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_24700
|
A mutation on Chromosome 17 affecting SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal dominant distal renal tubular acidosis
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Task1_train_24701
|
This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Southeast Asian ovalocytosis
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
|
Task1_train_24702
|
Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; BLOOD GROUP--SWANN SYSTEM
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24703
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Given this variant in gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; BLOOD GROUP--WALDNER TYPE
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24704
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Gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) 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; BLOOD GROUP--FROESE
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24705
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The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), 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; BLOOD GROUP--WRIGHT ANTIGEN
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24706
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The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), 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; Hereditary spherocytosis type 4
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24707
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This alteration in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Malaria, susceptibility to
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24708
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The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), 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; BLOOD GROUP--DIEGO SYSTEM
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24709
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A sequence alteration has been identified in SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Inborn genetic diseases
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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CATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGTGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCAC
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Task1_train_24710
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This alteration occurs within gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACT
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ATTTTGCATTTTTTTTTCTTTTTCTTTTTTTTCCTAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATTTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTTTCCTGCTTCAGCCTCCCAAGTAGCTGGGACTACGGGCACATGCCACCACACTCGGTTAATTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTAGTCAGGCTGGTCTCAAACTACTGACCTCGTGATCCCCCCGTCTTGGCTTCCCAAAGTGCTAGGATTACAGATGTGAGCCACCTCACCTGGCGCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTCGTTGCCCAAGTTGGAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCTCGTGCCACCATGCCCGCCTAATTTTTTGTATTTTTAGTAGAAACAGGGCTTCACCATGTTAGCCAAGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCTCAAACTGTTGGGATTACGGGCGTGAGCCACCGCGCCCGGCCACGTTTTTTTTTTCTTAAAAAGAGCTCTCCAAATTATACAACTTCTGGTCCCACAAAACCTGGAACTGCCCCTGGCTTTTCACTATTCCTGCTAGTCGGGAGGGCCACACACCCGCAGGGACTAGCTTGCAGTCCTGGGTCTCTTGCCTGCCTGGGAGAATGCCAGGGAAAGGTCCCTGCCTCCCACCCTCCCAGGCCCAGCCCCCACCCTGTCTCTCACGTGGTGATCTGAGACTCCAGGAATATGAGGATGAAGACCAGCAGAGCAGGCAGGGCGGAGGCAAACATCATCCAGATGGGAAACTCGGAACGCAAGCCCAGTGGGTGGATGACCCAGCCCCGGGCTGAGGAGTTGGACACCTTGAAGCCATCAGGCACCGAGAGTTTCTGTGGGAGGGGGTAGCAGGTAAGAATGCCAAGGGCAGGAGGATGGGGAAGGGTGGGAGCAGGAGGAGCCAGGGTCCTAGGGGTCGGGCAGTTAGGTTGGAGGCACTTGGGAACTTACTTATATTGAGCACTTGCTCTGTACCTAATCATTACACTAATCCCTTTACATCCATCTGCTCGTTCCCCACTTTAAAGATGAGGAAAGAGAATCAGAGAGGTTATGTAGCTTGCCCCACATCACACAGCTATTTGATGGCAGAGCTGGGATTCATGCCTAGATCTGCCTGGCTCCAAAGAATACTTCTTCCTACTGCTCTGGGTTAAGGAATGAAGGTGGCAACCTGGCCCAGCACCTTGCTTTGGCCACAGGGGTCCTCTGGGGCTGTGAGAAGCACATGGGACTCCCAGAGGAGGCAGGGATGGGGTAGAGGTAGTCCCAGCTGGCTTCAGGTTGGGGAAAGCTATTCTAGGGAAGGGGCATGCTGGGGGGTGGAAATGAGGACCTGGGGGGTATCATGGTCTGAGGGCTGGGAGGAGGGGTCACCTGGGTGTAGGTATCCTGAATGAAGAAATCCACCAGGACCATGATCAGGATGGAGATGGGGACCCCGAAGTCCCCGATGACCCGACGCAGCTGGGGGCAGGTGAAAGGACCAGTGGTCAGTGCCCAGTCACTCCCCACCTCCTGCCTTCCTCCTGCCCTATATTCACCCACGGGGCCCTGCTCTTCCAGGGGATCCATCAGCATCTAATGCCCTGTCCTGCACCTCAGCTATGTCTGCCTCCTTTCTTCTTCCCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCTCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACT
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Task1_train_24711
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The variant affects gene SLC4A1 (solute carrier family 4 member 1 (Diego blood group)), 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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CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGCGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACTGCAGTGGAGATCAGCAGCTCCGACACTCCCATCTGGTTCCGGGTCTTTTCTCCTGTGGGTAGAGGTCACAGTGGGATCAAGGTCAGGAGATCATTTCCAGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCATTTAAGTCTGTGGTGGAGGATAAGAGCATGGTCAGAGGGAGTAGCTGGAGGAGGTGAGGGGAAAGGGGACTGGAGGGTGTAGGGGAGATTGTCTGATGGGAATGGGGCGGCGAAGAAGTCTGGAAGATGTGGGCAAAGGGAGCGATGAGAGGGGAACATGTGATGGGAGACAGAGGCTACGCTGAGGTGTCTGGGGGTCGGTGGGGGCTCAGAAAGCCTCAGCTGGGAAGGGCAGGTACCTAGGCCCTTGTAGAAGCTGGAGTCTGGCTTGGCAGGGCTGGACTGATAGCGCCTTCGAAGTAGCTCCCTCTGCACAGGCACCAGACTGAGCAGTGCCTGCTCGGAGGGGGCATCGGTGGGAGGCAGCACTAGGCTGCAGTCCAGGAAGCCCTCTAGGGAGTGCAGCAGCTCCCCTCGGCTCTGAGCCATGTAGGCATCTATGCGGAACACCTAGGGGCAGGAGACAGGGTCAGAGCTGCCCGGACCTGCGGAGGGAAAGGACCCAGGAGTCCACAGCCAGGGCCTCCAGGAACCAGAACCCCCTCAGGCAGCAGCTCCCATTGCCAGGAACTGCTTTTCCTGCCCGCTCCCACCCCTACTCTCCCCACTAAGAAAGAGCTCTGGGGAGACAGACGGGGGCCCTGGGTGGGGAAAGGAGAAGGAACTAAAGCTAACCTGGTGGGTTAAGCAGACTAGATGAAACTAGAGCTGACTAGGCCCGACCAAGCCTGACCTGACCAGGTGGAACCAGGTCATAGTGAGCTGGACTAGACTAAGCCAGGCCAAAGCCAACCAGACGAGACCAGGCCAGAGCAGGGCCAGACTGCACGCCCCGACTGCCCCCGCCAGGTAGGATAGCAGCAGCTGGATTAGGCTGAATGGGTCAAACCAGTGAACCTAAAGTAACCCAGGCCAGGTTGGAGAGCAGGCCTCAGCCACCATGCAGGTCCCAAGCTTCCCCAGCCCAGCCCTCTCCGGCCCTTCCTTACCCTCTCTGACATGAGGGTGGCAGCAGCCCGGCCAAGCTGGGTGTAATCGATGTGGGGGGCCTCAGGTCCCAGCAACACAAAGAGGAAGCGTATAGGCACCGGCAGCTCCACCGCCTCCAGCTCCGCTGCCTCCTGCAGCCTCACGAAGCCCAGCACCGGCTGCTCCAGGAAGTCGGCGCGGCCTGTTAGGGGATGAGAAGATCAGGCCAGGCCGAGGAGCCCAGGGTGGGTGTGCTGAAGAGATGGGGCTGCGGGGGTCCAGGCTGAGGGAAAGACAGGCTGAGCCAAGACACGAGGGGTGTGGAGGGCTGAGGGTAGAGATGCCTGTTCTTACCCACTAGCACCAACGTGGCCTCTGAATCCGGGGGAATCTTTTCCAGAATTCCAGATGG
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CCCCAGCAGTTCTCAGGCTGGGCATGCCATGAAAGTGGGAGGGGCTTGCCCATAGAGTGAAACCCTAGGTAAGGATAGGGCCAGGGGAGGTTGGAATTGGGAATGGGAATCTGAAAAAGAAGGGAAGCTAAGGGCACTGAGGAATTTGGAGCGGGGGGGCTTTGGGCTGGGATAGGGCAGTGTTGGCAAGGACAGGCGAGGAGGGTATGCTGACCTTGCCAGGGAAATAGGAGCTGTTCTTGAACTTGCGCAGCATCATGGCAAAGAAGAAGGTACCGGCCATGAGCACAAGGGAGAGGAGGGCTGTGTTGGGCAGGGGGCCCTGAGGTTTGGGCACCATCAACACGTTGTAGTTATAAGTCTTCTGTAGTGGGTGGTCCTGGAAGATCTGCAGCAGAAAACCAAGGCATTCTGTTCTCTCCCAGCTTTGGCTTGGGCTGGAAAATACCACCAGCTAACTCTACCCAGCACTACTATCCATTCATCCAGTCATCTATTAATTCATCATCCATCCATTTATCCACCCATCCATCATTCATCTATCCATTATCCATTGATCATCCATTGATTATTCATCCATCCATTCATTATCCATCTACCCATCCATCCACCTACCTATCATCTATCAACCCATTTATCCATCCATTCATCCGTCCATCATCCACCCACTCATTCATCAATCATCCATCCATCCAACCATCCATCCATCCATCCATCCGTCCATCCATTATCCATCTATTCATCCATCCATCCATCTATCTTCTTCCTCAATTGACATGGAAACAGAGGATAAATGGGATTCTACAGCTTGGTTTTCAGGAATGAAGACAGCCTAGGTTTAGGCAGGGAGGGCCATGGAAGGCAATGGGTGTGTGTGCGAGCACACATGTACACCCAGGACCTGGGAGACATGAGAAGGCTGGAGGTCAGGAAACAAGGGTCAGGGAAGTTTCTAACAAGGGGTTAAAAGACCTGGACACAGAAAGACCCTCCATCCAACAGAATCAGGGGACAACACATAGGGCTCACCCTTCTCCCATATAAAATGCAGGTACAAAGGCAAGCAGAGCTTAAGATGATGGGAGCCAAGCCAAGGTGGCTGGGCACTCCATCCACAAGCCCTGCAGCTCTTGAGGACAAGCACAGGGGAGGGAGTGGGGGACTTCAGAGGCTCCAGAGTCCCCCCAGCTCTCACTGTGCATGTACTTTCACATGCTCAGTGTCATGCCCATACCTACCCATTGCTCACGTCATGTGTGGTCATGAACTGGACATGTGCACACAGAGGCACCCTCTCATGCCTCAGCAAGAGTGCTGGCCACAGGCAGCAGGTGCCAACACATATGTGGTCACAGTCAACACAGCTGCACAGTCCTGTGTGCAGATGTGTGACTACACAGACATAGACACATATGTTGACACAGACACATATGTTGTCACAGTCATGTGCACAGTCACATGGTTATGTACACAGGTGAAAGCAAAGACACACAAATGCTGCACAGACACATGTGCGAGGACACAATGGCTCAGTCTTTTTTTTTTTTTTTTGAGACGGATTCTTGCTCTGTTGCCCAGGCTGGAGTGTAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCAGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGATGCATGCCACCACATCTGGCTGATTTTTGTATTTTTAATAGAGATGGAGTTTCACAATGTTGGTCAGGCTGGTCTTGAACTCCTGATCTCGGGTGATCCACCTGCCTCGGCCTCCCAAAGTTCTGAGATTACAGGCCTGAGCCCTCGCACCCGGCCACTGTCTCAGTCTTATACACAACCTCCCGTGTGCATTAACATCCCCATAGGCCCCCACCTTGATCAGCTTGGAGAAAGTCTCATAGATGAAGATGAGGGAAATGAGGAAGGAGAAGATCTCCTGGGTATAGCGGGAGATGAAGCGGACCAGGAAGCTACCCTCGAAGGCCACCACCAACACCACCAGCAGGATGAGCCAGAAGCCGATCCACACGTGGCCCACGATGTACTCTAGACCGTTGGTCTCGCAGAACTGCAGGGTGGTCAGAAGAAGCCGGTCAGTCAAAGGGTCTTGGGGCAAGGCACCATGCATCAGGCAGGTGGTGCGGGGGACATGACAGGGTCAGTGGGGCAAGGACAGAACTACCGAGAAGAAGGCTTCCTCAAACACCAGCAGGGGTCCTGAGAAGCCGACCACAAGCAGGGGCTGAGCCCCCAGCAGGGCGAAGAGAATGCCCTGCACTGCAGTGGAGATCAGCAGCTCCGACACTCCCATCTGGTTCCGGGTCTTTTCTCCTGTGGGTAGAGGTCACAGTGGGATCAAGGTCAGGAGATCATTTCCAGGAGCCCATAGAGCAAGTCATGGTCAGGCTGATGCAGGGGTCTGGAGGGTCAGACAGAGTCAGAAGTTGGGGCTGAGACAGAGGCCAGAGGGTCAGAGGCAAGAGTTAGGGAGACAGGTATTGGCACTGACCCAGGAGGCCGCCGAAGGTGATGGCGGGTGACAGTGCAGCAAAGTAGATGAAGATGACGGCAGCCAGGACCTGGGGGCTGAATGCATCTGTGATGTCACTCAGGTAATAGGGGTAGCGGCGCCGGATATCACGCACCAGGCCCCCGAAGAGCTGGCCTGTCTGCTGCAGAGGGTCATCTGGGCCCCCATTTAAGTCTGTGGTGGAGGATAAGAGCATGGTCAGAGGGAGTAGCTGGAGGAGGTGAGGGGAAAGGGGACTGGAGGGTGTAGGGGAGATTGTCTGATGGGAATGGGGCGGCGAAGAAGTCTGGAAGATGTGGGCAAAGGGAGCGATGAGAGGGGAACATGTGATGGGAGACAGAGGCTACGCTGAGGTGTCTGGGGGTCGGTGGGGGCTCAGAAAGCCTCAGCTGGGAAGGGCAGGTACCTAGGCCCTTGTAGAAGCTGGAGTCTGGCTTGGCAGGGCTGGACTGATAGCGCCTTCGAAGTAGCTCCCTCTGCACAGGCACCAGACTGAGCAGTGCCTGCTCGGAGGGGGCATCGGTGGGAGGCAGCACTAGGCTGCAGTCCAGGAAGCCCTCTAGGGAGTGCAGCAGCTCCCCTCGGCTCTGAGCCATGTAGGCATCTATGCGGAACACCTAGGGGCAGGAGACAGGGTCAGAGCTGCCCGGACCTGCGGAGGGAAAGGACCCAGGAGTCCACAGCCAGGGCCTCCAGGAACCAGAACCCCCTCAGGCAGCAGCTCCCATTGCCAGGAACTGCTTTTCCTGCCCGCTCCCACCCCTACTCTCCCCACTAAGAAAGAGCTCTGGGGAGACAGACGGGGGCCCTGGGTGGGGAAAGGAGAAGGAACTAAAGCTAACCTGGTGGGTTAAGCAGACTAGATGAAACTAGAGCTGACTAGGCCCGACCAAGCCTGACCTGACCAGGTGGAACCAGGTCATAGTGAGCTGGACTAGACTAAGCCAGGCCAAAGCCAACCAGACGAGACCAGGCCAGAGCAGGGCCAGACTGCACGCCCCGACTGCCCCCGCCAGGTAGGATAGCAGCAGCTGGATTAGGCTGAATGGGTCAAACCAGTGAACCTAAAGTAACCCAGGCCAGGTTGGAGAGCAGGCCTCAGCCACCATGCAGGTCCCAAGCTTCCCCAGCCCAGCCCTCTCCGGCCCTTCCTTACCCTCTCTGACATGAGGGTGGCAGCAGCCCGGCCAAGCTGGGTGTAATCGATGTGGGGGGCCTCAGGTCCCAGCAACACAAAGAGGAAGCGTATAGGCACCGGCAGCTCCACCGCCTCCAGCTCCGCTGCCTCCTGCAGCCTCACGAAGCCCAGCACCGGCTGCTCCAGGAAGTCGGCGCGGCCTGTTAGGGGATGAGAAGATCAGGCCAGGCCGAGGAGCCCAGGGTGGGTGTGCTGAAGAGATGGGGCTGCGGGGGTCCAGGCTGAGGGAAAGACAGGCTGAGCCAAGACACGAGGGGTGTGGAGGGCTGAGGGTAGAGATGCCTGTTCTTACCCACTAGCACCAACGTGGCCTCTGAATCCGGGGGAATCTTTTCCAGAATTCCAGATGG
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Task1_train_24712
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The following genetic variant occurs in GRN (granulin precursor) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Neuronal ceroid lipofuscinosis 11
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AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
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AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCGTGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
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Task1_train_24713
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Here is a variant affecting GRN (granulin precursor) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
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AAAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCGTGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCT
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Task1_train_24714
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A genomic change on Chromosome 17 affects GRN (granulin precursor). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Neuronal ceroid lipofuscinosis 11
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AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
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AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCACGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
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Task1_train_24715
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A mutation in GRN (granulin precursor), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
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AAAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCACGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTT
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Task1_train_24716
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A genetic alteration is present in GRN (granulin precursor) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTT
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AAAAAAAAGAGAAAAAGAAAAAGAAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATATGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTT
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Task1_train_24717
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A mutation on Chromosome 17 affecting GRN (granulin precursor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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Task1_train_24718
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Here’s a variant in GRN (granulin precursor) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Neuronal ceroid lipofuscinosis 11
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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Task1_train_24719
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A mutation found in GRN (granulin precursor) 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; GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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AAATGCCATGTAAATAGTTGTGATCCTGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGACTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTG
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Task1_train_24720
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Located on Chromosome 17, this mutation impacts GRN (granulin precursor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Parkinsonian disorder
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TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTGCAAGGTGGTGTAAGCGGTACCCTCCA
