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_1900
|
Given this variant in gene NTRK1 (neurotrophic receptor tyrosine kinase 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Inborn genetic diseases
|
TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAA
|
TGGAGGGGGCTCTGTCTCCTTCGCTATCCCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAATGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAA
|
Task1_train_1901
|
Assess the clinical impact of this variant on gene NTRK1 (neurotrophic receptor tyrosine kinase 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Hereditary insensitivity to pain with anhidrosis
|
CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAAGTATTGCTGGAAAAGCTGGGCAGGTGAG
|
CCAGATGGAAACAGCACCTTCGGTTTTTGCCTCTTAGACCTGAGAGCCACCACTGTTTGTTTATTTATTTATTTAATTTATTTTTTTGAGACGGCGTCTCACTCTGTTGCTAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGACTCCCTGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCCACACGCCATCACGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGAGCTTGTGTATTTATTTTTAATGATGGGGCTGGGGTAGGCTGTGCCTTGACGGGCTGTCCCAGGCGCCCCTGGAATTGATGCAGTGTCCGCCCGTGGCAGGTGGGAGGCCGCACCATGCTGCCCATTCGCTGGATGCCGCCCGAGAGCATCCTGTACCGTAAGTTCACCACCGAGAGCGACGTGTGGAGCTTCGGCGTGGTGCTCTGGGAGATCTTCACCTACGGCAAGCAGCCCTGGTACCAGCTCTCCAACACGGAGGTCAGCCCCGGCCCATGGTCACCCCTTGCTGGCCTCCCCGTCCCATGCCCCTTCAGGTTCCTTTTTCAGGGAACTCGGTTCCCCTTCTGCCCCTCTGCCACAGCCTGTTGGGGGGCCCTTTCCAGCGCCGTGCCCACACTGTGTCCCCTCCACTGTGGCCCTTTTCTTCTCTTCCTCCCTTATTCTTGCCTTCACCTACTGTCCTAAGCCCAGGCCCAGTTGGCCCCTGGGGGAACCTCAAAGTGCTTTGTACAAGGAGCCCAGACCCCCATCCCTAGCTGCATTTTATAGACCTAAGCAGGAATTATCAGAGTGGAAGGGACCAGCACGGGAAGAGGAACCCAGCACAAGAAGGCCCAACACTGCAGCAGGACGGCTGGAGGTTAGACTGTCAGAAGGACAGTCCTACCCCCTCCCCCTGCCCTCCTAGCTGGCCACAGCCAGAGCAGGCCCCAGGTGTTCTGTCTCCCAGAGCAGCTGCCCCCACCCCCTGCTTGGCTCGCAGCTGTCAGTTTCCATTTCTCCTCCTAATGCAGTCTGCTCCCCGGAGGCTGGTGGGGTGGGGGAGAGGGTTATAGATTTTAATTTTCTCAAGCACTGAGAGAAGAAATGGAATTAGTGCCGCCCATAACCCAAGTCCTCTAATAGGGAGGGGGGAAGAAGGGGAAAAGAGGCTCCAGGCCCCTTCTCCAATCACTCCCTGCCACCCTTTCTCCTTTGGATTCCTTGGCTGCTTTAGCAGTTCTTCCTAGAGTCTAACTTTGATCTTTCTTGCTGCAGTTTCTTTTTGGGAGAGCTAGTCAGTCCCACAGAGTGGTATCCCTAGAAGGGAGAAGTAAGGATTGCCCTCTTCTTTAAAATGAAAGCCAGCTATTTTTCACGCCCTTTAACTGCAGTTCTGCTCTATTTTCTTTTCTCTCTCTGGAGCTGAGAGTCAGAGGGCCCTTCTCCTCCTCCTTTCAGCCCCCAACACTAAGCTGATGGATTGATAAATACCTCAGCCCCTCGCCTTCCTCAACCCACCTGGCAAGTCTTCTTAGGATCTGATCCCAGTTTTCTGGAAGCAATCCTACCCCAGCCCAAGCTTCCCATAGTCGAGCCTTAATCCTTCTCACTTCTCAGTGTCAGAGCAGAAATGAATCCTGGGGTTGACTGTGTCCATTCGGGTTATTAGCAGCTAAGAAGCCCAGACGAGTAGTGTGAGCTGCCTTGGGAGCCTCAGTGAGGGCACTGGGACTGGCCTCACTCTCTTGCCCCCAGCCTAGTGGGCTTTCTCCTCTGTCTCTCCGGTGGCCCCAGGCAATCGACTGCATCACGCAGGGACGTGAGTTGGAGCGGCCACGTGCCTGCCCACCAGAGGTCTACGCCATCATGCGGGGCTGCTGGCAGCGGGAGCCCCAGCAACGCCACAGCATCAAGGATGTGCACGCCCCGCTGCAAGCCCTGGCCCAGGCACCTCCTGTCTACCTGGATGTCCTGGGCTAGGGGGCCGGCCCAGGGGCTGGGAGTGGTTAGCCGGAATACTGGGGCCTGCCCTCAGCATCCCCCATAGCTCCCAGCAGCCCCAGGGTGATCTCAAAGTATCTAATTCACCCTCAGCATGTGGGAAGGGACAGGTGGGGGCTGGGAGTAGAGGATGTTCCTGCTTCTCTAGGCAAGGTCCCGTCATAGCAATTATATTTATTATCCCTTGGCTGTGTCTCTTGCCAGTTATTGGGATGACGTCGTTCCAGGAGGGAGGCATTGGGATTCAGGTAGGGGGACAGCTCTCTGGGATCTTCCCCCACTCAGGTTCCCCTCAGCTGCCTACCCCTACTCCATGGACCTGTCACTCTCACCTTTGACTATAGTTTGGATCCCATTCCCATGGTCACCTGGCTCACCTGCTGGTAAGGCAGCCTCTGGTCAAACTTCCTAGACCTTGAGAGCCTAACTGTCAATCTTTGTAGTTCATGTTCAGGAAGGCTGGGCTATAGTGGAAGGGGTGGAAGTTAGATGTACTGGTAGGATGGGAGCGTTGATGGGGTGTCTTCCTTGTATTGGTGTGTCCGGGACAGAGCAAGCACGCAGCAGCAGATGAGAGAGAAACATGTGTGTGTGTGTGTGGGGTGATGGGGGGCAGGAAAGGGACGGAGCTGGACTAAGGATTGATGGAGGCAGGACCCCTTGTTCCTGCCCCTCTGTTACTCTTCTTAGCTCTAGGTGCTTTGATTAGCATCTGGAGGCCAGGTACTGTGTAAAGAGGCTATTTCCTAAGGACAAAGCCATCTCCCTGTCCCATTCTGTCCAAGGGAGTAGGTGAGGTCTCCCCTGTCCTCTGTCCCTTGGAACATGACTGGCCTTAACTGAGTGGTCTGAGGCTCTGTCAGCAGCACTGAGACTGGGCCCCATCATGTCAGGGCACCTGGGCCCTGTCTTCACCTTCCCTAACCCAAAGGCTTGCATTCCACCCAGAGCCAGGGAGGAGCAGCTTCCCCGCCACCCTCAGCCCTATCACTTCCAATCACCTGTCCAGTTCCTGCAATAATGCAAGCTTCCCATGGCTCCTCAGGGCTAATCACATGGCTGTCTCATGTCCCTGGGTGCCAGTCCCACCCCACCCCCACTCCCATGATTCAATCTGTGTCTTATCGCCCCTAGGCCTAGCCCTGTGGTGTGTCTGCCTCTTGTCCAGGCTGGTTAGTGCTAATGGAGGACTGACCCAGGGCTGCAGGCTGATCGATGGGGGAATTGGGGTGTGTGTGTGTGGTTGGTCCCTAAGGGCCAAGTTCACAGGCCTTCCTCTCCTGCCGGGTATGGGTGGGGCTGGTGCCGCATCACCCCTATGAGGGAGGGCACTTAAAGCAGATGGAGCCATCGGGAGGAAAGGGCTTGGGAACATGGTGAGGGATGCAGAGTTGGGGGATCAGATCCAACAGGTGAGCCCAGGGACAGATGCAGAGGGAGAGACAGTGCAGAGAGAGAGACAGGGACAGGACATACAGACATAGTGACATAGAGAGAGACTGCAGAGGGAGATATAAAGACTGAGACATGCAGATAGAGAGAAAGATGGAGACAGACACACAGACATAGCCGGACACACATGGAGAGAGAGGGTGAGACCAGCGCTGCAAACAGACACAGGTACGGCAGTGGCTCAATCAGAGGAAGTCTGGGAGGACATCATGGACTCCCCAGGGGGCTTTCTACCTCACTCACCCCCTCACCTGTGCCCTTTGAGCCTCTCTGCAGGGGCTAGGAGAGGATGGGACACCCAGACGTGGAGGCTCTGTGGGTAGAGACAGGAGGGGACCTGAGGTTTGCCCCATAAAGAGCAGGATAGGGGCATCACTAAAGAGCTGGTTTGGAGGTCAGGTAGCACGAGGGAGCTGCCAGGGCATGTGAACCATTTTCAAGGTTATCAGGCCTCAGATGTGGGGACATCAGAGGCTCTTAAACCATAACCAGAAGTATTGCTGGAAAAGCTGGGCAGGTGAG
|
Task1_train_1902
|
A change on Chromosome 1 affects gene KIRREL1 (kirre like nephrin family adhesion molecule 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Nephrotic syndrome, type 23
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AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTACTGCAGTTTTTAACTGGTTCTGACTTGTGTCTTCTTGCTTGCAGGGCCCCCCATCATCTCCAGTGAGGCAGTGCAGTATGCTGTGAGGGGTGACGGTGGCAAGGTGGAGTGTTTCATTGGGAGCACACCACCCCCAGACCGCATAGTGAGTGGCGGACCTGCCTGCGGACAGCCAGCCCTCCCTGCTTCTTTGCCCAGGCCCAGCCTCCTCTCACTTCTGCTGGTTTTGCTCCTTCAACTTCCCTGTCCCGTTTCCATCCTCGAATCTTCTGCTTTCTGTCCCTCTGTCCCTTTACCTGCTCAAATCCCACCTCCTCCCTTACTTGTTATGTGTCCCTGAGCAGATCACTTAATGTTTTGAACCTCGGTTTATTCATCTATAAAACAGGGCCAGTAACTCCTACCTAATAGGGTTGCTGTGAGAAGTCATGGCAGCAACAGGTGTGAGATGCCTAGGCCAGCACTTGATTCATGTTAGTTCCCCACTCTCTCCCCTGGGCTAACACTTCCCCTCTTTTCTCCCTCATCTGCCTGTCATTGACCTCCTGCTCTTTTCTTTGCTCCCTCCCCTTCCCTGTCTCCTCCTCTGGCTCTTGCCATCTCTCTCCCTTCCCATCAGTTCTCCTACCTGCCTGGCCCACTCTTCTCTCCCTCCTCCTGCCTTCCTCCTACCAGCCCCTTGCCTTGCCACTCTCCTCCCTCCTTTCTCCTCTCCCCCACACCATGAGCCATTAATTCCTTCCGTGACTATTAACTGTCAAACCCCTCATCACATTTAATGACCATTTGGCTAACTCCAGGGCTGCCCAGGGACACTTCATTACCACGGCCGCCCGGGCAGCAGGCGGCTGGCCTCCCGGGGGGCTTTCCTTGCAGATCTAGGAGGATTGATCCCTGGAAAGGAGCCAGTTCTCGGCTGCTCCCCCTCCCTTAGGCTCCACTCTGAGGAAGGGGCCACTCAGGGGAATGGTCCGGCTGAGAAGTCAGGGATGGAGGGGTCCAGGAATACCCCGTTGTGGGTTCTGCCTATTATAAGTCTGTGGATCAGTCTCAGAGCCAGCCAGGCAGGTCGTGTGGGTTGGTTAAAGGTACGCCTAAAGATTGAGTTATGCTTAGTTAGAATCACAGACTATCAGAGCTGGAAGAAATCTTGAGCATTGTCTAGCCCTAGCCTGGTTCTGTCATTGTATAGATGAAGAAAATAAGGCCTAGAAAGGGACAGGGAGGCCACACAGGGGCTTGATGGGGAGAGGAGCCCAGCGTTCTTGAGGACAAATGCAGAACTTTTTCTACAACATCTGGGAGGATTCCCAGTGTCGGTTCAATGGATCCGCTGCATCCACATCACATGGGATCATGATGAAAATAGAGATTCTCCTCCTCCCTGGAGATTCCTATTTAGGACATAAGTCCCAAATATCTACATTTGAAAGAATCTCCCTAGGTAAATCTGATGTCAGCCATGCTTGGGAGCCACTGCTTCTCCTTGAGTGGAGTGTCAGTGCCGAGGGTGTGAGGTAGCAGGTGTGACTTAGGTTTGTTACAGGGAGGTGTTAGGCTGGGCTTGTGGGGCACACATGGCACATAGGGGTGAGGGTGCCTTGAGGGTGGATCAGGGGACACGTGGGCATGGGCTTCTGCCCCCTGCCCCTTTCTTACCTTCTTCCTTCCCTCTCCACCACAGGCATGGGCCTGGAAGGAGAACTTCTTGGAGGTGGGGACCCTGGAACGCTATACAGTGGAGAGGACCAACTCAGGCAGTGGGGTGCTATCCACGCTCACCATCAACAATGTCATGGAGGCCGACTTTCAGACTCACTACAACTGCACCGCCTGGAACAGCTTCGGGCCAGGCACAGCCATCATCCAGCTGGAAGAGCGAGGTGACTGGTAGTGCTGCCTGCCAGCTGGGGTGCAGAGCAGCCTGAGGATTCTGCTCCTTCTTTTCTCCAGGGGCAGGGCTCAGCTGCTCCCCTTCCCTTGGGCTCTGCTCTGAGGGAGGGGACACACAGAGGGATGTCCTGGCTGAGAGGTCAGGAGTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGA
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AAAATGGACTCGGGAACCCCATTTCCCTTCTGGGAATTCACTTGTGGCCCTTCCTGCTTTCTTTCCGATGCCTCCGATGTGGGGCCCTCATGGACCTAGGGGCCCAGGCCTCCTGGCTCCCCACCCGAGGCTGCTCTCTCTGCCCAGGTCCTGAGTAACAGCAACCAGCTGCTGCTGAAGTCGGTGACTCAGGCAGACGCTGGCACCTACACCTGCCGGGCCATCGTGCCTCGAATCGGAGTGGCTGAGCGGGAGGTGCCGCTCTATGTGAACGGTGAGTGAGTGGCCTGAGAGGCAGCCGGGCCTGGGCGGGCTGGTACTGCAGTTTTTAACTGGTTCTGACTTGTGTCTTCTTGCTTGCAGGGCCCCCCATCATCTCCAGTGAGGCAGTGCAGTATGCTGTGAGGGGTGACGGTGGCAAGGTGGAGTGTTTCATTGGGAGCACACCACCCCCAGACCGCATAGTGAGTGGCGGACCTGCCTGCGGACAGCCAGCCCTCCCTGCTTCTTTGCCCAGGCCCAGCCTCCTCTCACTTCTGCTGGTTTTGCTCCTTCAACTTCCCTGTCCCGTTTCCATCCTCGAATCTTCTGCTTTCTGTCCCTCTGTCCCTTTACCTGCTCAAATCCCACCTCCTCCCTTACTTGTTATGTGTCCCTGAGCAGATCACTTAATGTTTTGAACCTCGGTTTATTCATCTATAAAACAGGGCCAGTAACTCCTACCTAATAGGGTTGCTGTGAGAAGTCATGGCAGCAACAGGTGTGAGATGCCTAGGCCAGCACTTGATTCATGTTAGTTCCCCACTCTCTCCCCTGGGCTAACACTTCCCCTCTTTTCTCCCTCATCTGCCTGTCATTGACCTCCTGCTCTTTTCTTTGCTCCCTCCCCTTCCCTGTCTCCTCCTCTGGCTCTTGCCATCTCTCTCCCTTCCCATCAGTTCTCCTACCTGCCTGGCCCACTCTTCTCTCCCTCCTCCTGCCTTCCTCCTACCAGCCCCTTGCCTTGCCACTCTCCTCCCTCCTTTCTCCTCTCCCCCACACCATGAGCCATTAATTCCTTCCGTGACTATTAACTGTCAAACCCCTCATCACATTTAATGACCATTTGGCTAACTCCAGGGCTGCCCAGGGACACTTCATTACCACGGCCGCCCGGGCAGCAGGCGGCTGGCCTCCCGGGGGGCTTTCCTTGCAGATCTAGGAGGATTGATCCCTGGAAAGGAGCCAGTTCTCGGCTGCTCCCCCTCCCTTAGGCTCCACTCTGAGGAAGGGGCCACTCAGGGGAATGGTCCGGCTGAGAAGTCAGGGATGGAGGGGTCCAGGAATACCCCGTTGTGGGTTCTGCCTATTATAAGTCTGTGGATCAGTCTCAGAGCCAGCCAGGCAGGTCGTGTGGGTTGGTTAAAGGTACGCCTAAAGATTGAGTTATGCTTAGTTAGAATCACAGACTATCAGAGCTGGAAGAAATCTTGAGCATTGTCTAGCCCTAGCCTGGTTCTGTCATTGTATAGATGAAGAAAATAAGGCCTAGAAAGGGACAGGGAGGCCACACAGGGGCTTGATGGGGAGAGGAGCCCAGCGTTCTTGAGGACAAATGCAGAACTTTTTCTACAACATCTGGGAGGATTCCCAGTGTCGGTTCAATGGATCCGCTGCATCCACATCACATGGGATCATGATGAAAATAGAGATTCTCCTCCTCCCTGGAGATTCCTATTTAGGACATAAGTCCCAAATATCTACATTTGAAAGAATCTCCCTAGGTAAATCTGATGTCAGCCATGCTTGGGAGCCACTGCTTCTCCTTGAGTGGAGTGTCAGTGCCGAGGGTGTGAGGTAGCAGGTGTGACTTAGGTTTGTTACAGGGAGGTGTTAGGCTGGGCTTGTGGGGCACACATGGCACATAGGGGTGAGGGTGCCTTGAGGGTGGATCAGGGGACACGTGGGCATGGGCTTCTGCCCCCTGCCCCTTTCTTACCTTCTTCCTTCCCTCTCCACCACAGGCATGGGCCTGGAAGGAGAACTTCTTGGAGGTGGGGACCCTGGAATGCTATACAGTGGAGAGGACCAACTCAGGCAGTGGGGTGCTATCCACGCTCACCATCAACAATGTCATGGAGGCCGACTTTCAGACTCACTACAACTGCACCGCCTGGAACAGCTTCGGGCCAGGCACAGCCATCATCCAGCTGGAAGAGCGAGGTGACTGGTAGTGCTGCCTGCCAGCTGGGGTGCAGAGCAGCCTGAGGATTCTGCTCCTTCTTTTCTCCAGGGGCAGGGCTCAGCTGCTCCCCTTCCCTTGGGCTCTGCTCTGAGGGAGGGGACACACAGAGGGATGTCCTGGCTGAGAGGTCAGGAGTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGA
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Task1_train_1903
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This genomic variant is located on Chromosome 1, within the KIRREL1, LOC126805884 (kirre like nephrin family adhesion molecule 1| BRD4-independent group 4 enhancer GRCh37_chr1:158063276-158064475) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Nephrotic syndrome, type 23
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GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGAGTATGGGCCCTGTGCAGCCCACAGCCTTCCCCTGGCTCTTCCAGGGCCATGACAGGCAGTGCTTGGGGTGGATGGGAGGTTGGCCCTTGAGCTCCAGCCCAGAGGGAGCCAGAAGCAGCCGCTGCAGAGACCAGCAGGAAGCACTTGTTCCAGGCTGCCTCTCCCGTCCCAGGTCGCAAAGACGTGACCCTGAGGAAGCTGGATATCAAGGTGGAGACAGTGAACCGAGAGCCACTTACGATGCATTCTGACCGGGAGGATGACACCGCCAGCGTCTCCACAGCAACCCGGGTCATGAAGGCCATCTACTCGGTGAGGGTCCTGCTCCTCTCTGGCCTCCTGCCTTCTCCACCCTCTGAGGACCAGCTCCATCCCAGATCTCTAATAACCGCGGTCATTCTCTCCTTCCTCAGTCGGTCTTCCCTGGTCCTGCCACACACACTCTCCCACACTCACACACATTCTCTCACACACGCCCCAGGCTAGTTTCCTCCAGCAGAGGATAGGCAGCTGGGATTGTCCAAAGACTTCCTTTGCCCCACAGTGTGTGAAAGTTGGAAGCCCCCAGAGGCTTTCTGGTCCATCTGCCTCATTGCTGAGATGAGGAAACAGCCCTGGAGAGGGGCAGTGACATATACAAGGTCACATTACATGTTAGCAACCAAACTAGTGCTCGAACCAAGGTCTCTGGCCTCTTCCCACCACATCCCAGAGCCTCTGCTGAGAGGACCAGAACTCAAGTCTGCCCTTGACCTCAGACCCCACCCATGAGCAGGTGGCCTCTGAGCGTGGGGAGGGGTTGGTGAGGGGCGAAAAGAGCAGGGCTTCCGTCTGCTGACGTCCCACTCCTGCTGCTCCACAGTCGTTTAAGGATGATGTGGATCTGAAGCAGGACCTGCGCTGCGACACCATCGACACCCGGGAGGAGTATGAGATGAAGGTGGGAAAGGGGGAAGGGGCCAGGGCATGAGGGCTGGTGGGCCAGTGGGTTTCTGAGGTCCTGTAGCGGGGAGGTGAGGTGAGGACAGACTTGGGGAGGAGTGGTTGGGAGGGTTTTTGAAGGAGCAGAGGAGGTGGAATGCTAGATGGGGACATAGGGAGAGCTGGAGGAAGAGGCCCAGAAAGCCATGGTGAGACTTGATCCCCACCCAAGAGGGAACACTGCCTCCATCCTCTTCTCTCATTGCCCCCAGGACCCCACCAATGGCTACTACAACGTGCGTGCCCATGAAGACCGCCCGTCTTCCAGGGCAGTGCTCTATGCTGACTACCGTGCCCCTGGCCCTGCCCGCTTCGACGGCCGCCCCTCATCCCGTCTCTCCCACTCCAGCGGCTATGCCCAGCTCAACACCTATAGCCGGGGCCCTGCCTCTGACTATGGCCCTGAGCCCACACCCCCTGGCCCTGCTGCCCCAGCTGGCACTGACACAACCAGCCAGCTGTCCTACGAGAACTATGAGAAGTTCAACTCCCATCCCTTCCCTGGGGCAGCTGGGTACCCCACCTACCGACTGGGCTACCCCCAGGCCCCACCCTCTGGCCTGGAGCGGACCCCATATGAGGCGTATGACCCCATTGGCAAGTACGCCACAGCCACTCGATTCTCCTACACCTCCCAGCACTCGGACTACGGCCAGCGATTCCAGCAGCGCATGCAGACTCACGTGTAGGGGCCAGAGCCTGGCTGGGGCATCTCTGCGGGGCAGAGGAGAAGGCTTTCACAGCTGTTCCCTGATATTCAGGGGCATTGCTCATTGCTCCCTTCTCGGACCAGCCTTCTTCCTCCCACCATGGCAGGTGGGGAGCAGGTCTCCCAGAAACACCCCGTCCCGAGGATGGTGCTCTGTGCATGCCCCAGCCTCCTGGGCCTGCCCTTCCCTCTTCTTCGGGAGGATGTGTCTCTTCTGACCTGCACTCTTGCCTGACCCTAGAATGGGGACAGGGAAAGTGAAGGTTAGGGAAAGCAGAGGGGGGCACTTTTTAGCATTCCCTTTCTATCCCACCCCTCTGATCTCCCATAAGTGGAAATGGGGGTACCCAGGGATGGGCAGGCTTTGGCCTAGGGACATGAAGTATGGGAGTGGGTGGCTGTGGCACAGACAGGTGGAAAACGGGATAGCCTGGCCAGTCCCTCTGTTGTCTGCATTCGTGCCCTGGGTGCCTCTCTCCTTCCTCAGGGTACTGCAGAAGGGAGCGAACAGGGTACTGTTCGCTCTTGTCTACAGAACAGCCCTGGCACTGCATTCAAATCCAGTCTTCATTCAGCTGGGATCAAAATGCCAGTCACCTTGGCTACCCACTGTGGACAGCTGTCTGTCAGCATGCAGAGGGATCCAGGAATCCCCCCGGCAGCACGGC
