGTACGGGGTGTGAGCCAGCACGCCCAGCTAGGACTGCTACATTTTAAAGAGGAAGAATTGTTCAGGGGACAAATGTAAGAAAAAGAACGGGGCATCACAATTTTTAAAAATGACTGAAAACTAGCCTTCCGTCACATTTACCTTTTTTTGTTTGTTTGTTTAAAGTTTATTCTTGACAATAAGAATCCAATAATCTGAATCAATGAAAAGCAGAAAATAAGGGGGATAAAGAACAAGATGGGTTTTTGTTTGTTCATTTTATTTTATGTACTCTTTTCCTAAGCAAGCTAATGCAAGGTGGTCATTTATTTTAAAGTTTAACTCAAATCTGTTGCTTTTACACCCTCTATCCCACCTCAGTGGGAGAGAAAAACAGGGCACTAAAAATGGAGCCAAGCAGGGTCAGCCGCAGGAGCTGGATGGGGAATTTGGAAAGCCCCAGGCAAGGTGGAAAGCTGCTTTATACCACATGGGTGTGGAGAACAACTCAGCAAGGGACTTTCCACTTCTCCTTAAGGAGGAGCCAACTCCCAGATATTCACGGAAATGTTCCAAGCCAGAGAGCTCCATGGCACATGGAACTTCTGTTCATGTCACTTTGGCCTGAAGTGACTTTTTGGAATAACTACAGCTGAAAGAACAGGTTGATGTTTCTAATTCTGGGGATTAAGAAGGATCTTTACCCCTCTCTCCCTCAAGGAAAACACCCCAGTTGTCTTTCATCCCCAACAAAACTTACATCACAATTGGCTCGGCCCCCATTCCCACATCTCTGCTCCCTCAGGGTCTGTAAGAAAAGAAAAAGGCAGGTGTCCTGTGAGGCTCTCCCTAGCCCTCTCCGGCAGCCAGAGGCCCTTTGTGAAGGGGAGCTCCTCCCACATACCAAGTGTTTGAATTCTGCAGAGAGGCTGCCGTTGTTGGATTCTTCCATGTTCATCACTTTTGTGTTTATGCCCAGAATGTTAAATTTCCGGGATCTGAATCACAGGGGAACAATCAACTATGTAGGTGACCAAGTAGCCGGAGGATGAAGTTAGGTTAAACGGAACAAAAGGAAGCCTCTAGGCTGAACTTACCCTCTGAGAGCTGCAACGTCCCCAGAGTCTCTGTAAGAACACAGACTGTTGTTAATAAAATAGGCTCTGTGTTTCTTCAAAAAGCCTACTTTGACCACCTGTTATTTACTGTCATGAAAAAACCTCTGTGCTCCTGGGCATTTCTTTAAACTATTCAGTTACAGTTGATCAGCGCAACATAACACCTCTGCGTAGCAGGCACAGTTGGTTGCCTCCCCATAGGAAGGGGAACCTATGTTTCATATTGCATATGTACTTATTAAACCTACCACCTTCGTCAACTCCCTTATTTCATTATTTTCCAGTGCATCCTCATGAAATTTCCACATAATTACATCAACTAAAAATAAGAATGCATTTTATCTTTTCTTTTTTCTTTTTTTTTTTTTGAGATAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACCACAACCTCCACCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGTGTAGCTGGGATTACGGGCATGCGCCAACACACCTGGCTAATTTTGTATTTTTAGTAGAGACAAGGTTTCTCCATGTTGGTCGGGCTGGTTTCGAACTCTCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCAGCCACATTTTCTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAGTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTACCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCACATTTTCTCTTTTCTAATGTCGTCAAAGGGTATATGTATTTTACATCCTGAAAGGTATTGTGAAATTTTGCGTATTCCATTATATGGTAAAGTGTGGAACAATTAAAAAAAAGAGATCTATTCTTTCCACATGCTATGTATGGAAAGAATATATAACGACGTTTCGGTCAACAACAAAATGCATATATGATGGTGGTCCCATAAGATTATCATGGAGCTGAAAAATTCCTACTTCATTGAGATGTGTTACAATTGCCTACGGTATTCAGCACAGTAACATACTGTACAGGTTTACAGCCTACGACCAGTAGGCTCTGCCACATAGCGTAGGTGTGCAGTAGGTTCTGCCACCCAGGTTTGTGTAAGGACTATATACTCTACAACATTTGCACAACAAAATTGCCTAATGATACATTTTGCAGAACGTATCCCAGTCGTTAATTAACACATGATCTCAGTCTTATATATAATATGCATGAATGACATGTACAAGTAAAAAACTAAACAAGGAAAAGAGGGACTGGTTGTCACAATAGCAACCACAAATCAAATCTGTACCCCCAGCTTTGTGGCTTTGTTCAGACACGTAAATGACAATGCACCCCAAGGCTTTTGAAAACTTTTGTCCACAAAATGAAGATCTCTGAATAAAGACAGAGTCTCTAGTTCAAATGATGTCTGTCAAAGTTCTCATTTTTCTATTCCTCATTTGAAAAACAGAGCTAAGATAGGAGTACTTACTTGTCAATGCACACTTTAATTTTAAGCTGATAATTCAACTCAGGGAATTTGACCAGCAACCTATTTAAAAAGAAAAAATCCAAGGAAAAAAAGTCAGTAACTCTCCCATAACCTTTTCTTGAAGAAATGTAAAATTCATAATTCTTCATTTCCAACAGGTAAATAGGCCAAGCTGTCTATAATTACAGGCTCACATC
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Subsets and Splits
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