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TGAATTGTTTAGGGAATAATAAGAAAGAACTATCTGTAGATGTTCAGTATAGATGCACCCATCGTAAGCCTAACTACATTGTATAACTCAGCAACGATGTAACATTTTCAGGGGTTTTTTTGTTTTGTTTTTTGAGACAGAATCTCAGTCTCACTCTGTCACCCAGGCTGGAGTATGTTGGCGTGATCTCTGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTGCAGGTGTGCGCTACCACGCATGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTTACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTGGGATCCGCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCGCGCCCAATATATTTTGATCCCTGGTTGGATATGGAGGGCTGACTGTACTTAACATCTCTAAGCTTCAGTTTCCTCCTTTAAAATAAAGGTGTGGCTGGGTGTGGTGGTTCAAGCCTGTAATCCCAGCACTTAGGGAGGCTGAGGTGGGTGGATCAGCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAATATGGTGAAACCCCCTCTCTGCTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGAGCGCCTGTAGTCCCAGCTACTTGCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGTGCCACTGAACTCGAGCATGGGCAACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAGGGGGTGAGCAGACGTGGTGGCACGCTCCCACAGTCCCAGCTACTTAGTAGGAGGCCAAGGTTGGAGGATTGCTTGATCCCAGGAGTCTGAGTCCAGCCTGGGCAACATGGCAATACCTCATCTCTAAAAATAAAATAAAAGTAAAGGTATTAATTACTACTTTGGATGGTTGTTGCAAAGAAATATATATAAAATAATGGAGAGTCTTGTAACTGGCTCCCAAGAGGCTCAACAGACATTACTGTTTTTGCTTCTTCATTATGAGTTACCTCTCTGGCCACCCCACTGAACTAGCTGGGCTAGCTGAGCCTGGGAGAAGAGTTGTTTAGGAAGTGAGAGGCTGCTCTCCACAGAGACTCAAGGCTCAGTTCCTCCTGGTGACTCAGATGGGCAGCCCAGTGGGCACACGTGGTCTCTCTCCACATGTGGCTGAGTTTCACTTCCAGAATAGATGGAGAGGCAAGGGCAGGGTTTAGCATGCTTGAGGAATCTCAGAGGGCCCTGGTGGTGTGGGGGACCCTCAGAACACAGGTGTCTCAAGGGCTGACCCAGCTTCTGTGTCCTTTTCTCTGGGTGAGGAGGGGACATTCATGGGCAGATGGTGACCTCTGGGGAAGGCAGCCCAGACTCCACTGGCCACCATATTTCCTTTTTCACAACTTTCTCACCCCTGTGGTTTCCCATGTCATCATGTGGCCGCTTCCCGCAAGGCCTTAGCGGGGTGCAGGTATGAACATAGTGTCAGGCAAGGAGGCATCTGGAGGGGAACCCTGGCTTTTCCTGGGGGGACTCCCTCCCTGCACCCTAGCCCTGTCCTCTCCCATGGCTACTGATGCCTTCCCCTCACCCCAGAGGTGGCCCACATCTGCACAGATCAGACCCACAAAAATCACGTCTTCCTGACTCTCATAAGCCTGCCCAGTGAGGCCCAGGCATTAGGCCATGTGCTGGGGACTCAGACCCACACATATACGCATGTCAGCATTCATGCTTACAGGTCCGCACATGCTGGGGCAAGTGTCACACACGGGGCGCTGTAGGAAGCTGACTCTCAGCCCCTGCAGATTTCTGCCTGCCTGGACAGGGAGGTGTTGAGAAGGCTCAGGCAGTCCTGGGCCAGGACCTTGGCCTGGGGCTAGGGTACTGAGTGACCCTAGAATCAAGGGTGGCGTGGGCTTAAGCAGTTGCCAGACGTTCCTTGGTACTTTGCAGGCAGACCATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAGCGCGGTGCCCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGCTGCTGCCGTCCCCTTCTGGTGAGTGCCCCTCAGCCTAGGCAAGAGCTGGCAGCCTGGGTTTTCCCAAAGGGTCATCTTGGATTGGCCAGAGGAGGACGCCAGGCACAAGTCTGTGGTTTATCATTTTCCCTGTCTTTCTAGGACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCCTGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACTTCCAGTTGCTGCCCCTTCCCAGAGGTGAGCGTGCCATCAGCCCAGTGGAGGGGCTTAGGTCTGCATTTATGCTTTTCCTGCACTCTACCACCTGCAGATAAAAGGGCCCTGCCAATGCAGGTTTCTCTGTGTTCCACAGGCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCACGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAGGTGCAGCTGGGGTGTGGGTGCAGGGCAGGCAGACGGGCAGCATGTGGAGTCTGGAACCCAGGAGCCCAGCTGGCGGGGGCAGCCCTGATTCCTGCCCTTGTGCCCTCATTCATGTGGCATCTGTACTAAGCAACAGCCCTGCTGTGGACAGAGGGGCAGCACTGGGGATAGGAGGGTGCGGGAGAAAGTGCAAGACTCCAGGTCCAGGCGTTGTGGGGGTGGGGAGAGGTCGAGCTGGGCCGGTCTAATACCAACCCATGGTCAGTGGGTGCCCCTTCCCCATGCCATCTTGCTGAGGGAGGGACTGGATTGTGAGGAGGGTGAGTTAGGCCTGCCTAGGAGATCACTGAGCCTTAGTGTCACCCTCAAACCCCAGTAGCTGGGCTTGCAGGCCCTGGTGCCACCAGCTCCTTGTGTGATGGGGGAGTCACCTTCCCTGAGTGGGCTGGTAGTATCCTGGGTCATCTTGTCCACAGGTAACAACTCCGTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAGGTACAAATCTGGGGGAGATGGGGGTATGTGGAGGGAAGTGGGGGCAGAGTTGGGGGCCAGGGGCAGGGGGTGAAGACGGAGTCAGGACCATTTTTTCTCAGGCTTCCTGCTGTGAAGACAGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACACCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAGGTGAGGAGGTGGGAGAGCATCAGGCCAGGGGCTGGGGCGGGGCCTCATTGACTCCAAGTGTAGGAAAAAGTTTCCTCCATCCTGGCTGCCCCTCACGTTTGCTCCTCTTCCAGTGGCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACCTGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAACGTGAGTGAGGGGCTGGAGCCAGCTTGGCTGTGTGCCCCCAGCCACCTGGCCCTGACACGCACCTTACAGGGGCTCTGTGGCATGGGGCTGGCTGGCTGCTTGCTGGGAGCCTGGCTGATGCAGGGTTCATGCTACCCCCTAGTGGGGGATTGGGGCAGTGCCAGCCATCAGCCTGGCTGCTCCCTGTGTGCTACTGAGCCTGGAAGTGACAAAGACCCACCCCTGTCCCCACTCAGGCCACCTGCTGCTCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGCCTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAGGTACCAGAGGCAGGGTGCAGATACAGGGGTGGGGCCCCCTTTCCTCCCTTTTAGGCCTGGCCTTAGGATCACTGCAAGGTGGTGTAAGCGGTACCCTCCA
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Task1_train_24721
|
This sequence change occurs on Chromosome 17, altering ITGA2B (integrin subunit alpha 2b). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Glanzmann thrombasthenia
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ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTCACCTCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGTGGACTACCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCATGAACCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACCACGCCCAGCCTGGAATTTTTCTTATACTGAAGTTTGTGTCTGCATGACTCGAGCATATGATGATATGTATTTGATTATTGTGGGTCTAGTGCGTGGTTTTCCCTAAAAGCACCATGTCTTCCCTTCAGTGTGCTTGAGACTCCTCCAGGTGCAGAGGAGCGAGTGACCCTCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAG
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ACCTGGGGGTACACGGGGGCCAAGGTCAGGGTATACAGATGATTTGCTGGCCCCAGAGCACATGTGAGGAAGTATGCTAGCTATGAGCACCTCCCTGGACCAGCGCAGAACATGAAGCCCACTGTACTCACAAATGGATGCCTTTTGACATTTAGAGATAATGCATGGAACGAATTGTTGGGTTTTTGTTTTTTCTCCCCTGAGTTTTTATTTTTTTCTTTTTTTTAGAGGGAGTCTCACTCTGTCACCCAGGCTGTAGTGTAGTGGCTCGATCTCGGCTCAGTGCAGCCTCCACCTCCCGGGTTCAAACAATTCTCATGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGTGTGTGCCACCACGCCCAGCTAATTTTTAGTAGAGACAGGGTTTCACCCTGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCATTGTGTTGGGATTACAGGCATAAGCCACTGTGCCCGGCCTCTGAATTTTTCTTTTTTATTTTATTTTTAGAGACAGGGTCTTTCTGTTGTCACCCAGGCAATCCTCTCACCTCTTAGCCTCCCAAGTAGCTGGGACTACAGGTGTGGACTACCACACCTGACTAATTTTTTTTAAAAAACTTTTTTGTAGAGATGGAGTCTCACTATGCTGTCCCAAACTCCTGGCCTCAAGTGATCCACCGCGCCTGGTCCCCACCTGGAATTTTTCTTTTCTTTTCTTTTGAGATGAAATCTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAACCTTCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAAGTACAGGTGCCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTCATGAACCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACCGGTGTGAGCCACCACGCCCAGCCTGGAATTTTTCTTATACTGAAGTTTGTGTCTGCATGACTCGAGCATATGATGATATGTATTTGATTATTGTGGGTCTAGTGCGTGGTTTTCCCTAAAAGCACCATGTCTTCCCTTCAGTGTGCTTGAGACTCCTCCAGGTGCAGAGGAGCGAGTGACCCTCCAGGGCCACATAGGAAGGGAGGAATAGGGTCTAGACCAATCCTTGGGCCTCTTGCCTCACTCAAGGGGAAGGGCAGGGCTAGGAAGAAGTGCATCTTGTCCTTGAGACCAGCCAGGAATTCCTGAAGGCAGGACTTACACCCTCTATACCCTCTATATCCTCTGAATCTTTTTGGTGGCAGGGGTGTCTAAAGGCCTCAGAATTTCAGGTGCTATCCTTTCCAGTGGTATGTGTCTGGAAGGGTTCCCAGGAGAATGACATTTTTGTGTTTGTTTTGCCTTTTTTGCTCTACTAGAGAAAGACATTCTATTTTTTTCTTTTTTTTTTGAGATGGAGGCTCGCTCTGTTGCCCAAGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCATGCAATTCTACTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACATCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAG
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Task1_train_24722
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A mutation found in ITGA2B (integrin subunit alpha 2b) 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; Glanzmann thrombasthenia
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TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT
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TCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTGGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATT
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Task1_train_24723
|
This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Glanzmann thrombasthenia
|
CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCT
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CCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCCGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCT
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Task1_train_24724
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A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Glanzmann thrombasthenia
|
GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGG
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GGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACGGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGG
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Task1_train_24725
|
Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Glanzmann thrombasthenia
|
ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGC
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ATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACGTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGC
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Task1_train_24726
|
Assess the clinical impact of this variant on gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Glanzmann thrombasthenia
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AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCAT
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AAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCTGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCAT
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Task1_train_24727
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This variant affects the gene ITGA2B (integrin subunit alpha 2b) 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; Glanzmann thrombasthenia
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AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATC
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AATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCACCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATC
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Task1_train_24728
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This sequence variant lies in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Glanzmann thrombasthenia
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GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTG
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GGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCTGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTG
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Task1_train_24729
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A sequence alteration has been identified in ITGA2B (integrin subunit alpha 2b) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Glanzmann thrombasthenia 1
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GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTG
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GAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGTGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTG
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Task1_train_24730
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Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Glanzmann thrombasthenia
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ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTC
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ATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAGTGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTC
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Task1_train_24731
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Gene ITGA2B (integrin subunit alpha 2b) 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; Glanzmann thrombasthenia
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ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCC
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ACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTTGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCC
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Task1_train_24732
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The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Glanzmann thrombasthenia
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GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGT
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GGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACATGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGT
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Task1_train_24733
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A variant affecting Chromosome 17, within the gene ITGA2B (integrin subunit alpha 2b), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Glanzmann thrombasthenia
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AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGG
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AGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTTGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGG
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Task1_train_24734
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A variant has been detected on Chromosome 17 in ITGA2B (integrin subunit alpha 2b). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Glanzmann thrombasthenia
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AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAG
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AGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACGGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAG
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Task1_train_24735
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A mutation on Chromosome 17 affecting ITGA2B (integrin subunit alpha 2b) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Glanzmann thrombasthenia
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GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTT
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GAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAGGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTT
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Task1_train_24736
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This variant lies on Chromosome 17 and affects the gene ITGA2B (integrin subunit alpha 2b). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Glanzmann thrombasthenia
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ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGA
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ATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGCGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGA
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Task1_train_24737
|
Gene ITGA2B (integrin subunit alpha 2b), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Glanzmann thrombasthenia
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GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTG
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GCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGTGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTG
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Task1_train_24738
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The gene ITGA2B, LOC130060983 (integrin subunit alpha 2b| ATAC-STARR-seq lymphoblastoid active region 12261), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Glanzmann thrombasthenia
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TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCA
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TCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACCTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCA
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Task1_train_24739
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This variant affects the gene ITGA2B (integrin subunit alpha 2b) 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; Glanzmann thrombasthenia
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CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGT
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CTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACGGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGT
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Task1_train_24740
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This alteration in ITGA2B (integrin subunit alpha 2b) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Glanzmann thrombasthenia
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GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATA
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GGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGACTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATA
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Task1_train_24741
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The gene ITGA2B (integrin subunit alpha 2b), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Glanzmann thrombasthenia
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CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTC