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GTGAAGGGGTTTGGGGCTACTCCCCTCTGATTCCTGCCTATTGTAAGAGTCTGTGCATCAGAGGGAAAGAACTCTCTGGGGCCTTCCCTCCAGAACCTGGCCTCCATGCTCAACTGGGGAAATGCCCTCACTTCGTTAAAGTGTACTGAGCATTTGCTATGTGCCAGGCTCTGCCCCAGGGGCTGCAGAAAGAGCTGTGAACAAGACACAGTCCCTGACCTCAAGAAACTTTCGGTGTAGTGGAGGAGGGACTTACAGAGTGGTAGTAAATTAATTCGGATGGAGAAGAATCATATGAACTGCAAAAGGGAATAACACGCCCATCTCATTGGGTGGACGTGAGGATTAAATTAGAGAATATTTACAAAATGCCTGGCATACAATAGGTGTTCAGTAAGTATGGGTTCCCCTACCTCTTCAAGAATTGTCACTCTGATAGCAGAAAAGTGTTCTCTCCTTTAAGGCACTTCTCACATGATAAAAGAGGTATTCCTTTGACTTTTTTGGAAGCTACCAAGTCCAAGGAGGAAAAGATAGCATTTTTTTGTTGTTGTTTTATTTTTTGAGAACTAACCATTTGACATAGGAGATGGAGAACCACATGGAAAATGACAGCATCCCATCACTTCAGTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCATTGCAACCTGTGCCTTCCGGGTTCAAATGAGTCTCCTACCTCAACCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACGGGTTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTCATGATTCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCTATCACTTCAGTCTTAACTAAGGATGCCAGCAAGGGGGTTGGGGGTGGGGAAGAATGGAGTAGATACAGTAACGTGGGGCTCCACAGGGAAAGATCTCAGAGGGGAAGAGCTATAAGCAGGATCTGGATTCAACTAGGGCTGCTAGGAAGACAGAGAAGGCTGGAAGCAGGATTCCTGAGCTCTTCCTCAGCTCTGGGAAGCAGAGGAAACCAAGGAAAACTGTTGGAGCCCTGAGTAGATAGGTGAACATTCGGCAGTCACAGTGGTATTATGGATGGCACAGTGGTGAAAGATGTCGGAACACGGGTGGCAGATTGGAGAGTTTGGAGACAGCTGACCTCAAAGAAGAGCGAGGGGCCAAGCATCATAGTCAGGTGGGCTGAAGGACAGGGATCGACAGACAACCAAGACCAGGGGCAAACTCCTGCCCCAGCTGCAGGGATGAGACATGACCATGATCTCCATTCTGATGGAGCTGGAGCACAGACCAAAATCCAACCACAATGCAGACCTTCCTCTCTAATCCAACCTTGACTTAAACCTAACACTGTCCCCAGGCTCAGTCAAAACTTAGCCCTGTACACAAGCCAAGGTTGCCTCTGTGGCTGTGGCCTAGCCTTTAGCCAGCACTGAGCTTAGCTCCCAGTATAACTCCAGCCTCACCCCTCCACCTTTCCTTCCCCATCGAAAGAGGTGTTACCTGTGGGCATCATAGCTGGGGCCACCATCGGCGCGAGCATCCTGCTCATCTTCTTCTTCATCGCCTTGGTATTCTTCCTCTACCGGCGCCGCAAAGGCAGTGAGTATGGGCCCTGTGCAGCCCACAGCCTTCCCCTGGCTCTTCCAGGGCCATGACAGGCAGTGCTTGGGGTGGATGGGAGGTTGGCCCTTGAGCTCCAGCCCAGAGGGAGCCAGAAGCAGCCGCTGCAGAGACCAGCAGGAAGCACTTGTTCCAGGCTGCCTCTCCCGTCCCAGGTCGCAAAGACGTGACCCTGAGGAAGCTGGATATCAAGGTGGAGACAGTGAACCGAGAGCCACTTACGATGCATTCTGACCGGGAGGATGACACCGCCAGCGTCTCCACAGCAACCCGGGTCATGAAGGCCATCTACTTGGTGAGGGTCCTGCTCCTCTCTGGCCTCCTGCCTTCTCCACCCTCTGAGGACCAGCTCCATCCCAGATCTCTAATAACCGCGGTCATTCTCTCCTTCCTCAGTCGGTCTTCCCTGGTCCTGCCACACACACTCTCCCACACTCACACACATTCTCTCACACACGCCCCAGGCTAGTTTCCTCCAGCAGAGGATAGGCAGCTGGGATTGTCCAAAGACTTCCTTTGCCCCACAGTGTGTGAAAGTTGGAAGCCCCCAGAGGCTTTCTGGTCCATCTGCCTCATTGCTGAGATGAGGAAACAGCCCTGGAGAGGGGCAGTGACATATACAAGGTCACATTACATGTTAGCAACCAAACTAGTGCTCGAACCAAGGTCTCTGGCCTCTTCCCACCACATCCCAGAGCCTCTGCTGAGAGGACCAGAACTCAAGTCTGCCCTTGACCTCAGACCCCACCCATGAGCAGGTGGCCTCTGAGCGTGGGGAGGGGTTGGTGAGGGGCGAAAAGAGCAGGGCTTCCGTCTGCTGACGTCCCACTCCTGCTGCTCCACAGTCGTTTAAGGATGATGTGGATCTGAAGCAGGACCTGCGCTGCGACACCATCGACACCCGGGAGGAGTATGAGATGAAGGTGGGAAAGGGGGAAGGGGCCAGGGCATGAGGGCTGGTGGGCCAGTGGGTTTCTGAGGTCCTGTAGCGGGGAGGTGAGGTGAGGACAGACTTGGGGAGGAGTGGTTGGGAGGGTTTTTGAAGGAGCAGAGGAGGTGGAATGCTAGATGGGGACATAGGGAGAGCTGGAGGAAGAGGCCCAGAAAGCCATGGTGAGACTTGATCCCCACCCAAGAGGGAACACTGCCTCCATCCTCTTCTCTCATTGCCCCCAGGACCCCACCAATGGCTACTACAACGTGCGTGCCCATGAAGACCGCCCGTCTTCCAGGGCAGTGCTCTATGCTGACTACCGTGCCCCTGGCCCTGCCCGCTTCGACGGCCGCCCCTCATCCCGTCTCTCCCACTCCAGCGGCTATGCCCAGCTCAACACCTATAGCCGGGGCCCTGCCTCTGACTATGGCCCTGAGCCCACACCCCCTGGCCCTGCTGCCCCAGCTGGCACTGACACAACCAGCCAGCTGTCCTACGAGAACTATGAGAAGTTCAACTCCCATCCCTTCCCTGGGGCAGCTGGGTACCCCACCTACCGACTGGGCTACCCCCAGGCCCCACCCTCTGGCCTGGAGCGGACCCCATATGAGGCGTATGACCCCATTGGCAAGTACGCCACAGCCACTCGATTCTCCTACACCTCCCAGCACTCGGACTACGGCCAGCGATTCCAGCAGCGCATGCAGACTCACGTGTAGGGGCCAGAGCCTGGCTGGGGCATCTCTGCGGGGCAGAGGAGAAGGCTTTCACAGCTGTTCCCTGATATTCAGGGGCATTGCTCATTGCTCCCTTCTCGGACCAGCCTTCTTCCTCCCACCATGGCAGGTGGGGAGCAGGTCTCCCAGAAACACCCCGTCCCGAGGATGGTGCTCTGTGCATGCCCCAGCCTCCTGGGCCTGCCCTTCCCTCTTCTTCGGGAGGATGTGTCTCTTCTGACCTGCACTCTTGCCTGACCCTAGAATGGGGACAGGGAAAGTGAAGGTTAGGGAAAGCAGAGGGGGGCACTTTTTAGCATTCCCTTTCTATCCCACCCCTCTGATCTCCCATAAGTGGAAATGGGGGTACCCAGGGATGGGCAGGCTTTGGCCTAGGGACATGAAGTATGGGAGTGGGTGGCTGTGGCACAGACAGGTGGAAAACGGGATAGCCTGGCCAGTCCCTCTGTTGTCTGCATTCGTGCCCTGGGTGCCTCTCTCCTTCCTCAGGGTACTGCAGAAGGGAGCGAACAGGGTACTGTTCGCTCTTGTCTACAGAACAGCCCTGGCACTGCATTCAAATCCAGTCTTCATTCAGCTGGGATCAAAATGCCAGTCACCTTGGCTACCCACTGTGGACAGCTGTCTGTCAGCATGCAGAGGGATCCAGGAATCCCCCCGGCAGCACGGC
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Task1_train_1904
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Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Elliptocytosis 2
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CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
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CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCACTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
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Task1_train_1905
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With a mutation on Chromosome 1 in gene SPTA1 (spectrin alpha, erythrocytic 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Pyropoikilocytosis, hereditary
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CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
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CTCTTCACCCCAAGAAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCACTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAG
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Task1_train_1906
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Gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Elliptocytosis 2
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AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATG
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AAACACGAAGATATCCCATCATTTTTTATGCCTCAACCCCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCACTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATG
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Task1_train_1907
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A variant was discovered on Chromosome 1, affecting SPTA1 (spectrin alpha, erythrocytic 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; not provided
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CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATG
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CCAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGAAGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATG
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Task1_train_1908
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The gene SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; SPTA1-related disorder
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CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
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CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACACCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
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Task1_train_1909
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Here is a genetic alteration in SPTA1 (spectrin alpha, erythrocytic 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; not provided
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CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACGCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
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CAGGGGAAGATAAGAGGCAGGAGTCCTGGGTATAAGCCAGCCACTCAAGGTTTATATCTCATATAATCAGTTAAAACCCTGATAACATAATCAATAATTGGAAACTTCTTCAAGGGCCCATACATATACCTTCGTTTCTTCGTGGGCAGAATGACCCATGGTAAATCGTTCTTCCCTTGTTTTTTCCAGTTCAGACATGAGTCTTGATTTTGTTTGCACCTCTGCTTCAAGGGATTGATGCTTCTGATATTTCCCCTAAAGTTTAGAAATCAGAGTTTTTGTCTAATGAAGCACAGTCTTCATGGGAAATGTTCACTCTATGTAAAGCCACCAAACACAGGTTCTCAAAGGGTCCCAGACTCAGAGGCCATAAAGAGTATTTTCCTGTCCCCACTGGCTTTAGGAAGTTTTCAGTAAATACTGTCCTGAGCTATGCTGAGCCTTATGATCTATGCCGAGCCTTATTTTAAAGGCTCAATAGACTGCCATAGGAATAAAAGAGTGTAACACACAGTGTCCTTCCTCATCAGAAAAGAGGAATAACTGATTTTTTTTTGGAAGTAGAGCACAATGAGAAAGATGATAGTTATAATAATGGTTTTTAAAAAAAAAAATTGAGAGTTTTTTTTGCATGCTGTGCCTGTTCTTGTAATCTATAAATTGATCCATTCAATATAGCACATTATTTTGCTCTTGTTCTAGGTGTTTCCTGTCCAACATCAATTGCTTCTGATTATGACAACACCACATGCTATAATTTTAGGTGAATAGAAAGGGGTAGGCACTTTCACCAAATTTCTTCTACTGAAACCTCTCTTTTGAAGTTAAGAGCCATGAATAGCAATTTAGGGAAGAAAAAAAAAAAACTCTGGTTAACTCATCTCTCTGAGAAGAGTAGAGAACAGGTATCACATGCTATAATTTTAGGTGATCAGAAACGCGTAGGAGCTTTCACCAAACTTCTACTGAAACCTCTCATTAGAACTTGAGACCCATGAACAACATTTTAGGAAAAACTTAAGAGCCATGAATAGCAATTGAGTTAACCAGGTTAACTAAATTGGATTTTAGTTAACCTGGTTAACTCTTATATTTCTGAGAAGAGTGGAGGACAGTTGCTTCAGAAGCATTGATGACTCTTCACCCTATTTCCCTTCTTAATGTCCCAAAATATCAAAAATCACATGGTTTGTCAGAAATTTCTTGAATTTGCAGTTGCTGTTTTGCCTGTAGGTCAATTTCAGATGAGTATTGTAACCATCAAATTCTATACAGAATAAATCTCCTTTGCAAATAACACCCCGATGTTTATGAAGATGAAGACATGGACTATTTAGAGGCAGAATTACTGTTTCTAACAGACAGTCTAATTTTTCCATTACATCACTCCCACTACAATTAACCAGATATACACTTACATTACCATAATATTTGTGCTGGATCTGAAAAAAAATTGATGTAATTTTTTACTTTTGGCATTGATGAATGCTTCACCATGAAAATATGTAAAGTATCCTATGCCCTTATCAATAAGCAATATCCTTGGTTAATGATTAAAAAATGTATATTCTGAATGGAAGTTCATTGTAAAAAACAGTTCTGTGCTTTCAACAACTGAAAAACTGCTGCTTTTTGTTTGATTCTTATTTTCTCAGTCTCACCTCTCCAACTTCATAAGGGAAAATGCACTTTTAGATTTTCTATTAATTTATTTCTTTAACTTCCCACTCCACTGACTTATTTTTGTTTCTAAACGGAATCTAATTGTACCCACACATACCCATTAACATTAACATAAAGAAAAACCTATTTCCTTCTCTAGAGATCTTAGGGTCTGCTCTGAGGCAATCAAGAGAACTGAGTGACCTGTATATTAGTTGGGTCTTCATAGCTCTTATCGGTTAAGATATTGACTTTCTCCATGATCCACTTCCCCAGATCATCTGCATCTCGCTTGAAAACTTGTAAGTGATAGGAATCCTCAAGCTTCTGACCCCTCTCAGCGACCCGCTCCTTGAAACTTTGATACCGAGTCAACACTTCCTGACTCCTCTCCTGGATCTCTTCTGCTGTTTCCAAAACCTTTGGCCCACTGCTCTCCACAACCTGCAAGTTAAAAAGATTCTGTTACTTGCTAGTTCTCAAATATTTAACATGTTGCCCCGCTTATATGTGTCAAGGTGTTTACTCATGTTGGACCTATATTCAGATATCCTGAAGTTTCTAGGGACTATTGTCAGAAGAGCTGTAGTATATTTACGTAATTTTTAACCAGACATAGCTTCTGTTTAGGTTAAAAATTCTTGATTATCCAGAAGACTCTCCTCACTTTTTACATAAATTTGTGCTAGCATTTAAGTTCTATAGATATAATTATATTGGACTGATCATGGAGCAAGTTTAAATCAGCAAAATCACATAATTTCAGATAGATAAAAAGAAATATAATGTTATTGCTTTCAAGGGCTAAAAAGGTGTTGAGAAGTGCTTATTATTTTTAACTTAATTTAATAAATAATTAAGAATGGCTTGCAATTAATTTAGTTAATGATATATGCAACAGTTTGAAAATTTTGTTTCCTTCATACTTAAAAATAAATCTCATATATTTACTCTTTACTTGCTTTACTCACAAACACTATAAATCAAAAGTTCAGCTATCTTCTGCCCAATTGTCACAAATTTCAAATTATTAGCATGTCTGCAATTTATTTTTGAAATATAAAAACTTTTACTCTAAAACAATATATAAGTATCCTTTTCCCAGAGTGGGAGCCAACCTGTTTGTGACAATATCCAGCAAAATCACCATAGGGTTCACCTTCATTCTTCTGGATATGGATACCATTTTCCCTAGCTTACCTCAGCCAAAATGTTTAATATAGAGTTTAAATTTTAATCTCCCATTATTCCTCCTAAGTATAATTGCTACTCTGTGAATTGCCATTACTGGCATGGCTATAGAATTAGATCATTACATGGAGACTCACGTTGTTACTAGGTGTTATTTAGCTTCAATCTCCCTACTTATTCTCTCTGGGAACCGACTTAAGTCATTACTGGGTCTTGGTGCTGCACAGACATAAGCTCAAGGTTATTGTTCACAAAAAATAGTTAAAAGTAAAATTATCTATTTGTTAAAAGCCAAATAATTATTAATGTTCCTGGGAAAGATAGTATAGAAAGTTTAAAGGAAACATCTTTCCTAATAATATTAATGACAAATTGCATGGAAGAGAAATATGTACTTACGGTTTCCTTTGGAAATTGCTCCATTTTTCCTAAAGGTTTAGAACCTGGCAAGATAAAATGTGTCAGAGAGAGAGAGAGAGAGAAATAATTCAAATGGAACTGTCCAGTCGAATTCAAATAGAAATATAGAAACGTTAAGTATGTGGGGGAAAAAAAAAAACCTCTTGCTTGGTCCTAGAATCCCATCAGCCATACACAATCGACATTATCTTTAGAAGACATACTCAGCTGAGGCAACTGCTAAGTTTTACAGATACTGGGTGACTCAGCAGTTTTGGGAGGCTCTGGCTTTCAAAGTTACTCAATAAGACTTAAAAAATGAAAGTAAGGTTTTTGGATGAAAAATTAGAAAAAAAACCCCATATATTTATAGGAAATACAGCTCAACAACTTCATCCAACTCAACTGCAGATTTTTCACAGTCTTTAAGTCAACGAATTATCCTGGCTTTTTCTAGAGAGTCTTTCACAAAATAAGATTTTATTCCTAACCTCAACAATTTGGTCTTTAAAAATCTGATTTAGTTGTACTCTTAATCATTTAAATGGAAGGAACAAAAAAAGTTATATGATGTGTTCATTAATATTTTGTAAAACAAAAATTAGGATACCTTATTTGACAAACCAATGATGTCACAAAAAAGTTGAAAATATGGCTGACTTCTGATATATATGGTATAAATCATCCTACTGTATGTATTAATTTTAATGGAGAACAAAAAGAGGTAGACTTTTTCCATAGGCATAGTTATTTTAGACTAACTTACAAAAATGAAACAAACAAGCAAAAAGAAAATAGTGGGATGCTCTTAGACCTTTCTACAAGCCAGTGGGGCTATCCATGC
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Task1_train_1910
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A variant affecting Chromosome 1, within the gene CADM3 (cell adhesion molecule 3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Charcot-Marie-Tooth disease, axonal, type 2FF
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TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCTGTGTATTCAAAGTAAGTAAAACTAAGATCTGTCTTTCCCTCCACCGCCACCACCACCTCTTTTCCTTCCCCCATGAAACCTTACGGGTACACAGAGACCTTGTGTACACAAGGGCCTTGGATGGTCTGAACTAGATGAGGTGTACTTTGGCTCAGAAATGGGAGGAGGGGCTAGGGGTCCTCAGGAAACTAACACTCTTCTACTCCTGCAGACAGCCAGCCCTGGACATCTGATGAAACAGTGGTGGCTGGTGGCACCGTGGTGCTCAAGTGCCAAGTGAAAGATCACGAGGACTCATCCCTGCAATGGTCTAACCCTGCTCAGCAGACTCTCTACTTTGGGGAGAAGAGAGGTAGTATCTCATGAGTTATCTTTCTCCGTGAAAACCATGGGCTAGAGAAGGGGACTGCAGACACCGAGGGGAACTGTTCCTGTCATCCAGAGGCTGAGAAACATGGTGGTCTGCTGTTTGAGGATGTAACAAGCCATGAGTTCCCCAACTGGTTCCAGTATTGCAGCTCTGATTTACAGCATGCATAATCTTACAGGGTTCTGGAGTGACTTCACCCCACAGGAGGAACTCTAACAGGAAGCTGAAGTCAGTGTTGCCCTAGGTATCTGACAATGAAGCTCACGAAATCCAAACTATTTTCTGAGTAGCTCTTAGGCTACTATGTCTAATGACCCAGAAAAGTGATTGAATAACTTAAAGACTGCTTAAACTCAGGAGCAGTTATTTTTTCCCCACCCACCATACTAGACCCCTTCCCCCAAAGAAGCTGGCCTGGGATTGGAAGGTAAACATGAAAGGTGCCAGTAAAATCCTAGCTTTCCATTCTCTTGATTTCCCCAGCCCTTCGAGATAATCGAATTCAGCTGGTTACCTCTACGCCCCACGAGCTCAGCATCAGCATCAGCAATGTGGCCCTGGCAGACGAGGGCGAGTACACCTGCTCAATCTTCACTATGCCTGTGCGAACTGCCAAGTCCCTCGTCACTGTGCTAGGTGAGACTCCCAAACCCCAGTGTCTCTACAGCATGCTTCCTTGCAAACAAACCTCCCTAGATGGGTCCCTGAAGCAGCTGGGAGCCAGGCAAGTCTCCAAGCACTTTAGGAAAGTTCAGCCTGTGTTCCCCTGGCAATGGGATAAAATGTAAAAAGAAATGGGTTTTAATCCTTTGTGCTCTACTTGCTGTTTGATCTAGGACAAGGTTCTTACTCTCTTTGAGTCTGAATTTTCTCTTATAACAGAGAGATGATCATACCCCTTCTACTTACCTCCCAAGATGGTGTGAGGAAAACACAAGACATGCATGTGTTATAATTTCCAAAATAAGTACCCCAGTTGCTTACATGCTCTCATCTTCATCCTATATTTCATCCTATATTTCAACTTCCTTCTTTGCGTCTCTGAGACTCACACTATTTCTGTGGCCACCCAATTGTGCTGTAAGTGGAGGGTCATATATCATGCCTGTGCTATGGCATTGCTCCTCACTGCCATGCTGTCTCCCGCAGGCCTTCCTTTCTGGTCCTCAGGGAGGAGATCAAAAAGAAAGATGATTTATCTAGTCTTCTACCCATCAGAAATTATAGTAGAACCCAGGTACGCAGAGAAGCCATCTCCACAGGGAGAGCAGAAGTGTGACCCCATGGGGCCTCTCCTTCCTATCCTGGCCATCCCCTATCCATGGCAGGAATTCCACAGAAGCCCATCATCACTGGTTATAAATCTTCATTACGGGAAAAAGACACAGCCACCCTAAACTGTCAGTCTTCTGGGAGCAAGCCTGCAGCCCGGCTCACCTGGAGAAAGGGTGACCAAGAACTCCACGGTGAGTACCTCCTGCCTTGGGGTTACAGGAGAAAGTGGTGCTGGAAAGAGAGAGAAGTGCCTGTCTGTGAACGTACACAGGAGGCATGGTATGGAAGAGAAAAGGGGAATGACATATATTTTGTGTGCACTCAAGTGCCTATGTGTGTGTTGGGGCCTACATTCTCCCTGCCACAACTTTCTAAGTTTATCTAGGTTGAGACTCACCATCTGTACGTCTACAATGAGGCCCACATGATATCTGTATGTTAGGTTTACTCTGTGTCTCTCTCTGTGTGTTTGTGTGTGTGCCACTGTTTCTGCACTCTAGGAGAACCAACCCGCATACAGGAAGATCCCAATGGTAAAACCTTCACTGTCAGCAGCTCGGTGACATTCCAGGTTACCCGGGAGGATGATGGGGCGAGCATCGTGTGCTCTGTGAACCATGAATCTCTAAAGGGAGCTGACAGATCCACCTCTCAACGCATTGAAGTTTTATGTATGTCATGGGCTTGGGGATGAAGAAGGATGAGGTATGAGATGAGGACCAGGGAGAAAGAGAATGCAGGTGACTGTGCATGAAACAACACGCACAGTTAAGTGAATAGGTAAAAAATGAAACAAAGACTGCCAGGACTAGGCCAGGGTTGGCAAACTCTTTACAGAGGGCCCAGTAATGAATATTTTAGGCTTTGAGACCCATACAGCCTCTGTGTCAACTACTTAATTCTCCGTTGTTGTAGGGACGCAGTCATAGACAATATGTAAACAAACGAGCTGGGCTGTGTTCCAGTAAAACTTTATTTACAAAAGAATGCAGGTGGCAGGATTTGGTCCAAGGGGATACCAACCCGTGGTCTAGGCCAGTATAATGTAGCCAGGCTGCAAACTGTTGTCGTAACTGTGGTAACTCAGGATTCCCAGGAAGTAGTTTCTAGTCTGCACTCCACCACTTACTAGCTGTGTGATATTCAGAAGATTACTTTACCCCACTGAGCTTGATTCTATATTTGCTAAGTGAAAGAGATGAGCGTGGGGATCACTACAGTTTTATCTTGGTTTAACAATTTATGATTTCAAGAAAATATGGGTGGTAGGAAAGCACAGTTTCCCTGGCATCATTATTCCCAGATCTTTTCCTTACTGACTGCTCTTCTATTTGCCCCAGCTCCATGTATTTTCCTGGGATTCTGACCTGAAATGGCCACTGTCACTGTCATTACTCCTGGCCCTTCCCAGGACACTCACACCCTCTGTGGAATTTGCCTTTAGTATGGTTAGGACACTTCTGAGGAAGTTTGGAAACGGGAATTTCTCATCTGAGGAAATTCAGAAATTTGTAAAGAACAGCCTCTCTGGGTGGAGGAACCAAAGGGAAAAGAATCAGCTAAAGTCCAATGGGAGAAGTTAGAGTTAGGAAATGGTGTATTTCTTGTCCTAACTTACCTAAAAGTTGGGCAGTTTTCAAAATAACCAAAGCCCTTCATCCTCTTCTTGTGGAGTCGACCTAGGCCCAATTATTTTCCTAACTTCAGTGTTATTTAATCATATCTTAGACCCATTACTCAAACTTTAACCTGAGGTAGGTTTAGGGTGCATCACTATTCATTTGGCAGACTCAATCCACAGGCCGACAATCCGGACTCTAGCCGCAGTGCTGCCGCTTACTAGCTGTGCTCCTTTGGCCAAAGCATTTCATCTTTCTGTGGCTCCTGCTTACTTTGCTGAGTTATTGTGAGGATAAATAAAACAATGCATGTGAAAGAACTTTGTAAATGTCAAAGTTCTATATTCCTATAAGGTGCTTCTCTGATTATTAGTTCCTAGTGTGAGGCCCTGACCTGGAGCTTTTCCCCCCGCCCCTTGGTCCCTGGCCAGAGCTAAAGCCTTGGTCCCCTGCCTGAGCCCCAAAGACTCCTCTGTTAGATACCAGACCATCTGGCAGTTACTCGCCAGGGA