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CCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTCCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTC
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Task1_train_24742
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A variant found in Chromosome 17 affects EFTUD2 (elongation factor Tu GTP binding domain containing 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTTGCTAACTGTGTGACAGTGGACAAATCTTTCTCACTGAGCCTCAGTTTCCTGATGTGTAACATGACAATAACCACCCCTGGCCTGCCTACCTTGCAGGCTGCTGTGAGGTTTCTCAGATACACAATACATGTGAAAGTGTTTCGTGAACTGTCAGATAAGTGGTTTCCCCAGGTTGTGTGGTCAGATGCTTGAAGCAGCTGTTGGGACCTGGGGCAGAAAGATGAGCGGGAAGCTGGACTCTCAAGGGAGCAGCTAGAGGTGAACCCCTAGGACGCCTGAGAGCCAGAGGACGGGTGAAGGGTTTGATGCCAAGGGGCATTATTTCTTTTCTCTCACACAGGTGCTGTGTACACAATGTACAGCGATTACGTCAAGAGGATGGCACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGG
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ATTGCTTGAACCTGGGAGGCGGAGGCTACAGTGGGCTGAGATCCGCCACTGCACTCCAGCCCGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGACTGTGAATTAAGTTCTCCTGTTCTGGGCTCCACATCACATGCTTGGTGAAGCCCCTATACTGAGCCATCTTCCCTGTTTAGGCTCCTGTCCCAGGCCTGTGGGGACAGTGTCTCATGACAGTTTGCCCTAGGGGTGAGAAAAATCATGCAACAGAACAGATGTTGAATTTCTCTTCCTCTTGAGATTAAAAAGCAGACAGCCACTTGCTAACTGTGTGACAGTGGACAAATCTTTCTCACTGAGCCTCAGTTTCCTGATGTGTAACATGACAATAACCACCCCTGGCCTGCCTACCTTGCAGGCTGCTGTGAGGTTTCTCAGATACACAATACATGTGAAAGTGTTTCGTGAACTGTCAGATAAGTGGTTTCCCCAGGTTGTGTGGTCAGATGCTTGAAGCAGCTGTTGGGACCTGGGGCAGAAAGATGAGCGGGAAGCTGGACTCTCAAGGGAGCAGCTAGAGGTGAACCCCTAGGACGCCTGAGAGCCAGAGGACGGGTGAAGGGTTTGATGCCAAGGGGCATTATTTCTTTTCTCTCACACAGGTGCTGTGTACACAATGTACAGCGATTACGTCAAGAGGATGGCACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGTGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGG
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Task1_train_24743
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This gene mutation involves EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
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GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAACTAGGGCCTTAATTCTAGTCTTCAAAGGTAGCTCTCAGCATCCATTCAGCCATCTACCACCATTCACTGAACAACCCCCATGGGTCTGACAGAGCTGGTGCTGAGACCCACTGGCGTGCACCCATGTCATTCTCAACCCACAGCATCTGAGTGAAGCTCTGCCCTGAAGCCCCAACATGGTCTGCTGCCCAGGAAACCCAGTGTTTTCTATGACACCAATCCTTCCTCCTTCCTAGATACATCAGTAGAGGAGTCTAAGAGGGGTATTGAGGGTCCTCCACAGGGCCTTGGAGAAAATACGACTCAACTAGGACAAGGAGGCCAAGCAACACATGGTTTGAGGGGCTACATCAAGGCTTGACAAAGAATCTGGGAGAGACAGTCCCCACCCTCTCCTTGAAACCACCCACTCTGAGACCTAATCACCACCCATGGGTTAATTGTTTAATTGTGCAATTATTTCCCTAACAAAGGACCAAGAATAACTTTGGCTTGGGAGCCTTTATTTTCTTTTTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTATCACCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCACCCGGTTTCAAACAATTATCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCAACCGCCTTGGACTTTCAAAGTGTTGGGGTTACAGGCGTGAGCCACCGTGCTCGGCCTGTTTTATTATTTTTCAATGCATTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCATGCTAGGGTGCAGTGGCATGATCGTAGCTCACTGCAGCCTCGAACTGCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTGCGGAGTAGCTGGGACTATAGGTGCAAGCCACCACACCTGACTAATTTTTATTTTTTAGTTTTTTGAGACAGGGTATGACTCCATCTCAAAAAGGAGAGCAATGGCACAATGATTGCTCATTGCAGCCATGACCTCCTAGGCTCAGGTTGGAGAGCAATGGCACAATCACAGTTCATTGCAGCCTTGACAGTCTAGGTTCAGGTGATCCTCCCACCTAAGCCCCCCAGTAGCTGGACTACAGGTACATGCCACTGCACTGGGCTGGTTTGTAGAGACGAGGTTTCACTATGTTGCCCAGATTGGTCTCAAACTGGGCTCAAGCAATCCTCTCACCTCAGTCTCCCAAAGTGCTGCAATTACAGCAACGGACCACCATGCCCGGCCTGGCTATTTTTTTTATTTTAATTTTTGTAGAGGCAGTGTCTCACTTTGTTGCTCAGGTTGGTCTTGAATTCCTGGCTACAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGAGTGAGCCACCAAGCACGGCTGAGCCTTGATTTTAAACGTATGACACAGCAGAAGGGGGCAAACCAGTTCTCAAAAACCTTCCCATATAAGGAGCAACAGATCATGGTTTTCACAAACACATGTACTCTCTCTTCCCTTGGAGCTTCCCAGGAATTCAAGGATTTGGTCACTTGTGAAAAGTCTGGACCGTGAACCCAGCTCCCGGCAGATACTGCTGTACCTTGATGTCTATCTCTGAGTACATCTTCCGCAAATCATGCATCACACAGTCCAGGTAGAGCTCCCCAGTGCCCAGGATCACATGCTCGCCAGACTCCTCCACCTGAAACACAACAGGCAGTCACAGCCTGGATTCTCTTATGCCAGCAAAGGCACACACAAACAAAATCAAGGCCAGAGCAGACAAGAAGTTGCCTATCAGAAACAGCTACTACTTAGCATCTGTTCCAGCCTCTTCAAGAAGGTTCAGTGAGGAGCATCTGCCTATGAGTGGGTCCTCAAGACACCAGGACCACTCAGCATGGTGATACTAGGTGTGAAGTCAATGATTTAATTCCCATCTTAATGATTTAGGTCAAACTCTACCCTATACCCATGGACATAAGCTAGCCCTTTAGCCCTCCTGGCCTGCTACCTGGAAAGGTACACTGGCAGGCTCATAGTGTACAAGGATCAGAGTAACAACTCACTTTTCCTTCTCTTCTCGAGAAAATCAATTCAAAGTATACTCATTAAGAAATGTATTTTTGTCTAGATAAAGACATCTGCGGAACACAAATACGCACACACACACACACACACAACCTTGTCCTATACCCCCCATCACTGCCCCCTCCTACACAGGTCTTGTTTTAACACACACACATACACACACACACGTGTCTTGTCCTGCCTTGACATGACAGCCATAGGCTGGGCTTGCTCCTGACACAGCTTCCTGTAAGCAGCAGATCATGAACACCTGATGGATGGGAAGCGGTGTGCAGCTCTGCCCATTCAGCTGGGGATAGTGGGGCTTGGCGGCTGCTGCAGGCCATGGGCATACCTTGGTGGTGAGGGATGGATAGCTCTTGTTGACCTTGCGCAGGCCATCAAGCATCTTGGGCAGCTCTGAGGGGTTGACTGGCTCCACAGCAATCTTGATAACAGATGTGGTATTGAACTTCAAGGGTCGGAAAATCTGAGCCTGAGATCCAAAGCACAAAGGACTGAGGGCAACTGGCATGAGCAGGCACAGAAAGTGCAGAGGTATGAGAAGAGAAGAGGACTTGCTTAGGATCAGACTATGTATTCCCCAACCAGGAGCCTGGTGCTGAGTGGGGGTAACCTGAAGGGCCATTTCTTCCCAGGTATTCTGGCAGAACAAAGAGAGGAGGAAAATAATAAAAGGCACCCGTCCTAATTCCTCGCATCTGAACTGAGTACAGGGAGAATCCAGCAGGGTCATATCTAGAAGGCTAAGCCTGAAACCAGGACATGGCAATGACTGTGGATTAGTCCCGTTTGTGCTCATGTGTGTCCCTGGGACCATCTAGCTTAAGCCAACCCAGTTGGTCTCTTCAGAAACTCTACCTCCTCATTGCCTCGGGGTTCGGTTATGGTTGCTGTCTTCACAATTGGTTGATCAACACCTTCAATCAGAACCCAGTTGCCAGCAGGAACACGGTTCACCTCGATGTGGTACCTGAAGCAATGTCCAATAAGCAGCAGTGAAACTTAGGCAGAGCATTCCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCACTTTGTTACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCGAACTTCCAAGGTTCCAGTGATCCTTCTGCGTCAGCCCCCCAAGTAGCTGGGACTACAGGCACACACTAACATGCCCAACTAATTTTTGTATTTTTGTAGAGACGGGGTTTTTTCATGTTGTCTAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACG
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GGCGTTTCAGCAAAGCACTTGAGGGAGGATGTTTCCACCACCGTCTCACAAAACGTGACAACTGGGTCAGCCACCTGGGAAACAGAAAATAAATTACTGAAGCGAGGTCTAATTTTGTTGGAAGGGCAACCATTTACCTAAGGGAATTCAGAAGCTCCCTTGACACTACCTCTGTGAAAACCCCAACTGCCTTAATCAGCACAAGTGATAAGTACAACAGCAGGTTAAAAGAGCTGTCCAAATCATCACCAAAAAGCCCAAGAAAACTTACTGTAGTAAAGAAATTAGATTCCTGAGCCAAGAGTAAGTGGGGTATCAAACTAGGGCCTTAATTCTAGTCTTCAAAGGTAGCTCTCAGCATCCATTCAGCCATCTACCACCATTCACTGAACAACCCCCATGGGTCTGACAGAGCTGGTGCTGAGACCCACTGGCGTGCACCCATGTCATTCTCAACCCACAGCATCTGAGTGAAGCTCTGCCCTGAAGCCCCAACATGGTCTGCTGCCCAGGAAACCCAGTGTTTTCTATGACACCAATCCTTCCTCCTTCCTAGATACATCAGTAGAGGAGTCTAAGAGGGGTATTGAGGGTCCTCCACAGGGCCTTGGAGAAAATACGACTCAACTAGGACAAGGAGGCCAAGCAACACATGGTTTGAGGGGCTACATCAAGGCTTGACAAAGAATCTGGGAGAGACAGTCCCCACCCTCTCCTTGAAACCACCCACTCTGAGACCTAATCACCACCCATGGGTTAATTGTTTAATTGTGCAATTATTTCCCTAACAAAGGACCAAGAATAACTTTGGCTTGGGAGCCTTTATTTTCTTTTTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCCCTATCACCCAGGCTGGAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCACCCGGTTTCAAACAATTATCCTGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGCAATCCAACCGCCTTGGACTTTCAAAGTGTTGGGGTTACAGGCGTGAGCCACCGTGCTCGGCCTGTTTTATTATTTTTCAATGCATTTATTTTTTGAGACAGGGTCTTGCTCTGTCACCCATGCTAGGGTGCAGTGGCATGATCGTAGCTCACTGCAGCCTCGAACTGCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTGCGGAGTAGCTGGGACTATAGGTGCAAGCCACCACACCTGACTAATTTTTATTTTTTAGTTTTTTGAGACAGGGTATGACTCCATCTCAAAAAGGAGAGCAATGGCACAATGATTGCTCATTGCAGCCATGACCTCCTAGGCTCAGGTTGGAGAGCAATGGCACAATCACAGTTCATTGCAGCCTTGACAGTCTAGGTTCAGGTGATCCTCCCACCTAAGCCCCCCAGTAGCTGGACTACAGGTACATGCCACTGCACTGGGCTGGTTTGTAGAGACGAGGTTTCACTATGTTGCCCAGATTGGTCTCAAACTGGGCTCAAGCAATCCTCTCACCTCAGTCTCCCAAAGTGCTGCAATTACAGCAACGGACCACCATGCCCGGCCTGGCTATTTTTTTTATTTTAATTTTTGTAGAGGCAGTGTCTCACTTTGTTGCTCAGGTTGGTCTTGAATTCCTGGCTACAAGCAATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGAGTGAGCCACCAAGCACGGCTGAGCCTTGATTTTAAACGTATGACACAGCAGAAGGGGGCAAACCAGTTCTCAAAAACCTTCCCATATAAGGAGCAACAGATCATGGTTTTCACAAACACATGTACTCTCTCTTCCCTTGGAGCTTCCCAGGAATTCAAGGATTTGGTCACTTGTGAAAAGTCTGGACCGTGAACCCAGCTCCCGGCAGATACTGCTGTACCTTGATGTCTATCTCTGAGTACATCTTCCGCAAATCATGCATCACACAGTCCCGGTAGAGCTCCCCAGTGCCCAGGATCACATGCTCGCCAGACTCCTCCACCTGAAACACAACAGGCAGTCACAGCCTGGATTCTCTTATGCCAGCAAAGGCACACACAAACAAAATCAAGGCCAGAGCAGACAAGAAGTTGCCTATCAGAAACAGCTACTACTTAGCATCTGTTCCAGCCTCTTCAAGAAGGTTCAGTGAGGAGCATCTGCCTATGAGTGGGTCCTCAAGACACCAGGACCACTCAGCATGGTGATACTAGGTGTGAAGTCAATGATTTAATTCCCATCTTAATGATTTAGGTCAAACTCTACCCTATACCCATGGACATAAGCTAGCCCTTTAGCCCTCCTGGCCTGCTACCTGGAAAGGTACACTGGCAGGCTCATAGTGTACAAGGATCAGAGTAACAACTCACTTTTCCTTCTCTTCTCGAGAAAATCAATTCAAAGTATACTCATTAAGAAATGTATTTTTGTCTAGATAAAGACATCTGCGGAACACAAATACGCACACACACACACACACACAACCTTGTCCTATACCCCCCATCACTGCCCCCTCCTACACAGGTCTTGTTTTAACACACACACATACACACACACACGTGTCTTGTCCTGCCTTGACATGACAGCCATAGGCTGGGCTTGCTCCTGACACAGCTTCCTGTAAGCAGCAGATCATGAACACCTGATGGATGGGAAGCGGTGTGCAGCTCTGCCCATTCAGCTGGGGATAGTGGGGCTTGGCGGCTGCTGCAGGCCATGGGCATACCTTGGTGGTGAGGGATGGATAGCTCTTGTTGACCTTGCGCAGGCCATCAAGCATCTTGGGCAGCTCTGAGGGGTTGACTGGCTCCACAGCAATCTTGATAACAGATGTGGTATTGAACTTCAAGGGTCGGAAAATCTGAGCCTGAGATCCAAAGCACAAAGGACTGAGGGCAACTGGCATGAGCAGGCACAGAAAGTGCAGAGGTATGAGAAGAGAAGAGGACTTGCTTAGGATCAGACTATGTATTCCCCAACCAGGAGCCTGGTGCTGAGTGGGGGTAACCTGAAGGGCCATTTCTTCCCAGGTATTCTGGCAGAACAAAGAGAGGAGGAAAATAATAAAAGGCACCCGTCCTAATTCCTCGCATCTGAACTGAGTACAGGGAGAATCCAGCAGGGTCATATCTAGAAGGCTAAGCCTGAAACCAGGACATGGCAATGACTGTGGATTAGTCCCGTTTGTGCTCATGTGTGTCCCTGGGACCATCTAGCTTAAGCCAACCCAGTTGGTCTCTTCAGAAACTCTACCTCCTCATTGCCTCGGGGTTCGGTTATGGTTGCTGTCTTCACAATTGGTTGATCAACACCTTCAATCAGAACCCAGTTGCCAGCAGGAACACGGTTCACCTCGATGTGGTACCTGAAGCAATGTCCAATAAGCAGCAGTGAAACTTAGGCAGAGCATTCCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACAGGATCTCACTTTGTTACCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCGAACTTCCAAGGTTCCAGTGATCCTTCTGCGTCAGCCCCCCAAGTAGCTGGGACTACAGGCACACACTAACATGCCCAACTAATTTTTGTATTTTTGTAGAGACGGGGTTTTTTCATGTTGTCTAGGCTGGTCTTGAACTCCTGAGCTCAAGCAATCCTCCTGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACG
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Task1_train_24744
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A variant affecting Chromosome 17, within the gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGAGGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCTACTTACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGG
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TTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGACGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCTACTTACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGG
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Task1_train_24745
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Assess the clinical impact of this variant on gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), found on Chromosome 17. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
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TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCGGTCAATCTTGTTGATGCACACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGG
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TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCAGTCAATCTTGTTGATGCACACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGG
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Task1_train_24746
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Consider this mutation in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
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CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAACTGAGATCGCACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAACCAAAACAAAACAGAAGGAATAAGAAGAGTTAGAAGACTCACTATTTGCAACTATTGTAGGAACAAGCCAAGAATCATCAATAGATGACAAAACTAGTAGATAAAGTTTGATAAGGAGAAGAATAACCAGATTCTAATAACCAGAGCTTAATCACGAGGAAGTATTAGACAAACCCAAATTGAAAGACATTCTACAAAATAAGTGCCCTGTACTCTTCAAAAGTGTCAATGTCATAAAAGACCAAGAGAGGCTAAAGAACAGCTTCAATTCAGAGAGACTTGAAAATCATGAAAACTAAATGTTATGCATCACTCTGGATTAGGGGAAAAAATTCTATAACGGAAATTGTTGGTATGATTAATAAAACTGAATAAGGTCTGCAAAAAAAGATCTGTACAACAGGACTGTATCAATGTCAAATTTTCTGATTTTGGCAACTGTACTGTGGTTACATAGGTGAATGTCCTTATTCTTAGAAAATACATTCTGAAATATTTTACTTTCAAACAGTTCAAGGGGAAAATGTACACACCTGTCTCTCTGTGTGTGTCTGAACGTGTACAGAGAGAGAATTACGAAGTAAATGAGGGTGGGTTCTTTGAACAATTCTTGAAGCTTTTCAGTTTGCTGCTATTCCAAAATGAAAAGTCAGTTTAAAAAAAGACAATTCTGGCTCCCTCTGCTGGCTGTCTCACCAATGATAACACGAATAAGGTTAGCCAAAGTGTTCCATCTCTCAATTGAGGAATACAGAAGACACCCTGGTATTTTAACTCCAATCTCTTGGAAAAACACAACTAATATTAAAAATCCACTTACAAGAACATACACTCCTCCCTTCCTTTTATTTACATTTGTCATTTTATCTTTGTGTTTTCTGAATAGCAATGAGTCTTATCATTTTGAGCTTCACTGAGCAGGAAGCAAGGGCACCCACATTGATAATTTTTTTCTTCGTTTTTTGAGAGAATGTCTCACTCTAGCACCCAGGCTGGAGTGAAGTGGCGCAATCTCGGCTCACTGCAACCTCCAACTCCCAGGCTCAAGTGATTCTCCTGTTTCAGCCTAATGAGTAGCTGGGATTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACCACACCCGGTAAGAATTAATTTTGAAACATTTGCTGCTTTAATTTTAGAGCAAATTTGAGCCTTAATCCCAGAGAGTTTCAAGTTCTCTGGCTCCCAGCTCACTCAGTGCTCTGGGTATTGTTGCGGGGTGGGGGCAAACATAACAGGTGGATGAGATTCTGGGAGCTGAGTCTGACTCACCCCCTCAGCAGCATCAATGAAAAGGACCACTCCATCTGAGATGCGCAAGCCAGCTGTGACCTCATCAGAGAAATTCACATGTCCTGAAAAGCAAATACTAAGTAAGTCATCACTTGGTGCAGGATAAAGCACAATTAACTGGTAGGGTGAACTGAGGGGGCACTTCAAAGCCCGTGAACCTCCGAATATCCCCTTTCCTCCTCGCCATAACCCCCCACAGGGTAAAAATATCCCCCATTAGTGTCATATCCTTGCATTAAGCTTTCCTACGGGAGGCTCCCTACATAAAAAGAGGGACTCCTGGGACTCATGCCCAGGAGAGCATGAGTCCACACACACAGACCAGCTTAGCCTAATCAGCAGTAAGTAGAGTTCTGTGGGATTCAAGACAATCTGGAGGCAGGAGAAAGGGCAAAGCAGGGCCTGGAGCACAGTGTGCTGCTCGAGGAAGGCAGTTCCTGGCAAGGTGCTATGGGGGCAGGGGCTGAGAGGTATCAGGACACTGGGCATCAGATGGTGCCAAGAAAGCAAATCAGCCAAAACCTAAAACCTTCCAGTTTTTAAAAACTCTGCCCCAGTTGGTCCTTTCCATAGGAGGAAGAGTCAGCCAAGGTGCGCTGCTCCCAAGGTCATCAGGATGTTCACCAGTCTCCTTCAAAAGACTGAGAGTACTCAAGGCCAGGGACTGGCTCTGACTCACCTTTAGCTCCCCAGCAGATAGCATGGGGCCTGACAGGCTGAAATGAATAAATGAATACAATTCCCTAACATTTTTAAATATTCGAAAGAGTAAAGACATGAATAGAAGGCCTGGAGTATGATGCTTGCTAAATTAACAAGTCAGAAACAAAGGAGAGAGTCAAAATGGAAAATGGTTTCAATGAAGGTGAGGGAATGTAAAAACAAAGATGCACTGCTCCGTTCTGCTCCGAAAAGTGAGAGGACACACGCAAAACCAAGACAAGGTTCTAATAATCAAAAGCCAAAGGATGTCCTACCTGGAGTGTCCATGATATTGAAGAGATAAGATTTTCCTTTGGTGTCTGGCAAGACCACTGTCACAGGAGTGCTTTTGATGCCTACACCTCTCTGAAAGGAACAAAGAGTGGTCAAGACCTCTTCCTATGCAAGAGGGGTTCATTTTGTTTTTGGGGCTCCCCAGTTGCTAGTAAATTACACTGATGCCTCTCCTTATAGTGGGTGATTTTTATCTAGGCCTCTAGCCAGCATGACCTTGAAGATAAAATATCTTGGTGTTAGACACCATTTTTGGGGGACTTGTTTCAAATGTGAAAAGATGAAAATGAATTACTGCAAACAAAACAGTATTAAGCCTTATCAGAGAATCCAGGGTCCTAGAATCTCATCCTCTTTATACATTAGAAACAAAAACAATAGCTGAGCACCTTGAAAGTAAAAAGAAACAATCTGGGGTATTTTAGTTTTTTTTTAAAAAAGAAATATAAAAGCTATGACAGAAATAAACATTTTTTTTAAAACTCCAAACAAATACATAAATACATTATAAAATAATAACAGCTAACATTGATTGCCTATCTATCTTTACTAATTCCAAGTGCCTTTAGTTAACCATACTTATTATACTTAAAACTTCCATTAGGAAAAAGAGACAGAAATAAGAGGAGGGAAACAGAAGGGGTCAGAGATTAGAGAGAAAGATCCGGAAGGAAAGACAAAAAGAGAAACACAAAGATATAGGAACCCATTTTCAAAGAGAAGCTACTCCTAGAAAGAGGTCATCATATGGATGGACTCATCCTGCGGATTTTTAAAGGATGATGTCATTTTAAAAAAATCATGTTGAGCTTCTGCGTAACTTATAGCACAAATGCAGACATCGCCTCTTAGTACTTCTCCTATATTAGGCCAAATTTAATCTAGTCAAGAACAGGAGGGTTCCCCTCCTAACCTACAGCTTGCCTACCCAGTTCTTTTTCAAGTTATAACCCTGGAGTAACTGGGGGAAGAAGGAGATGGGATGTGAGAAGTGGAGAGAGAGGAGTAGGATATGAACTAAAATGCTATCATAAAGGCTCCTCTACATTCCCTACAAAACTATTACTGGTGGGTCTGGTGTAGGTGACAATCAGATTCCCCAAGGCATGC
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CTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAACTGAGATCGCACCACTTCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAACCAAAACAAAACAGAAGGAATAAGAAGAGTTAGAAGACTCACTATTTGCAACTATTGTAGGAACAAGCCAAGAATCATCAATAGATGACAAAACTAGTAGATAAAGTTTGATAAGGAGAAGAATAACCAGATTCTAATAACCAGAGCTTAATCACGAGGAAGTATTAGACAAACCCAAATTGAAAGACATTCTACAAAATAAGTGCCCTGTACTCTTCAAAAGTGTCAATGTCATAAAAGACCAAGAGAGGCTAAAGAACAGCTTCAATTCAGAGAGACTTGAAAATCATGAAAACTAAATGTTATGCATCACTCTGGATTAGGGGAAAAAATTCTATAACGGAAATTGTTGGTATGATTAATAAAACTGAATAAGGTCTGCAAAAAAAGATCTGTACAACAGGACTGTATCAATGTCAAATTTTCTGATTTTGGCAACTGTACTGTGGTTACATAGGTGAATGTCCTTATTCTTAGAAAATACATTCTGAAATATTTTACTTTCAAACAGTTCAAGGGGAAAATGTACACACCTGTCTCTCTGTGTGTGTCTGAACGTGTACAGAGAGAGAATTACGAAGTAAATGAGGGTGGGTTCTTTGAACAATTCTTGAAGCTTTTCAGTTTGCTGCTATTCCAAAATGAAAAGTCAGTTTAAAAAAAGACAATTCTGGCTCCCTCTGCTGGCTGTCTCACCAATGATAACACGAATAAGGTTAGCCAAAGTGTTCCATCTCTCAATTGAGGAATACAGAAGACACCCTGGTATTTTAACTCCAATCTCTTGGAAAAACACAACTAATATTAAAAATCCACTTACAAGAACATACACTCCTCCCTTCCTTTTATTTACATTTGTCATTTTATCTTTGTGTTTTCTGAATAGCAATGAGTCTTATCATTTTGAGCTTCACTGAGCAGGAAGCAAGGGCACCCACATTGATAATTTTTTTCTTCGTTTTTTGAGAGAATGTCTCACTCTAGCACCCAGGCTGGAGTGAAGTGGCGCAATCTCGGCTCACTGCAACCTCCAACTCCCAGGCTCAAGTGATTCTCCTGTTTCAGCCTAATGAGTAGCTGGGATTACAGGCATGGGTCACCACACCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCGCCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCAACCACACCCGGTAAGAATTAATTTTGAAACATTTGCTGCTTTAATTTTAGAGCAAATTTGAGCCTTAATCCCAGAGAGTTTCAAGTTCTCTGGCTCCCAGCTCACTCAGTGCTCTGGGTATTGTTGCGGGGTGGGGGCAAACATAACAGGTGGATGAGATTCTGGGAGCTGAGTCTGACTCACCCCCTCAGCAGCATCAATGAAAAGGACCACTCCATCTGAGATGCGCAAGCCAGCTGTGACCTCATCAGAGAAATTCACACGTCCTGAAAAGCAAATACTAAGTAAGTCATCACTTGGTGCAGGATAAAGCACAATTAACTGGTAGGGTGAACTGAGGGGGCACTTCAAAGCCCGTGAACCTCCGAATATCCCCTTTCCTCCTCGCCATAACCCCCCACAGGGTAAAAATATCCCCCATTAGTGTCATATCCTTGCATTAAGCTTTCCTACGGGAGGCTCCCTACATAAAAAGAGGGACTCCTGGGACTCATGCCCAGGAGAGCATGAGTCCACACACACAGACCAGCTTAGCCTAATCAGCAGTAAGTAGAGTTCTGTGGGATTCAAGACAATCTGGAGGCAGGAGAAAGGGCAAAGCAGGGCCTGGAGCACAGTGTGCTGCTCGAGGAAGGCAGTTCCTGGCAAGGTGCTATGGGGGCAGGGGCTGAGAGGTATCAGGACACTGGGCATCAGATGGTGCCAAGAAAGCAAATCAGCCAAAACCTAAAACCTTCCAGTTTTTAAAAACTCTGCCCCAGTTGGTCCTTTCCATAGGAGGAAGAGTCAGCCAAGGTGCGCTGCTCCCAAGGTCATCAGGATGTTCACCAGTCTCCTTCAAAAGACTGAGAGTACTCAAGGCCAGGGACTGGCTCTGACTCACCTTTAGCTCCCCAGCAGATAGCATGGGGCCTGACAGGCTGAAATGAATAAATGAATACAATTCCCTAACATTTTTAAATATTCGAAAGAGTAAAGACATGAATAGAAGGCCTGGAGTATGATGCTTGCTAAATTAACAAGTCAGAAACAAAGGAGAGAGTCAAAATGGAAAATGGTTTCAATGAAGGTGAGGGAATGTAAAAACAAAGATGCACTGCTCCGTTCTGCTCCGAAAAGTGAGAGGACACACGCAAAACCAAGACAAGGTTCTAATAATCAAAAGCCAAAGGATGTCCTACCTGGAGTGTCCATGATATTGAAGAGATAAGATTTTCCTTTGGTGTCTGGCAAGACCACTGTCACAGGAGTGCTTTTGATGCCTACACCTCTCTGAAAGGAACAAAGAGTGGTCAAGACCTCTTCCTATGCAAGAGGGGTTCATTTTGTTTTTGGGGCTCCCCAGTTGCTAGTAAATTACACTGATGCCTCTCCTTATAGTGGGTGATTTTTATCTAGGCCTCTAGCCAGCATGACCTTGAAGATAAAATATCTTGGTGTTAGACACCATTTTTGGGGGACTTGTTTCAAATGTGAAAAGATGAAAATGAATTACTGCAAACAAAACAGTATTAAGCCTTATCAGAGAATCCAGGGTCCTAGAATCTCATCCTCTTTATACATTAGAAACAAAAACAATAGCTGAGCACCTTGAAAGTAAAAAGAAACAATCTGGGGTATTTTAGTTTTTTTTTAAAAAAGAAATATAAAAGCTATGACAGAAATAAACATTTTTTTTAAAACTCCAAACAAATACATAAATACATTATAAAATAATAACAGCTAACATTGATTGCCTATCTATCTTTACTAATTCCAAGTGCCTTTAGTTAACCATACTTATTATACTTAAAACTTCCATTAGGAAAAAGAGACAGAAATAAGAGGAGGGAAACAGAAGGGGTCAGAGATTAGAGAGAAAGATCCGGAAGGAAAGACAAAAAGAGAAACACAAAGATATAGGAACCCATTTTCAAAGAGAAGCTACTCCTAGAAAGAGGTCATCATATGGATGGACTCATCCTGCGGATTTTTAAAGGATGATGTCATTTTAAAAAAATCATGTTGAGCTTCTGCGTAACTTATAGCACAAATGCAGACATCGCCTCTTAGTACTTCTCCTATATTAGGCCAAATTTAATCTAGTCAAGAACAGGAGGGTTCCCCTCCTAACCTACAGCTTGCCTACCCAGTTCTTTTTCAAGTTATAACCCTGGAGTAACTGGGGGAAGAAGGAGATGGGATGTGAGAAGTGGAGAGAGAGGAGTAGGATATGAACTAAAATGCTATCATAAAGGCTCCTCTACATTCCCTACAAAACTATTACTGGTGGGTCTGGTGTAGGTGACAATCAGATTCCCCAAGGCATGC
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Task1_train_24747
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This mutation occurs in EFTUD2 (elongation factor Tu GTP binding domain containing 2) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Mandibulofacial dysostosis-microcephaly syndrome
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AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGCCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTAAGCCACCACACCTGACTGTAAACCTTATTTTCAAAAAGAAAAAAAAATGCTGGTTTATAAGACATCAATAAAAAACTTCAAATGTCTTGCCCAAATCAAGATACATCATGTCCACAGCATGCCCCTGACCTGTGGCTCAACCTAGTAATCCTATCAAGAGAAAATTATTTTTATAAAACTCATGCTAGCTTCCTAAGTACTCAACAGTCATTTTTTTTTTTTTTTGTTTGAGACCGAGTCTCACTCTTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGTGATTTTCCTGCCTCGGCCTTCCAAGCAGCTGGGACTACAGGCACGCGCCAACAAGCCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGTCAGGTTAGTCTTGAACTCCTGACCGTGTGATCTGACCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGGCCCTTTCTATTGCTTTTATGCATCTCTGAAAATCTGAGCTTGTGAGGGAGCTCCCAGTGCAGCTGTAGCTGGAAGAGTTGAGTATCTTTTCCAAGTGGGAATTATTCATGACTGTTAAAAGACACTTCAGGGAAATGGAAGAACTAATGATCAACTAGAGCTCAGATTACAAAACCATCTCATCAATGAAACTACATATTCCCTTTTGGAACCTTAGTAGCGAAGCTTTGCTGGAGCAGTATGAGATCCCACTAAGTCATGTTATAAAAAGGACAATCTCAAGAGACGTACCCAGGGTATCACTGGAACACAGAGGATTCAAAATTTCATTGTTTTTTAAAAAAAGGTGGGGGGGGGGGTGGGGGGGCAGGCATGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAAGTCAGGACTTCAAGACCAGCCTGGACAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATTGAGAATTGCTTGGACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATGGTGCCACTGCGCTCCTGCCTGGGCAACAGGGTGAGACTGTCTCAAAAAAAAAAAAAAGAAAAAAGAGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCAGTTTGGGAGGCCAAGGCAGGTGGACTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATGTTTCATCTCCACGAAAAATAAAAAAAAATTAGCTGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCACTTAAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAACCTGGCAAGAGAGTGAGATCTTGTCTTAAATAAAATAAATAAGAGTGAGATAAAAGAGCAATATATTTGTTTTACCTCATCAAGATCTTTGGTCTCTCTACCCAATTCATCATCATCTTCATCAGAATCAAGCTCTGGTCCAATATAATTCCCAAACTCATCATATAAGTCGGTATCCATGATGCTAAAATTCAAGGAGAGAAGAGTTAGATTCTGACAAGGTAATCAAGGCCTTCATGTGGTGGCTCCACCTGTCTAGTCTTAGTCTTATGGTTGGCCATACCCCTTTCACATGCCTCCTCTCCAGTGACATCAACCTACTGAATGCTCCTCCCAAAGCCCAGTACTTTCCCCAAGTCTCTGCCTTACTTGTCTCTATTTATGTAGTCTTCCCTCCACTTTTCTTGTTTTGGGTTTTAAGGAGCAGAGAGTTGAATAGGCAAGAAGGAAGAAAGAAGACAGAAGGAAGAAGCTCCGCCGTACAGAGATGGGGCGTGGGGGGCGCTCCAAAGCCAAAAGAGGAGGTCCCCCTCCCTCCACTTTTTTAATACTAAATTTAATTTTAAAACAACTCAGTATCAAAAAATGGCAAGAACAGTACAAATAACTTACTTTTTCCTAAATTATTTGAAAGTGAGCTGTTGACACAATGGCTCATCACCTCCTAATACTTTAGTGTAAGGGTGGGCAAACTCTGGCCTGTGGCCAAATCTGGCCCCTCCAGCTGTTTTTACATGGCCCTCAAGCTAAGAATGCTTTTTCACATTTGTAAATTGCCAGGGAAAAAGTCAAAAGAAAAATATTTCATGATACATGAAAATTAATTATAAGGAATTCAAATGTCAGTGTCTATTAAAAAAGTTTCATTGGGAGGCCGGGCGCGGTGGCGCATGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCAGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGATATAGGAGAATCCCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGGCGAGATGGCACCACTGCACTCCAGCCTGGGAGACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTTTCACTGGAAAACAGCCATGCATATTCATTTGCATCATTTACAGTTGCCTTCACACTGTAATAGCAGAGTTGAATAGTTGAGACTGAAACCATATGGCTCACAAAGCCTAAAATATTATCCAGTCCTTAATAGAAAAAGTTTGCCAACCTCTCCCTCACCATGTGTAATTCCTACAAACAAGAACATTCTCCTACATAACCACAATACAACCATCAAAATCAGAAAATTGATATTCACACATTACTACCACCTTCTTTACAGATCCCATTCAAGTTTCACAGATTGTTCCAATAATACCTTACACACCTAAGGATCCAATCCAGGATCATGTTTGCATTTGGTTGTCATGTCTCTAGTCTCTTTGGATCTACAATCTTCAGTCTTTGGATCTACAATCTTCAGTCTTTCCTTCCAAGGACTGTCATGAAATCCTTAAGGATGTCCCTTGATTTGAGGTTGTCTGATGTTACCTTATGATAATATTCAGGTTATGCGTTTTGGGCAGGAATATCATAGAAGTGATGCTGTGTTCTTCTCAATGCATTTCGTATCAGGTGATACATGATTTCAATTTGCCCCATTAGTGGTAACGTTAACTTTGATCACTTCATTAAGGTGATGTTTGCCAGGCCTCTCCATTGTAAAGTTACTCATTTTCCCTTTGTAATTAAGTAGTGTTTTGTGGGTTTTCTCCACTTCAATTACTGAAATTCTATTCAAAGAAACAGTTCAAATGCCACCACCTCCTTCAAGCTTTCCTAGCTCCTCAATTTCTCATTCCTCTATCCTACTAGAGCTTTTTGCACCTTTATCAGTATTTAATTTTGTCTTAAATAGTAGTTAACTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGCAGGCCAAGATGGGCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCACTTG
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AGCCCATGTTCTTTTCACTAGGACATCATGAGTTACAGAGGTTAACTGGGGAAGAAGAGTGAATGGAATGAGAACAAAGGAAACCTTTCTATCAACATGGTTTGAATGAGAATGTATTCATGAATTACCTATATAATTAAAGAAAAACACACTGTAAAACCTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCACCCAGGCTGGAGAGCAGTGGCTCGATCTCAGCTCACTGCAACGTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGCCTCAGCCTCCCAAAATGCTGGAATTACAGGCGTAAGCCACCACACCTGACTGTAAACCTTATTTTCAAAAAGAAAAAAAAATGCTGGTTTATAAGACATCAATAAAAAACTTCAAATGTCTTGCCCAAATCAAGATACATCATGTCCACAGCATGCCCCTGACCTGTGGCTCAACCTAGTAATCCTATCAAGAGAAAATTATTTTTATAAAACTCATGCTAGCTTCCTAAGTACTCAACAGTCATTTTTTTTTTTTTTTGTTTGAGACCGAGTCTCACTCTTGTTGCCCAGGCTGGAGTACAGTGGCACAATCTTGGCTCACTGCAACCTCCGCCTCCCGTGTTCAAGTGATTTTCCTGCCTCGGCCTTCCAAGCAGCTGGGACTACAGGCACGCGCCAACAAGCCTGGCTAATATTTGTATTTTTAGTAGAGACGGGGTTTCACCGTATTGGTCAGGTTAGTCTTGAACTCCTGACCGTGTGATCTGACCACCTTGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGGCCCTTTCTATTGCTTTTATGCATCTCTGAAAATCTGAGCTTGTGAGGGAGCTCCCAGTGCAGCTGTAGCTGGAAGAGTTGAGTATCTTTTCCAAGTGGGAATTATTCATGACTGTTAAAAGACACTTCAGGGAAATGGAAGAACTAATGATCAACTAGAGCTCAGATTACAAAACCATCTCATCAATGAAACTACATATTCCCTTTTGGAACCTTAGTAGCGAAGCTTTGCTGGAGCAGTATGAGATCCCACTAAGTCATGTTATAAAAAGGACAATCTCAAGAGACGTACCCAGGGTATCACTGGAACACAGAGGATTCAAAATTTCATTGTTTTTTAAAAAAAGGTGGGGGGGGGGGTGGGGGGGCAGGCATGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCAAGGCAGGTGGATTGCTTGAAGTCAGGACTTCAAGACCAGCCTGGACAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACATTAGCCGGGCATGGTGGCACACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCATTGAGAATTGCTTGGACCTGGGAGGCAGAGGCTGCAGTGAGCCAAGATGGTGCCACTGCGCTCCTGCCTGGGCAACAGGGTGAGACTGTCTCAAAAAAAAAAAAAAGAAAAAAGAGGGGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCAGTTTGGGAGGCCAAGGCAGGTGGACTGCTCGAGCTCAGGAGTTCAAGACCAGCCTGGGCAATGTTTCATCTCCACGAAAAATAAAAAAAAATTAGCTGGGCATGGTGGTGCATACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGTGGGAGGATCACTTAAGCCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAACCTGGCAAGAGAGTGAGATCTTGTCTTAAATAAAATAAATAAGAGTGAGATAAAAGAGCAATATATTTGTTTTACCTCATCAAGATCTTTGGTCTCTCTACCCAATTCATCATCATCTTCATCAGAATCAAGCTCTGGTCCAATATAATTCCCAAACTCATCATATAAGTCGGTATCAATGATGCTAAAATTCAAGGAGAGAAGAGTTAGATTCTGACAAGGTAATCAAGGCCTTCATGTGGTGGCTCCACCTGTCTAGTCTTAGTCTTATGGTTGGCCATACCCCTTTCACATGCCTCCTCTCCAGTGACATCAACCTACTGAATGCTCCTCCCAAAGCCCAGTACTTTCCCCAAGTCTCTGCCTTACTTGTCTCTATTTATGTAGTCTTCCCTCCACTTTTCTTGTTTTGGGTTTTAAGGAGCAGAGAGTTGAATAGGCAAGAAGGAAGAAAGAAGACAGAAGGAAGAAGCTCCGCCGTACAGAGATGGGGCGTGGGGGGCGCTCCAAAGCCAAAAGAGGAGGTCCCCCTCCCTCCACTTTTTTAATACTAAATTTAATTTTAAAACAACTCAGTATCAAAAAATGGCAAGAACAGTACAAATAACTTACTTTTTCCTAAATTATTTGAAAGTGAGCTGTTGACACAATGGCTCATCACCTCCTAATACTTTAGTGTAAGGGTGGGCAAACTCTGGCCTGTGGCCAAATCTGGCCCCTCCAGCTGTTTTTACATGGCCCTCAAGCTAAGAATGCTTTTTCACATTTGTAAATTGCCAGGGAAAAAGTCAAAAGAAAAATATTTCATGATACATGAAAATTAATTATAAGGAATTCAAATGTCAGTGTCTATTAAAAAAGTTTCATTGGGAGGCCGGGCGCGGTGGCGCATGCCTGTAATACCAGCACTTTGGGAGGCCAAGGCAGGCAGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACGCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTACGGTGGCTCACACCTGTAATCCCAGCTACTCAGGAGGCTGATATAGGAGAATCCCTTGAACCCAGGGGGTGGAGGTTGCAGTGAGGCGAGATGGCACCACTGCACTCCAGCCTGGGAGACAGAACAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGTTTCACTGGAAAACAGCCATGCATATTCATTTGCATCATTTACAGTTGCCTTCACACTGTAATAGCAGAGTTGAATAGTTGAGACTGAAACCATATGGCTCACAAAGCCTAAAATATTATCCAGTCCTTAATAGAAAAAGTTTGCCAACCTCTCCCTCACCATGTGTAATTCCTACAAACAAGAACATTCTCCTACATAACCACAATACAACCATCAAAATCAGAAAATTGATATTCACACATTACTACCACCTTCTTTACAGATCCCATTCAAGTTTCACAGATTGTTCCAATAATACCTTACACACCTAAGGATCCAATCCAGGATCATGTTTGCATTTGGTTGTCATGTCTCTAGTCTCTTTGGATCTACAATCTTCAGTCTTTGGATCTACAATCTTCAGTCTTTCCTTCCAAGGACTGTCATGAAATCCTTAAGGATGTCCCTTGATTTGAGGTTGTCTGATGTTACCTTATGATAATATTCAGGTTATGCGTTTTGGGCAGGAATATCATAGAAGTGATGCTGTGTTCTTCTCAATGCATTTCGTATCAGGTGATACATGATTTCAATTTGCCCCATTAGTGGTAACGTTAACTTTGATCACTTCATTAAGGTGATGTTTGCCAGGCCTCTCCATTGTAAAGTTACTCATTTTCCCTTTGTAATTAAGTAGTGTTTTGTGGGTTTTCTCCACTTCAATTACTGAAATTCTATTCAAAGAAACAGTTCAAATGCCACCACCTCCTTCAAGCTTTCCTAGCTCCTCAATTTCTCATTCCTCTATCCTACTAGAGCTTTTTGCACCTTTATCAGTATTTAATTTTGTCTTAAATAGTAGTTAACTGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGCAGGCCAAGATGGGCGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCACTTG
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Task1_train_24748
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Gene DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Primary ciliary dyskinesia 17
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ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
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ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCTAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
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Task1_train_24749
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This gene mutation involves DNAAF19 (dynein axonemal assembly factor 19) on Chromosome 17. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Primary ciliary dyskinesia
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ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
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ATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCTAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCC
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Task1_train_24750
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The gene GFAP (glial fibrillary acidic protein) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Alexander disease
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GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
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GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCACATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
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Task1_train_24751
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This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Inborn genetic diseases
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GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
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GAGTAAGAAGGGACCGCAAGAGGCCCTTGGCTTAGGGAAAAGCAGCCGGTCACTATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCACATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCT
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Task1_train_24752
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A variant found in Chromosome 17 affects GFAP (glial fibrillary acidic protein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Alexander disease
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TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGA
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TATGGGGTGGAGAGGGTCAGACGTGTGGCAGTGGCTTACTGGGGTTAAGAAGCAGCAGTCCCAGGGGCTCAGAGGCTGGGGCGGCCTGGTATGACACAGCAAGGAAGAGGCCTTTAGAAATGGGACAAAGTCATGCCCTGCCCCCATGGATACATCCCCTTTCTCTCCTGTTTCAGCATCTTCAAGAGGATGAGTCACTTCCTTAATTCCCACAATCCAGAGGCCAAGTGCAACTGGTCACCCACAACCCCTACTTGTATGCCTAGCGCCATCCCAATTGCCTCCTCCTCCATCTCTACCAGCGTCCCCTCCAGTCTGCACGGGGCAGTCCTCCTGGGCTTGACCTCTCTGTACCCACAGCTGGGGGCCAGGCAGCCCCCCTCTATCCCTCCCAGCACCTCATCCCTCTCCACGTACACAACAGATCCCCCAAGTGCTGAGAATCAAGCTCCCACCTGCCCACAGCGTGCCCACAGATGGCATCCCTGGATGGCAGCTCAGGTGGACTGAGACACTTGAGTCATCGCTCAGGAGGTCCTTCTGGGATCTGGGCAGGTGACTGCCCCAGGTGGCAGGACGTCCCCACCCATCTTAGACTGATCAGGGTCAGTCTAGGAGAACAACCCTCTGAGCTGGGCATGGTGGCTCCAATCTATAATCCCAGCTACACAGGAGGCTGAGGTGGGTAGACTGCTTGAGCCCAGGAGTTCAAGGTCAGCCTAGGCAGCATAGGGATATCCCACCTCATAAAAACCAAAAGACAAAACAAGCCTCTGGCCAGGGCTACCTTGTCTGTGGGGCCTTCCCTTTCCTGTCTGAGTCTCAGTTTTCCTCCAGCAGCCTGAGGAAACTCAAAGGCACAGTTCCCAGATACTCCGAGAGAACCTCCATCTCTGGCAACAGTTTCCATAACAACAGGAATCAGGGATGTGGAGGGCGATGTAGTAGGTGCCCCCCGCCCTCCTCCCCTTCTCTCCTTCCTCCTCATTCTAACGCAAGCTGCTGGCCATGCCCCTCCAGACTGCCCCTTGGGGGTGAGTTTCTTGTTAGTTGGAGTTGCTGGGTGCTGGGTGGGTGCCGTCTGGCAGGCCTGATACTGACGGAGCCTAGGGCAGCAAGCTGACCTAGGGACAGAGGAGGGAGGGGAGCAGCTGGGGTGGTGGGGAGCTCAGGTCTGGGGAAATGTGCCAGCAGAGGCGGAGCAACTATCCTGCTTCTGCTCGGGCCCCTCATGAGACGGGGCAGAGGCCACCAGGTGGGTCCTGCCTCACATCACATCCTTGTGCTCCTGCTTGGACTCCTTAATGACCTGCAGGGGACAGGGAACGTGCACAGTGCAACAGTTAGGAGTTCACACAGACCCCAGGTCCACCACCACGAGGCTGTGTAACCTTGGGAAGTCCCCGACTTCCCAGGTCTTACTTTTCTTGATAGTAACCACAGCTGCCTTGCGTGGTGGACAGAGGGGGTGGTGAGATAACACTGGGAAAGCATTTAGCGTCATGCCTGGCGAGTGGTAAGCTGCTGGAGTAAGATGAGCTCCCACTGTGGTTGGAGTGGCGTGGCGGATACGCCAAATCCCCTCTTCCCATTCCCCTGGTAGTTTCCTTTTACCAAGCTGGAAATGGAAAGCCCTCCCCATCCCCAACTGTGTCTGCTAGAGTTGGAAGTGAAAGCTACTAACTTTAATTCTCTTTCTCTCCCTGGCAAGCAAGGCCCCCGAGTTTGAGGGTGAGAAAGAGAGAGTGTGTATTAGGATCCCATCTAGTGGCTTTGGTACCAAGGCTCCCCTTAGAACAGCCTATGGAGGGACTGAGGAAACGGAATTACATTCAGTTTCCTTGCTCTCCTCCAGAATTCCCTGGGGAGCTACTGGGAGTTGCTGGGAACCTTCTATGTGCCAGCCCCAGGCTTTCCTCCATGGCCTGGCCTTGAGAATCCCTGGGGCCAGCCAGAGCCTGACTGGGCCCAAATCCCTCCTTACCTCTCCATCCCGCATCTCCACGGTCTTCACCACGATGTTCCTCTTGAGGTGGCCTTCTGACACAAACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGA
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Task1_train_24753
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A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) 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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CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