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TGCAGTTTTCTACCAGCTACCTCTTGTGTAAATGAATGTGCAATCCAAGAGCTGGTTTAGCCTTTTCCCCATTTTAGTTTTAGGATTATTAGTCACAACTGCTTCTCCTGTTCTTGTTCTTATATGTAGGTGGTGGCAGGAAGGCCAAACGTAGAACAACAGATATGTCTGTGTGTTTTCAGAGGTAAATGGTAGAACCATATCAGAAAAGACACATGTGGAGTGGTATGTGCAGATTTGGGGTGCCTTTACTCCTCTAAATGTTCGTGGCCCTGTCAGTTCATTCAGGAAACATTTAACAAGTGACTATTTGTTTTTCTGTGTATTCAAAGTAAGTAAAACTAAGATCTGTCTTTCCCTCCACCGCCACCACCACCTCTTTTCCTTCCCCCATGAAACCTTACGGGTACACAGAGACCTTGTGTACACAAGGGCCTTGGATGGTCTGAACTAGATGAGGTGTACTTTGGCTCAGAAATGGGAGGAGGGGCTAGGGGTCCTCAGGAAACTAACACTCTTCTACTCCTGCAGACAGCCAGCCCTGGACATCTGATGAAACAGTGGTGGCTGGTGGCACCGTGGTGCTCAAGTGCCAAGTGAAAGATCACGAGGACTCATCCCTGCAATGGTCTAACCCTGCTCAGCAGACTCTCTACTTTGGGGAGAAGAGAGGTAGTATCTCATGAGTTATCTTTCTCCGTGAAAACCATGGGCTAGAGAAGGGGACTGCAGACACCGAGGGGAACTGTTCCTGTCATCCAGAGGCTGAGAAACATGGTGGTCTGCTGTTTGAGGATGTAACAAGCCATGAGTTCCCCAACTGGTTCCAGTATTGCAGCTCTGATTTACAGCATGCATAATCTTACAGGGTTCTGGAGTGACTTCACCCCACAGGAGGAACTCTAACAGGAAGCTGAAGTCAGTGTTGCCCTAGGTATCTGACAATGAAGCTCACGAAATCCAAACTATTTTCTGAGTAGCTCTTAGGCTACTATGTCTAATGACCCAGAAAAGTGATTGAATAACTTAAAGACTGCTTAAACTCAGGAGCAGTTATTTTTTCCCCACCCACCATACTAGACCCCTTCCCCCAAAGAAGCTGGCCTGGGATTGGAAGGTAAACATGAAAGGTGCCAGTAAAATCCTAGCTTTCCATTCTCTTGATTTCCCCAGCCCTTCGAGATAATCGAATTCAGCTGGTTACCTCTACGCCCCACGAGCTCAGCATCAGCATCAGCAATGTGGCCCTGGCAGACGAGGGCGAGTACACCTGCTCAATCTTCACTATGCCTGTGCGAACTGCCAAGTCCCTCGTCACTGTGCTAGGTGAGACTCCCAAACCCCAGTGTCTCTACAGCATGCTTCCTTGCAAACAAACCTCCCTAGATGGGTCCCTGAAGCAGCTGGGAGCCAGGCAAGTCTCCAAGCACTTTAGGAAAGTTCAGCCTGTGTTCCCCTGGCAATGGGATAAAATGTAAAAAGAAATGGGTTTTAATCCTTTGTGCTCTACTTGCTGTTTGATCTAGGACAAGGTTCTTACTCTCTTTGAGTCTGAATTTTCTCTTATAACAGAGAGATGATCATACCCCTTCTACTTACCTCCCAAGATGGTGTGAGGAAAACACAAGACATGCATGTGTTATAATTTCCAAAATAAGTACCCCAGTTGCTTACATGCTCTCATCTTCATCCTATATTTCATCCTATATTTCAACTTCCTTCTTTGCGTCTCTGAGACTCACACTATTTCTGTGGCCACCCAATTGTGCTGTAAGTGGAGGGTCATATATCATGCCTGTGCTATGGCATTGCTCCTCACTGCCATGCTGTCTCCCGCAGGCCTTCCTTTCTGGTCCTCAGGGAGGAGATCAAAAAGAAAGATGATTTATCTAGTCTTCTACCCATCAGAAATTATAGTAGAACCCAGGTACGCAGAGAAGCCATCTCCACAGGGAGAGCAGAAGTGTGACCCCATGGGGCCTCTCCTTCCTATCCTGGCCATCCCCTATCCATGGCAGGAATTCCACAGAAGCCCATCATCACTGGTTGTAAATCTTCATTACGGGAAAAAGACACAGCCACCCTAAACTGTCAGTCTTCTGGGAGCAAGCCTGCAGCCCGGCTCACCTGGAGAAAGGGTGACCAAGAACTCCACGGTGAGTACCTCCTGCCTTGGGGTTACAGGAGAAAGTGGTGCTGGAAAGAGAGAGAAGTGCCTGTCTGTGAACGTACACAGGAGGCATGGTATGGAAGAGAAAAGGGGAATGACATATATTTTGTGTGCACTCAAGTGCCTATGTGTGTGTTGGGGCCTACATTCTCCCTGCCACAACTTTCTAAGTTTATCTAGGTTGAGACTCACCATCTGTACGTCTACAATGAGGCCCACATGATATCTGTATGTTAGGTTTACTCTGTGTCTCTCTCTGTGTGTTTGTGTGTGTGCCACTGTTTCTGCACTCTAGGAGAACCAACCCGCATACAGGAAGATCCCAATGGTAAAACCTTCACTGTCAGCAGCTCGGTGACATTCCAGGTTACCCGGGAGGATGATGGGGCGAGCATCGTGTGCTCTGTGAACCATGAATCTCTAAAGGGAGCTGACAGATCCACCTCTCAACGCATTGAAGTTTTATGTATGTCATGGGCTTGGGGATGAAGAAGGATGAGGTATGAGATGAGGACCAGGGAGAAAGAGAATGCAGGTGACTGTGCATGAAACAACACGCACAGTTAAGTGAATAGGTAAAAAATGAAACAAAGACTGCCAGGACTAGGCCAGGGTTGGCAAACTCTTTACAGAGGGCCCAGTAATGAATATTTTAGGCTTTGAGACCCATACAGCCTCTGTGTCAACTACTTAATTCTCCGTTGTTGTAGGGACGCAGTCATAGACAATATGTAAACAAACGAGCTGGGCTGTGTTCCAGTAAAACTTTATTTACAAAAGAATGCAGGTGGCAGGATTTGGTCCAAGGGGATACCAACCCGTGGTCTAGGCCAGTATAATGTAGCCAGGCTGCAAACTGTTGTCGTAACTGTGGTAACTCAGGATTCCCAGGAAGTAGTTTCTAGTCTGCACTCCACCACTTACTAGCTGTGTGATATTCAGAAGATTACTTTACCCCACTGAGCTTGATTCTATATTTGCTAAGTGAAAGAGATGAGCGTGGGGATCACTACAGTTTTATCTTGGTTTAACAATTTATGATTTCAAGAAAATATGGGTGGTAGGAAAGCACAGTTTCCCTGGCATCATTATTCCCAGATCTTTTCCTTACTGACTGCTCTTCTATTTGCCCCAGCTCCATGTATTTTCCTGGGATTCTGACCTGAAATGGCCACTGTCACTGTCATTACTCCTGGCCCTTCCCAGGACACTCACACCCTCTGTGGAATTTGCCTTTAGTATGGTTAGGACACTTCTGAGGAAGTTTGGAAACGGGAATTTCTCATCTGAGGAAATTCAGAAATTTGTAAAGAACAGCCTCTCTGGGTGGAGGAACCAAAGGGAAAAGAATCAGCTAAAGTCCAATGGGAGAAGTTAGAGTTAGGAAATGGTGTATTTCTTGTCCTAACTTACCTAAAAGTTGGGCAGTTTTCAAAATAACCAAAGCCCTTCATCCTCTTCTTGTGGAGTCGACCTAGGCCCAATTATTTTCCTAACTTCAGTGTTATTTAATCATATCTTAGACCCATTACTCAAACTTTAACCTGAGGTAGGTTTAGGGTGCATCACTATTCATTTGGCAGACTCAATCCACAGGCCGACAATCCGGACTCTAGCCGCAGTGCTGCCGCTTACTAGCTGTGCTCCTTTGGCCAAAGCATTTCATCTTTCTGTGGCTCCTGCTTACTTTGCTGAGTTATTGTGAGGATAAATAAAACAATGCATGTGAAAGAACTTTGTAAATGTCAAAGTTCTATATTCCTATAAGGTGCTTCTCTGATTATTAGTTCCTAGTGTGAGGCCCTGACCTGGAGCTTTTCCCCCCGCCCCTTGGTCCCTGGCCAGAGCTAAAGCCTTGGTCCCCTGCCTGAGCCCCAAAGACTCCTCTGTTAGATACCAGACCATCTGGCAGTTACTCGCCAGGGA
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Task1_train_1911
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This variant lies on Chromosome 1 and affects the gene ACKR1 (atypical chemokine receptor 1 (Duffy blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; ACKR1-related disorder
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TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAGATGCCTGGCCAATGAAACAGTTCCAGAGACTTTATGTCCCCCAGTAGAAATATGAATAGAAATCACCCTGTGGGCAATGGTCCCATTTTAAAATATGCTGTCCCATTGTCCCCTAGAGCCTACTTTAACTTGTCAGACCATGTATTCCACTTCATATGCAAGAGGCATGCACTGAGCCCATAGGTGGCTAGGCAAACACCCAATAGCTCCCTGAAATGGCTTCATTATGCAGCCTCGACAGCCACCCCAACCCTCCCACTCTCACACTGAAACACCCAGACCTAGAGATAGCTAGACACACCCAGACACCCGCCAAGCCCCTCACATACAGATATGTGCACAATGATACACAGCAAACGTACACAGAGTTCAGTACACACAAAGAGCTCACGCCCACGTGCACACACCCCTCAGTTGGGACAGAGTTGACCACCACCACCTTTCTCCCAAACACATGGCTTTTGAACTGCCTTTCCTTGGATCCAGTTCAAGGGGATGGAGGAGCAGTGAGAGTCAGCCGCCCTTCCACTCCAATTTCCCAGCACCTCCCTTATCTCTGCCTCACAAGTCACCCAGCCCCCCTCTCTTCCTTCCTTGTGCTTGAAGAATCTCTCCTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATCTCTACTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATGCCCACTTTCTGGTCCCCACCTTTTTCCTGAGTGTAGTCCCAACCAGCCAAATCCAACCTCAAAACAGGAAGACCCAAGGCCAGTGACCCCCATAGGCCTGAGGCTTGTGCAGGCAGTGGGCGTGGGGTAAGGCTTCCTGATGCCCCCTGTCCCTGCCCAGAACCTGATGGCCCTCATTAGTCCTTGGCTCTTATCTTGGAAGCACAGGCGCTGACAGCCGTCCCAGCCCTTCTGTCTGCGGGCCTGAACCAAACGGTGCCATGGGGAACTGTCTGCACAGGGTGAGTATGGGGCCAGGCCCCAGAGTCCCTTATCCCTATGCCCCTCATTTCCCCTGCTGTTTGCCCCTCAGTCTTTATATCTCTTCCTTTTCCTCCTCATCTTTTCTCCCTTCCTGCTTTTTTCCTCTTCCTTCAAAGTCTTTTTCCTTCTCTCCTTCCTATGCTAGCCTCCTAGCTCCCTCTTGTGTCCCTCCCTTTGCCTTTGAGTCAGTTCCATCCTGGTCTCTTGGTGCCTTTTCCTTCTGACCTTGCACTGCTCCTCCAGCCCCAGCTGCCCTGGCTTCCCCAGGACTGTTCCTGCTCCGGCTCTTCAGGCTCCCTGCTTTGTCCTTTTCCACTGTCCGCACTGCATCTGACTCCTGCAGAGACCTTGTTCTCCCACCCGACCTTCCTCTCTGTCCTCCCCTCCCACCTGCCCCTCAATTCCCAGGAGACTCTTCCGGTGTAACTCTGATGGCCTCCTCTGGGTATGTCCTCCAGGCGGAGCTCTCCCCCTCAACTGAGAACTCAAGTCAGCTGGACTTCGAAGATGTATGGAATTCTTCCTATGGTGTGAATGATTCCTTCCCAGATGGAGACTATGGTGCCAACCTGGAAGCAGCTGCCCCCTGCCACTCCTGTAACCTGCTGGATGACTCTGCACTGCCCTTCTTCATCCTCACCAGTGTCCTGGGTATCCTAGCTAGCAGCACTGTCCTCTTCATGCTTTTCAGACCTCTCTTCCGCTGGCAGCTCTGCCCTGGCTGGCCTGTCCTGGCACAGCTGGCTGTGGGCAGTGCCCTCTTCAGCATTGTGGTGCCCGTCTTGGCCCCAGGGCTAGGTAGCACTCGCAGCTCTGCCCTGTGTAGCCTGGGCTACTGTGTCTGGTATGGCTCAGCCTTTGCCCAGGCTTTGCTGCTAGGGTGCCATGCCTCCCTGGGCCACAGACTGGGTGCAGGCCAGGTCCCAGGCCTCACCCTGGGGCTCACTGTGGGAATTTGGGGAGTGGCTGCCCTACTGACACTGCCTGTCACCCTGGCCAGTGGTGCTTCTGGTGGACTCTGCACCCTGATATACAGCACGGAGCTGAAGGCTTTGCAGGCCACACACACTGTAGCCTGTCTTGCCATCTTTGTCTTGTTGCCATTGGGTTTGTTTGGAGCCAAGGGGCTGAAGAAGGCATTGGGTATGGGGCCAGGCCCCTGGATGAATATCCTGTGGGCCTGGTTTATTTTCTGGTGGCCTCATGGGGTGGTTCTAGGACTGGATTTCCTGGTGAGGTCCAAGCTGTTGCTGTTGTCAACATGTCTGGCCCAGCAGGCTCTGGACCTGCTGCTGAACCTGGCAGAAGCCCTGGCAATTTTGCACTGTGTGGCTACGCCCCTGCTCCTCGCCCTATTCTGCCACCAGGCCACCCGCACCCTCTTGCCCTCTCTGCCCCTCCCTGAAGGATGGTCTTCTCATCTGGACACCCTTGGAAGCAAATCCTAGTTCTCTTCCCACCTGTCAACCTGAATTAAAGTCTACACTGCCTTTGTGAAGCGGGTGGTTTCTTATTTTGTCTGGGGAGAAGAAGGAGAATGGAGAGAGAGACATTTTTATGTCAGACTTTCTTGCCAGTGTCTGCTTCTATAGCTGGCTTGGGAAGAAGGTGAATGATGAATAAATACCCTCAGGGTACACAGATGTTCTCTTGAGGTGTGGGGTCACGGCCATCTCAAGGGAGAAGAGAAGAGGAACCAGAGCATGAGGGGAGTCATTAAACCAAAAAAAACAGAAGGGATGGCTTAGCTGGAAAAAAAGCTGTTCTGGGAAGCAAATGGAATAGGAACTCAAACTGAGAGATAAACAGTGAAGAGTGATGACAAAGCCCAGAGCAATACCACCTCCCCCTGTCCAACCTGCCCAGCCTCTGTCTTCTGTCTCCTCTCTGGCTTTGTTTAGTGATTAGGACAGTGGTGGGGAAGGTGAAAGAAGCATCCCAGGGGATGTTACTCAGTTCAGGGAACATATCAAGGTAATTTAAAAAGCCACTTCCTGGGAGTCATCTCTCCCAGGTTCCTCAGCATGACCTGAATGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTACACATCTGTTTCTCGATCTGTTAGAATCTACCTTTATGTTAGATGTATGCATGTAAAAACATATGTCCACCCATGAGCTTGCATCTCTGTCAGCACCTGAACTGCGCACACCTGTGCGTGTGCACTGACTTTTCTCAGGACCCAAACCCCCACTCAATTCTGCACTCATCCCTGTTCACAGGATATAGAATCGGGATTTATGACTCACTCCTTACCCAAATGAGTTTTCTTTACCCTGGTTTTTAAGCCTAGTCTTTTCTGTGTAGGATGTGTGGAGGGAAGAAAAGATCAAGAAGTTGTGAAGGGTGGAGAAACTTGAAGGGGGAGGCCCTGATTTGATTCATCTTCTGCTTGGAATTCCCCGAATTTCCCTTTCAGAATCTCAGCTTTTGAAATAAACCTTTATTTCCCACATACATCTTTCCTTCCACCTTCCACACAATACCCCAATCCCCTGGGCACCTTTTTCCCAACCCCTGATTCTCTGGCTGCTTAATCATGACCTTTGAGATTTTTCTCAGTCTCTACCTACCCAAGTTTAGATGGCTGGAAGGACAGAAACCCCTCCTCATCAGGGGCACAGCTTTTACCACCAAGAGCAAATTCACCCTCTACCCAAGAGGCTACAAAACAGTTAGTTCCTACCTCTAACCCAACTAAAGGCTGGGGAAACTTGAGCAGAT
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TGAAGCAGCCGATGCTGTTTTGGACAAATGAAACAGCGTCCCCTAACCAGCCCTTTCTATCTCATTGTTCTGACTTGGACACGCCATGGCTCACCGCTCCCAAAGTCCCCACTATGTCTCCCTAGCTGAGGAAATAAAAGCAGAGAGGGGTGATGAAACAGTGACGATCCTGGGGAAACAGCTGAGGAGGGGAGGGAGGGGGAAGAAGCCACTAAAAAAGTGAAATGTGCTTGGGAGAATCGGCCTGCCTGCAGGGTAGATGCCCTTTCTCTCTGCTGGCCAGCTCTGCCCCTCAGTGAGAAACTTTACATATTGCTAAGATGCCTGGCCAATGAAACAGTTCCAGAGACTTTATGTCCCCCAGTAGAAATATGAATAGAAATCACCCTGTGGGCAATGGTCCCATTTTAAAATATGCTGTCCCATTGTCCCCTAGAGCCTACTTTAACTTGTCAGACCATGTATTCCACTTCATATGCAAGAGGCATGCACTGAGCCCATAGGTGGCTAGGCAAACACCCAATAGCTCCCTGAAATGGCTTCATTATGCAGCCTCGACAGCCACCCCAACCCTCCCACTCTCACACTGAAACACCCAGACCTAGAGATAGCTAGACACACCCAGACACCCGCCAAGCCCCTCACATACAGATATGTGCACAATGATACACAGCAAACGTACACAGAGTTCAGTACACACAAAGAGCTCACGCCCACGTGCACACACCCCTCAGTTGGGACAGAGTTGACCACCACCACCTTTCTCCCAAACACATGGCTTTTGAACTGCCTTTCCTTGGATCCAGTTCAAGGGGATGGAGGAGCAGTGAGAGTCAGCCGCCCTTCCACTCCAATTTCCCAGCACCTCCCTTATCTCTGCCTCACAAGTCACCCAGCCCCCCTCTCTTCCTTCCTTGTGCTTGAAGAATCTCTCCTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATCTCTACTTGCTGGAAAGCCCCCTGTTTTCTCAATCTCCCTTTCCACTTCGGTAAAATGCCCACTTTCTGGTCCCCACCTTTTTCCTGAGTGTAGTCCCAACCAGCCAAATCCAACCTCAAAACAGGAAGACCCAAGGCCAGTGACCCCCATAGGCCTGAGGCTTGTGCAGGCAGTGGGCGTGGGGTAAGGCTTCCTGATGCCCCCTGTCCCTGCCCAGAACCTGATGGCCCTCATTAGTCCTTGGCTCTTATCTTGGAAGCACAGGCGCTGACAGCCGTCCCAGCCCTTCTGTCTGCGGGCCTGAACCAAACGGTGCCATGGGGAACTGTCTGCACAGGGTGAGTATGGGGCCAGGCCCCAGAGTCCCTTATCCCTATGCCCCTCATTTCCCCTGCTGTTTGCCCCTCAGTCTTTATATCTCTTCCTTTTCCTCCTCATCTTTTCTCCCTTCCTGCTTTTTTCCTCTTCCTTCAAAGTCTTTTTCCTTCTCTCCTTCCTATGCTAGCCTCCTAGCTCCCTCTTGTGTCCCTCCCTTTGCCTTTGAGTCAGTTCCATCCTGGTCTCTTGGTGCCTTTTCCTTCTGACCTTGCACTGCTCCTCCAGCCCCAGCTGCCCTGGCTTCCCCAGGACTGTTCCTGCTCCGGCTCTTCAGGCTCCCTGCTTTGTCCTTTTCCACTGTCCGCACTGCATCTGACTCCTGCAGAGACCTTGTTCTCCCACCCGACCTTCCTCTCTGTCCTCCCCTCCCACCTGCCCCTCAATTCCCAGGAGACTCTTCCGGTGTAACTCTGATGGCCTCCTCTGGGTATGTCCTCCAGGCGGAGCTCTCCCCCTCAACTGAGAACTCAAGTCAGCTGGACTTCGAAGATGTATGGAATTCTTCCTATGGTGTGAATGATTCCTTCCCAGATGGAGACTATGGTGCCAACCTGGAAGCAGCTGCCCCCTGCCACTCCTGTAACCTGCTGGATGACTCTGCACTGCCCTTCTTCATCCTCACCAGTGTCCTGGGTATCCTAGCTAGCAGCACTGTCCTCTTCATGCTTTTCAGACCTCTCTTCTGCTGGCAGCTCTGCCCTGGCTGGCCTGTCCTGGCACAGCTGGCTGTGGGCAGTGCCCTCTTCAGCATTGTGGTGCCCGTCTTGGCCCCAGGGCTAGGTAGCACTCGCAGCTCTGCCCTGTGTAGCCTGGGCTACTGTGTCTGGTATGGCTCAGCCTTTGCCCAGGCTTTGCTGCTAGGGTGCCATGCCTCCCTGGGCCACAGACTGGGTGCAGGCCAGGTCCCAGGCCTCACCCTGGGGCTCACTGTGGGAATTTGGGGAGTGGCTGCCCTACTGACACTGCCTGTCACCCTGGCCAGTGGTGCTTCTGGTGGACTCTGCACCCTGATATACAGCACGGAGCTGAAGGCTTTGCAGGCCACACACACTGTAGCCTGTCTTGCCATCTTTGTCTTGTTGCCATTGGGTTTGTTTGGAGCCAAGGGGCTGAAGAAGGCATTGGGTATGGGGCCAGGCCCCTGGATGAATATCCTGTGGGCCTGGTTTATTTTCTGGTGGCCTCATGGGGTGGTTCTAGGACTGGATTTCCTGGTGAGGTCCAAGCTGTTGCTGTTGTCAACATGTCTGGCCCAGCAGGCTCTGGACCTGCTGCTGAACCTGGCAGAAGCCCTGGCAATTTTGCACTGTGTGGCTACGCCCCTGCTCCTCGCCCTATTCTGCCACCAGGCCACCCGCACCCTCTTGCCCTCTCTGCCCCTCCCTGAAGGATGGTCTTCTCATCTGGACACCCTTGGAAGCAAATCCTAGTTCTCTTCCCACCTGTCAACCTGAATTAAAGTCTACACTGCCTTTGTGAAGCGGGTGGTTTCTTATTTTGTCTGGGGAGAAGAAGGAGAATGGAGAGAGAGACATTTTTATGTCAGACTTTCTTGCCAGTGTCTGCTTCTATAGCTGGCTTGGGAAGAAGGTGAATGATGAATAAATACCCTCAGGGTACACAGATGTTCTCTTGAGGTGTGGGGTCACGGCCATCTCAAGGGAGAAGAGAAGAGGAACCAGAGCATGAGGGGAGTCATTAAACCAAAAAAAACAGAAGGGATGGCTTAGCTGGAAAAAAAGCTGTTCTGGGAAGCAAATGGAATAGGAACTCAAACTGAGAGATAAACAGTGAAGAGTGATGACAAAGCCCAGAGCAATACCACCTCCCCCTGTCCAACCTGCCCAGCCTCTGTCTTCTGTCTCCTCTCTGGCTTTGTTTAGTGATTAGGACAGTGGTGGGGAAGGTGAAAGAAGCATCCCAGGGGATGTTACTCAGTTCAGGGAACATATCAAGGTAATTTAAAAAGCCACTTCCTGGGAGTCATCTCTCCCAGGTTCCTCAGCATGACCTGAATGTGCGTGCGTGTGTGTGTGTGTGTGTGTGTACACATCTGTTTCTCGATCTGTTAGAATCTACCTTTATGTTAGATGTATGCATGTAAAAACATATGTCCACCCATGAGCTTGCATCTCTGTCAGCACCTGAACTGCGCACACCTGTGCGTGTGCACTGACTTTTCTCAGGACCCAAACCCCCACTCAATTCTGCACTCATCCCTGTTCACAGGATATAGAATCGGGATTTATGACTCACTCCTTACCCAAATGAGTTTTCTTTACCCTGGTTTTTAAGCCTAGTCTTTTCTGTGTAGGATGTGTGGAGGGAAGAAAAGATCAAGAAGTTGTGAAGGGTGGAGAAACTTGAAGGGGGAGGCCCTGATTTGATTCATCTTCTGCTTGGAATTCCCCGAATTTCCCTTTCAGAATCTCAGCTTTTGAAATAAACCTTTATTTCCCACATACATCTTTCCTTCCACCTTCCACACAATACCCCAATCCCCTGGGCACCTTTTTCCCAACCCCTGATTCTCTGGCTGCTTAATCATGACCTTTGAGATTTTTCTCAGTCTCTACCTACCCAAGTTTAGATGGCTGGAAGGACAGAAACCCCTCCTCATCAGGGGCACAGCTTTTACCACCAAGAGCAAATTCACCCTCTACCCAAGAGGCTACAAAACAGTTAGTTCCTACCTCTAACCCAACTAAAGGCTGGGGAAACTTGAGCAGAT
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Task1_train_1912
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Given this context: Chromosome 1, gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; SeSAME-like syndrome
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TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCAT
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TGGGGCTTTGGATAAAGCTCTGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGTAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCAT
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Task1_train_1913
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Here is a variant affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 4
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TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
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TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGTGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
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Task1_train_1914
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The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; EAST syndrome
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TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
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TGGTGCCTATATGCCCTTCCCTGACCCTTACCACAGACCCCACCAGGGAACAAGGAATAGGCTGAGTTTGATCTCTTAAAGTCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGTGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATT
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Task1_train_1915
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A genetic alteration is present in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; EAST syndrome
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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Task1_train_1916
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With a mutation on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; EAST syndrome
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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Task1_train_1917
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Consider a variant on Chromosome 1 in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). Determine its clinical classification and disease relevance.