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CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGATGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
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Task1_train_24754
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This variant lies on Chromosome 17 and affects the gene GFAP (glial fibrillary acidic protein). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; not provided
|
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
|
CCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGCTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCC
|
Task1_train_24755
|
This alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; not provided
|
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
|
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCAGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
|
Task1_train_24756
|
This sequence variant lies in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; not provided
|
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
|
AGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCCGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCAC
|
Task1_train_24757
|
A genetic alteration is present in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; not provided
|
CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCT
|
CCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTTGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCT
|
Task1_train_24758
|
Here is a mutation in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; not provided
|
AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCC
|
AGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTGGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCC
|
Task1_train_24759
|
Chromosome 17 houses a mutation in gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Alexander disease
|
ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCA
|
ACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGACCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCA
|
Task1_train_24760
|
Here is a genetic alteration in GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Alexander disease
|
CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCAT
|
CCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATGTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCAT
|
Task1_train_24761
|
An alteration has been detected in LOC130060994, GFAP (ATAC-STARR-seq lymphoblastoid active region 12266| glial fibrillary acidic protein) on Chromosome 17. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Alexander disease
|
CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATA
|
CTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCCCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATA
|
Task1_train_24762
|
This alteration occurs within gene GFAP, LOC130060994 (glial fibrillary acidic protein| ATAC-STARR-seq lymphoblastoid active region 12266) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Alexander disease
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CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGT
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CAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGACCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGT
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Task1_train_24763
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A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Alexander disease
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AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGT
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AATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCGGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGT
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Task1_train_24764
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Here is a variant affecting GFAP (glial fibrillary acidic protein) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Alexander disease
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GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGG
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GGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTTCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGG
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Task1_train_24765
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The variant affects gene GFAP (glial fibrillary acidic protein), 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; Alexander disease
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TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGAC
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TATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGAGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGAC
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Task1_train_24766
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A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Alexander disease
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TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTT
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TGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCATCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTT
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Task1_train_24767
|
A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Alexander disease
|
CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCA
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CCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCGGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCA
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Task1_train_24768
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This mutation occurs in GFAP (glial fibrillary acidic protein) on Chromosome 17. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Alexander disease
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GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGC
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GGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCAGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGC
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Task1_train_24769
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This mutation is located in gene GFAP (glial fibrillary acidic protein) 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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CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCA
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CCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGCCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCA
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Task1_train_24770
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This variant affects gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Alexander disease
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CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
|
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGAGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
|
Task1_train_24771
|
A genetic alteration is present in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Alexander disease
|
CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
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CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGTGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
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Task1_train_24772
|
Chromosome 17 houses a mutation in gene GFAP (glial fibrillary acidic protein). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Spastic paraplegia, intellectual disability, nystagmus, and obesity
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CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
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CCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGTGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGC
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Task1_train_24773
|
This variant impacts the gene GFAP (glial fibrillary acidic protein) on Chromosome 17. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Alexander disease
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CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCG
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CAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCAGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCG
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Task1_train_24774
|
This sequence variant lies in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Alexander disease
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TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
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TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCAAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
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Task1_train_24775
|
With a mutation on Chromosome 17 in gene GFAP (glial fibrillary acidic protein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Alexander disease
|
TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
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TCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCTAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTT
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Task1_train_24776
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The gene GFAP (glial fibrillary acidic protein) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Alexander disease
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CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
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CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAAGCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
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Task1_train_24777
|
Gene GFAP (glial fibrillary acidic protein) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Alexander disease
|
CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
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CAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAATCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTT
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Task1_train_24778
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This is a variant in GFAP (glial fibrillary acidic protein), located on Chromosome 17. Is this mutation a likely cause of disease or not?
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Pathogenic; Alexander disease
|
CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGAC
|
CTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGTCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGAC
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Task1_train_24779
|
Located on Chromosome 17, this mutation impacts GFAP (glial fibrillary acidic protein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Alexander disease
|
CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTC
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CCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGTGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTC
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Task1_train_24780
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This sequence change occurs on Chromosome 17, altering GFAP (glial fibrillary acidic protein). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Alexander disease
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CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
|
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCAGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
|
Task1_train_24781
|
A genomic change on Chromosome 17 affects GFAP (glial fibrillary acidic protein). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; not provided
|
CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
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CATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCCGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCT
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Task1_train_24782
|
This alteration occurs within gene GFAP (glial fibrillary acidic protein) located on Chromosome 17. Is it associated with a disease or is it a benign variant?
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Pathogenic; not provided
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ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTC
|
ATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGTTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTC
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Task1_train_24783
|
This genomic variant is located on Chromosome 17, within the GFAP (glial fibrillary acidic protein) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; not provided
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TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCAC
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TCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTAATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCAC
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Task1_train_24784
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A variant has been detected on Chromosome 17 in GFAP (glial fibrillary acidic protein). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTG
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TCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCACTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTG
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Task1_train_24785
|
A mutation in GFAP (glial fibrillary acidic protein), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Alexander disease
|
CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGT
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CTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATAGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGT
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Task1_train_24786
|
A mutation on Chromosome 17 affecting GFAP (glial fibrillary acidic protein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
|
GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGC
|
GTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAACTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGC
|
Task1_train_24787
|
A variant on Chromosome 17 in gene GFAP (glial fibrillary acidic protein) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Alexander disease
|
CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTG
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CAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCGTCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTG
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Task1_train_24788
|
A change on Chromosome 17 affects gene GFAP (glial fibrillary acidic protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Alexander disease
|
AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGG
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AAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCACCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGG
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Task1_train_24789
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A sequence alteration has been identified in GFAP (glial fibrillary acidic protein) on Chromosome 17. Is it disease-inducing or harmless?