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Pathogenic; Pendred syndrome
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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Task1_train_1918
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Assess the clinical impact of this variant on gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Autosomal recessive nonsyndromic hearing loss 4
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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TCTACTTTTTAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCACCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAAT
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Task1_train_1919
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The gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; EAST syndrome
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TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGC
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TAACTTGTCTGAAAATGGCCTCATGGCAGAGGAGAGTAGAGATGACACTGATTTCTTCATTTTATACCAAGTCTCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGATACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGC
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Task1_train_1920
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Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; EAST syndrome
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TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGA
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TCAGGAATGGCTGAGGGAAGCCATGGTTATTTGATCAGAAGGTATAATTTCATTTCCTTCCAGCATTGCCTAATGAAATAGCTGGCACTTTTCAGAAGGGCACTGGGAGGTGTAACTGAGAATAGTGGCTGCCAGCCACAGAGTTCTGCTCCTGCCCAAACCTTAACAAAGCATCACCAATTCTCAGAGGCTCTGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACGTTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGA
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Task1_train_1921
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Given a variant located on Chromosome 1 and affecting KCNJ10 (potassium inwardly rectifying channel subfamily J member 10), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; EAST syndrome
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TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAG
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TGTACAGCAGTTTGGAAATCTGAGAATTTACCCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCCAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAG
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Task1_train_1922
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This mutation is located in gene KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Cerebellar ataxia
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1923
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This mutation occurs in KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Microcephaly
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1924
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This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Spastic diplegia
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1925
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This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Bilateral sensorineural hearing impairment
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1926
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This sequence change occurs on Chromosome 1, altering KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Renal tubular dysfunction
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1927
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Located on Chromosome 1, this mutation impacts KCNJ10 (potassium inwardly rectifying channel subfamily J member 10). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; EAST syndrome
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGCGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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CCATCCCTCATGGTGGGATTGTGTTAACTTTCTGGGGAATCTGTGCCCTGTGAATCTAGTTTTACTTGAGCATCCGTGTTAAGAGAGGAAGGCCCTTGCATTTTCCCTCCCTTCTCCCAAAGAGTTGGGGTTAAGGAAGAAGGATCTAGGCTGAGCAGGAAAGGAAGAAGAGAAGCCAGGTACAGTGTAATCTGGAATATTATTTTCAGACCTTTCCATGGGGCCTGGGTACTGGACTCTTTTCAAAGGAACATATTGGCTTGGGTCCTTCCATTCACAGGACACAGGGAAACAGATCTTCTCTGGGCTGCCTGGAAGATAGGTTTAAAGGTTTAGATAACAACTTGTGTTAGTCACTCCAAATTGAAGAGTTCAGAATCCAGGATAGATATGGGTGGTTATATGTTTATGTTTCTTGGGCCAACTCCAATTCTCTGAGAACAGAGGCTATGAGGGAACTGGGTATCCTGAGAGTGTTCACTTGAGAAACTACAGAGGGAAAACAGTGGCGACCATGGTTCTAGCTTATGGTCAGAAGTCACCAGCAGAAATCAAGCTTCACAGTGGCAAACCCTGGCTTCTTTCAACAGAGATTGGTAGAAACCCTAGGATATGTTGATATCAGATTCCTGTATTTCTGAAAGCACAGACCACAAAGTGACCATCAGAGAGAGTCTTGCCTTTGGGAACTTGCTAGATGGAAAGGTAACAGAGGGAGCTCCAGCCTCAAGTCACCAAACTTCATGGTGGTGGTGGGAGGTAGGGGGCAGTCTATCCTTCCAACCACATGGTCCTCCTAATGTGAGTATCCAAGCATGGCTGAGGCCTTCTAAGCCACTTCAGCCTAATCCCACTCTTTCCCCCATCCTGGCTTAAGGGAGGTATGTGTATTGGGGCAGAAGCTGGGGAAGTGGAAAGGGGACAGTGGGAGGCGAACCTGGACTCCAGTTGGCCTAAGCTACCAACAGGCCACTGGGTTAAAGAAGAGGGAGTGGAGGATGGGTGCTTCGGGGGATCTCCAGTAAACCCGGGTAGTATTCCTTACCAGGGCATTGGAAGAGAGGAAAAGAGACCAGAGGAATGGGGGAGTGGGAACAGGTCATCAGACATTGCTGATGCGCACACTAAGGGCACTGCCCTCCTTCTCAGCTTGCTCCCTTAATGACTCCTCCAACTTGAGCTTTTCAGGGTCTCCGTAGCGTACAGTGCTGTCACGGAGGCCACTAGGAGAGGCCACTTTCACAACTTGGTCAAAAAGGCTAAAGTCAGCTATGTATTTACCACTGGCTGACAGTGAGATGGCAGGTGTGAACTCGTAGCCCCAAAGGATCTCCTCTGGCAGGTAGGAAGTGCGCACCTGACAGGTGGCACTGGTGGACTCCACTGTCCCACTTAGGATCAGCACCAGCTCAAAGTCACCCTCACCACTGCGAAGAGGGAGATCTTTCAAGGGACTGGTCTCATCTACCACATGATAGAAGGTAAGGGGTAGAATAAGGAAGGGGCTGTCAGAGGCTGTGTCTACTTGGAAAGTCACATTGACCTGGTTGAGCCGGATGTTCTCCCCTTCCTTGGTTTGGTGGGTCTGAAGCAGTTTTCCTGTCACCTGGCAGCCAATGAGGAGGCTTTTGCGCATATTGGCAACTCGGATCATGAGGCAGGGCTTGCCATTGTGGGAGGCCACAACTGCATGCTGGCTGAAACGAATGGTCTCAGCCCGCTTCTTGGGCCGGGCAATCTTCGCCAGGAAGGTACCTGTGATGAAGATTTCCAGGATGGTGGTGAGCACCAGCTGGGCAATAAGAAGCACAATGGCCAGTGGACATTCCTCACTGATGTAGCGGAAGCCATAGCCAATGGTGGTTTGGGATTCAAGGGAGAAGAGGAAGGCTCCAGTGAGTGTGTGCACCTGTACCACACAGGGGGTGTGGTTGGCCGGGGGGTCCAGCTCCAGCAGGTCCCCATGTGCCACAGCTACCAGATACCACACCACGCCAAAGAGGAACCATGTGCCTGCAAAGGTCGCAGAGAAGAGCAGAAGCTTGTAGGGCCACTGCATGTCAATGAAGGTTGTCCACAGGTCCTTGAGGTAGAGGAAGCGCTTGTCGGCAATGTGCTCCATTCTCACGTTGCTGCGACCATCTTTTGTCAGGACTCTCCGCCGTCGTATCCCTGGGCCCATTAGGGGCCGGCTTTCTGTCTGAGTGGTCTGACTGTAATACACCTTGGCAACTGACGTCATCTGGAGGGAGCAAGACAGCATAATGGAGGTTATCGTAGAAATCCAGCTGACTCCTAACCCTCACCCCATGGGAGGGAGGAATTAACATTCATTTGAATGTCGCTTATGTGTTCTTGTCTTACCAAATATTTATTGAGCACTTGCTATGTGCCAGGCACTGTGCAGGGGCCGAGGCGGGTGGATCGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGACATCGCGCCACTGCACTCCAGCCTGGGTGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAAGTAAATAAAATAAAATAAAATAAAATGACATCATTCTGCTCTCCAAGAACTCACAGCCTAGTGAGAAAGATGCCTATTTAGTAAGCAAATAATTGCAACACAGTCTGATATTTGTAATTCTTAGCGGAAGAGAGGCAGAAAAGAAAGAGTAGTAGCTTCACATTCCTTGAAGGTGAGGGTGAGACTAATGAGAGCCTTCACCACAAAACCAGTCCTCCGAAGAGCTCTAATTTTGAAATAGGATCCATCCCCACCCTTATGAATGGCTATGAAGCAAGACAAGCTATCCTGTTGAAATCCTTCCAGGCCAATCCCCCTTAAAACACACACACACACACACACACACACACACACACACACACACAACCTTAATTTCTTCATTCTCTGCTCTACCCCCAAGCCAATACCCACTGGTGATACTAAGATACTCATCTGGTTCAGAGAATAGCAGAAACTACCCATTCTTTTACCCTTCAAGATGCTCCCTAAGCACCCAGACCATTTCATTTTTTATCATCATCATCATCATCTGTTTGCATCATCTGGGGAAATTTGGTCTGAGTTAGAGTCTAGGGCAGTGTTAGGAAGAGTACAGATGGGACTTGAACAAAAGGAAATAAGCAGTGGTGGAGGAGAAACAACATGTTAAAACTTCCTGGAAGCACTGGGACATTTTCTGAAGGACTGGCAGAAATGCCAGATTGTGGGTGGCAAAATTGTTTTGACAGAATGAAGTAGAAGAGCTAGGGGTGTATATTAACTAGCAGCTATGTCTGCACAGGCTCAAATTCAGTATTGCTATTTGTTCTGATAGCAGAAAGTGGGGCAAGCCACTGAAATAGGAGACAATTCACTTAATACAAGGTGCCTGGCACCCTTGCCCAAGCAGTAACTTGTACTTTTCCAGCACAGAAAGAATTTTAATCACTTGAGCCCTTGGACCCTGGATCTGATAGCCAGATCTTCTGTGGAGCAGGGTGATCTCTGGGGAGTTTAGCCCTTCTTGGAGAGGCTCATTACATTCTCCATTCGAAAAAGTCTGAACCATTGCATTTTATGATTCTTCACACTGCCCACCCCACCCCCCATCTCTATTTTCCCCATGGCCTTGTCCCTGGAAAACTTCAAATCTTTTGGGCCTGACCATATGCCCAACCAGGTAGGCACTGAATTGGAGATCACCAATGGATGAGAACCCTGAGAATGTTCAGAGGCAACAAGGATGCCCAATTTACCAGCCCTGTGTCACAGGCCATTTGGAACTTCCGTTCATGCAAGACTGTTCAACCAGACCTGGATGTCATTCACTCCCCTATATCCTTGGCTGCTTTGGAACAAAAAGGAAGCTCTGCAACTCTGAAGTTTGAAGAATTTGTATTTCAAGCCTAAACAAAGCCCTATTTAGTACTCAGTAGTAGTAATAATAACATAACAAC
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Task1_train_1928
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Given this context: Chromosome 1, gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Migraine, familial hemiplegic, 2
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AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTTGTGTGACACTGACGGTCAATAATGTAGGACTTGAGCAGGGTGTGGAGGTGCCCACCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATTGCTTTAGCCCAGGGTTCAAGGATGCAGTGAGCTATAATTGCACCACTGCGCTCCAGCCTGGGCAACATAGCAAGAATCCATCTCTTAAAAAAAAATCTAGGACTCTCCTAGAATCCTTGATAAAATAATCTGAAGGAAGAGAGATGGGGAAAAAACAGTTGAGGTGTCTTTCCAGGGAGCTTATCCAGACTGCCTCCAGGGGAGATGTTATGGCCCTAACCATAGGTGTTGTCTCAATCCAATATAATTAGGGGTCAAGCCCAGTCAAACCCTTCTCAGCCCTCAAGCCCTCCAAGTTGCATCACAAATGCCACCTCCTCCATGTGGTCTCTCCTGATGGTCCCCCACCCCTTCCAACCAGGTGGGACTTTCCTTCTGGGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATG
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AAGGGCAGGGACTTTGTTGGTCTTGTCCATCTCTGCATCCGCAGAGTGACAATTGTGCCTGGCACTGGATATACATTTATTAAATGAATGAATGAATGAAAAAAAAAAAAAAAGAAACGGTCCCTGCTTTAAAGGAGCTCAAAGTCTAGTAGCAGAAAAAATGCAATCCTAGGATTCCAATGCAATATGGTGAGTGCAGCTCTAGAATCAAGTATAGAACACCATGGGGAACCAGAAAGAAGCATCTGAACCAGCCTGGGGCTGAGGGAATAGGGCCAGGCAAGGCTTTCTGTGGAAAGTGACAGGTGATTGCCAAAGTTGTGTGACACTGACGGTCAATAATGTAGGACTTGAGCAGGGTGTGGAGGTGCCCACCTGTAGTCTCAGCTACTTGGGAGGCTGAGGTGGAAGGATTGCTTTAGCCCAGGGTTCAAGGATGCAGTGAGCTATAATTGCACCACTGCGCTCCAGCCTGGGCAACATAGCAAGAATCCATCTCTTAAAAAAAAATCTAGGACTCTCCTAGAATCCTTGATAAAATAATCTGAAGGAAGAGAGATGGGGAAAAAACAGTTGAGGTGTCTTTCCAGGGAGCTTATCCAGACTGCCTCCAGGGGAGATGTTATGGCCCTAACCATAGGTGTTGTCTCAATCCAATATAATTAGGGGTCAAGCCCAGTCAAACCCTTCTCAGCCCTCAAGCCCTCCAAGTTGCATCACAAATGCCACCTCCTCCATGTGGTCTCTCCTGATGGTCCCCCACCCCTTCCAACCAGGTGGGACTTTCCTTCTGGGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGATGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATG
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Task1_train_1929
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The gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Migraine, familial hemiplegic, 2
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GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
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GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTTGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
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Task1_train_1930
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Given this variant in gene ATP1A2, LOC126805890 (ATPase Na+/K+ transporting subunit alpha 2| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Familial hemiplegic migraine
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GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTCGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
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GGCATTCTTCCCATGCCCGGGAGCTGAAGGGATGGGCATGGTGACTGGCTGGGTTGGCTCCGGATGCGTGCCCCTACGCCTCTCCTTGCTCCCTCAGGGCCTCACCAACCAGCGGGCTCAGGACGTTCTGGCTCGAGATGGGCCCAACGCCCTCACACCACCTCCCACAACCCCTGAGTGGGTCAAGTTCTGCCGTCAGCTTTTCGGGGGGTTCTCCATCCTGCTGTGGATTGGGGCTATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGGAGGATGAACCATCCAACGACAATGTGAGCCCACACGCCCGACCCGGGAACAGCCCGTGACTGTCCTCCAACCCTGAACCCCCAACACAGTGGGGGGTGGGCAGGGAACAAGGCCCTCACATAACAGTCCTACAGATGCCCCTGCATCTTAGGCTGGAAAGGGGAGAGGCTTCTATATATATCTGTAAAGTACTCCTCCGCCAACAGTGCATACACATTCACATACTCATTAATTAATGAAACAATCTCTCCCTGTTCCTCCCCGCTTAAGTGAGCCTGTCTGTGTGCCTGGGTCTTCATCCCCTAGCAAAGTCCTAACCCTGGGAACTTCCTAAGACTTTCCCTCCCATTTCTAGTCTTAACAGGCTTGAGGTTGGCAGATCAAGGGGGAGGTTAGTGAGAAGGGCTTTCCCCTACCATCATCACTCTCAGTCACAGACAAAGGTCTGGGCTGTCATCTTGGATGGCACTGCCTGCTCATCCCAAGTGGCAGCTGCCCCTTTAGGGTTGGGGGGAAGGTCAGGTCCCTGAAACTCTTTCTCCTTACCAGCTATATCTGGGTGTGGTGCTGGCAGCTGTGGTCATTGTCACTGGCTGCTTCTCCTACTACCAGGAGGCCAAGAGCTCCAAGATCATGGATTCCTTCAAGAACATGGTACCTCAGGTAAGATGGCAGGGCTGGGCTCTGGGCTAGGCTGTAAGGTTTTGGCAAGAGTCCAGCTCATCTTTTGTCAGCTCCCAGGCTCTAAGATAGAGATGGACAGAAAAGATCCTCCAGCTTTCCATGCCAGCACCTAATTGTTTATGGGGCTTCTCCTTCTGCTTGACGGTGTGGGAGACCAGCAGGAGAAGAAGGCAGGGGCAGAGACAAGCATTTCATGAGCTGCCTGTGGCTCCCCACAGCAAGCCCTTGTGATCCGGGAGGGAGAGAAGATGCAGATCAACGCAGAGGAAGTGGTGGTGGGAGACCTGGTGGAGGTGAAGGGTGGAGACCGCGTCCCTGCTGACCTCCGGATCATCTCTTCTCATGGCTGTAAGGTGAGGAGGTCATACCAGAGCAAGCAGTTGAGTCTAAGGAGAAGGCTGTGTGCAGAGCTGAGAGGGGCCCAGTGAGGTTTAAAGGTGGAGAGACCCAGGTCCAAATGTCAACACCATGCCTATGCCCCTGCTAAACCTTCTCTCAGTGTGGGGTGCTTGTGCAGTGCCTCCTTGCATCTGTGTGTTATGAATGCTCTATGCCCCAGGTATTTCTTTGTTGTCCACTTTTTAGCAATCATGTATTGAATACCAATTATGTGTCAGCTGCTTTATATATGTTCGATGTGCTATCTGATGTAATTCTGAAAGAGTGGTGTAATCATGCAGGGCTGCTGAATGTGGCCACACACGTTGCATCCTGAATGACCCCAGGAGGTGCATTTTCATAACTACAGTGTTAGTGTCTCCCCCTGTGGTTGTGCAAGGCAGAGATTCTGTTTACATTCACCATTTTACAGTTGAGTACATGGAGGCTCTCTTGGTTAAGCAAGTAACCCGAGGTCACATAAGAAGTCAGGAGGAGTCAGAATTCCAAACCAGGGCAGGGGCAATAGATGAGTAATGCCATAAATATGTGATGAGGGCAAGTGTGACTTTGTTCCTCGTGTCATGAAGATTGAGTGTGGTTGGAGGTGGTTCAGGAGACAGCTGTGTGCATACAAGTGGCTCTGCCAGTCTGATGACTATGCACTCCTTCCTCCTCAGGTGGATAACTCATCCTTAACAGGAGAGTTGGAGCCCCAGACCCGCTCCCCCGAGTTCACCCATGAGAACCCCCTGGAGACCCGCAATATCTGTTTCTTCTCCACCAACTGTGTTGAAGGTGAGAAGCCAGGCTGCCCCCTGTAGGAAAGAGTCTGAATCCTGAATCCATAGTCAGGATGAAGGGCTCTGGTAGTACTTACCTGGCAAAAGCTCTGCCATTGGTGGGGCAATTGAGGGGTCAGGGGGCCCTGAATATTATGGAAACACCCTCCACAGAGCAGGGTATTGACTGAGGGCAGCCTGACTCCATGGGAAATGTATCTCCCTTCCCCAGGGAGATCTCTGTTCTGTCCACCCCAAGACTGAGTGGATTTCAAAGCTTTCAGGTATTGGGTTAAGAACCCCTTACGCATGCGCACACACAGATGCACATACGCTCAGAACCAACCTGGATTCTTAGGAGTCTTTGGATTTGATTGATGCTTCTATTCCTTGTGGTTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATA
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Task1_train_1931
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The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Inborn genetic diseases
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TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
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TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATGACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
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Task1_train_1932
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This variant affects gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Alternating hemiplegia of childhood 1
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TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
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TTCTGGGCCTCGCTGCCCCCTTCGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATGACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCT
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Task1_train_1933
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Here is a variant affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Migraine, familial hemiplegic, 2
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CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
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CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGAGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
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Task1_train_1934
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A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Familial hemiplegic migraine
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CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
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CGATAACCTTTGCTTTGGCCAGGGCCCCAGGGTCTGGGAGGGCCAAGAAGGCATTCTGGCCAGGTGAACACTTGGGGCCTACTTCAGGCTGCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGAGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAA
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Task1_train_1935
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With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Familial hemiplegic migraine
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GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAG
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GCTTCTAACCTTTGTTACATCAAAAGACATGTTTCACCATGCACAGACTACCCAGTTTGCCCCATCCCTGTTCTGGGTTCTAGAGATAAACAAAGGTCAATAAGAACTCCCAGAGCTGCCATCACTTAATGGCAGGGGTCCAAGCACAACTGAAACCTGTGCCCTCTGTGGTAAAGCCAGTGAGCAGAGTCAGGGCTGCATCAGAGAAGGAGTAGGAGGGAAGAGACAGAAAGAGGCCTCACTAGACCAGTGGCCTCTGAAAATAGGGCAAAGGAGGCCTCATATCCCAATCCACACTTCCCCTGTCCATTACTCATTTCTCCTCAGTGTATTATGTTTCTCTGTGGTTTTTTTCCCTTCTTCGACAAGTTGGAATTCCACTGCTTGGAATCCATGAGGGATTGGTTCCAGGACCCCCTTCGTTACCAAAATCTAAGGATCCTCAAAGGCCCTGATATGAAATCGCATAATATTTGCATATAATCTGCGCACATCCTCCCATATACTTTGAATCAACTCTAGATTACTTATAATACCGAGTGCAATGTAATTTTTATACTGTTTTGTTTTTAAATTTGTATTATTTTTATTGTTGTATTGTTATTTTTATTTAGCTCCAAATATTTTCGATCTGAGGTTGGTTGAATCTATGGACATGGAATCTGTGAATATGGAGGGCCAACTGTACAAATAAAAATCACCACACATTACATTTCCTAAGTTTGTTTTTTGTTTTGCTTTTGAGACAAGATCTTGCTTTGTCACCCAGACTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACCTCCCAGGCTCAAGCGATCTCCCACCTCAGCCTCCAGAGTATTTGGGACTACAGGCGCGTGATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGGCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAG
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Task1_train_1936
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The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Migraine, familial hemiplegic, 2
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ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTC
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ATACCACACCCAGCTAATATATATATATGTATATTAGAGATGGGGTCTCACTATGTTACCCAGGCTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGGCAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTC
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Task1_train_1937
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Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Familial hemiplegic migraine
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CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCC
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CTGGCCTCAAACTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGTCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCC
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Task1_train_1938
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Here is a genetic alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Familial hemiplegic migraine
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CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCC
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CTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGAGCCTGGCCAAATTTCCTAAATTTTTAATGTACTGAGATTTTGAAATTTACATTTCCCACAATTGATTTATTCAGAAATGCCTAGTAATACATTCCTATTGCTTACTCTGCAATTGGCTTTGAAAAGAGGAAAGGAAATAAATGAGATATTTGTTGAGCACCCGCTATGTTCCAGGCACTGGCCTAAGTATATTAAAGCACAATCTCATCTAAATATTAAAACAGCACCGAGATAGGAATTCAAATAAGGATTCAAACCCAAATTTGGCTGGCTCCAATGTGCATGCTTTTTTCAATACACCACCCTTCCTTCCCAGAAGACCCCTGTAATGTCACACAAGGGTTAGCAATTGCCTGGCTTCCTCTATAGAGATTCATGCCTAATGTTGAGAAAGAAAATCTTAAGACTGGATGGAAAATCCATAATGAGTGCTTTACTTTGTGTTCATAATATACTTTTGGATGGTATCAAGTATGGGAATGATTTTACCAAAATGCCACAGGCAATTTTTATTTATTGAATCTTGTCTATTTGAACTTTGAGATTATTTGCAAGCTTCTCCCCAGGCTCGAGTACAAGAGAAAATAATTTGCTGTTGTATTGATTCAAGGATTGGCGATCTATCCAGGGAAAGGAAGGCCAAGTGGGGACAACCTACTGAATGTGGCCTCCAGATCTGCGGCTTTGGCTCACCTATCCTGTGATGATTTTCCTTGCTCAGGAAATAGGATGGGACTGCAGTCCCTGGGAGCCACAAGGCACCCAACCTGATGCCCCACCATGTTGCAGGCACTGCCAGGGGCATTGTGATTGCCACAGGAGACCGGACGGTGATGGGCCGCATAGCTACTCTCGCCTCAGGCCTGGAGGTTGGGCGGACACCCATAGCAATGGAGATTGAACACTTCATCCAGCTGATCACAGGGGTCGCTGTATTCCTGGGGGTCTCCTTCTTCGTGCTCTCCCTCATCCTGGGCTACAGCTGGCTGGAGGCAGTCATCTTCCTCATCGGCATCATAGTGGCCAACGTGCCTGAGGGGCTTCTGGCCACTGTCACTGTGAGTGGGTCAGGCTGAGGTGCCACCAGGGGAGGGTCTCACTACTCTTTCCTCAGAGTGATAGAGGCACAGTTGCTTGTAGCTTCTCACTACTTTTTCCCCCTAGAGTCACTTATTGGATGCGATACTCAGAGATCACTTAATACATGGCTTAGGGTATGAGTTGAGAAATCTCAGGTGGGGCTATTCTTAGGCACTCAGTTTCTCTTTTGGAGCTTGTCACGGCTGCCTTTTCTCACGATCTGCCAGCAGTCTGGGTCTCATTCCGTCCAAGTCTCCTGTAGAGGCTGTCTCAAAGGTCACCAGTCACTAACTAGCAAATCCAGGGACCTTTTCTCAGCTCTCCTCCCTAACTCTGCTGCTGAAACAGATACTGCTGTCCACCCTCCTACCATTCTCTCTTTTGTCGATTGCTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGTCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCC
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Task1_train_1939
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A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Familial hemiplegic migraine
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CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCA
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CTGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGTGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCA
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Task1_train_1940
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This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial hemiplegic migraine
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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Task1_train_1941
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This mutation occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; ATP1A2-related disorder
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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Task1_train_1942
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This mutation is located in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Developmental and epileptic encephalopathy 98
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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Task1_train_1943
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This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Migraine, familial hemiplegic, 2
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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TGTGATGTGTCACTATCCTGGTTCGCCTCTCCTCTGTCCCTTCCTGCTCCCCCTACACTGATTCTCAGGCCTCAGCTGTCTGTTCTTCCTACACCCTGAGCAAGAGCCAATCTCCTCCCAGTTTGCAGTGTCCCTTCTGTGTTGATGACTCAGACATCCCTATGCTCAGCTCTGCTCTGGCCCTCTCTGGAGCTCTAGTCAAACGTCTTAAACCCCCTAATGGGCATTTCATCTTAACAGATACTCATGATCTCAACACATCTAAAATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCATGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAG
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Task1_train_1944
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With a mutation on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Inborn genetic diseases
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCAGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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Task1_train_1945
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Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance.
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Pathogenic; Familial hemiplegic migraine
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCAGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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Task1_train_1946
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A variant found in Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Familial hemiplegic migraine
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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AATTGAACATTCATTATTTACAGCTAAGTCCCACCCATTCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCTGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACA
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Task1_train_1947
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Located on Chromosome 1, this mutation impacts ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; ATP1A2-related disorder
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TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
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TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCACAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
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Task1_train_1948
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This genomic variant is located on Chromosome 1, within the ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Familial hemiplegic migraine
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TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCGCAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
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TCAAGTTAGTGGAGTAGAATCAGGGGAGGAGGAATGGAGCCACGGTCTAGGGTAAGGTTATGGCCATCTCCGGCTTCAGCCTTAACCTTTTTTATTCTCCTCTTTCTCTACCAGGTGTGCCTGACCCTGACAGCCAAGCGCATGGCACGGAAGAACTGCCTGGTGAAGAACCTGGAGGCGGTGGAGACGCTGGGCTCCACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCCAGAACCGCATGACCGTCGCCCACATGTGGTTCGACAACCAAATCCATGAGGCTGACACCACCGAAGATCAGTCTGGTGATTGGGTGCTCCAGAGGGGGTGGATAGGATTAGAGGAGGCTGAGGGCAGTGGCGTGGTGGGGTGAGTGGTTGAGATAAAGGCTCTAAAGGGAGCCACGCTCCTGGTTCCCCCTCATTTCCTCCCAGGGGCCACTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGAATTGCTGGTCTCTGCAACCGCGCCGTCTTCAAGGCAGGACAGGAGAACATCTCCGTGTCTAAGGTAGGGGGTCAGGACACACACCAGGTATGTTTTGGGGGTGTCTCCAAAGCCTCTTGCTGGCCCCAGCTTTCCTTCTCACATGATGTGGCTGCCTTGGGGGTTTCAGTGCCGCCTTCACCTGATCCTCCACTCCCTTCCCTCCCATGCTGACACTGAATTCTTGTCTCTTCTGGCAGCGGGACACAGCTGGTGATGCCTCTGAGTCAGCTCTGCTCAAGTGCATTGAGCTCTCCTGTGGCTCAGTGAGGAAAATGAGAGACAGAAACCCCAAGGTGGCAGAGATTCCTTTCAACTCTACCAACAAGTACCAGGTCTGCTTGGGTTGCCAGGACAGAGGAAGAGAGAGGGATATAAATGGGTGAGGGTGGACAAAGCCAAGGGGAATCATCACTAGCAGGAGTGGGGGTGTCTGAGGGTCATGTTCCCTCCCCCTGCTAAGTCCCCCAGGACAGCTCATATGACTGCATGTCTGATTGCAACTAGCCCCAGCTCCCAAACCTTACTCCATCCCTTACTACAATCTGTCACTCTCTCAACTCTTCTTCCCATAGCTCCGCATCCTCTGGCCTAGCCTTCCAACTCTTCTACCCCAGTCAGTGAAACCATAATTCTGTAATTCCTTTATGGTGCCCCTTAGCCTTTAGGCACCTGTTAAATGCCAAGAATGCAATCTCAGCATTCCTTATTATCCATAGAGGTAAAGCCCCCTGAGGCCAGGTGGTGGTGGGGATGCTGAGGAGGGAGCCGTTCAGCCCCTAGCACAGTGCCTGTCTTAACCTGACCTCAATAAATATTTGTTGAATGAAAGACTGTCCTACGGAGGTGGCTCTCAGGTTACAAGTGTTGGAACTGTGAGGTCTAAACACCCCCCTGCACAAGGAGATTCTCTTTGTTGACAATCTTTGATGGGTTGGGGCTACTTTTCTAAGGTGGTTTCCTTACCAGCTGCTGCTCTATGCCGCGCTACCAAGACAAGTATGGCCCTCTCTGTAACTACCTGTTGTCTCTCCAGCTGTCTATCCACGAGCGAGAAGACAGCCCCCAGAGCCACGTGCTGGTGATGAAGGGGGCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGTGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGATGCCTTTCAAAATGCCTACATGGAGCTGGGGGGACTTGGGGAGCGTGTGCTGGGTGAGAGGCCAGAAACAGGAGGCTCAGAAGGGGATTCCCAAGCCTCTGCGGCATCCCTGGGGTGGGGGACTGTGGGGGCGTCCAGGAAGCCACTCTGCGGATCTCACTGATCCCTTCTGCCCCCCTTTAGGATTCTGTCAACTGAATCTGCCATCTGGAAAGTTTCCTCGGGGCTTCAAATTCGACACGGATGAGCTGAACTTTCCCACGGAGAAGCTTTGCTTTGTGGGGCTCATGTCTATGATTGACCCTCCCCGGGCTGCTGTGCCAGATGCTGTGGGCAAGTGCCGAAGCACAGGCATCAAGGTACTGGCCTCCCATCCTCCCCTCCATTCTAGCCTCCCCCATGCCAGAGTTCAAGGAGCTGCAGTGGCTGCTGCCCTGGAAAGGCCCAGGCCACGGTGGCCTCCTTCCCACTGACTCAGAGAAGAAGCTGTCCATCTGCAAGGAAAGGCCCACCCCTGCCTTGGGGCACTCACCCTTATCCCTTTTGCTCAGAGAGGCCAGTGTCCCATGCCCCTCCTCTCCCTCCCTGGCACAGCTCTTTGTCCCATCTGCATGTGTACCCTTCCATTCTGATTTGAAGCATAATCTGGCACTCCTATCTTGAAGACCTAGTTGTCCTACCCTTCCCAACTACTGCCCACCCTCTCTGTCAACTTAGGATGGGATTAGCAGGCTCTTGTATGCTCCCAGTGGCTCAGCCCATAACCCCACAGAATGCCTCCCACTCAAGGTTCTCTTGTTCAACTACAATTGCTTCTCACTGACCACTCCCTCCTCTGTGCTATGTTTGTTCTTCATTCAACAAATATTTACTGTTTACTATGTTTCAGACACTGTGCAAGGTGCAAACTCTAGCACCTTGCACAGTGCCTGATACATAGTAAACAATTTGTGTCACATGACACATCTAGATGGGACAATGAGCTGTGCCAGGGAGGACACATATAAATCAGGCACTATTCTAAGCACTAAACCTCTATGATTTCATTTAATCTACGCAACAACCCTGTGAATAAGCACCAGTATTTTTCCTTTTTTACAAAGAGGGAAACTGAGGCACAAAGTAACATGCCAAGGCCACACAGCTAGTGTAAGTCATAGAGCAGGTACTTGAACCAAGGCAGTCTGCTATTTCTTAACTATCATACCAGGAGACTTGTTTCTGTGGGTGTATGTGGTTTCTGAACCCCATAACCACTCTGTCTCCGAGGCAGGCATCATTATCCCTGTTAAAAGTAAAACAAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGGGGGTCCAAGGCTGGTGGATCACCTGAGATAAGGAGTCCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAAAAAAATACAAAAATTAGCCACGTGTAGTGGCAGGTGCCTGTAATCCCAGCTCCTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTAGGCCACTGCACTCCAGCCTAGGCGACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAGTAAAACAAATGGAAACTGCAAGTGGGTAAGTCTTTTCCCCAAAATAAAACCACCAGTAAGTGATGGACTGGGACTATGAAGCATGATCTGCTTGACCGGAAAGCCTGAGCTCCTGCTGCTTGGCCAGGTGCCTCTCTCTGTGATCAGAACCATCACGGAGGCCTGGGCAGAGGACCTCTATGGGAAGTCAGCTCAGGGAAGCATTAATTCTGCCTCAGAGAACTGGACGATGTTTGACAAAAGGAATGATATTTGAGCTGGGCTTTGGAGGTCAAAGAGTATTCTGCAAAGCAGTGAGGGAGAGGAAGGCATGTCAAGATCAGGGAACAGTGTGTACCCTGGCGTGGCTAGACTGTACGGAGCGTGTGTAGGGGTTGGCAGGGGAGAGGTGGCAAGGAGTACTGGGGGTTGAGACTGGAACACTGGGTCAGAGCCAGTTGGAAGGACTTGGCTTAAATGCCAGACTTGGGCTTTATCCTGCAGGCCACAGAGAGCCATCAGTGTCACGGGGGAGGTTGAGCTTTTAGGAGACTACCTGGTTTGAGGAGGGACTGGATTTGGGGAAGAACTGGAGTCAGGGAGAGACAGGTTAAGAGGCCATTGCCATAGTTCAGGCAAAGAATGATGACCTGAACTAGGGCAGAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAG
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Task1_train_1949
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A variant was discovered in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Familial hemiplegic migraine
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GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGTGCAAACTAAAGGCTTATAGTATGTTGTATTATATTGCCCAGAAAGAGCAGACAGGTCAAGTGAAGGGAGGAGAATGAAATCCTGTGCCAAACCAACATTTAGGCACAAGAGGAACCAGTGAGGAGGGGAGAGGGTGGTAGGAACCAATGCCATTTAATCTTCATGACCACCTAGAAAGGCAGGAATCATCTCTGCATTGTGCTGAGACCTCAGTGCTTCACTTGCCTAAGGTGCTGTAGCTGGAGAAGGTCGGTGTTTAAACTTGAGCCCCTCATTCAACTCCAAAGCCACTGCTTCTTCCATCCTACTAGGCTGCCACCCTGAGAGGCTGGGAAAGAGCATGCAGAGGAGTGGAGGGAAAACAGGAATGGAGGAGTATGTGGAAGCCAGGGGAGGGCAGGGTTTCAAGGAGAAGAGGTCAACGGTGCCAAATGCCTCAGAGGGGTCAAGTAGGATGAGGACGGCAAAGACACTTTTCATTTTTCAATTGAGAGGCCCCTGTGGCCTTTGGGTGGCAGTTTCAGTGAAGTGGTGGGAGTGGAAGATAAGGCAGTGGGGACCATGGAGGCTTCCTTTTCAGTATCCATAGGACTTGCCCTGCAAGCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACT
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GAAACAAAGGGAATGGAGAGGAATAGCCATGTCTGAGAAATGTTTTGAGAACTTGGTGACCAAACTGGATATGGAAGGTGAGGAAGATACAGGAGAGAAGGGGACAGGATGAATAGAGAGGACAACATCTAAGGTAGGGAGCAGTAGCAGGCTTGGTGGGGTGGCAGGAGTAGAGAAAAGGAGTTCAATGTTGACCTTAAGCTTAAAGAGTCTATAAGATACCCCAGGAAAGACAGATGTTCCAGTGAACATTGGAGTATGGTTTAGAGCTCATGAAAGATGGTCAGGACTGGAGATTTGAATCTCATTAGCACAAGGGTGCAAACTAAAGGCTTATAGTATGTTGTATTATATTGCCCAGAAAGAGCAGACAGGTCAAGTGAAGGGAGGAGAATGAAATCCTGTGCCAAACCAACATTTAGGCACAAGAGGAACCAGTGAGGAGGGGAGAGGGTGGTAGGAACCAATGCCATTTAATCTTCATGACCACCTAGAAAGGCAGGAATCATCTCTGCATTGTGCTGAGACCTCAGTGCTTCACTTGCCTAAGGTGCTGTAGCTGGAGAAGGTCGGTGTTTAAACTTGAGCCCCTCATTCAACTCCAAAGCCACTGCTTCTTCCATCCTACTAGGCTGCCACCCTGAGAGGCTGGGAAAGAGCATGCAGAGGAGTGGAGGGAAAACAGGAATGGAGGAGTATGTGGAAGCCAGGGGAGGGCAGGGTTTCAAGGAGAAGAGGTCAACGGTGCCAAATGCCTCAGAGGGGTCAAGTAGGATGAGGACGGCAAAGACACTTTTCATTTTTCAATTGAGAGGCCCCTGTGGCCTTTGGGTGGCAGTTTCAGTGAAGTGGTGGGAGTGGAAGATAAGGCAGTGGGGACCATGGAGGCTTCCTTTTCAGTATCCATAGGACTTGCCCTGCAAGCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCATGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACT
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Task1_train_1950
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Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Familial hemiplegic migraine
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GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCA
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GCCCACACATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACAGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCA
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Task1_train_1951
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An alteration has been detected in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCT
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ATGCAAATGCTATCCTAACCCAACTCTGCTCACCTCATAGCCTCTTAGCCCATCAGATGCCAGCCACCCTCCCCATCCCAACTCCATTCACTCTGCAACAATAGCAATGAACATTATGGTGAAGGTAGGGACCACCGTGCTCACCAGGGAGGATGTCAGAGGCAGATGCTCAAGGTGGTGGAGGCAGGGGTGTTGTCTCCATCTTATTCCTGTTCTGTCCATTACATTGCTGCAGTGATCAATATTTGACACTAAGAACCTCATGTCCTATATCCAGGTCCCTGTGCATTTGAGCAAATTGTAGCCCCTCTCTAAGCCTTGGTTTCCTCATGTGTAAAATAAAGGAGTTGTTAAAGGGTCCTTCCAGCTCTGACTGCCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAAAGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCT
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Task1_train_1952
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The following genetic variant occurs in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Migraine, familial hemiplegic, 2
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CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGA
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CCTTGAATCCCATGAAATCCAAAATCCTAAAATATCTCCTAAATAATCCTAAAGATTTGAGGCTTCTCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCCGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGA
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Task1_train_1953
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A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Familial hemiplegic migraine
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TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATG
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TCTTCCAGGGGATCCTCATGAACTTGTTACTCTGTTATGGATACTTTCCTGCACTTAAGCAAACTATCTCTCTCTAACCCTCTGAACATAACTCAACTTGCCATTATCTTTCCTCCTCACCCACCCACTCAAATTCACACAGACACACACAAATCCCCACCTCACATACACACACATCCCACACACACACATAGACACACACAATCCCCACCCCCCACACACACATCTCACACACACGCACACATACACAAATCCCCACCCCACATACACACACACACACATACCCCACACACACACACACATCCCACACACACACATTCCCTCTCACACACACACACAATCCCCACCCCCTCACACACACACAATCCCCACCCACACACACACACACACATCCTACACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCTCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATG
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Task1_train_1954
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Given a variant located on Chromosome 1 and affecting ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Familial hemiplegic migraine
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ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
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ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACAAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
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Task1_train_1955
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This alteration in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Migraine, familial hemiplegic, 2
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ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
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ACACACATACACACACCCCACACACACACACATACACACACACACATACACCCCACCCCAGCCACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACAAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGT
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Task1_train_1956
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This variant affects the gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Migraine, familial hemiplegic, 2
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1957
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The gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Alternating hemiplegia of childhood 1
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1958
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A genomic change on Chromosome 1 affects ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1959
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A sequence alteration has been identified in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Developmental and epileptic encephalopathy 98
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1960
|
Gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Migraine, familial hemiplegic, 2
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1961
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A genetic alteration is present in ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Alternating hemiplegia of childhood 1
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1962
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This alteration occurs within gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial hemiplegic migraine
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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CACTCCCCTGCCCACAGACGCACACACACATGCCCTTATTTCGGTTGGGATCTGCCATCCCCAGACATCTCGCTATCTAGCTTTCTCTTACTTTGGGAGAGGAACAGGAGGGGGATAAACCCTTAATACTACTTTCCTGTTGTCTCCTCTCCTTCCCACTAGGTGATCATGGTAACCGGGGATCACCCTATCACAGCCAAGGCCATTGCCAAAGGCGTGGGCATCATATCAGAGGGTAACGAGACTGTGGAGGACATTGCAGCCCGGCTCAACATTCCCATGAGTCAAGTCAACCCCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCAGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTA
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Task1_train_1963
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Given this context: Chromosome 1, gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Migraine, familial hemiplegic, 2
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CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACTGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACA
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CCAGGTGAGGCCTCTGCAGGAAGCCCCTGTGCCCTAATCAACACGTCCTCTTGCACAGAAGGCTTGGGTGTCCCCTGGGAGTATTTGGATAGCATTTCTGGGACCTTTATAGGCCTTACCTCTGACACTATTGTGACTGGTTCCTCAGCCCTGAGCTTGTATCCAGGCTGTGCCACTGAATACCCATGTAACCTTGGAGATGTCACATTCCCTTCCTGAGCCTCCATTTTCTCACCACAAAATTAGGATGCCATCTCCACTGCTGTAGGAGTGGGATGTGAGTAAAGAAACTAGCCCAGGGCCTAGCAAACTGCACTTACAACTGCGATGATCCCATGGTGAGGATTTAGACTCACATTCTCAAAGAGAAATGGGGGAAGTGAGTACTGAGGAGAGGAGAACTGAAGCAACAGGGGAAGCAGGCTCAGCAGGGAGCCTGCAGGCTGCGGTGGTGAAGAGAGGCAGGGGGCAGGAGGGGCTGGTACAGGTGCCAGGGGTCAGCTGTCTCTGTCCCCACCCACCCTCCAGAGAAGCCAAGGCATGCGTGGTGCACGGCTCTGACCTGAAGGACATGACATCGGAGCAGCTCGATGAGATCCTCAAGAACCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGAAGCTCATCATTGTGGAGGGATGTCAGAGGCAGGTGAGCACAGCCACGGGAGGCAGATGACAGGCAGGGACCGGGGAGGCAGGGACAGGGCCAAGACAAGCATGGAGTGAGAGGCGAGGAGCCAGGCTTGGGAAGGGGTTTCGTCCTCAAGTGTGGCCGTCTTCCCTCCAGGGAGCCATTGTGGCCGTGACGGGTGACGGGGTGAACGACTCCCCTGCATTGAAGAAGGCTGACATTGGCATTGCCATGGGCATCTCTGGCTCTGACGTCTCTAAGCAGGCAGCCGACATGATCCTGCTGGATGACAACTTTGCCTCCATCGTCACGGGGGTGGAGGAGGGTGAGGAGGCTGCATGGGTTGGGATGGTTTGCAGGATACTGAAGCCGGCACCTCTGTTCCCTGTCCCTTTACCCCAGTTGAAGAATCATTCCACAACTCTAGGCAGCCCAGCCCACTTTAGCTTCCCTTGAACACAAAATCTTCCTCTCTTGGGAAGACAGGCAGCCATGCTTCAGGGGCTGGGGGTGGGGAAGAGTCCCTCTGACCTCCCTGATGCCCTCAGAATCTCCCCACAGGCCGCCTGATCTTTGACAACTTGAAGAAATCCATCGCCTACACCCTGACCAGCAACATCCCCGAGATCACCCCCTTCCTGCTGTTCATCATTGCCAACATCCCCCTACCTCTGGGCACTGTGACCATCCTTTGCATTGACCTGGGCACAGATATGGTGAGCGCAGGAGGTGGAGGAGGGGACAGGCAAGGCAATCGTGATGGCACAGTGGCAGGGAGGAGAGGTGCACTGGGGCAGTGGCCCCAGCTGTGGGGGTTACAGGAGACAGGCACAGGCCTGGAAGACAATGGGGTCTGAATACACGCTTTTTTAACTGTGTCAACGATCGTCACTGTCGAAGATCAATTGCTTCTGTCATCTCCTACGTCCCTTCAAATGCCCTCCCTGCCCCATTTCCTACCCCACACAGGTCCCTGCCATCTCCTTGGCCTATGAGGCAGCTGAGAGTGATATCATGAAGCGGCAGCCACGAAACTCCCAGACGGACAAGCTGGTGAATGAGAGGCTCATCAGCATGGCCTACGGACAGATCGGTGCGCCAAGCCCCGGGCCTCGGGAGGGAACCCCAACAGGGTTCTTTTCCCAGCTTTCAGAGGAATGAGCCCCAAGCAAAATTCCAGGACAGAGGCCAGCTACCCAAGGGTCAGGGACCTCCATCTCTGGCCCTGAGGGGCTGTGCCCCTTCTGCTTCCTGCTCTGACCCTGCCCCTGCCTTTGGCCCTCTACCCACAGGGATGATCCAGGCACTGGGTGGCTTCTTCACCTACTTTGTGATCCTGGCAGAGAACGGTTTCCTGCCATCACGGCTACTGGGAATCCGCCTCGACCGGGATGACCGGACCATGAATGATCTGGAGGACAGCTATGGACAGGAGTGGGTGAGTGGTGCTGTGTAAACACAGCGCACATGTGTGAAGGTACGGGAAGCTGAATGCCTGGCAGGAGTGGCCAGTGGTGGCCAACTGGGACTGGGGCTAGGGGTGGATCAGGAGAAACCATGCTACCTTCTGGTCCTACCCTTTCCTCCGACACTCTCATCTGTCTCTGCCCACCCTCCCTCCAGACCTATGAGCAGCGGAAGGTGGTGGAGTTCACGTGCCACACGGCATTCTTTGCCAGCATCGTGGTGGTGCAGTGGGCTGACCTCATCATCTGCAAGACCCGCCGCAACTCAGTCTTCCAGCAGGGCATGAAGTGAGTGCCCACCCCCATGGCACCTACCCACCCAGGCTCTGGGCACACTCACCAACCCACACAGGCCAAGCTTCCAACTCAGCCCTGGACCAGAGCTGTAAGGAGGGCATCAGATTTTAATCTTCCATCTGTATATCCATAGATAGGTTTCATATAGAAGAGAGAAGCCATGCTTCAGGCTCCTAATTTTGCATTTTGTTATTGTCTCTCTCCACCTTTCTTCTCTCCTTCTCTCCCTCCCTTCTTTCCCCCATCTCCTACTTGAGTGCCACCTGCTCCTATCCTTTGCCCAGCCCTAAATCCAGTGTCTTCTGTGCCCACCCCTCCCCTGGCCTTCCGCAGGCAGTCTAGTTTATAGCACTTGCACTGTGGTTCTGGAGGCCACGTGCTGCCGAGGGTCGGGTTCAGCGCTTCTTGCAGTGTGAGTTCCAGCGTGCCAGGCACTGTGCTAAGTGCCTAACACATTGTTTAGCCCCACGATAGCTCTATGAGGTGGGTATTACTGTTTACATTTCATGGATAAGAGGCCCCAAACAGGTTAAATGATGTGCCCAAGGTCACCAAGATGGTAAGGGTTCACCAGATCTGTCTCTAAAACCCAGCCCTGGCTACTACCCAACATTTCTGTGCTCACACCATCTGGCACTGTTTGGAACTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACA
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Task1_train_1964
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A variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Familial hemiplegic migraine
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CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
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CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCTGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
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Task1_train_1965
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Consider a variant on Chromosome 1 in gene ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2). Determine its clinical classification and disease relevance.