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Pathogenic; Alexander disease
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TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGGAGTGCAGTG
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TGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCACTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTCTGTACCCTCAAGGGCCACCTCATTTCCTACTAGGCCTCATTCCCAGCAGACTCCTGGAGTCCTTCCCTTGAACACAGATGTCCCACATTCCTGCTCTCTGCCCATTCATTCCCTGGAGTTCTGGGGCTGGGGGCTGGGATTGGACACCAGCCCTTTGTCTAAGGGTCAATCATGGCCTCTATGTGGCAGTGGAGGTCCTGATAGGGCAAGAGGGGGCCGGCACTCTCTTGCCTTATCAGGACTTTAGCCCCTGGATCTGTCCCTCCAGGTCACCCCTTCCTTGTCTGGCCTCCCTGTGCCTCTCTCCCAGAGACCAGGCCTTGACAGCTCCACAAAGCCGTTACACATGAGCTGGCTGTGCTGGCTCGTCTTTATTCCTGCAGCGCCCCGTTTCCCTGGCCACCCCTCCGTCTCCCACTGGAGATTTATTTCCTCGAGTTCCCACACATCAGCCTGGAGAGATGGGAAGAACCTCTGGGGATGGATGGGTTTGGAAACGCTGGAGCCACTGGGCCCAACTAGGAGCCTGAGACCTGGGCCCTGTTGTCCCTGGAGACTTCAGGTCCATCTACGCCCTCCACTCTGGTCCCACAGGGTCAGAACCCTGCCCAGTCCCCTCACCCATTTGTGTCCTTGGACTTCTGGGAAGCAGACAGCCCTCCTCTCCCCCCCTGCCACCCACTGTCCATGCCTGGGCATCCCCTGATCCCCTTTCCTGGGCACAGGCTGAATAGAGCCTTGTTCTCCACCGCCGGTGGCGCCACACAGCAAGGGCAGCCCCTAGGGGGCTGTGCTGCTTTTATCCCAAGATGCCAGGCTGTCAGGCTGGGGTGCAATGCAAGCCCCCTGCTCAATGGGCTTCTCGGAAGGCATTTGAGGGGGGCTGGGGTGCGGCGGGAAGCAGGCACTGTGCCCACCCCGAACATTGTGTCTGTGCCAAGGTGAGTCATTCACTGGGCATGAAGAGGAGGCCCTGGGGGGCGGCCAGCCCAATGCTGCCAGGTCTGCTTGCAGACAAGGCCTGGCTGTCTGCCTCCTCCCCAGCTCACAGAGCCAGCTCAGGCCCCCGAGCCTCTGTCAGAGCAGCGTCCCCTACTCCACACCAGGATATGTTCTTTTTTTTTTTTTTTTTTTTTTTGTCTTTTGAGACAGGGTCTCACTGTTGCCCAGGCTGGAGTGCAGTG
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Task1_train_24790
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The gene PLEKHM1 (pleckstrin homology and RUN domain containing M1) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Osteopetrosis, autosomal dominant 3
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CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAACCGCAGACCAATTCCTTTCAGATGCTTGAAACAGGCTTCCCTCCAGTCTGTGCCAACAGGACAGCTCCCAAACCAAGGCTCAGCTTCTTGCTCTGGCCTTCTGCAGCAGGACAACCCCCTCACAGGTCACCTAAGGGTCCCATGGTGATGGGATGCCATCTGCCCCTGGATGGTGGGGGGAGTGGGAGGGGCTAACAATGGAACATGGGCAGGGGGATGTCACTCAACCTTGAATAAGACCCTAGAGGGATGCCCTCTAGGGTCCTGCCTATGAGCAAAGGCTCTGGGGCCTGACTGTCAGGGTCCCATTTCTGCCTCTGGCCAGGCATGGTTGCTGATATCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGAACACTTGAGCCTAGGAGTTCAAGACTAGCTTGAGCAACAGGGGGAGACCCCATCTCTACTAAAACAAACAAACAAACAAACAAAAAAGGAAAATTCTGCCTCTGCCACTTACTAGCTGTGTGAGCTCAGTAGCAGACACCAACCAGGTACTTACCAGCTCTGTGCTTCAGTTTCCTCCCCTATCAACAGAGATGATAATAGTAGCGCCTATCTCTACAGGGTTGTTATGAGACTTAAATGAGATAATCCAAATAAAGCAGCTGGCCCAGTGCCCAGCACAGAAGTATTAGATTTGATGATGAGGAAGACATAGCAGATGTACTGACTTGGAATAACATCCACAGTGTAGGAAAAAACCAAGTTGTGGAACAATATATCCAGCATTCAACACAGCAGCCAAGAGCCCCGTGTGTCCCCTTTAAATGCAAATGAATTTAAATAGAAAATTCAGTTGCTTAACCACACTAGCCACACTTTAAGCACCTGGTAGCACTACATGGCTCGCAGCTATGGCACTGGACACACAGATCTAGGACATTTTCATCATCACAGAAAGTTCTATTGGACAGCACTGAATAGCACGAGCCCATTTTTATAATTAAAAAAAAGGGTGTACACTTATAAAAGCAGCAGAAATATTTGGAAGGAAACCATGCCCCTGCTCTGAAAGAACAGGACGGTAGAGCAAGAAGAAAATGAAGCAGGCTGGGACTCCCTGAGCAGCGCAGTGAGTAGCCAGCCTGCCGCCCATCAGTGGGAGGTGGCAGGAGAGGGACGGGTGAGCAGGGCCCACTGCCTATGAGCAGGGCACTGGCCCCAGCCGGGGCTGGGGAGGAGCAGAAGCTGTAGGGCAAGCCTGATCTGTGGCCTCATCCCTAGGGGAAGGATGGGGGCATTTGCGGGGAGGCAGAAGGGTGGGGAGCCTAAATCAGGAACCAGCAGGAGGTGGAGTGAGGCTGGCAGGCTGGGGGTGGCAGCAGAGCAAATCGGCACCTGCGCAGAAGCAGCCTTGGGAGTCAAGGCCTTTCTCCATGGGGATAGCCACCAGGTACTGCAGCAGGAAGCCATTCTCCCGGGTGGCAAATTTCAGCACCTCCTGACAGTTTTCATCCAGGCTCCCGCCCAGGGTCACCGCCTCCTCGGCTGTCTCCAAGTAGGATGCCAGGACTTTGCGGACCAGATCCCTCCACAGGGCGGCTTCCTCGGCGTTTCCGGCCTGCAGCTTCAGGACAGCCTTGGCCGTGATGATTTTGAAGAAGGATGGGCCCCCAAGGCTGGTGTCTGGCAGGATGTCCCGGATGGTCTCCACGCCGTGGCTGTCACTCAGCATCTTCTCATTGTTCCTGATGCGGAAACATTTCAGAGCCTCCAAGGACAGAGAAAATATATAGGGCATCCAGGTCCTGTCCATGTACAAGTACAGCAGGGACTCCTTGATGGCATCTGGCTCTGGAACCTGGGCGGACGACCAGTCAAACTGTGTGCCCTGGAGGGCCGCGGGCTCCGAGAGCAGGTCTGAGGGAGAGAGGCAGCCCTGGGGCGCCTCGGGGGGTTCCTCAGGCTGGTCTGGGTACTGCACGTTCACCCACTCATCCTCCTGCTGAGGCCGGACCTTCTGCAGGGCCTCCCGCACCCGGTCCAGCCAGTCCTCAGCTTCGTCCTGGGAGGAGGCGCGCAGGGCCAGCTTCTTGCCAGAGAAGACCAGCTCAAAGCGCCCATCACTATGGGCTGGCCCCACAGACTCACAGCGAAGCAGCGAGCAGTTCTCCACACAGGTGTGCTCCTCGTTGCTCAGGTAGAGGCGGAACTCCAGCGGGGAGAGCTCGCAGAAGAGCTCCTTCCAGATGCCCATTGCCCCCCGCCGCTCCACGGTGCCCAGCTTCATGAGACCCCGGAATGGGTTGGACAGTCCTGGAGGCAGAGGCAAAAAGGGGCACATTAGTTGGCGGGCCTGTCTCTGTCCTGCCCAAGGCAGCCTCTGCTGCCTGATGCCCTGCAGTGCATGTGGCCAGTGACTGTCCCCAGAACACAGGCCAGCCACGGGGCACTATCACATGGGACCCTGAAAGCTGGATGGGAACATCCCCATTCTCACCGTCCACTGCTGCTCTTGCGTCCTGTATTTCACTGAGAAAATAAGAGCACCCAAAAGATCCCCTCCACACGCCCTGTTCCCTACACCCACGCCTTCCCTCCTGCTGCCAGGGATGAACCAAGTGTGCTTCTTTCTGCGTGAGGCCAAACCCTCCATTTGTGCAGGAGGTCTCTCCCTTGGCCAACTACTCAAGGACAAGGAGCAGTCCTCTCCTCTGTCACTGCTTTCTTCCTTCTCTATGGGGTGACTCCCATCGGCACACATGCACGCTGTCATTTCTCCCATCTTTAGAAACACCTCTCGTCTCCATGCACTTCCCTAATGACCACCATATTTCTCAGGCCCCTTTACAGAAAACCTGTTTGAAGAGGCATCAAAACTGTTCATCTTGGCCGGAAGCGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGTGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGAGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCTTGAACCGGGAAGGCAGGGGATTGCAGTGAGCTGAGGTCACTCCACTGCACTTCAGCCTGGGTGACAGAGGAGTGAGACTCCGTCTCAACAAAACAAAAAACCTCTTGGTCTCTAGTTTCCCTGCTCCCATTCCTTCTCGAACCTGCTCCAAGTAGGCTTCTCTCCCCCCATTCTACTGACACTGTTTCTGAGATGGTCAATGCCCTCCTCGTTGCCAAACCCCAAGGCCACTCCTCAGCCCTCGCCCCCACCCTTCTATCTCTCTGGCTCGGTCCTCCCTGTGGCCTCTCACGTTAGAGTGCCCAGATGTCAGTCCTGGGTCCTTGTCTCCTCTCTGTAGATGCCACTTTCTCACCACTCTACCTGCTCTCAGGCTTTAGCTCCCAATTTTTATCGCCAGCCTGGACCTTGTTCTTGAAATCCACATTCATATATCCACCTGTGCCATACATGTCCACTAGGATCTCAGCTGACATGTCCAGGATGAATTCCTGCTGCCAGCCTGCTTCCTCCTGAATGGTCCTCATCTCACCAAATAGCAAAATTCATCCTTCCAGATGCCTGGGCTAAAAATCTTGGTGTTACCCCAGGTTTTCTTTCTTTCGCAGCCTACATCAGCAAATCCCATTGGCTCTGCCTTCCACACATCCGGAATCCCCGCCTCTCCCCAGCTGCACCCCACCCACTGTCATCTCTGGCCTGGCTTGTGATGACAA
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CCCAGATGCCAGTGGTTGGTGTCTGCCACTGAGCCATGCCTGCTGGGTAGAAAGGAAACCCAAACTCCCCGGTGGCACAGTCCCACCCGCTGGTGGGTGGCAGCCATGGTGAGAGTTGCCCCCGCAGCATTCACACCCACAGGCGAGGAACCCTTTCTTGCAAGCCCTGGAGTCCTGGCCCCCTCAGAGCCTGGCCTTCACAGGCTGAAGAGCAAAGTGTGAGCGCTGGGGCAGGCGGGGGAGAGGTCAAGCGAGGCTTGCAGGTGTTTTCTGCAGGAAGCTCTGTTCTGCCTAGCTTCTCCCATCCTCGCGGGGCCAACCGCAGACCAATTCCTTTCAGATGCTTGAAACAGGCTTCCCTCCAGTCTGTGCCAACAGGACAGCTCCCAAACCAAGGCTCAGCTTCTTGCTCTGGCCTTCTGCAGCAGGACAACCCCCTCACAGGTCACCTAAGGGTCCCATGGTGATGGGATGCCATCTGCCCCTGGATGGTGGGGGGAGTGGGAGGGGCTAACAATGGAACATGGGCAGGGGGATGTCACTCAACCTTGAATAAGACCCTAGAGGGATGCCCTCTAGGGTCCTGCCTATGAGCAAAGGCTCTGGGGCCTGACTGTCAGGGTCCCATTTCTGCCTCTGGCCAGGCATGGTTGCTGATATCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGAGGAACACTTGAGCCTAGGAGTTCAAGACTAGCTTGAGCAACAGGGGGAGACCCCATCTCTACTAAAACAAACAAACAAACAAACAAAAAAGGAAAATTCTGCCTCTGCCACTTACTAGCTGTGTGAGCTCAGTAGCAGACACCAACCAGGTACTTACCAGCTCTGTGCTTCAGTTTCCTCCCCTATCAACAGAGATGATAATAGTAGCGCCTATCTCTACAGGGTTGTTATGAGACTTAAATGAGATAATCCAAATAAAGCAGCTGGCCCAGTGCCCAGCACAGAAGTATTAGATTTGATGATGAGGAAGACATAGCAGATGTACTGACTTGGAATAACATCCACAGTGTAGGAAAAAACCAAGTTGTGGAACAATATATCCAGCATTCAACACAGCAGCCAAGAGCCCCGTGTGTCCCCTTTAAATGCAAATGAATTTAAATAGAAAATTCAGTTGCTTAACCACACTAGCCACACTTTAAGCACCTGGTAGCACTACATGGCTCGCAGCTATGGCACTGGACACACAGATCTAGGACATTTTCATCATCACAGAAAGTTCTATTGGACAGCACTGAATAGCACGAGCCCATTTTTATAATTAAAAAAAAGGGTGTACACTTATAAAAGCAGCAGAAATATTTGGAAGGAAACCATGCCCCTGCTCTGAAAGAACAGGACGGTAGAGCAAGAAGAAAATGAAGCAGGCTGGGACTCCCTGAGCAGCGCAGTGAGTAGCCAGCCTGCCGCCCATCAGTGGGAGGTGGCAGGAGAGGGACGGGTGAGCAGGGCCCACTGCCTATGAGCAGGGCACTGGCCCCAGCCGGGGCTGGGGAGGAGCAGAAGCTGTAGGGCAAGCCTGATCTGTGGCCTCATCCCTAGGGGAAGGATGGGGGCATTTGCGGGGAGGCAGAAGGGTGGGGAGCCTAAATCAGGAACCAGCAGGAGGTGGAGTGAGGCTGGCAGGCTGGGGGTGGCAGCAGAGCAAATCGGCACCTGCGCAGAAGCAGCCTTGGGAGTCAAGGCCTTTCTCCATGGGGATAGCCACCAGGTACTGCAGCAGGAAGCCATTCTCCCGGGTGGCAAATTTCAGCACCTCCTGACAGTTTTCATCCAGGCTCCCGCCCAGGGTCACCGCCTCCTCGGCTGTCTCCAAGTAGGATGCCAGGACTTTGCGGACCAGATCCCTCCACAGGGCGGCTTCCTCGGCGTTTCCGGCCTGCAGCTTCAGGACAGCCTTGGCCGTGATGATTTTGAAGAAGGATGGGCCCCCAAGGCTGGTGTCTGGCAGGATGTCCCGGATGGTCTCCACGCCGTGGCTGTCACTCAGCATCTTCTCATTGTTCCTGATGCAGAAACATTTCAGAGCCTCCAAGGACAGAGAAAATATATAGGGCATCCAGGTCCTGTCCATGTACAAGTACAGCAGGGACTCCTTGATGGCATCTGGCTCTGGAACCTGGGCGGACGACCAGTCAAACTGTGTGCCCTGGAGGGCCGCGGGCTCCGAGAGCAGGTCTGAGGGAGAGAGGCAGCCCTGGGGCGCCTCGGGGGGTTCCTCAGGCTGGTCTGGGTACTGCACGTTCACCCACTCATCCTCCTGCTGAGGCCGGACCTTCTGCAGGGCCTCCCGCACCCGGTCCAGCCAGTCCTCAGCTTCGTCCTGGGAGGAGGCGCGCAGGGCCAGCTTCTTGCCAGAGAAGACCAGCTCAAAGCGCCCATCACTATGGGCTGGCCCCACAGACTCACAGCGAAGCAGCGAGCAGTTCTCCACACAGGTGTGCTCCTCGTTGCTCAGGTAGAGGCGGAACTCCAGCGGGGAGAGCTCGCAGAAGAGCTCCTTCCAGATGCCCATTGCCCCCCGCCGCTCCACGGTGCCCAGCTTCATGAGACCCCGGAATGGGTTGGACAGTCCTGGAGGCAGAGGCAAAAAGGGGCACATTAGTTGGCGGGCCTGTCTCTGTCCTGCCCAAGGCAGCCTCTGCTGCCTGATGCCCTGCAGTGCATGTGGCCAGTGACTGTCCCCAGAACACAGGCCAGCCACGGGGCACTATCACATGGGACCCTGAAAGCTGGATGGGAACATCCCCATTCTCACCGTCCACTGCTGCTCTTGCGTCCTGTATTTCACTGAGAAAATAAGAGCACCCAAAAGATCCCCTCCACACGCCCTGTTCCCTACACCCACGCCTTCCCTCCTGCTGCCAGGGATGAACCAAGTGTGCTTCTTTCTGCGTGAGGCCAAACCCTCCATTTGTGCAGGAGGTCTCTCCCTTGGCCAACTACTCAAGGACAAGGAGCAGTCCTCTCCTCTGTCACTGCTTTCTTCCTTCTCTATGGGGTGACTCCCATCGGCACACATGCACGCTGTCATTTCTCCCATCTTTAGAAACACCTCTCGTCTCCATGCACTTCCCTAATGACCACCATATTTCTCAGGCCCCTTTACAGAAAACCTGTTTGAAGAGGCATCAAAACTGTTCATCTTGGCCGGAAGCGGTGGCTCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGTGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGTGAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGAGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATGGCTTGAACCGGGAAGGCAGGGGATTGCAGTGAGCTGAGGTCACTCCACTGCACTTCAGCCTGGGTGACAGAGGAGTGAGACTCCGTCTCAACAAAACAAAAAACCTCTTGGTCTCTAGTTTCCCTGCTCCCATTCCTTCTCGAACCTGCTCCAAGTAGGCTTCTCTCCCCCCATTCTACTGACACTGTTTCTGAGATGGTCAATGCCCTCCTCGTTGCCAAACCCCAAGGCCACTCCTCAGCCCTCGCCCCCACCCTTCTATCTCTCTGGCTCGGTCCTCCCTGTGGCCTCTCACGTTAGAGTGCCCAGATGTCAGTCCTGGGTCCTTGTCTCCTCTCTGTAGATGCCACTTTCTCACCACTCTACCTGCTCTCAGGCTTTAGCTCCCAATTTTTATCGCCAGCCTGGACCTTGTTCTTGAAATCCACATTCATATATCCACCTGTGCCATACATGTCCACTAGGATCTCAGCTGACATGTCCAGGATGAATTCCTGCTGCCAGCCTGCTTCCTCCTGAATGGTCCTCATCTCACCAAATAGCAAAATTCATCCTTCCAGATGCCTGGGCTAAAAATCTTGGTGTTACCCCAGGTTTTCTTTCTTTCGCAGCCTACATCAGCAAATCCCATTGGCTCTGCCTTCCACACATCCGGAATCCCCGCCTCTCCCCAGCTGCACCCCACCCACTGTCATCTCTGGCCTGGCTTGTGATGACAA
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Task1_train_24791