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Pathogenic; Migraine, familial hemiplegic, 2
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CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCCGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
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CTCAGTAATGACTGTGATTCTATTATGGGTGGTGGTTGAGCGCTGAAGGTTTCATGCTGGTTCCTTTTATTTTCTCCTACCATAAACAATGGCCACAATTCCTCACATGAGGTTGTTACAGTTTCTTAGTTTGGGGCTGGGGAGGGTGGGGAGAAGATGCCAAAGTGAAGTTAATAACACTTAAGATCCAAGGGAGAATAAAGTGAAAAGCCTGTTAGATAAATAAAGGTAACATGAAGGAAGGAGATTCCAGTAAGCTAAAAATACTAATGGAAAAAAAATGCAATTTGAAGAGAACAAGGAGCAGAGAGTCTAAGAAATTGGGTATAATTCTGGGGCCTGGGACTTGCTATGCACTGCAGGGATGACACACGAAGGTGGGAACATGGCCATAGTGGCTGCATCCAGCCCATCTTAGAGGCAAATGGGAAAAATGGCAAATGAAAATCAGGCTGGGTACAGAGGAAGAGTACTAATACCACCACAGGCCTCACCTTAGGTCCCTGGGCCACTGGGGATCCTCAGAGATGCTATTTGCCTTATTTTGAAAAGCTTTATGAAAATAAAGCACTCACCTATGCGAAGGCAACCAGGCTTACTAATGTGTCATTCTTAGGCAAAAGCCAAGAGCGCATATCATGACGTGGTGATCGGATGCTGATTCACAGTTCTGTCTGGAAGCCATGGATAGTTCTAATTAATTTTAAATGGGGAAATGTATTCAATACTTATTCACAAATGTAGCTTGAGAGACAAACAATTAAATGTGGCCTTTACAGAAGAAAATAAGGAGGTCCTTAGTGAGTGAAAATTTGGAAATCACTGGCTTGAACCAAAAAGAGGTACCTTGTGTAAGAATACAAAAGATGGAGTAGCCGGGGACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGAGAATCAATTGAGCCCAAGAGTTTGGTACTAGCCTGGGCACATGGTGAAACTCTATCTCTACAAAAAATATAAAAATTAGCAGGGCGTGGTGGCACACACCTGTAATTCCAGCTACTGGAGAGGCTGAGGCAAGAGGGTCACTTGAGCCCAAGAGGTGGAGGTTACAGTGAGCTGTGATCGTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAGAAAAAAAAAGTGGAGTAATAATGTGACTGAACATTTTCCAGGTCTGTCACTGAACATTTCAGTGACAGAACATTGCAGAGCTTTTCACGTGTTATCTCCCTTAATTTTCCCAGCAACCCTATGATAAAAAGGTAAAATCTCCATTTGATAGAGAAGGAACGTGAGGCTCAGAGAAATTCAACATTGCCTGCAACCCAAAGCTAGTCAATGGCAGAACTGGGAATAGACACCACCTGTCTGACTGCAGAAACTGCCCTGAGAACCTCCTTATTCTATCCTGCTTTTCAATTCTGATAAAGTGAACATATATTAACCACTTATTATGCAGTGATCCCCTTTACATTCTCTGAATTAAATATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGACGGTAGAAGACATACATGGGCCCTGCACTGAAGGAGCTTTCAAGCATCTTGCTGGGGAGACACACTTTCATGGGCCCTGTGCCTGGAGCAATAACAAGATCATGAGACAGGCCCCATGTTGACCACCGTGTCTCCAGTACAGAACACGTCACCCAACACCTAGAAACAATTATTTAATGAATGAATATACGTGCAATAGACAACATTCGGACGTAAACTCAGTAAGCAGAAAAACAAATAACATCTTCCTTTGGTTACATAAAGCATGAGAAGAGGCTGTTGGAAGAAGACATGCGACTATGTCGTTTAGAATTCTCTCTCCTCTTTCCCTTGCACCCCAGGGGTATCCCAGGATCTCTGCCTCCATGATCCCCCTTCACCTGCCACCTCCTTTCTTTGCCTTTCAGGAACAAGATCCTGATTTTTGGGCTCCTGGAGGAGACGGCGTTGGCTGCCTTTCTCTCTTACTGCCCAGGCATGGGTGTAGCCCTCCGCATGTACCTGCTCAAGTGAGTGTCTCTTTCGGGCGGCCTGAGTAGTCATACGGGGGGCCTTCAGCCCCCTCCAGGATCCAAGTTCTGATCGCTTTGAATGCTCCTTTATGTGACAGCCACCAAGCCAACCTCTGATGCTGCTGACACTCTCCTCCATTGCTTTCAGAGTCACCTGGTGGTTCTGCGCCTTCCCCTACAGCCTCCTCATCTTCATCTATGATGAGGTCCGAAAGCTCATCCTGCGGCGGTATCCTGGTGGTAAGCCCCTCCACATTCCCCCCAGCAAAGTGCAAGCCCCACCACCAGCTCCTCCCTCCAGGACCACACGCAGACTCCACTCCCACTACTGGTTCCTGCTTCTGTTCCTCAACACCCTCAGATCCTGGGGTCCCAGGTCCCAGGAGCCCTGACTCTTTCGAACCTGTTGTCTCTGCCCTCTTCCCATCAGATTCTAAACCCCGCCTAACTCACAGTTGGTCTCCGAGGCCCTCCACCTTCCACCTGAAACCACAGAACATCAGAATTAGAAGGGCCTTTCCAGGTCACCTAGTCCCACGTCCATATTTTACAGATAGAGGAGGCTCAGAGGTGAATCTGTTCAGGGTCGTAAAGCAAAGAATAGCAGGACTGGTACTAGAACCCAGGCCTCCTGATCCCCACTCATCAACCGACAAGTTATTGTTTTTCCTACAAGCGTTTTTTAATCACTTAGTAGAGGTTAAAATATGATGGCTTACAAACCAAATACTGTCCAGGAATACTGTTTGGTTTGACCTGTGCCATATTTTGTGTGTGTGGGGGGAGGAGGGTGGATTAATTGGTCCGATATAGAAAATTTAGGGTCTTTCACATAAAATCTGAATTCGACTTCTCCTGAAGATCAGAAGAGCTGTTAATCCCATGTCCACATCTCTGCACAGCAAGAATGGACAGCTGCTCCCTTAGACTCTCGTTCGTCACCTGAAGAGGCCCTGTGGGCGTTTGCATTTTCACCCTCGACCTATTCTGCCCCAGCCTCCAATGTGCTAAATACAAGTCTCCCCTAAAGGCAGGTTCACCCTCCCTTCCTTTAACCTATGGCCCCAGCTCACTGGACCTCCTTCTCCTCCCTTTCACCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAACCAGGAGTGCAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCAGAGTAGCTGGGATTGCAGGCGCATGCCACTATGCCCGACTAATTTTTTGTATTTTTAGTACAGACAGGGTTTCACTGGGTTAGCCAGGAGTCTTGATCTCCGCCTGCCTCAGCCTCCCAGTATGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCTCCTTCCACCTTCCTAAGCCACTTCCCCCAGTGCCCTTCACCAGGCTTCTCCTTCCACCTGGCTTCAGCGACCCAAGCCCCTAGGAAATTGATCTCTTGCCTCCTTTTAAGCTCATGCTGCAATCTCCACTCCCAATCTCTCTAACAGGCTGGGTGGAGAAGGAGACATACTACTGACCCCATTGGAAGAAGAACCAGGCATGGAAAGATGGGGAGCTCTGGAGGTGTTGTGGGGATGGTGATGGAGAGGGATGGAAATAACGGGTGGCATTGGGTGGCAACATTTGGGGAGAGATAATGAGGCAACTCAGCAGGCTAAGTTGCGGGGTATATAAATTGGGGTGATGACCCCATAGACCTAACTGTGAACAATCAGATTAGACACTATGTGTTAGAGTCCCCCCGACCAGATCCTTTTCCATCCCACTCCACTATGTTGTCTATTTTTTCTGAGGAATTAAGGGTTACCCCACCCTGCCCACTCCCATCCCTTCAACCCCACTTCCTACTGTAATAGATCAGCATCCAAAAGCAGGAACCCATCTAAACCAGAAGGAAGCCCTCTCAGATCACCCCAGCCTCACTCCATTTCCCACTTCCACCCCCGTTAGCTTCCTGCAGGACTCTATCCCTGGCT
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Task1_train_1966
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A sequence alteration has been identified in CASQ1 (calsequestrin 1) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; not provided
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ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACACAACAAACACACACCACACATGCACACACACCACATCCATGCCACGCAAATGCACACACCACACACGCCACACATGTACACACACACTACACACATGCACACACATCACACATATGCCACACATGCACACAATAGGCCACACATCACCTAGATACCACACACTATGCATATGCACCACATGCACACCACACACACAACACACACCACACACACCCATCCATACACACCACACACAACATATACATGCCACACACCCACCAGATATATCACATGCACACACACCGTACATGCGCACACACACACCACATGCACATACATACCTGCACACCACACATGCACACACTACACACATGCACACACCACATGCACACTCCACACGTACACACACCACACATTCACACACATCACACACATGCCACACATGTACACAGTAGGCCACACATCACCTACATACCGAACACTACACATATGCACCACATGCACACCACACTCATACCATCCACACACATCACACACACATCATATACATACCACACACCCACCATACATATATATCACATGCACACACACACCACACATGCACACCACACACTGCACACATCACACACTATACACACACACGCACATGCAATCCCCCACACACACACCCACACACTGTCAACATCTAGCCCCCTCCTCCAGTTCCCCAGCCTTCTTTTCCCTAGGTCCCTTTCTGGTTCTACTTGAGGATAGAAACTCTCTTCCTGCAATGTCCTCCTCTTTCAGGTCCTAGAGGACCCTGTGGAATTGATTGAAGGTGAACGAGAGCTGCAGGCGTTTGAGAATATTGAGGATGAGATCAAACTCATTGGCTACTTCAAGAGCAAAGACTCAGAGCGTGGGTAACCCTCAGACTCCACTGTGCCCCTCTCTGGATCCCCATCTCACCTGTCCTCCCACCTCCCCACATCACCCAGTGTCTCAGCCTCTACCTCTGCACTTCCCACCTCTTCCTCCAGCCGTGGTCAGCACCATCAACAGCTCTGACCTCCCTGTACTCTGGGGGTTCCCAGACAAGCACCTCCAGTATTCCACCTTCCCCTCACTCTCGAAGAACTAGAAGGGGTGGGTCTCAAAATGAACCCTGCCTGCAAAGAATTGGGGACGATAGTGGGGGATGATTCCCGGGCAGACCCTGGTTTCCCCAGAGACTGACTCTGCATTCCACCCCCCAGATTACAAAGCCTTCGAGGATGCAGCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAGGTTCTCCTCCCCGCAGCTGTATTGGTTCTGCCTCATGTCCTGAAGCTGTCCTCCAGTTTCCTCTCCCAGAATCGATGGCTGACCTGGTCCCTTCCTACGTGCTGGCACTCCCTACCTGCCCCCCCCCCCGGCTCCTCCCACTCCATAGATTTAGAGCTGAAGAGGGGCTTTAGATGATCTAACACCCCTCTCATGTTAAACCCAACCCCAGGCAAGTTAAGACACTTGTCAGGTGTCACAGTGGCAGTGACAAGGATCCCGGCTTTCTGACTCCCTTCCTAATATTTGTTCCCCCATTATACTGCTTCTCGACATGACCCTGTGTCTCCTGCTCCACTCCCCTCCTACCCCCTCTCCCAAAGGTGGCAAAGAAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGGAAGAGCCTGTGACCATCCCAGACAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGGAGGAGCACAGGAGGTGGGGACCAAGGGCAACCCTCTCAGCGGGGTCGGCTCCTCCTTGGGCTAGAACACACTGTGTGAGATGGGCTGGGGAAAGCTTAGCCAACCGGGAAGCCAATCTTGCCTGGAGATGAATACACTTTGGGCACCAGTGCTCTCTGATACACTGACAATTTTGCACAATATTTTATACCCCACTACTTAGCCCTGAGCCCTACACCGAGAGGGTCCTTCATAAGTGTGTATAATTCAGTGTGAGGTTGATTGAGACTTAAATAATCTCTGTCAACAAATGAGTGTTGACTGCCTGTGGTGGGGCAGGAACTGCAAGGTACTTTCCATCTCTATGATTATATTAAGTCCTTTTAACCTCAGTGAAAGTTTCTACAGGTAATAAGTGTCAGAGCTTTTAACCCTGATTTTAACCCTGATGTGTCCCATGTTTGTTCTTTTTTTCTTCTTCTTCTTTTTTTTTTTTTCTTCCGAGACCGAGTCTTACTCTATCCCCTAGGCTGGAGCACAGTGGCGCCATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAGGTAGCTGGAATTACAGGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATGCGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCATGTTCTTTCTAATACAATATCGTACACCAATGGTTCTCTACAAGGTGGGAAGGCGTGGCGAGGTGGGCATAGGTTTTTGCCCTCCAAAGGATGTTTGGCAATGTCTAGACACATTTTTGGTTGTGCAGAGTGCTACTAGTATTTAGTGGCTAGAGCCCAGGGATACTGCTAAACATTCTACAGTGCGCAGGACAGCCCCCTACTACAAAGAATTATCTGGCTCCAAATGGCAATAGTGCTGAGGTTGAATAATCCTGCCGGGCACTCACACATAATTCCCTTCCTTCATAGTAGTCCACAGCTGGAAATATCCAATCACTCTGTCCCCCAGGCTAGCGTGCAGTGGTGGATCACTGCAAGCTCCCTTGCAGTATATACAGTACTTACTCTCCCATACTACTGGCTCCCTTCATCAAGGCAGGAACATGCTTGCCTGGTTCAACTGTATGTACCCAGCACCTAGCATAGTGCTTAGAACATATCGGGCACTCAATCATAGTGAGTGAGTGAATGAATGAATAAATTAATGAATATCCTGATGTCCAGTTCTTGCCTTTCTCCCCCAGTCTCTCTTCCAGTCCCTTTGCCCACCCTCCCCTCTCCCACCGCTTTAACCATGCAATGAGCCGGGCCTGGTGCCCAGAGTTGAGGCCTTGCCAGATGGCTTTGTTGTAGGCTACAAGCTGTCTGTGCCCTGGGCCTGACCTAGAGGCAGCCTTTGCTACAGGACCCTCTGGAGGGGGCATCCTTCTAACCCACTGAGTAATGACACTCTGTCTGTCTCTTCTAGATCAACCCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGGGTGAGTGCCCCTGGCCAGGGTCAAGCCCTCAGGGAAGCATGGGTGCCAGAAGACTCAAGTCCTAGAAAAACCCCACCCTACTGCTCCTCAGGCCCATTTTTAGAAAAAACAGTGCACTGACCAGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAAAATAGCAGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGCTTGCAGTGATCCGCCACTGCACACCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAA
|
ACTGCACACACACACCACACACACACACATACACCACACGCACACACACCATACATACACCACACGCACACACACCATACATACACACACACACCACCTGCATACACACCACACATATGCATGCACATGCACACAATAGTTCACAAATCACCTACACACCACACACTACACATAGGCACCACATGCACACCACACACACTACACACACCACACACACATCATATACATACCACACACCCATCACACACATATCACATGCACACACACACCACATGCACACCACACACTCCACACACATCACACACCACATGCACATACACAACAAACACACACCACACATGCACACACACCACATCCATGCCACGCAAATGCACACACCACACACGCCACACATGTACACACACACTACACACATGCACACACATCACACATATGCCACACATGCACACAATAGGCCACACATCACCTAGATACCACACACTATGCATATGCACCACATGCACACCACACACACAACACACACCACACACACCCATCCATACACACCACACACAACATATACATGCCACACACCCACCAGATATATCACATGCACACACACCGTACATGCGCACACACACACCACATGCACATACATACCTGCACACCACACATGCACACACTACACACATGCACACACCACATGCACACTCCACACGTACACACACCACACATTCACACACATCACACACATGCCACACATGTACACAGTAGGCCACACATCACCTACATACCGAACACTACACATATGCACCACATGCACACCACACTCATACCATCCACACACATCACACACACATCATATACATACCACACACCCACCATACATATATATCACATGCACACACACACCACACATGCACACCACACACTGCACACATCACACACTATACACACACACGCACATGCAATCCCCCACACACACACCCACACACTGTCAACATCTAGCCCCCTCCTCCAGTTCCCCAGCCTTCTTTTCCCTAGGTCCCTTTCTGGTTCTACTTGAGGATAGAAACTCTCTTCCTGCAATGTCCTCCTCTTTCAGGTCCTAGAGGACCCTGTGGAATTGATTGAAGGTGAACGAGAGCTGCAGGCGTTTGAGAATATTGAGGATGAGATCAAACTCATTGGCTACTTCAAGAGCAAAGACTCAGAGCGTGGGTAACCCTCAGACTCCACTGTGCCCCTCTCTGGATCCCCATCTCACCTGTCCTCCCACCTCCCCACATCACCCAGTGTCTCAGCCTCTACCTCTGCACTTCCCACCTCTTCCTCCAGCCGTGGTCAGCACCATCAACAGCTCTGACCTCCCTGTACTCTGGGGGTTCCCAGACAAGCACCTCCAGTATTCCACCTTCCCCTCACTCTCGAAGAACTAGAAGGGGTGGGTCTCAAAATGAACCCTGCCTGCAAAGAATTGGGGACGATAGTGGGGGATGATTCCCGGGCAGACCCTGGTTTCCCCAGAGACTGACTCTGCATTCCACCCCCCAGATTACAAAGCCTTCGAGGATGCAGCTGAGGAGTTTCATCCCTACATCCCCTTCTTCGCCACCTTCGACAGCAAGGTTCTCCTCCCCGCAGCTGTATTGGTTCTGCCTCATGTCCTGAAGCTGTCCTCCAGTTTCCTCTCCCAGAATCGATGGCTGACCTGGTCCCTTCCTACGTGCTGGCACTCCCTACCTGCCCCCCCCCCCGGCTCCTCCCACTCCATAGATTTAGAGCTGAAGAGGGGCTTTAGATGATCTAACACCCCTCTCATGTTAAACCCAACCCCAGGCAAGTTAAGACACTTGTCAGGTGTCACAGTGGCAGTGACAAGGATCCCGGCTTTCTGACTCCCTTCCTAATATTTGTTCCCCCATTATACTGCTTCTCGACATGACCCTGTGTCTCCTGCTCCACTCCCCTCCTACCCCCTCTCCCAAAGGTGGCAAAGAAGCTGACCCTGAAGCTGAATGAGATTGATTTCTACGAGGCCTTCATGGAAGAGCCTGTGACCATCCCAGGCAAGCCCAATAGCGAAGAGGAGATTGTCAACTTCGTGGAGGAGCACAGGAGGTGGGGACCAAGGGCAACCCTCTCAGCGGGGTCGGCTCCTCCTTGGGCTAGAACACACTGTGTGAGATGGGCTGGGGAAAGCTTAGCCAACCGGGAAGCCAATCTTGCCTGGAGATGAATACACTTTGGGCACCAGTGCTCTCTGATACACTGACAATTTTGCACAATATTTTATACCCCACTACTTAGCCCTGAGCCCTACACCGAGAGGGTCCTTCATAAGTGTGTATAATTCAGTGTGAGGTTGATTGAGACTTAAATAATCTCTGTCAACAAATGAGTGTTGACTGCCTGTGGTGGGGCAGGAACTGCAAGGTACTTTCCATCTCTATGATTATATTAAGTCCTTTTAACCTCAGTGAAAGTTTCTACAGGTAATAAGTGTCAGAGCTTTTAACCCTGATTTTAACCCTGATGTGTCCCATGTTTGTTCTTTTTTTCTTCTTCTTCTTTTTTTTTTTTTCTTCCGAGACCGAGTCTTACTCTATCCCCTAGGCTGGAGCACAGTGGCGCCATCTTGGCTCACTGCAGCCTCCGCCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAGGTAGCTGGAATTACAGGCACGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCTGGCTGGTCTCAAACTCCTGACCTCAAGTGATGCGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCATGTTCTTTCTAATACAATATCGTACACCAATGGTTCTCTACAAGGTGGGAAGGCGTGGCGAGGTGGGCATAGGTTTTTGCCCTCCAAAGGATGTTTGGCAATGTCTAGACACATTTTTGGTTGTGCAGAGTGCTACTAGTATTTAGTGGCTAGAGCCCAGGGATACTGCTAAACATTCTACAGTGCGCAGGACAGCCCCCTACTACAAAGAATTATCTGGCTCCAAATGGCAATAGTGCTGAGGTTGAATAATCCTGCCGGGCACTCACACATAATTCCCTTCCTTCATAGTAGTCCACAGCTGGAAATATCCAATCACTCTGTCCCCCAGGCTAGCGTGCAGTGGTGGATCACTGCAAGCTCCCTTGCAGTATATACAGTACTTACTCTCCCATACTACTGGCTCCCTTCATCAAGGCAGGAACATGCTTGCCTGGTTCAACTGTATGTACCCAGCACCTAGCATAGTGCTTAGAACATATCGGGCACTCAATCATAGTGAGTGAGTGAATGAATGAATAAATTAATGAATATCCTGATGTCCAGTTCTTGCCTTTCTCCCCCAGTCTCTCTTCCAGTCCCTTTGCCCACCCTCCCCTCTCCCACCGCTTTAACCATGCAATGAGCCGGGCCTGGTGCCCAGAGTTGAGGCCTTGCCAGATGGCTTTGTTGTAGGCTACAAGCTGTCTGTGCCCTGGGCCTGACCTAGAGGCAGCCTTTGCTACAGGACCCTCTGGAGGGGGCATCCTTCTAACCCACTGAGTAATGACACTCTGTCTGTCTCTTCTAGATCAACCCTGAGGAAACTGAAGCCGGAGAGTATGTATGAGACCTGGGTGAGTGCCCCTGGCCAGGGTCAAGCCCTCAGGGAAGCATGGGTGCCAGAAGACTCAAGTCCTAGAAAAACCCCACCCTACTGCTCCTCAGGCCCATTTTTAGAAAAAACAGTGCACTGACCAGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTGAAAATACAAAAAAAATAGCAGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGCGGAGCTTGCAGTGATCCGCCACTGCACACCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAAAAAGAAA
|
Task1_train_1967
|
Gene DCAF8 (DDB1 and CUL4 associated factor 8), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
|
ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGACCAAGATTTGTTATAATAATCTTTAAGACAAACAAGACAATAAACGATCTAGATATCTATCAATAAGGTAAAGGTTAAATAAACTGTGGTACACCAATGCTATGACATTTCTCTCATGGTTAACAACAAGGTAGCTTTTATGGTCCAACACAGAAAAATCTCCCACATTGTAACATGAAATAAGCAAACTGCAGAAACATACATATATGTTTATATATACATACAAGTATACTTATGGGGAGAAAGGAGAAAGTGTATATATGTATTTAGGTACAAAATGTATACAAAAGGGACTAAAAAGGTGTTCAAAATTACTTACAATGATTTTTTTTTTTTTTCTGAGATGGAGTTTTGCTCCGTCACTCAGGATGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGGTTACAGGCACATGCCAACATGTCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTTGCCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCTGCCCACAATGGTTTTCAACAGCTAAAAAAATGGTGGGGCGGGGGTGACTGAGGGAGCATTTACATTTTGTCTGTATACTTTATTACTTGAATCTCTTAAACAAGAAGTATTTGTTTATTGTAAGAGCAATAAAAATGAAAAAAGAAACTAAAATAATTATAATTATAAGCTAAAACTTAATCAATTTCAGCCATGGTGTTAAACATTATGCTGAGGCATCACACACAAACACACACACACATACATACACGTACGTATATATATACATACATATATACGTGTGTGTATATAAATACATATGTGTGTATATGTGTGTACATATGTGTGTATATAAACATATATGTGTGTGTATATATGTGTACATGTGTATATGTGTGTGTATATATGTGTGTGTGTATGTGTGTGTGTGTGTATATATATATATATCCTCACAGAAACTACTAGAGAGGGAAGGACGGAGGGAGGGAAAAAAATATGCCCATAGCAAGGCTGAAGAAAATGAGGTTCAGAAGGTTATGTAAGTCATAACTAGTAGTGCCTGATTTGAGATTTGACCTAGGTCTGCCTGGATCCAAACAAGATGTTGTGTTTTTTCTATGATACCACACAGTTAAAAAGGAATAAAATTTACCTATGAGTCTCAGATTCACATACAAATGAACTGTGATAAAACAGAACTCAACTACAGCTACCAGTATTTTTGTTCAAATTTTATGTTTGTATGTTTCTATAAATAACTAAATTAAAAATGTATTTAAATTTAAAATTTACAGGACTGTACCTCTACATGAGTCTGTGGAAGAATGTGCTTTCTGTGGGTAAGATGAATGATATCCAAGTGAATAAAGAGCAAAAGATCATCAAATTATTAAAGGCCACATATAACAAGTAAACTGTTTGAGAAATGAAGGTAGACTGAATAGTATTTCACTACTGAGAAAGAGAGGAAGTAAGGAATTCCCCTTAACCTTAAACTACCTCTTAACCATAGGCACAAAGGTACTATTCGGATGAACCAGAGTTAGGCATTACCAAGACATATGGAATATGTTCAAGGCTAAGAGATACAGTTCTGTAATGATATTACTGCTACACTTACGACGCTGGGCGGTCTTGTCTCAGGTCAATGGTGAAAACAACTGCATCTTCACCTGCAGATAAGAACGTACAGGGAGAGTCTGGTTCCAGTGCCAACTGAAGAAGAAAAAGGAAAAACATGAGGTTTCTAAATATTAGAATTAGAGGTCATCTAGTTCATTCCTATAACTTTGGGAAGGGCTGCACTTAAAATGTTCCAAAAAGAGAAATGTCTACCTTTTTGTCATAAAATCCCAGGAAAGGACATAATCTAAGCCCACTTACTCTTGTTCTATGCGAATTATTTATAGTTTTGTTTATTCTATAACTAGTCAAAGGACAGTTGATTTGCTATTTCAACTAAGTCCTCAAGAGATATGAACAGATAGCAAAGAAAAACATCAGCCATTAGAGTTCATTTTCTTTTTTTTCCAGTCAGGGTCTCACTTTACCACCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCACTAAAGCCTCAACCTTGTGGGCTTAAGTGATCCTCCCACCTCAGCTGCCCAAGTAGCTGGGACTAGAGGCACAAGGCACTATACCTGGCTAATTTTTTCGCTTTTTTTTTGTTTGTTTTCCACAGATGGGGTCTTGCTATATTGCCCAGGCTGGTCTTTAACTGCTGGCCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAGTATTGGGATTACAGGCATAAGCCACCACACCCAGCAACAGTTCATTCTCGAATAAAATCAATTCCATACCCTTAAGTGCAGAGAGAAATGGTGTCCAACTTCATTCCTTACATCTTAGTTCCTTACAACTGAAAATCAGTTAACTAGTGGGTTAGGAGTAGACTTAAGAATCAAAGAAATAGGTAATTTTCACATATCCTGGGCCGCCTTGGCTAGAAAAGGATACTCCAGGTCCACCTATATTTTTGCTTAGGGTTTCTAAGAGAGTACCAACCTCTTTTCATGGCACAAAAGACCAACACCATGCCTACCTTAAAACTGGCAGCTCTTAACTCCTTGTTAGCTGCCACCATGGATTATTTGGCCTATATTCCCAGCTTTAAATAGGGCTTCCAGAAACAGTGCTATTTGTGAACTGAGAGTTTGAGCAGGTAAGCTGAAGCTCTCACACAAGAGGAATAAACCACTAGCACCTTGAAACTGTCAAAATACCCTAAAAAATCACAATAAATGTAAAAGGTTTAGAGGGCACAGGAGACCTCAAAGATCTCCAAACCAACTAGGGCTTAGCTTAGGGGCCAAATACTATGAATGCATGATCTAGGGACTTTTCAGATACTTGCCTTCCTAGGAGTTTAGGGTGGCTGCTTTTGCTCCTTTCTTAACCACAAATCTTAGGACTGAAAGAGGTGAGGCACATGACCACAACAAATGTGACACAATGGGCAGAGATAAGGGAGAACCTTGGCTGAGAACCACAGAGGATTTGGATTGCACAAATTTTGGAGCAAGGTCTTACTTACCTTGTGGGACGCTCCCTTGTGCTGGGCCACACGTTTTGTATTCTTGCAACACTGTGTGGCAGACAGTTCTGCTACTCGAACCTGCCCGTCACGGGCACACATGGCCAGAGTAGAATCACCACTGTTAGGAAGAAACTTGGCCTGGGGTGTTAAAAATGAAAAAAAGGACACACAAAAGAAATGAGAGAGGTAAACTTGAGAATAAAAAATACGATGATGACCTCAACTTACCCCCTTTTCTTACATGACAGCTGGAAACTTAGCTTTCCTACTCTTGTACAGCTGGCTAAGCCCAATTTCTTCCAGGAGTTAAAGGAAAGGGAGAGAAAAAACTTCCTTTGATGTAAGAGAGCATTTCAGTTGGCTCTGGAAGATTGAACTGGCACATGATAAGAGCTCAGATGAACTAGGACTGTATCTAGCAGAGGAGAAAAGGAATAGAGGAGGAAAAATCTACTTTGATTAAGAAAGTAAATATAAATTTGCTACAAAGAAAAAGGAAAATAGGGGGAATGTCAGGGAAGAAAAGAGAACACCCTTAGGATAAATGGCTGGTACCAGTACAGTAGATGGGGCCAAGGAGTAA
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ACTCAATACTGGTACTGACCTATAAGATCTGTTATAATAATTTTGGTTTTTTTTTTTGAGACAGTCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCTGGGCTCAAGCGATTCTCCTGTCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGTGCCACCACACACGGCTAATTTTTGTATTTTCAGTAGAGACGAGGTTTCACCATGTTAGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACAAAGTGCTGGGGTTACAGGCATGAGCCACTGCACCTGACCAAGATTTGTTATAATAATCTTTAAGACAAACAAGACAATAAACGATCTAGATATCTATCAATAAGGTAAAGGTTAAATAAACTGTGGTACACCAATGCTATGACATTTCTCTCATGGTTAACAACAAGGTAGCTTTTATGGTCCAACACAGAAAAATCTCCCACATTGTAACATGAAATAAGCAAACTGCAGAAACATACATATATGTTTATATATACATACAAGTATACTTATGGGGAGAAAGGAGAAAGTGTATATATGTATTTAGGTACAAAATGTATACAAAAGGGACTAAAAAGGTGTTCAAAATTACTTACAATGATTTTTTTTTTTTTTCTGAGATGGAGTTTTGCTCCGTCACTCAGGATGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGGTTACAGGCACATGCCAACATGTCCAGCTAATTTTTGTATTTTTAGTAGAGGTGAGGTTTTGCCATGTTGGCTAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCTGCCCACAATGGTTTTCAACAGCTAAAAAAATGGTGGGGCGGGGGTGACTGAGGGAGCATTTACATTTTGTCTGTATACTTTATTACTTGAATCTCTTAAACAAGAAGTATTTGTTTATTGTAAGAGCAATAAAAATGAAAAAAGAAACTAAAATAATTATAATTATAAGCTAAAACTTAATCAATTTCAGCCATGGTGTTAAACATTATGCTGAGGCATCACACACAAACACACACACACATACATACACGTACGTATATATATACATACATATATACGTGTGTGTATATAAATACATATGTGTGTATATGTGTGTACATATGTGTGTATATAAACATATATGTGTGTGTATATATGTGTACATGTGTATATGTGTGTGTATATATGTGTGTGTGTATGTGTGTGTGTGTGTATATATATATATATCCTCACAGAAACTACTAGAGAGGGAAGGACGGAGGGAGGGAAAAAAATATGCCCATAGCAAGGCTGAAGAAAATGAGGTTCAGAAGGTTATGTAAGTCATAACTAGTAGTGCCTGATTTGAGATTTGACCTAGGTCTGCCTGGATCCAAACAAGATGTTGTGTTTTTTCTATGATACCACACAGTTAAAAAGGAATAAAATTTACCTATGAGTCTCAGATTCACATACAAATGAACTGTGATAAAACAGAACTCAACTACAGCTACCAGTATTTTTGTTCAAATTTTATGTTTGTATGTTTCTATAAATAACTAAATTAAAAATGTATTTAAATTTAAAATTTACAGGACTGTACCTCTACATGAGTCTGTGGAAGAATGTGCTTTCTGTGGGTAAGATGAATGATATCCAAGTGAATAAAGAGCAAAAGATCATCAAATTATTAAAGGCCACATATAACAAGTAAACTGTTTGAGAAATGAAGGTAGACTGAATAGTATTTCACTACTGAGAAAGAGAGGAAGTAAGGAATTCCCCTTAACCTTAAACTACCTCTTAACCATAGGCACAAAGGTACTATTCGGATGAACCAGAGTTAGGCATTACCAAGACATATGGAATATGTTCAAGGCTAAGAGATACAGTTCTGTAATGATATTACTGCTACACTTACGACGCTGGGCAGTCTTGTCTCAGGTCAATGGTGAAAACAACTGCATCTTCACCTGCAGATAAGAACGTACAGGGAGAGTCTGGTTCCAGTGCCAACTGAAGAAGAAAAAGGAAAAACATGAGGTTTCTAAATATTAGAATTAGAGGTCATCTAGTTCATTCCTATAACTTTGGGAAGGGCTGCACTTAAAATGTTCCAAAAAGAGAAATGTCTACCTTTTTGTCATAAAATCCCAGGAAAGGACATAATCTAAGCCCACTTACTCTTGTTCTATGCGAATTATTTATAGTTTTGTTTATTCTATAACTAGTCAAAGGACAGTTGATTTGCTATTTCAACTAAGTCCTCAAGAGATATGAACAGATAGCAAAGAAAAACATCAGCCATTAGAGTTCATTTTCTTTTTTTTCCAGTCAGGGTCTCACTTTACCACCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCACTAAAGCCTCAACCTTGTGGGCTTAAGTGATCCTCCCACCTCAGCTGCCCAAGTAGCTGGGACTAGAGGCACAAGGCACTATACCTGGCTAATTTTTTCGCTTTTTTTTTGTTTGTTTTCCACAGATGGGGTCTTGCTATATTGCCCAGGCTGGTCTTTAACTGCTGGCCTCAAGCAGTCCTCCCACCTCAGCCTCCCAAAGTATTGGGATTACAGGCATAAGCCACCACACCCAGCAACAGTTCATTCTCGAATAAAATCAATTCCATACCCTTAAGTGCAGAGAGAAATGGTGTCCAACTTCATTCCTTACATCTTAGTTCCTTACAACTGAAAATCAGTTAACTAGTGGGTTAGGAGTAGACTTAAGAATCAAAGAAATAGGTAATTTTCACATATCCTGGGCCGCCTTGGCTAGAAAAGGATACTCCAGGTCCACCTATATTTTTGCTTAGGGTTTCTAAGAGAGTACCAACCTCTTTTCATGGCACAAAAGACCAACACCATGCCTACCTTAAAACTGGCAGCTCTTAACTCCTTGTTAGCTGCCACCATGGATTATTTGGCCTATATTCCCAGCTTTAAATAGGGCTTCCAGAAACAGTGCTATTTGTGAACTGAGAGTTTGAGCAGGTAAGCTGAAGCTCTCACACAAGAGGAATAAACCACTAGCACCTTGAAACTGTCAAAATACCCTAAAAAATCACAATAAATGTAAAAGGTTTAGAGGGCACAGGAGACCTCAAAGATCTCCAAACCAACTAGGGCTTAGCTTAGGGGCCAAATACTATGAATGCATGATCTAGGGACTTTTCAGATACTTGCCTTCCTAGGAGTTTAGGGTGGCTGCTTTTGCTCCTTTCTTAACCACAAATCTTAGGACTGAAAGAGGTGAGGCACATGACCACAACAAATGTGACACAATGGGCAGAGATAAGGGAGAACCTTGGCTGAGAACCACAGAGGATTTGGATTGCACAAATTTTGGAGCAAGGTCTTACTTACCTTGTGGGACGCTCCCTTGTGCTGGGCCACACGTTTTGTATTCTTGCAACACTGTGTGGCAGACAGTTCTGCTACTCGAACCTGCCCGTCACGGGCACACATGGCCAGAGTAGAATCACCACTGTTAGGAAGAAACTTGGCCTGGGGTGTTAAAAATGAAAAAAAGGACACACAAAAGAAATGAGAGAGGTAAACTTGAGAATAAAAAATACGATGATGACCTCAACTTACCCCCTTTTCTTACATGACAGCTGGAAACTTAGCTTTCCTACTCTTGTACAGCTGGCTAAGCCCAATTTCTTCCAGGAGTTAAAGGAAAGGGAGAGAAAAAACTTCCTTTGATGTAAGAGAGCATTTCAGTTGGCTCTGGAAGATTGAACTGGCACATGATAAGAGCTCAGATGAACTAGGACTGTATCTAGCAGAGGAGAAAAGGAATAGAGGAGGAAAAATCTACTTTGATTAAGAAAGTAAATATAAATTTGCTACAAAGAAAAAGGAAAATAGGGGGAATGTCAGGGAAGAAAAGAGAACACCCTTAGGATAAATGGCTGGTACCAGTACAGTAGATGGGGCCAAGGAGTAA
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Task1_train_1968
|
A variant on Chromosome 1 in gene PEX19 (peroxisomal biogenesis factor 19) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Peroxisome biogenesis disorder 12A (Zellweger)
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CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAACGTTATACCTCTTATACCCCAACATACCGTGTGACAGCTTTATTCTCTCAGAGACACAACTCTCCCCAACCCCCAACTCTCCCTGCCTCAAATAAATAAAGAAGGAAAAAAAGCACACTCGAGTTACTCTTTCTGCAGGCTCTGAGTAGACAAAATAGCCCACATCAGTTGATGTGATGGAAAATGAAGAGAAAAAGCAGAAATGGAAGTTCACAAACCTTTTCTGTGATCTCCTTCAGTGATGGGTACAGCACATCCTTGGAGAGTAGGTTCTGCATAATACTCTGCATGATGGGGAGGATGTTCCCTTCCCCATCCCCTTCGTCCATGCCTAGCCCCTCCATGGCCTTGGTCAGCTCTTCTTCCGACATGCTGGAGTTCTAGATAGGACAAGTAAGAGGTGAGCAGGTATACTACCTTCTTGGGATGCTCACCACTCTCTCAGGTGACAAAGATAAACTATCTAAACTTGCCTGTAACAAACAATAAGACAGCAACAGACTTGGGATGATACTCAAAGCATCTGTCTTTTGAGACTCTGCTGGAGAAATGTCTGGGAGTGGACCCCTTGTGGGCCCCTACTACTTTCTCCTCACCTGAAGGTCAGTGGCATTTTTGGCTAATCCACTTAGTGTTTCCTTTAGGCAAGAAGTGAATTCTTGTTGGGAGGTCATATCACTGCCTAGGAGAGATTAAAAAAGCCAGCGTCATTTAGGAGTTTGTTTCCTTGCCTAGACTGAACTGGTTAACAGCTTGGATATGAAGCATTTACTAGTGAATCATTATCACTCCCAATCTTGGAAAACCCTATGGTTATCTTCATAGTCTTTTCATAAATCTATTTAGTACACGGACTCTGCATCAGTTTATTCTCCATGATGATACCCACAATAACACTGTGACCTTTCAAATGGTCAGTTTTGAATAATGTTTTCTATTACTTTCCAACCTATCTCACCCCTTTTCATTAACAGGGATTCCCATCCTTTCTCTCATTGCCTTTACCCGTTCCTTGGCTGTGACATCATGATTGCTATCAACTTCACTAAGAATTCTGGTGTTTTCAGGCAACAAAGACTTAAGAGTCTGTTCAGATATTTCCATGTATCTGGGGTCTCCTCACCCACTCTCCCTGCAGCCTCTGAGAGCTTTTGGAACTGCTCCACCAGGTGGGGTTCTTCCTCAGCCAACTCCTTCATTGCCTTCTCGAACTCCGCAGTGGCTTGGGAAGCCAGTTCACTGTCGAATAGTTCCTGGAAAAACTTCTCTTGGGAAGCGAAGAGGGCATCCTGCGGGGGAAGGATGGCTGAAATGCGTCTCTTACTTAGGACTACACTGCACCTGGCCTCTGATAGAAGCCACAGGCAGTGGCTATGGGAAATGCACCTCCCTCCTACCCAATTCCACTGGACATTCTAACTACTGCTCCTAATGAGGATAGCAAAAAAGGTATCTAGTCATTGAAGGAGGGTATGGGATGGCATACCAATCCAACCATTTAAACCTACTATTTTTTCAAGGAACTCTGAGATTCCCCCACTCAACCTCAAGTCCTTATTTCACAAGGACTGAGGCTGGCAAGAGCACTCACCAATGTGAGGCCAAGGTACCCTCCCACATTCCCCTCTGGCCCATAGGGGCCTGCCCAACCTCTGCTCAGGGCTGCATGCCCATCCCCTCCCCATCCCTTAAGGGGGTGGAATTTATACTTTGGCAGTGTCTCCTGGCGATCTCTTCTGGGGCCCCGAAGCATCAGGGGCCGTGGTGGTAGAAGGGGGTGCTGGGGAGGGTTTGGCTTTATCGAAATCATCAAGAGCACCTTCAGAGACAAGAGACATGGTGTGTGTGTTGGCGACAGATGAGAATGCAAGCAAGGCTGGGTGGTTTCTGGGCAAAGCATTAGGAATATGATTTTTCAAATTGCCAACTTTCCTCAATTTTCCTCCTTGAGTCCCCCACCTCCCCAGACCACCCTCAATGAGCCTCCTACTTCCTTCTGGATTACCTAATTTATTGTGAGCAAAGGCAAAGAAATCCCTTAAGGTGGAACAAATGTCCATCTCAGAGCTGGGAGGAGAGGATTAAAAAGTTCTGCAGAGACATCTCCATCTATAGTGTCTCCCTTGCCACACCCTAACGATTCCCTAGAAATCCCATACAAATACCCAACAGTAGTAGAGAACACAGATGTCCTCATCCCTCTGAACTCACTCTGGAGCTCTAAAAGGAATAACTTGGTGAGAAAGCACAGGACATCCCACCCAGCTTCCTGTTGGTACTGGTACCAGCACAGACTGAGGGACTACATACCAGACTCCATGGTACGGCATTAAACTATCTTCTCTTATTCTCCAGTTTAGTGCTCCCCAACAACCTTCTAGAGCTCCCTTTGGCCTGATCTCTGCAGATAACCGTACACTAATTTACACAGTCACTTGGCACTCCTCAGGGTTTCTGTTCATTTTTCTGCCTGCCCACATCTCCGTGATTGAGCAAGCGATTACAAATTCACCTCTGCCCTGAAAAGCCTGTGTCCTCACCACCATTCTGTTCGCCAGGCCTAGGGAGAGAGCACTGGCCCTACTCTGGGCAGGAAGTCAACAGGGGAGTGGAGAGTAATGCTAAGAAAACATCCCCCGTCTTTCAGGAGGGTGAACTGCTTTCCCCTGAAATCGCCACATCCTCAGTTTCTCAAAATAAGGGAAAGGAGTCCGCTTGAGCTACTGACAAGATGAAAGAACTGTTAAGGGGCCTAACGAGAGAAAGAGAAAAGGACTAGGAGGAGAAAAGTGTCTTTCGTGTTAAGGAAGACAGGACGAGGCACACAAGGACCGGCCACGAGCTTGCTAGGAGTTAATGTAAGCAATCAGTGAGTGCGTAGTTCGCTACCCAGCAAGAACCAAATGCTGCTGCTGCTGCTACTGCTGCTGAAGTCGAACTTTAAGAACTCAGTAACCTAAAGAGGAGTTTGAAGAGGTATCATGAAACGCCGTCCTGCGGAAACATCCACCATCCGGACCACTGAGGGACCCCAGGTGAGCTCCCCAGCTCCAGTCGCCGGGGTGGGGCAGGATGACCCAGAGATTTTTGGGGGGCTCGGGGGTCAGACTCTCCGCCCCCATTTAACCTTTGGAGAGCCTCTCCTGCCCGTCCCTAATATCTCAGGTTCACTTAACCCCCAGAATGGGTCCTCACACGTGCCCTCTTCGGGCCTTTCCCACTATGGGCTCTTACTTTCCAGAAGCTCCTCCAATTCCCTGTCCGCTTCGGCCCCGACACTACAGCCTTCCTCAGCGGCGGCCATCTTGCTACCTCCGACTTGCCGTAGGAGGCGGGACCTCCTCGGTGCCGACACGCCCTCCACCCCTTCGCTCCCGCCCTCTTCTGCCTCGGGTAACCAATGGTATTGTTGACCAGTGCGGAACCGCCATTTTTAAAGGGCCAGGAAGCTTTGAGTGTTTGTGTTTTGGGTATTTTTCCCTTTTCTCCTGTGAAACAGAATTAGGGATAAGATAGGGTTATTTTCTGTCTGGTTTTAGAGGCCCGGACTCCTTTCTTTCAACTTCCCAAATTACCTGGCGAAGCTCTTTCATTATTTTTTCCTGAGCTGTGAGTAGGCCAGATTGAGACAAACTGCCTACAAATAACCAGAATCTAAACATATATAATTGATATGACAATTATGGCACATAACATACTACTTTCTCTCACTTCATTTTTTTTTTTTTATTTTTTTTTGAGAAGGAATCTTGCTCTGTCGCCTACGCTGGAATGCA
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CAGGTTCAAGTGATTCTCCTGCTGCCTCCTGAGTAGTTGCGATCACAGGCGTGAGCCACTACGCCAGGATAATTTTTGTATTTTTACTACAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAGGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCCAAATTCTTGCTGGAGAAATGAAGTCAGAAATGCAAGATTGATCAGACAACAATCCCAGAGTCTTGAACCAGTTTATAGAAAACTAGAACTGAAGGATTTCCTCTTAGACCCCAAACGTTATACCTCTTATACCCCAACATACCGTGTGACAGCTTTATTCTCTCAGAGACACAACTCTCCCCAACCCCCAACTCTCCCTGCCTCAAATAAATAAAGAAGGAAAAAAAGCACACTCGAGTTACTCTTTCTGCAGGCTCTGAGTAGACAAAATAGCCCACATCAGTTGATGTGATGGAAAATGAAGAGAAAAAGCAGAAATGGAAGTTCACAAACCTTTTCTGTGATCTCCTTCAGTGATGGGTACAGCACATCCTTGGAGAGTAGGTTCTGCATAATACTCTGCATGATGGGGAGGATGTTCCCTTCCCCATCCCCTTCGTCCATGCCTAGCCCCTCCATGGCCTTGGTCAGCTCTTCTTCCGACATGCTGGAGTTCTAGATAGGACAAGTAAGAGGTGAGCAGGTATACTACCTTCTTGGGATGCTCACCACTCTCTCAGGTGACAAAGATAAACTATCTAAACTTGCCTGTAACAAACAATAAGACAGCAACAGACTTGGGATGATACTCAAAGCATCTGTCTTTTGAGACTCTGCTGGAGAAATGTCTGGGAGTGGACCCCTTGTGGGCCCCTACTACTTTCTCCTCACCTGAAGGTCAGTGGCATTTTTGGCTAATCCACTTAGTGTTTCCTTTAGGCAAGAAGTGAATTCTTGTTGGGAGGTCATATCACTGCCTAGGAGAGATTAAAAAAGCCAGCGTCATTTAGGAGTTTGTTTCCTTGCCTAGACTGAACTGGTTAACAGCTTGGATATGAAGCATTTACTAGTGAATCATTATCACTCCCAATCTTGGAAAACCCTATGGTTATCTTCATAGTCTTTTCATAAATCTATTTAGTACACGGACTCTGCATCAGTTTATTCTCCATGATGATACCCACAATAACACTGTGACCTTTCAAATGGTCAGTTTTGAATAATGTTTTCTATTACTTTCCAACCTATCTCACCCCTTTTCATTAACAGGGATTCCCATCCTTTCTCTCATTGCCTTTACCCGTTCCTTGGCTGTGACATCATGATTGCTATCAACTTCACTAAGAATTCTGGTGTTTTCAGGCAACAAAGACTTAAGAGTCTGTTCAGATATTTCCATGTATCTGGGGTCTCCTCACCCACTCTCCCTGCAGCCTCTGAGAGCTTTTGGAACTGCTCCACCAGGTGGGGTTCTTCCTCAGCCAACTCCTTCATTGCCTTCTCGAACTCCGCAGTGGCTTGGGAAGCCAGTTCACTGTCGAATAGTTCCTGGAAAAACTTCTCTTGGGAAGCGAAGAGGGCATCCTGCGGGGGAAGGATGGCTGAAATGCGTCTCTTACTTAGGACTACACTGCACCTGGCCTCTGATAGAAGCCACAGGCAGTGGCTATGGGAAATGCACCTCCCTCCTACCCAATTCCACTGGACATTCTAACTACTGCTCCTAATGAGGATAGCAAAAAAGGTATCTAGTCATTGAAGGAGGGTATGGGATGGCATACCAATCCAACCATTTAAACCTACTATTTTTTCAAGGAACTCTGAGATTCCCCCACTCAACCTCAAGTCCTTATTTCACAAGGACTGAGGCTGGCAAGAGCACTCACCAATGTGAGGCCAAGGTACCCTCCCACATTCCCCTCTGGCCCATAGGGGCCTGCCCAACCTCTGCTCAGGGCTGCATGCCCATCCCCTCCCCATCCCTTAAGGGGGTGGAATTTATACTTTGGCAGTGTCTCCTGGCAATCTCTTCTGGGGCCCCGAAGCATCAGGGGCCGTGGTGGTAGAAGGGGGTGCTGGGGAGGGTTTGGCTTTATCGAAATCATCAAGAGCACCTTCAGAGACAAGAGACATGGTGTGTGTGTTGGCGACAGATGAGAATGCAAGCAAGGCTGGGTGGTTTCTGGGCAAAGCATTAGGAATATGATTTTTCAAATTGCCAACTTTCCTCAATTTTCCTCCTTGAGTCCCCCACCTCCCCAGACCACCCTCAATGAGCCTCCTACTTCCTTCTGGATTACCTAATTTATTGTGAGCAAAGGCAAAGAAATCCCTTAAGGTGGAACAAATGTCCATCTCAGAGCTGGGAGGAGAGGATTAAAAAGTTCTGCAGAGACATCTCCATCTATAGTGTCTCCCTTGCCACACCCTAACGATTCCCTAGAAATCCCATACAAATACCCAACAGTAGTAGAGAACACAGATGTCCTCATCCCTCTGAACTCACTCTGGAGCTCTAAAAGGAATAACTTGGTGAGAAAGCACAGGACATCCCACCCAGCTTCCTGTTGGTACTGGTACCAGCACAGACTGAGGGACTACATACCAGACTCCATGGTACGGCATTAAACTATCTTCTCTTATTCTCCAGTTTAGTGCTCCCCAACAACCTTCTAGAGCTCCCTTTGGCCTGATCTCTGCAGATAACCGTACACTAATTTACACAGTCACTTGGCACTCCTCAGGGTTTCTGTTCATTTTTCTGCCTGCCCACATCTCCGTGATTGAGCAAGCGATTACAAATTCACCTCTGCCCTGAAAAGCCTGTGTCCTCACCACCATTCTGTTCGCCAGGCCTAGGGAGAGAGCACTGGCCCTACTCTGGGCAGGAAGTCAACAGGGGAGTGGAGAGTAATGCTAAGAAAACATCCCCCGTCTTTCAGGAGGGTGAACTGCTTTCCCCTGAAATCGCCACATCCTCAGTTTCTCAAAATAAGGGAAAGGAGTCCGCTTGAGCTACTGACAAGATGAAAGAACTGTTAAGGGGCCTAACGAGAGAAAGAGAAAAGGACTAGGAGGAGAAAAGTGTCTTTCGTGTTAAGGAAGACAGGACGAGGCACACAAGGACCGGCCACGAGCTTGCTAGGAGTTAATGTAAGCAATCAGTGAGTGCGTAGTTCGCTACCCAGCAAGAACCAAATGCTGCTGCTGCTGCTACTGCTGCTGAAGTCGAACTTTAAGAACTCAGTAACCTAAAGAGGAGTTTGAAGAGGTATCATGAAACGCCGTCCTGCGGAAACATCCACCATCCGGACCACTGAGGGACCCCAGGTGAGCTCCCCAGCTCCAGTCGCCGGGGTGGGGCAGGATGACCCAGAGATTTTTGGGGGGCTCGGGGGTCAGACTCTCCGCCCCCATTTAACCTTTGGAGAGCCTCTCCTGCCCGTCCCTAATATCTCAGGTTCACTTAACCCCCAGAATGGGTCCTCACACGTGCCCTCTTCGGGCCTTTCCCACTATGGGCTCTTACTTTCCAGAAGCTCCTCCAATTCCCTGTCCGCTTCGGCCCCGACACTACAGCCTTCCTCAGCGGCGGCCATCTTGCTACCTCCGACTTGCCGTAGGAGGCGGGACCTCCTCGGTGCCGACACGCCCTCCACCCCTTCGCTCCCGCCCTCTTCTGCCTCGGGTAACCAATGGTATTGTTGACCAGTGCGGAACCGCCATTTTTAAAGGGCCAGGAAGCTTTGAGTGTTTGTGTTTTGGGTATTTTTCCCTTTTCTCCTGTGAAACAGAATTAGGGATAAGATAGGGTTATTTTCTGTCTGGTTTTAGAGGCCCGGACTCCTTTCTTTCAACTTCCCAAATTACCTGGCGAAGCTCTTTCATTATTTTTTCCTGAGCTGTGAGTAGGCCAGATTGAGACAAACTGCCTACAAATAACCAGAATCTAAACATATATAATTGATATGACAATTATGGCACATAACATACTACTTTCTCTCACTTCATTTTTTTTTTTTTATTTTTTTTTGAGAAGGAATCTTGCTCTGTCGCCTACGCTGGAATGCA
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Task1_train_1969
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A variant affecting Chromosome 1, within the gene COPA (COPI coat complex subunit alpha), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
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GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAG
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GAAAAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTTCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAG
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Task1_train_1970
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Mutation context: Chromosome 1, Gene COPA (COPI coat complex subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCATGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACC
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AAAAACCTGGAAATTGGAGATACGTAAGGATGAAGATTATATCTGTAAGACAAGACACCTGAATGCATCCCTTATTTGCCTAAATTCTCACAATTCTTGGAATCTTTATTTAAATAATTCTCTGTGAATCCTTTCCTAATACTATTCACACTGCCACACTTAGTGTCACTATCCACACTGCCCTTTTCTGTGTTCCCCTAATGCTTTGTACAAACCTCCATTACAGTACTTATCATCCTGCACTGTAATCATTTAGGTCTATCACCCACATTGTAACATGAATTCCCTGAAGGCAGAAATTATAATTTCCATCCTTCCCCAGTCTCTAGCATATAAAAAGAGTATAAGAAGTATTTACTGAAAAAATGGATGTTAAAAACCCTTTGTGATTCTGTTTTTTAAAATGTTTTGCTCTTTCCCTACTAGCACCATCATCCCTTAGAAAACCCTTCCACTCTTGTTCTCCTACTGTCTGCTCTCCAAATATAAACCAGATCATGTCACTTTCCTGCCCAAAACCTTCCAATGGCTTTCCATGTATTCAGAATAAAATCTTAAGTTCTAACCATGGCATAGAAGGCAATACACGATCTGGCCAGACCTCACCTGTTACTCAGTCCCTTACTCACTGTGCTCCAACTGGCCTCTTTGGTGTTCCTTAGCATGTGATGGTGACATGCTAAGCACCTCTCACAACACAGTCTCTGCATTTGCTGTTCCCATTGCCTCATACCCTTTCACTTTTCTGAACCACCCAATATAAAGCAGCAGTCCCCATACTCATCTGTCTCTATCTGCCTTACCTTTAATTTTTCTTCAAAGCATTTTTCACCACACATCATTTTACGTACATATAAAGTGGAAGAAAAAAAGGAGAAAAGCTTCAACTAAGTGGCTCTGAGAGTCCTTCTTCTTCTTGTCATCCTACTATACATTTACTAGAGACAAAGCTAATAATCACTTTCAAGACTTATAAACTTTGAATTAAGCAAAGAAAAAAGAGAGAAAATGGCCCTTACCTGCTGCAAAGAGGTTAAGGTTAGGGTGAGCAGCTAGGACCCAGAAACGATCATGGTCTCTGCGGAAAGTCTGAACCCCAGTCCTAGAAAAGGTACACAAAAAGAAAAACATTAATTTCCTAGGAATCTTCAGCCCATCCTACACAAGAATATTAAATGGTAAGCCAGCAAGCTGATTAAAATGTAAATCAGGGAGAGTAAACTGCATATCCTAAGTAACAGTAGTCGTGATAAATTCTACCAAGGAACAAAAAGAGGAGACTTCAAAACTGACCATATTATTATGATATATAGATTTCCCCTTTTCAGCATAATTTTATGGCTTTCATTCTGCATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCATTCCGCATTTCTTACTTCTCTAGCTACAGAACTGGGGAAAGGGGGAAGAAGAAAACATGTTTAAATTTAGAGGCAAAAAATAATATACATGGAGATTTCTATTTGATGGAAAATTTGTAAATGTTGACTGATCTCTAGGTCTCTTCAAATTTTCATAATATATGATTTGATTTGTCTACATGCTGAAGATGATGAGAGACATAAAGAAGTATTCCAATCTAATTTTAAAAGAGAGAGTAAGAGAAAGTTCACACAACACTGAGGACTACCTTACCGCTTAGACATATCCCAGACTCGAATACTCTTGTCCTCAGAATTGCTGAGGATCAACTCTTGGCGAGGGTGGAAGACGGCACAAGATACATTGTTGTAATGGCCCCGGCAGGTATCAACCTCCCGTGCCTTTGATTCTGAAGGACAAAAAGAATTAGGTCATCACAATTCCCTACTACTATAACTTTAGGATTTGGAGATATGACATCCTCTTCATCAAGAACTAAGTACTATTACAGAATGCTAAATTGCCAACTTCTTTCTAATATGGCAATCTTCTTCATTTAAGTCTCTTAATCTTTACATGTCTTGGTTCTTTCATTCTGACCCTCTTATTGATTATAAAACCTCTTCTCTTGGCCAGACATGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGGCTAAGGTAGGGGGATCACTTGAGCCTAGGAGTTCGAGATCAGCCTGGGCAACATGGTAAAAAACCCCATCTCTACAAAAAATACAAAAATTAACTGGGTGTTGTGGCGCACGTTTGTAGTCCCAGCTACTCAGGAGGCTGAGGGGGAGGATCGCCCAAGCCCAAAAGGTCAAGACGGCAGTGAGCCGTGAATGCACCACCAAACTCCAGGCTGGGCAACAGAGCAAGACCCTGTCTCAAAAAAACAAACACCTCTTTTTCATCATTCTCCATCCCTTTATCCTGTTTTATCTGTCCTGATAACAACTGTCCTAGTTGGCCTTTCAATTTTTGTTATTTTTTCTTTTTTTCAGGGACCTGCCACTTTAGGAGTTGCCATTTTAGAACAAATATGAGCTCCTTCAGACAGGGGCCTTATCTGTTTTAGTCACCGCTGTATCTCCAGAGCCTTAAACAAAGTCTAGTACAAAGGAGGTACTCAATAAATATTTGTCAAATGAATGGATGAATTCTATGTTCATACTCCTCAAAATAAGGGTACCACCACAGGAAAAAAGGGAAAGAAGGAATACTTTCAGTTTCAAAACAGTGGTATAGAAGCAAGCTGGCTTCACTCCCCTCCACAGAAAACCCAAAACAAATATACAGTGCTGAGATTTTCATCAGCAACAACCCAGAACTCAAATATGACAATGAGACAGTTCCTGGGGCCACAGAGAGATGAAAAAACTCTGAGCAGATGGTAAGAGCATCTGATTTCCACATCTGCAATGGCCCTCCCCCAACTCATGGTTTCTACACTGGAAAAAGTGAGACTGAGGAGGTCAACTACCTTCCCCATCTTCCTGGGTGCCCTGGCAGGAGATCTAACCTTGACTTAACCCATGGGAAGCATCACGACTGCCTGAAAGGGGAAATATCCCTGAGGACAGGCAGAGAGAAAGCGGGGAGGCAAGACTATCACACCCAGCCCCAGAAACTCTGCTCTGTTACTTGGCCAAAGGAGATGCCAAATCAGAGTGGCTGCTCAGCAGCACTGCATTGCAGGAAGTATATTCCACAGGTCTGCCCATACACGAACCTCTAGCCAGCCTTGACACACAGCTGGGATAATCCCTTTGGGACCTCCCCATTCAGGACAGACAATGCTCTGGTCATTTACTAAAGCCAAGGTGAACCCGGACTTAAGGTGTCACCTAAAGCCAAAGAGGAGGAAGTGACCTAGCAGTACAGATTTGCTAAGCAAATATATCCAATAAAAACCAAAGCAAGCCAAACAGAGAAAACTGGAATAAGTAACTAATCTTTCAATACAAAGACATAGGTGTATACCCAAAATAAACAATAGCAAACAGGGAACCATAACCTCCCCACAAGGACAAAGCAAAAATACAATGACTGACCCTAAAATGACAGCAATTTGTGATCTCTGACCAAGAATTAAAACTGGTAGTTTAAAGGAAACCCTGTTATCGCCAAGAGATGGCTGAAAAACAATTAAGAAATTTACCAGAGAAGTTTAACAAAGAGATTGAAACAATGAAAACAAATCAAACAGAAATCTTGAAACAGAAACACATTTGCTGAAATGAAGAGCTCATTAGAGACTCTGAATAGCAGACTGGACCAAGTGGAGGAAAAAAATCAGTGAGCTCGAAGACTGGCTGTTTGAAAAATACACAGTCAGGCTGGGCATGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACAAGGTCAGGAGTTCGAGACC
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Task1_train_1971
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This genomic variant is located on Chromosome 1, within the COPA (COPI coat complex subunit alpha) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
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TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
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TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGTGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
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Task1_train_1972
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Consider a variant on Chromosome 1 in gene COPA (COPI coat complex subunit alpha). Determine its clinical classification and disease relevance.