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A variant was discovered in gene MAPT (microtubule associated protein tau), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Supranuclear palsy, progressive, 1
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GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTCTCATCAAGAAATAGCAAAGTACTGTTTTACTCAAAATATGAATAGAGCCAGGCATGGTGGCAGCTTATGCCTGTAATCCCAACACTTTGAGAGGCGGATATGGGAGGATCACTTTAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCCGTCCCCACTCCCCCAAAGAAAACCCACAAAGCATTTATCCTGGATTATTCACAGGGGCCAAAAAAAAAAAAAAAAATTCAGGCCTCCTATAGCCATGAGCTACGAATATGAAAATATGCAAATGTGTAAGAAAAGCCAGCACATCCGATTTTTACTTTTACTTTCACACCTCTGTCCACCATGTTCCAAGAGAAGAAACTTGGTCATTGAAAGGAATAGATCAAATCCAAAGAACAAAACCACTGTGCTCATTAAACTTCTTAGTGTTCACAAAGCTTTAGCTGCAGGTTGAATGGGGCAACCCGAATTGGCTGGCTCACCTGGGCTGCAGGGAGCAGAGATCGCGACACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTATCTCAAAAAAAAAAAAGTTCATAAATTCAAAGTTATGAATTATTTTTAAAATAATAATAATTTACAATAAAGATGAGGACAAAGTGTGAGTAAATGGTGGTTTCTATCCAGCTCTGTTGAGCTGAAGTGGCATCTCCCTGCTGGGGCTTTTGGGGAAGAAGGGTGTGTGTTGCTCTTCAGATCCCAAGCCTCATGCCCCTACTGGGCCCTGTGGGGTGCTTCTCAGCCCACCAGGAGAGCCACCGTTGGAACACACACGTGGGGGACCTGGTGGGTGCCGGTGTGGTGAATGGGGGCCACAGCCTGACTCCAGGAAGCCAGCAAACTCGGAGCTGGAGGAGTCAGGACACCCCCGATGAGTCAAGAGTTGGTTTTGCTGCCAGTTGACATCTGATTGAACCATCTCTTCACTTCTCCGTGCCTCACTTTCCTTACCAGACAGGCTCTGCTGATGCTGTCCCTCTCCTGTTCAGTCGTGCCCTCACCGTTAAAGAGAAAGAGCAAACTGCTGGGCAGCAGCATTGATTTTTTTAATGAAGTGGAAAGAGAGCTGGGAATAACAAGTCGGGCCCACCTCACCTGCCTCACCTGGTGGGTTTATTTGTTTTGTTTTTTTTTTTTTGTTTTGAGACAGAGTTTCACCCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCACCTGCCAGGTTCAATTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCACATGCCTGGCTAATTATTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATCACAGGCGTGAGCCACCATGCCTGGCCGTCACCTGGTGGTGTTGAATATGAACTGCTGCGGTGTTGGTAAATTAAGCAAGCAGATAGATGTAAATAACGCTTGGGCAGGAATATGGAGCACGGGATGAGGATGGGCGGCCAACTGTTAGAGAGGGTAGCAGGGAGGCTGAGATCTGCCTGCCATGAACTGGGAGGAGAGGCTCCTCTCTCTCTTCACCCCCACTCTGCCCCCCAACACTCCTCAGAACTTATCCTCTCCTCTTCTTTCCCCAGGTGAACTTTGAACCAGGATGGCTGAGCCCCGCCAGGAGTTCGAAGTGATGGAAGATCACGCTGGGACGTACGGGTTGGGGGACAGGAAAGATCAGGGGGGCTACACCATGCACCAAGACCAAGAGGGTGACACGGACGCTGGCCTGAAAGGTTAGTGGACAGCCATGCACAGCAGGCCCAGATCACTGCAAGCCAAGGGGTGGCGGGAACAGTTTGCATCCAGAATTGCAAAGAAATTTTAAATACATTATTGTCTTAGACTGTCAGTAAAGTAAAGCCTCATTAATTTGAGTGGGCCAAGATAACTCAAGCAGTGAGATAATGGCCAGACACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCCAGGCAGGAGGATCCCTTGAGGCCAGGAATTTGAGACCGGCCTGGGCAACATAGCAAGACCCCGTCTCTAAAATAATTTAAAAATTAGCCAGGTGTTGTGGTGCATGTCTATAGTCCTAGCTACTCAGGATGCTGAGGCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGTTGCAGTAAGCTGTGATTATAAAACTGCACTCCAGCCTGAGCAACAGAGCAAGACCCTGTCAAAAAAAAAAGAAAAGAAAAAAGAAAGAAAGAAATTTACCTTGAGTTACCCACATGAGTGAATGTAGGGACAGAGATTTTAGGGCCTTAACAATCTCTCAAATACAGGGTACTTTTTGAGGCATTAGCCACACCTGTTAGCTTATAAATCAGTGGTATTGATTAGCATGTAAAATATGTGACTTTAAACATTGCTTTTTATCTCTTACTTAGATCAGGCCTGAGTGGCCTCTCTTTAGCAAGAGTTGGTTAGCCCTGGGATTCTTACTGTAGCCACATTAATAAACAACATCGACTTCTAAACATTCTATAATACCATCTTTTGGCCAAATTGACTTCGCCTCTTCCTCTCTCTTTCCAAATGAAATGTGTTTCATTTCACTGTCAGACCACATGGTTGGGGACCCCACAGAGCACACAGCCCTCCCTCTGCCTTCCCATGCTGGCCCTTCACCCACTGCTGGAGTGCCAGGTTGGTCCAAGGGTTGGACCAAGTTGTCTGAGGTTGTCTCAAGGTTGGTCGAGGCTGTCTCCGCGCTGGGTTGTGCTACAAGGAGCCCTTCTTTCCATGGGTGTGGCTGGCAGTGAGTGCTCACAGCAACAGCCCACAGTGCAGCCCGAGGGCAGGATGGACTCAGTCCCTGCCTCCATACCCATTTCTAAGGAGGCAAAATGGCAAACACTCTACTTTTCTCTTTTAATGCTAAAAATAAGAAAACACCTTGCAGCCCAGGGTATGGGTAGTGCATGGAAGCCGTGGAGTTGTGAGGTGGGAAGTGACCTCTGCTGGATATGTCTATTCAGGAAGATTGCTGGAGTGGGTGGGGTCTCTGGGAGGTCCCCTGAGTGTGGGAAGCTGGGACCACCAGCTTTCTCGCACAGGGAGTGGCCATCCCAGCTTGGAGAGGTTCCAGGACTGGTTGGGAGGCACGTTTCAGATTTCTATCTGTTGAATCAGCGAAGATATTGGATTATGAGGAATTTGGGAATTAGGAAAGTGGGTGCAGGTGGGTTGGGGGTAGGTGAAGGAAGACATGGGCGTATTGGGGGAGCAGGGGCTGCTCAGAGGTGTTCCAGAAGCTCTGGGTGAGGAGGTGAGAGGGACCGGGGAATGCAGCTCGGCCCAGCCTCCCTGCCTGAGGTCAGCCATCACGTGGTGATGGCAAGATGGAAATGTGCTTTCTGACTGCTCCAGCCAGTGCTGCCAGATTCAGCTCCCCAGGGAGGGCACCTGAGAGGCTCCAAGCCAGGAGATCTGTTTTCTCCTTTGTTTTGTTTTTTTTTGTTTTGTTTTGTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATCAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCCTGTTTTCTCCTTTGAATCCTTCTTAGAG
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GAGAACAGCAGAGCCGTTTTAGGATGGGACAGGGCAGCCAGGAGGATTGGGCTCACTCCCTACTGAGTGCCTCACTCCCGTACAGCCCCCATAGAGGAAGAGGGGTTCAAATTTATTCCTCAGCCAGATGGCATGTGCCGCCTGTCCTGGAATTTCACATCACTTATGATGGACCAAAATTCCAAAAGCTGAATCCATGATTGTCAAAGTCTGGTATGGCAGGATGTCAACAGTAATCGTTTCTGGGCAGAGGGATGATTTTCTCTTCCCATCTTGCTTTGTATAAATACATTTTCTATAATAAGGTTGTATTACTTTTCTCATCAAGAAATAGCAAAGTACTGTTTTACTCAAAATATGAATAGAGCCAGGCATGGTGGCAGCTTATGCCTGTAATCCCAACACTTTGAGAGGCGGATATGGGAGGATCACTTTAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACCCCCGTCCCCACTCCCCCAAAGAAAACCCACAAAGCATTTATCCTGGATTATTCACAGGGGCCAAAAAAAAAAAAAAAAATTCAGGCCTCCTATAGCCATGAGCTACGAATATGAAAATATGCAAATGTGTAAGAAAAGCCAGCACATCCGATTTTTACTTTTACTTTCACACCTCTGTCCACCATGTTCCAAGAGAAGAAACTTGGTCATTGAAAGGAATAGATCAAATCCAAAGAACAAAACCACTGTGCTCATTAAACTTCTTAGTGTTCACAAAGCTTTAGCTGCAGGTTGAATGGGGCAACCCGAATTGGCTGGCTCACCTGGGCTGCAGGGAGCAGAGATCGCGACACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCTATCTCAAAAAAAAAAAAGTTCATAAATTCAAAGTTATGAATTATTTTTAAAATAATAATAATTTACAATAAAGATGAGGACAAAGTGTGAGTAAATGGTGGTTTCTATCCAGCTCTGTTGAGCTGAAGTGGCATCTCCCTGCTGGGGCTTTTGGGGAAGAAGGGTGTGTGTTGCTCTTCAGATCCCAAGCCTCATGCCCCTACTGGGCCCTGTGGGGTGCTTCTCAGCCCACCAGGAGAGCCACCGTTGGAACACACACGTGGGGGACCTGGTGGGTGCCGGTGTGGTGAATGGGGGCCACAGCCTGACTCCAGGAAGCCAGCAAACTCGGAGCTGGAGGAGTCAGGACACCCCCGATGAGTCAAGAGTTGGTTTTGCTGCCAGTTGACATCTGATTGAACCATCTCTTCACTTCTCCGTGCCTCACTTTCCTTACCAGACAGGCTCTGCTGATGCTGTCCCTCTCCTGTTCAGTCGTGCCCTCACCGTTAAAGAGAAAGAGCAAACTGCTGGGCAGCAGCATTGATTTTTTTAATGAAGTGGAAAGAGAGCTGGGAATAACAAGTCGGGCCCACCTCACCTGCCTCACCTGGTGGGTTTATTTGTTTTGTTTTTTTTTTTTTGTTTTGAGACAGAGTTTCACCCTGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTGCAACCTCCACCTGCCAGGTTCAATTGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACCTGCCACATGCCTGGCTAATTATTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCGATCCCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGAGATCACAGGCGTGAGCCACCATGCCTGGCCGTCACCTGGTGGTGTTGAATATGAACTGCTGCGGTGTTGGTAAATTAAGCAAGCAGATAGATGTAAATAACGCTTGGGCAGGAATATGGAGCACGGGATGAGGATGGGCGGCCAACTGTTAGAGAGGGTAGCAGGGAGGCTGAGATCTGCCTGCCATGAACTGGGAGGAGAGGCTCCTCTCTCTCTTCACCCCCACTCTGCCCCCCAACACTCCTCAGAACTTATCCTCTCCTCTTCTTTCCCCAGGTGAACTTTGAACCAGGATGGCTGAGCCCCTCCAGGAGTTCGAAGTGATGGAAGATCACGCTGGGACGTACGGGTTGGGGGACAGGAAAGATCAGGGGGGCTACACCATGCACCAAGACCAAGAGGGTGACACGGACGCTGGCCTGAAAGGTTAGTGGACAGCCATGCACAGCAGGCCCAGATCACTGCAAGCCAAGGGGTGGCGGGAACAGTTTGCATCCAGAATTGCAAAGAAATTTTAAATACATTATTGTCTTAGACTGTCAGTAAAGTAAAGCCTCATTAATTTGAGTGGGCCAAGATAACTCAAGCAGTGAGATAATGGCCAGACACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCCCAGGCAGGAGGATCCCTTGAGGCCAGGAATTTGAGACCGGCCTGGGCAACATAGCAAGACCCCGTCTCTAAAATAATTTAAAAATTAGCCAGGTGTTGTGGTGCATGTCTATAGTCCTAGCTACTCAGGATGCTGAGGCAGAAGGATCACTTGAGCCCAGGAGTTCAAGGTTGCAGTAAGCTGTGATTATAAAACTGCACTCCAGCCTGAGCAACAGAGCAAGACCCTGTCAAAAAAAAAAGAAAAGAAAAAAGAAAGAAAGAAATTTACCTTGAGTTACCCACATGAGTGAATGTAGGGACAGAGATTTTAGGGCCTTAACAATCTCTCAAATACAGGGTACTTTTTGAGGCATTAGCCACACCTGTTAGCTTATAAATCAGTGGTATTGATTAGCATGTAAAATATGTGACTTTAAACATTGCTTTTTATCTCTTACTTAGATCAGGCCTGAGTGGCCTCTCTTTAGCAAGAGTTGGTTAGCCCTGGGATTCTTACTGTAGCCACATTAATAAACAACATCGACTTCTAAACATTCTATAATACCATCTTTTGGCCAAATTGACTTCGCCTCTTCCTCTCTCTTTCCAAATGAAATGTGTTTCATTTCACTGTCAGACCACATGGTTGGGGACCCCACAGAGCACACAGCCCTCCCTCTGCCTTCCCATGCTGGCCCTTCACCCACTGCTGGAGTGCCAGGTTGGTCCAAGGGTTGGACCAAGTTGTCTGAGGTTGTCTCAAGGTTGGTCGAGGCTGTCTCCGCGCTGGGTTGTGCTACAAGGAGCCCTTCTTTCCATGGGTGTGGCTGGCAGTGAGTGCTCACAGCAACAGCCCACAGTGCAGCCCGAGGGCAGGATGGACTCAGTCCCTGCCTCCATACCCATTTCTAAGGAGGCAAAATGGCAAACACTCTACTTTTCTCTTTTAATGCTAAAAATAAGAAAACACCTTGCAGCCCAGGGTATGGGTAGTGCATGGAAGCCGTGGAGTTGTGAGGTGGGAAGTGACCTCTGCTGGATATGTCTATTCAGGAAGATTGCTGGAGTGGGTGGGGTCTCTGGGAGGTCCCCTGAGTGTGGGAAGCTGGGACCACCAGCTTTCTCGCACAGGGAGTGGCCATCCCAGCTTGGAGAGGTTCCAGGACTGGTTGGGAGGCACGTTTCAGATTTCTATCTGTTGAATCAGCGAAGATATTGGATTATGAGGAATTTGGGAATTAGGAAAGTGGGTGCAGGTGGGTTGGGGGTAGGTGAAGGAAGACATGGGCGTATTGGGGGAGCAGGGGCTGCTCAGAGGTGTTCCAGAAGCTCTGGGTGAGGAGGTGAGAGGGACCGGGGAATGCAGCTCGGCCCAGCCTCCCTGCCTGAGGTCAGCCATCACGTGGTGATGGCAAGATGGAAATGTGCTTTCTGACTGCTCCAGCCAGTGCTGCCAGATTCAGCTCCCCAGGGAGGGCACCTGAGAGGCTCCAAGCCAGGAGATCTGTTTTCTCCTTTGTTTTGTTTTTTTTTGTTTTGTTTTGTTTTATTATACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATCAACTTGTCATTTACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCCTGTTTTCTCCTTTGAATCCTTCTTAGAG
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Task1_train_24792
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A genetic alteration is present in MAPT (microtubule associated protein tau) on Chromosome 17. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Pick disease
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TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGC
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TATAATCCCGGCACTTTGGGAGGTTGAGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCACGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGC
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Task1_train_24793
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Located on Chromosome 17, this mutation impacts MAPT (microtubule associated protein tau). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Frontotemporal dementia
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AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAAC
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AGGTGGGAGAATCGCTTGAGGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACGTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAAC
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Task1_train_24794
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Here is a mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Frontotemporal dementia
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GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGGCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAACTCACAGGTGACCCAGGGCC
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GGCCAGAAGTTCAAGACCAGCCTGAGCAACATAGTCAGACCCCGTCTCTATAAAAAACATTATTTTTAAAAAAGACATGGAAGTCAAATTCTAAAAACTGGTGCTGGCTGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCTCTACTAAAGAAATCTTTACTGAAAATACAAAAATCCAGTCTCTACTAAAATAAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGCTGCACACCTGTAATATCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTTGATCCCATGCAGCGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCATCAGAATAAGACTCCGTCTCAAAAAAAAAACCACAAAAAAACAAAACAACAACAAAAGAAAACTAGTGCTTATTCGTCACTGGCCAAGCTGCCCATTGGCTACATGGGTGCTTCAAAGAGCTGCCCTTCTCCAGGTCTGGCCAGCAGGTATGTGTTACAGCAAATGCCTGGGGCAGCGGCAGGGGCATTGCTGCGGGAAGCTTCTGGACTTGCAGGAAAGCTAAGTTCTCAGACTGCAGGGGAGCTAAGCACACCTCGGCACAGGGTGAGGCCTGCGGTTCTCAGACTTCAGTCTTTGTGGAGCTTGAGAAAAATGAGGCTTTGCAGGTCCCACCCCTAGAGATTCTGCTCTATCCACTCTTGAAGGGGATCGAGAAATTTGCATTTTGCAACTCCCACTTTCCTCCTTGAAAGCTCCGGAGATTCTGACGCAGGGTTCCGTGGGCCACACTTTGGAAAATACAGACCCATGAGATAGAATACCAGACTGTTGAAGTGTAACGGGGGCCTGGGAAGTGCAGTAACAGAAGCAAGTTTGAGGGTAAAGGACACCCAGAGGAGGGAGGGACAGCATCTGCATGGAGAGGAGAAGAGACCCCCCAGCAGCTTCCAGGGTGTTGGAAGGGTGCGCTAGTAACTGCTATGCATGGCAGGTGGGGAACTGTACGTCAGGGCACAGCAGCATGAAGCGGTATGGCTCGTGTGGACAGCTAGGGACAGGCAGGCGTGGAGCAGGCATCCTGTTCTGAAGGCCAAATCCCACAGAGGAGCCAGGGTGCTGGCAGGAGCCCTGAACTAGCCGAACAGCTGAACAGCTGAACATTCACCCTGTGGGGAAAGGGTCAGAAGCGTCCAGGCTTGAGGGCACAGCTGGGTCTCGTCACTGCATCACCCTTATTTAGGATAAAGGCCCTGAAGAATTGTATTAGAGGTTGGCAAAGCATATCTACCACCTCCTGGAGCCACGCTGGCCGCAGGGATTATAATTATTTCCATTTTCAAATTAAGGCCTCTGAGCTCAGAGAGGGGAAGTTACTTGTCTGAGGCCACACAGCTTGTTGGAGCCCATCTCTTGACCCAAAGACTGTGGAGCCGAGTTGGCCACCTCTCTGGGAGCGGGTATTGGATGGTGGTTGATGGTTTTCCATTGCTTTCCTGGGAAAGGGGTGTCTCTGTCCCTAAGCAAAAAGGCAGGGAGGAAGAGATGCTTCCCCAGGGCAGCCGTCTGCTGTAGCTGCGCTTCCAACCTGGCTTCCACCTGCCTAACCCAGTGGTGAGCCTGGGAATGGACCCACGGGACAGGCAGCCCCCAGGGCCTTTTCTGACCCCACCCACTCGAGTCCTGGCTTCACTCCCTTCCTTCCTTCCCAGGTGAACCTCCAAAATCAGGGGATCGCAGCGGCTACAGCAGCCCCGGCTCCCCAGGCACTCCCGGCAGCCGCTCCCGCACCCCGTCCCTTCCAACCCCACCCACCCGGGAGCCCAAGAAGGTGGCAGTGGTCCGTACTCCACCCAAGTCGCCGTCTTCCGCCAAGAGCCGCCTGCAGACAGCCCCCGTGCCCATGCCAGACCTGAAGAATGTCAAGTCCAAGATCGGCTCCACTGAGAACCTGAAGCACCAGCCGGGAGTCGGGAAGGTGAGAGTGGCTGGCTGCGCGTGGAGGTGTGGGGGGCTGCGCCTGGAGGGGTAGGGCTGTGCCTGGAAGGGTAGGGCTGCGCCTGGAGGTGCGCGGTTGAGCGTGGAGTCGTGGGACTGTGCATGGAGGTGTGGGGCTCCCCGCACCTGAGCACCCCCGCATAACACCCCAGTCCCCTCTGGACCCTCTTCAAGGAAGTTCAGTTCTTTATTGGGCTCTCCACTACACTGTGAGTGCCCTCCTCAGGCGAGAGAACGTTCTGGCTCTTCTCTTGCCCCTTCAGCCCCTGTTAATCGGACAGAGATGGCAGGGCTGTGTCTCCACGGCCGGAGGCTCTCATAGTCAGGGCACCCACAGCGGTTCCCCACCTGCCTTCTGGGCAGAATACACTGCCACCCATAGGTCAGCATCTCCACTCGTGGGCCATCTGCTTAGGTTGGGTTCCTCTGGATTCTGGGGAGATTGGGGGTTCTGTTTTGATCAGCTGATTCTTCTGGGAGCAAGTGGGTGCTCGCGAGCTCTCCAGCTTCCTAAAGGTGGAGAAGCACAGACTTCGGGGGCCTGGCCTGGATCCCTTTCCCCATTCCTGTCCCTGTGCCCCTCGTCTGGGTGCGTTAGGGCTGACATACAAAGCACCACAGTGAAAGAACAGCAGTATGCCTCCTCACTAGCCAGGTGTGGGCGGGTGGGTTTCTTCCAAGGCCTCTCTGTGGCCGTGGGTAGCCACCTCTGTCCTGCACCGCTGCAGTCTTCCCTCTGTGTGTGCTCCTGGTAGCTCTGCGCATGCTCATCTTCTTATAAGAACACCATGGCAGCTGGGCGTAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCGAGACCAACCTGACCAACAGGGTGAAACCTCGTCTCTACTAAAAATACAAAAATACCTGGGCGTGGTGGTGGTGCGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATAGTGCCACTGCACTCCAGTTTGAGCAACAGAGCGAGACTCTGTCTCAAAACAAAATAAAACAAACCAAAAAAACCCACCATGGCTTAGGGCCCAGCCTGATGACCTCATTTTTCACTTAGTCACCTCTCTAAAGGCCCTGTCTCCAAATAGAGTCACATTCTAAGGTACGGGGGTGTTGGGGAGGGGGGTTAGGGCTTCAACATGTGAATTTGCGGGGACCACAATTCAGCCCAGGACCCCGCTCCCGCCACCCAGCACTGGGGAGCTGGGGAAGGGTGAAGAGGAGGCTGGGGGTGAGAAGGACCACAGCTCACTCTGAGGCTGCAGATGTGCTGGGCCTTCTGGGCACTGGGCCTCGGGGAGCTAGGGGGCTTTCTGGAACCCTGGGCCTGCGTGTCAGCTTGCCTCCCCCACGCAGGCGCTCTCCACACCATTGAAGTTCTTATCACTTGGGTCTGAGCCTGGGGCATTTGGACGGAGGGTGGCCACCAGTGCACATGGGCACCTTGCCTCAAACCCTGCCACCTCCCCCCACCCAGGATCCCCCCTGCCCCCGAACAAGCTTGTGAGTGCAGTGTCACATCCCATCGGGATGGAAATGGACGGTCGGGTTAAAAGGGACGCATGTGTAGACCCTGCCTCTGTGCATCAGGCCTCTTTTGAGAGTCCCTGCGTGCCAGGCGGTGCACAGAGGTGGAGAAGACTCGGCTGTGCCCCAGAGCACCTCCTCTCATCGAGGAAAGGACAGACAGTGGCTCCCCTGTGGCTGTGGGGACAAGGGCAGAGCTCCCTGGAACACAGGAGGGAGGGAAGGAAGAGAACATCTCAGAATCTCCCTCCTGATGGCAAACGATCCGGGTTAAATTAAGGTCCGGCCTTTTCCTGCTCAGGCATGTGGAGCTTGTAGTGGAAGAGGCTCTCTGGACCCTCATCCACCACAGTGGCCTGGTTAGAGACCTTGGGGAAATAACTCACAGGTGACCCAGGGCC
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Task1_train_24795
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This variant lies on Chromosome 17 and affects the gene MAPT (microtubule associated protein tau). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Frontotemporal dementia
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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Task1_train_24796
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A variant has been detected on Chromosome 17 in MAPT (microtubule associated protein tau). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Progressive supranuclear ophthalmoplegia
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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Task1_train_24797
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A mutation in MAPT (microtubule associated protein tau), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Pick disease
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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Task1_train_24798
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Consider this mutation in MAPT (microtubule associated protein tau) on Chromosome 17. Is this a benign change or a disease-causing variant?
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Pathogenic; Frontotemporal dementia
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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Task1_train_24799
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This variant affects gene MAPT (microtubule associated protein tau) located on Chromosome 17. Evaluate its biological effect and specify any disease association.
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Pathogenic; Parkinson disease, late-onset
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAATAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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GACGGGGTTTCACCACGTTGGCCAGGCTGCTCTTGAACTCCTGACGTCAGGTGATCCACCAGCCTTGACCTCCCAAAGTGCTAGGATTACAGGAGCCACTGTACCCAGCCTAGGATATGATATCACTTCTTAGAGCAAGATACAAAATTGCATGTGCACAATAATTCTACCAAGTATAGGTATACAGGGGTAGTTATATATAAATGAGACTTCAAGGAAATACAACAAAATGCAATCGTGATTGTGTTAGGGTGGTAAGAAAACGGTTTTTGCTTTGATGAGCTCTGTTTTTTAAAATCGTTATATTTTCTAATAAAAATACATAGTCTTTTGAAGGAACATAAAAGATTATGAAGAAATGAGTTAGATATTGATTCCTATTGAAGATTCAGACAAGTAAAATTAAGGGGAAAAAAAACGGGATGAACCAGAAGTCAGGCTGGAGTTCCAACCCCAGATCCGACAGCCCAGGCTGATGGGGCCTCCAGGGCAGTGGTTTCCACCCAGCATTCTCAAAAGAGCCACTGAGGTCTCAGTGCCATTTTCAAGATTTCGGAAGCGGCCTGGGCACGGCTGGTCCTTCACTGGGATCACCACTTGGCAATTATTTACACCTGAGACGAATAAAAACCAGAGTGCTGAGATTACAGGCATGGTGGCTTACGCTTGTAATCGGCTTTGGGAAGCCGAGGTGGGCTGATTGCTTGAGCCCAGGAGTTTCAAACTATCCTGGACAACATAGCATGACCTCGTCTCTACAAAAAATACAAAAAATTTGCCAGGTGTGGTGGCATGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAAGTAGGAGAATCCCCTGAGCCCTGGGAAGTCGAGGCTGCACTGAGCCGTGATGGTGTCACTGCACTCCAGCCTGGGTGACAAAGTGAGACCCTATCTCACAAAGAAAAAAAACAAAACAAAAAACCCAAAGCACACTGTTTCCACTGTTTCCAGAGTTCCTGAGAGGAAAGGTCACCGGGTGAGGAAGACGTTCTCACTGATCTGGCAGAGAAAATGTCCAGTTTTTCCAACTCCCTAAACCATGGTTTTCTATTTCATAGTTCTTAGGCAAATTGGTAAAAATCATTTCTCATCAAAACGCTGATATTTTCACACCTCCCTGGTGTCTGCAGAAAGAACCTTCCAGAAATGCAGTCGTGGGAGACCCATCCAGGCCACCCCTGCTTATGGAAGAGCTGAGAAAAAGCCCCACGGGAGCATTTGCTCAGCTTCCGTTACGCACCTAGTGGCATTGTGGGTGGGAGAGGGCTGGTGGGTGGATGGAAGGAGAAGGCACAGCCCCCCCTTGCAGGGACAGAGCCCTCGTACAGAAGGGACACCCCACATTTGTCTTCCCCACAAAGCGGCCTGTGTCCTGCCTACGGGGTCAGGGCTTCTCAAACCTGGCTGTGTGTCAGAATCACCAGGGGAACTTTTCAAAACTAGAGAGACTGAAGCCAGACTCCTAGATTCTAATTCTAGGTCAGGGCTAGGGGCTGAGATTGTAAAAATCCACAGGTGATTCTGATGCCCGGCAGGCTTGAGAACAGCCGCAGGGAGTTCTCTGGGAATGTGCCGGTGGGTCTAGCCAGGTGTGAGTGGAGATGCCGGGGAACTTCCTATTACTCACTCGTCAGTGTGGCCGAACACATTTTTCACTTGACCTCAGGCTGGTGAACGCTCCCCTCTGGGGTTCAGGCCTCACGATGCCATCCTTTTGTGAAGTGAGGACCTGCAATCCCAGCTTCGTAAAGCCCGCTGGAAATCACTCACACTTCTGGGATGCCTTCAGAGCAGCCCTCTATCCCTTCAGCTCCCCTGGGATGTGACTCAACCTCCCGTCACTCCCCAGACTGCCTCTGCCAAGTCCGAAAGTGGAGGCATCCTTGCGAGCAAGTAGGCGGGTCCAGGGTGGCGCATGTCACTCATCGAAAGTGGAGGCGTCCTTGCGAGCAAGCAGGCGGGTCCAGGGTGGCGTGTCACTCATCCTTTTTTCTGGCTACCAAAGGTGCAGATAATTAAGAAGAAGCTGGATCTTAGCAACGTCCAGTCCAAGTGTGGCTCAAAGGATAATATCAAACACGTCCCGGGAGGCGGCAGTGTGAGTACCTTCACACGTCCCATGCGCCGTGCTGTGGCTTGAATTATTAGGAAGTGGTGTGAGTGCGTACACTTGCGAGACACTGCATAGAATAAATCCTTCTTGGGCTCTCAGGATCTGGCTGCGACCTCTGGGTGAATGTAGCCCGGCTCCCCACATTCCCCCACACGGTCCACTGTTCCCAGAAGCCCCTTCCTCATATTCTAGGAGGGGGTGTCCCAGCATTTCTGGGTCCCCCAGCCTGCGCAGGCTGTGTGGACAGAATAGGGCAGATGACGGACCCTCTCTCCGGACCCTGCCTGGGAAGCTGAGAATACCCATCAAAGTCTCCTTCCACTCATGCCCAGCCCTGTCCCCAGGAGCCCCATAGCCCATTGGAAGTTGGGCTGAAGGTGGTGGCACCTGAGACTGGGCTGCCGCCTCCTCCCCCGACACCTGGGCAGGTTGACGTTGAGTGGCTCCACTGTGGACAGGTGACCCGTTTGTTCTGATGAGCGGACACCAAGGTCTTACTGTCCTGCTCAGCTGCTGCTCCTACACGTTCAAGGCAGGAGCCGATTCCTAAGCCTCCAGCTTATGCTTAGCCTGCGCCACCCTCTGGCAGAGACTCCAGATGCAAAGAGCCAAACCAAAGTGCGACAGGTCCCTCTGCCCAGCGTTGAGGTGTGGCAGAGAAATGCTGCTTTTGGCCCTTTTAGATTTGGCTGCCTCTTGCCAGGAGTGGTGGCTCGTGCCTGTAATTCCAGCACTTTGGGAGACTAAGGCGGGAGGTTCGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAATGAGACCCCTGTGTCTACAAAAAGAATTAAAATTAGCCAGGTGTGGTGGCACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCCTGAGTCCGGGAGGCGGAAGTTGCAAGGAGCCATGATCGCGCCACTGCACTTCAACCTAGGCAACAGAGTGAGACTTTGTCTCAAAAAACAATCATATAATAATTTTAAAATAAATAGATTTGGCTTCCTCTAAATGTCCCCGGGGACTCCGTGCATCTTCTGTGGAGTGTCTCCGTGAGATTCGGGACTCAGATCCTCAAGTGCAACTGACCCACCCGATAAGCTGAGGCTTCATCATCCCCTGGCCGGTCTATGTCGACTGGGCACCCGAGGCTCCTCTCCCACCAGCTCTCTTGGTCAGCTGAAAGCAAACTGTTAACACCCTGGGGAGCTGGACGTATGAGACCCTTGGGGTGGGAGGCGTTGATTTTTGAGAGCAATCACCTGGCCCTGGCTGGCAGTACCGGGACACTGCTGTGGCTCCGGGGTGGGCTGTCTCCAGAAAATGCCTGGCCTGAGGCAGCCACCCGCATCCAGCCCAGAGGGTTTATTCTTGCAATGTGCTGCTGCTTCCTGCCCTGAGCACCTGGATCCCGGCTTCTGCCCTGAGGCCCCTTGAGTCCCACAGGTAGCAAGCGCTTGCCCTGCGGCTGCTGCATGGGGCTAACTAACGCTTCCTCACCAGTGTCTGCTAAGTGTCTCCTCTGTCTCCCACGCCCTGCTCTCCTGTCCCCCCAGTTTGTCTGCTGTGAGGGGACAGAAGAGGTGTGTGCCGCCCCCACCCCTGCCCGGGCCCTTGTTCCTGGGATTGCTGTTTTCAGCTGTTTGAGCTTTGATCCTGGTTCTCTGGCTTCCTCAAAGTGAGCTCGGCCAGAGGAGGAAGGCCATGTGCTTTCTGGTTGAAGTCAAGTCTGGTGCCCTGGTGGAGGCTGTGCTGCTGAGGCGGAGCTGGGGAGAGAGTGCACACGGGCTGCGTGGCCAACCCCTCTGGGTAGCTGATGCCCAAAGACGCTGCAGTGCCCAGGACATCTGGGACCTCCCTGGGGCCCGCCCGTGTGTCCCGCGCTGTGTTCATCTGCGGGCTAGCCTGTGACCCGCGCTGTGCTCGTCTGCGGGCT
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Subsets and Splits
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