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Pathogenic; See cases
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TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
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TACCCTTGTTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGTGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATAC
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Task1_train_1973
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A variant was discovered in gene COPA (COPI coat complex subunit alpha), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Autoimmune interstitial lung disease-arthritis syndrome
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TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATCTTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATACTGTGACTT
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TTCACAGATGACATTATCATATACTTAGAAAAACCTAAGACTCAACCAAAATGATAAATTCAGTCCAGCTGCGGGATACAAAATCAACATACAAAAATCAGTAGCATGACCAGGTGCAGTGGCTCATGCCTATAAACCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAAGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCTCGTCTCTAAAAAAAGTACAAAAATTAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGAGACGCTGAAGTATGAGAATCACTTGAACCTGGGAGGGGGAGGTTTCAGTAAGCCAAGATCGAGCCACTGTACTCCAGCCTGGGCAATAGAGCGAGATCCTGTCTCAAAATATCAGTAGCATTTATATATGCCAATAGTGAATAATCTGAAAAAAAATCAAGAAATCCCATTTATAGTAACTACAAAAAATATAAAATGCCCAGGAATCACTCTAACCAAAGAAGTGAAAGGGCCATACAAGGAAAACTATAAAACTCTGATGAAAAAAGTTGAAGAGGACCCCCAAAAATGGAAAGATAGTCCATGCTTGTGGGTTGAAAGAATATTGTAAAAATGATAGGGTAAATTACTACCTAAAGTAATTTACAGATTTATTGTATTCCCCATCAAAATATCAAAGACATTCTTCACAGAAACAGAAAAAAAATCCTAAAATTTATATGGCAGCACAAAAGACCCCAAATAGCCAAAGCAATTCTGAGCAAAAAGAACAAAGATGGAGGCATCACACTACCTGACTTCAAAATTTGCTACAAAGCTAGAGTAACCAAAACACTGTGGTACTGGCACAGAAACAGACACATAAACCAATGGAACAGAACAGAGGACCCAGATATAAATCCACAAATCTATAGCTAACTCATGTTTAACAAAGGTGCCAAGAACATACAATAAAGTGTTGGGAAAACTGGGTAACTATATGCAGAAGAATGAAACTCCTATCTCTCACCACACACAAAAATCAAATCAAAAAAGGATTAAAGACTTAAATCTAAGACCAGAAACTATGAAACTACTAGAAGAAAACATTGGGGAAATGTCCCAGGACATTGTCTGGGCAAAATGCTCATCAATAATTATCAGAGAAATGCAAATCAATGTGTCCTTAACACAGAGGCTGAAATATATATACATATATATAGAAAAAAAGACATGCGAATCAAATCCACAATGAGATATCATTTCACCACAGGTAAAATGGCTTGTATCAAAAAGACAGGCAATAACAGATGCTGGCAAGGGTATGGAGAAAGGGGAACCCTCCTGCACTGTTGGTGGGAATGTAAATTAGTATAGTCACAATGGAGAATAGTATGGAGGTTCCTCAAAAAACTAAAAATAGAACTAACATATTATCCAGCAATTCCACTACTGGCTATATATCCAAATAAAGGAAATAAATATATCAAAGCGGTATCTGCATCCCCATGTTTGTTTATTGCAGCACTATTTACAATAGCCAAAATACGGAATCAACTTAAGTGCTCATCAAGGGATGAATAAAGAAAATTACATACGCGCACGTGCACACACACACACACACACACACACACAATGGAATATTATTCAGCTATAAAAAAGAATGAAATCCTGTTATTTGCAGCAAAATGGATGGAACTGGAGGCCATTATGTTAAGGGAAGAACAAAGAGACAAATATGGCATGTTCTCACTCACATGTGGAAGCTAAAAAGTGGATATTATTAAGATCGAGAGTAGAATGGGAAGGAGGGTGAAGGAGGAAATGGAGGAAAACAGAATATAAATATATTTATTACCACTTAACTGTACACATAAAAATTGTAAAGATGATATATTTTATTTGTAAAATAATTTCTATGCTCCTGGGATTAGCATTAATTAATCACCTAAGGTAGAAAAATAGGTCAGAGTCCAGAAGACCTGGCTACTTTACCTTGCTGGCTGGCAGTTTCTTAGATATGGCGATAATGTAACCGGTTCACTCACCATTCATGCGCCAGATATTCACTTGACGATCATCTGCCCCAGATACAATAAGGGGCATAGTGGGGTGGAAGGCAGCCCAGTTTACTCCACGATCGTGACCCTGTAGAAAAGAGTGGTTCTTCTAAAACATCTTTATAGTCATTACTCAAAGCAAACCAATGAATCAAGCTACTCGTTGTAAAAAATGTCTCTGATTTATTCTTCATGTGAACAGATTCAAGAGACTACGCTGCTCTAAAATTTTGAGCATCAGAATTACCATGTCTGTCCTCCAATATTACCCCAAATTCTCATGTGAATTTCCAAATACATATTTCTAACCCCTAAACTCAGCCTCATTTGCATTTAGGATATTCTGCTTTGTTTTTTACTTGCCTATTTTTATCTTATTTCTACAAATAATTATTAATATCTCCAGACAAATTTTATTTTTTATTTTTTATTGTTTTTAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTAATTCTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCATACCCGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCCGGCCTCATGATTCACTTGCCTCGGCCTCCCACAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGCCCGAAAACTTTTATAACTTAATGCAGAAATCTCAGTCTGGTCTTGAAGGAGCTCCAAGATTATTTTAAGAAGTTTGCAAGGTAAAAACTATTTTCATAATATTACTAAGACTTTGTCTTCTTCATTCTTTTTTTTTTTTTTTTTTTTTTTAAGATGAGGTCTTGCTGTGTCATCCAGGCTGGAGTGTAGTGGTGCAATCATATTAATTGCTCCCTGAAGTCTCAAACTTCCAGGATCAAGTGATTCTCCTACCTCGGCCTCCCAAAGGACTACAAGTGAGCACCACCACGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGGTAGAGACAAGGTCTTGCTATGTTGCCTAGGCTGGTTTCAAACTCCTGGCCTCAAGTAATCCTCTGGCCTCGGTCTCCCAAAGTGCTGAGATTACAGGTGTGACCCACTGCACCCAGCCTATTTATCTTCTTCATTCTTATTCTTTCGTAAGTATACAATAGAGTTTCCCAGCACATGATATGTGATATCATCGCTCTGACAGCTAATAGAATGTGTGCTGATATATTTCATGTTTTTAAAAGTTGTTTTAATCTAAAATGTGGTAAAAAATTGACAGATATAACCCACATAAACAAAAACTCTTTGGGGTCCTCAATAAATTTTAAGAGTATAAAGAGATCTTCAGACCAAAAAGTTTAAGAACTGCTGATTTTAAGATACTGTATACCCTATTTATACAGTTATATGGTATATTGTGACAGAATCCTGGATAAGGCAGTTTTGAATTAGCAGTATTATTGAGATGTATCATGATGCAGCGAAAAGCACCTGGGTTTTGGAGTCAGATCGAAATTCAAATCTTATTTCTTACATTTATTTACTAGATATATGTAGATTTTGGTAGACCACTTAATTTCTCTAAATCTCTTTTTTTTTTTTGTCTGCTAAATAGGGATAATAATATCTACTTCAGTGGGTAGCTATGAAGATTAGATAATTTTTTAGAACAAAAACTAGTTTCTTTCCCTTATGCTTTTCTGTTTTCCCACCTGCACAAAAGTTACACATGGCTGGTTCTCGATAACTCCGATTAAATTTCCTGCTGCCCTGCCTTACAGAAAGCTTGAGAATGGGCTCTGCTTTGGGATGGTGATGAGGTCTACGCCTGGCTTTCTCCCTTTCCCACTGGGTTTATAAGGTAATAAGACTCTCCCTCAGGTGGCACATAAGCTTCATTTCTCTGTTGGTTCACGCACAATTTGATTTCTAGTACCTCAAACAGTGCCTGGCACTTAATAAGCACTCTGTAAATATTTGTTGAAGGAATGAATAAATGAACAACATACTGTGACTT
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Task1_train_1974
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A variant affecting Chromosome 1, within the gene NCSTN (nicastrin), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Acne inversa, familial, 1
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CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCCTCCGTCTTCCTCCGGGTCCGTCTGGTGGGCCCATTTCGACCAACACCTCTACCCATTTTCTCTTCCCCGGTGTCAGCGCCGCTCCTGACATCCAACCTCCATGTTCCCCCTTTTATTCTCCACTACCTTTGACCCGCGCGCTCTTGGTCTCGAATTTGGTTAACATCTCTCAGGTCTCCGACTCCGATGTCTTAATCCGAGCCCCGACACACCCTGCTGCCCTTCGGACGCCTCCACGTCAGCGACCCTCTCCCGCGGTTTCCGGAAGCGCCTGGAAACACGAACTTCCGGTCTCTTAGGCTCCGGGCCACAGAGACGGTGTCAGTGGTAGCCTAGAGAGGCCGCTAACAGACAGGAGCCGAACGGGGGCTTCCGCTCAGCAGAGAGGCAAGATGGCTACGGCAGGGGGTGGCTCTGGGGCTGACCCGGGAAGTCGGGGTCTCCTTCGCCTTCTGTCTTTCTGCGTCCTACTAGCAGGTGAGGCCTCCCCGCCCGTGAGCTCCGTTCTCTAAGGGGAACTCTCGGATCGGCCCCGCCGCGACCGCCACTGTCTCCCTTCTGGTTCCTGCTGCCCCTCTGTCCCCCCACCCTGTAAATCCTCTTTCTTTTTCGTTCCCACGACAGAAGTTCCCCCTTTGCCTGGACCTGAAGGTCCCTTCTCCCCCGCAGCACGTCGTGTCGCTTCACTCCCTTCTCTAGGCCTCTTCCTGGACTTCGAGCCTGACCCTCTCCCACTTTGTCCAGATGTCTCGTTTTTCCCACAACCCCAGCCACCCACCCCACAGTCGAAAGGAACAGGTGTGAAAGTTAGCTTTCTTCCTCGCGTTTAGACTTTTTGAGACGAAAGCAATCTTGTTCTGTGGGTGCTGTGCGGCGCTTAAAAGGTGGATTTCTTATTTCTTCCTCTGTTGATTACATCCTAAGTCTGTGTCCCCCTGCCTTGCCTCAGGTTTTTTTTTTTTTTTTTTTTTTAATCAGTAAAGCAAGAATAAGGTAGGATATGGGTACTCTTAACTGTGAAGACCCTGAAGTAACAATTCAAGGAACTTTTGGCATTTATAATGTACTTAAGTGTTTGCTGATACGCGTTCATTTACTGATACATGGCTTTTTAGTTGGTCAAGCCCTAAAATGCAAATGCCTGTATATAACTATGACTGTGCCTTCCCCCAATTCACATTGTTTTTAAGGATCCTCAAAGGAGAAACTACAGCTGCCCCACACTGTGGGCACACAAATGACCTGCTGATGTTAAATTAACTGACCCGTGTATGTCATAAGGTTTCTCTCAATTCTGTTCACACTCTTGGAAAAATGCCTCAGAAAGTTTTCTTAGCCCAGCACCTGTGTATTAACCAATTAGTAATATACATACAGGATATACAAGCAGAAGTGTGATCACCTGTGCAACCAGAATCTGGCAAATCTAAGGTCAAACACCTTTCCTTTGACCAAGTTTTCTCTCTTTTAGTGTCACTGTCAATGGCGCTACATGGACTTTGTAATAACCCTTTGAGGCACATAGCTGGGTGCCATGTAGAACATGTATCTGTTACGATAAGTGTGTGCCCAAGAAATCAGAAGAATGGACTTTAATCTCATTTTAGAAAGTATGATATTAAATGATTTACCCAAGCCATACTTCAGGTTAATGACACGATAGAAGCTAGTACCTGTGTCTCTCAAATTTTTCTAACACTTTTTATCTTCCGATCAGGTTTGTGCAGGGGAAACTCAGTGGAGAGGAAGATATATATCCCCTTAAATAAAACAGCTCCCTGTGTTCGCCTGCTCAACGCCACTCATCAGATTGGCTGCCAGTGTGAGTTGAGATGGATTCATGTTTGTGGACATTGATATTTGTCTGTGCCCTAGATACTAAGTAACATCCATGTCCTGCTTAGGAGATTTGACACTTATATTGGACTGTATGTAGGCAGTTACAGATAACCGTCTGTCAAGCTAGGCAAGATAATTAATAAGAACTAACATTTAGTAAATGCTGCATACCAAGCTTTTTACATGTGCATCTCATACAACCCCAACCACAACCCCACAAAATAGGTCTTACTGTTATTGTCACTTTATAAATGATGAAACTAAAACTTAAAGAAGTTGAGTAACTTTCCCAAGATCATACTGGTAATAAGTGATGATGCCAGGATCTGGTGGCCCGAGCACTAAGCTGAGAGACCTTTTTTTTTTGACACGGAGTTTCACTCTTGTCCCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACGGTGACCTCTGCCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACATGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCGAGCCAGCACTCTTAACCACCCTATTATACTGTTTTTTAAGGAGAAAAAAGTCTCATATTCTATGGTGTCCAGTTATCACTTGCACTCTGAACTTTTTGGAACCAAAATGGGCTAAAGGCAATGAACTATCTGAAGAGAAGGCACTGAAAATGCCAAATAGGCTGGGCGCAGTGGCACATGCCTGTAATCCCAGCACTTCAGGAGGTCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAATCTGCCAGCATGGTGAAACCCCCCCATCTCTACTAAAAATACAAAAATTAGCCGGCTGGCTGCTATGGCATGCCTGTAGTCCTAGCTTCTCGGGAGGCGGAAGCAGAAGAATCCCTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCATACTCCAGTATAGGTGACAGAGTGAGACACTGTCTGAAAAAAAAAAAAAAAAAAAAAAAGAAAATGCTGAATAATTGCAAGAGGAATTAGTGAAGCATTCTATTTATCCTTTTTTAAAACTTTTTTTCCTTAAATTCAACTGACAGGCCGTTTATTTTCACACTTTGTGTGTTCCAAAAGAAGGTTCCATGACACTGTGGCTTTAAAAACTATCAAAATCATAGGGCAGGAAAAGTAGTAATCTAAAGGCTAACCTGCTGTCTTCAGATTTTGTTTCCCATGGACAATAGCTCTGTCAGAATGTAGTTTTGCAGATAAGCAGGAAACTTGGGGTCTGATACTGGCTTCTTCATCATCAAATTGATCACCTCTGAATTTCAGTTTACCCCTGGAATAATGGTTGGAGTACTTGCATAAAGCTGAAAGTCAAATACCTCTTAATAGTTGTTTATTGATGACGCTAGGTAAATAGGGTGGTCTCAAAAGTGCTGTATAATTTCCTGAAGCCTTCTTCCCATTTGATAAGAGAAAACTGGGACACTGAGAAGTGAAGGACTTGTTCGTGGAAGCAGTTACTACTTTTTTAGCCATCTTTCCCTGAGCTATAGTATCTGTTAATTGTCCCATGTCCCTGCTATACAAAGCACTGGGAGTAGGTTGACTGGTTCCAAACAGCCCCAAATAAAGTTTTTGTTGTACTTAGTTTCTTTTTTTTTTTTTTGAGATGCAGTCTCGCCCTCTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACTTCCTCCTCCCAGGTTAAAGCAATTCTCCTGTCTCAGCTTCTTGAATAGCTGGGATTACAGGCGCGTGCCACCGTGCCCAGCTAATTTTTTGT
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CCTCCTTAAGTGAGGTTGCCACTACTCGTCTCCAAAAAGGCTACTGACTCGGGTGCGAGTAACAGAGATCGAGACTCAGTTCCCAGGGCCACTCCATATAACACAGTCATCAAAAAGCCAACAGATCACAGGGCCTTTGGAGCAGAACAACACAAATCGGGAGCACAGCCAAGAGAGAAAGGGGGAAGAAAGAATAGGGAGGGGGTCTAAGGAATCCCCTGCAGTGTGGGAGCCACTTTATAGGTAAATCGAAGCCCAAGGACACACCAAAGAAGAGGGGACTGGAGAACCGCTAGCCAGGCCCAACCTCTCTCCCACCCTCCGTCTTCCTCCGGGTCCGTCTGGTGGGCCCATTTCGACCAACACCTCTACCCATTTTCTCTTCCCCGGTGTCAGCGCCGCTCCTGACATCCAACCTCCATGTTCCCCCTTTTATTCTCCACTACCTTTGACCCGCGCGCTCTTGGTCTCGAATTTGGTTAACATCTCTCAGGTCTCCGACTCCGATGTCTTAATCCGAGCCCCGACACACCCTGCTGCCCTTCGGACGCCTCCACGTCAGCGACCCTCTCCCGCGGTTTCCGGAAGCGCCTGGAAACACGAACTTCCGGTCTCTTAGGCTCCGGGCCACAGAGACGGTGTCAGTGGTAGCCTAGAGAGGCCGCTAACAGACAGGAGCCGAACGGGGGCTTCCGCTCAGCAGAGAGGCAAGATGGCTACGGCAGGGGGTGGCTCTGGGGCTGACCCGGGAAGTCGGGGTCTCCTTCGCCTTCTGTCTTTCTGCGTCCTACTAGCAGGTGAGGCCTCCCCGCCCGTGAGCTCCGTTCTCTAAGGGGAACTCTCGGATCGGCCCCGCCGCGACCGCCACTGTCTCCCTTCTGGTTCCTGCTGCCCCTCTGTCCCCCCACCCTGTAAATCCTCTTTCTTTTTCGTTCCCACGACAGAAGTTCCCCCTTTGCCTGGACCTGAAGGTCCCTTCTCCCCCGCAGCACGTCGTGTCGCTTCACTCCCTTCTCTAGGCCTCTTCCTGGACTTCGAGCCTGACCCTCTCCCACTTTGTCCAGATGTCTCGTTTTTCCCACAACCCCAGCCACCCACCCCACAGTCGAAAGGAACAGGTGTGAAAGTTAGCTTTCTTCCTCGCGTTTAGACTTTTTGAGACGAAAGCAATCTTGTTCTGTGGGTGCTGTGCGGCGCTTAAAAGGTGGATTTCTTATTTCTTCCTCTGTTGATTACATCCTAAGTCTGTGTCCCCCTGCCTTGCCTCAGGTTTTTTTTTTTTTTTTTTTTTTAATCAGTAAAGCAAGAATAAGGTAGGATATGGGTACTCTTAACTGTGAAGACCCTGAAGTAACAATTCAAGGAACTTTTGGCATTTATAATGTACTTAAGTGTTTGCTGATACGCGTTCATTTACTGATACATGGCTTTTTAGTTGGTCAAGCCCTAAAATGCAAATGCCTGTATATAACTATGACTGTGCCTTCCCCCAATTCACATTGTTTTTAAGGATCCTCAAAGGAGAAACTACAGCTGCCCCACACTGTGGGCACACAAATGACCTGCTGATGTTAAATTAACTGACCCGTGTATGTCATAAGGTTTCTCTCAATTCTGTTCACACTCTTGGAAAAATGCCTCAGAAAGTTTTCTTAGCCCAGCACCTGTGTATTAACCAATTAGTAATATACATACAGGATATACAAGCAGAAGTGTGATCACCTGTGCAACCAGAATCTGGCAAATCTAAGGTCAAACACCTTTCCTTTGACCAAGTTTTCTCTCTTTTAGTGTCACTGTCAATGGCGCTACATGGACTTTGTAATAACCCTTTGAGGCACATAGCTGGGTGCCATGTAGAACATGTATCTGTTACGATAAGTGTGTGCCCAAGAAATCAGAAGAATGGACTTTAATCTCATTTTAGAAAGTATGATATTAAATGATTTACCCAAGCCATACTTCAGGTTAATGACACGATAGAAGCTAGTACCTGTGTCTCTCAAATTTTTCTAACACTTTTTATCTTCCGATCAGGTTTGTGCAGGAGAAACTCAGTGGAGAGGAAGATATATATCCCCTTAAATAAAACAGCTCCCTGTGTTCGCCTGCTCAACGCCACTCATCAGATTGGCTGCCAGTGTGAGTTGAGATGGATTCATGTTTGTGGACATTGATATTTGTCTGTGCCCTAGATACTAAGTAACATCCATGTCCTGCTTAGGAGATTTGACACTTATATTGGACTGTATGTAGGCAGTTACAGATAACCGTCTGTCAAGCTAGGCAAGATAATTAATAAGAACTAACATTTAGTAAATGCTGCATACCAAGCTTTTTACATGTGCATCTCATACAACCCCAACCACAACCCCACAAAATAGGTCTTACTGTTATTGTCACTTTATAAATGATGAAACTAAAACTTAAAGAAGTTGAGTAACTTTCCCAAGATCATACTGGTAATAAGTGATGATGCCAGGATCTGGTGGCCCGAGCACTAAGCTGAGAGACCTTTTTTTTTTGACACGGAGTTTCACTCTTGTCCCCCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACGGTGACCTCTGCCTTCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACATGCACCTGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAAGTGATCCACCCACCTTGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCGAGCCAGCACTCTTAACCACCCTATTATACTGTTTTTTAAGGAGAAAAAAGTCTCATATTCTATGGTGTCCAGTTATCACTTGCACTCTGAACTTTTTGGAACCAAAATGGGCTAAAGGCAATGAACTATCTGAAGAGAAGGCACTGAAAATGCCAAATAGGCTGGGCGCAGTGGCACATGCCTGTAATCCCAGCACTTCAGGAGGTCAAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAATCTGCCAGCATGGTGAAACCCCCCCATCTCTACTAAAAATACAAAAATTAGCCGGCTGGCTGCTATGGCATGCCTGTAGTCCTAGCTTCTCGGGAGGCGGAAGCAGAAGAATCCCTTGAGCCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACCATACTCCAGTATAGGTGACAGAGTGAGACACTGTCTGAAAAAAAAAAAAAAAAAAAAAAAGAAAATGCTGAATAATTGCAAGAGGAATTAGTGAAGCATTCTATTTATCCTTTTTTAAAACTTTTTTTCCTTAAATTCAACTGACAGGCCGTTTATTTTCACACTTTGTGTGTTCCAAAAGAAGGTTCCATGACACTGTGGCTTTAAAAACTATCAAAATCATAGGGCAGGAAAAGTAGTAATCTAAAGGCTAACCTGCTGTCTTCAGATTTTGTTTCCCATGGACAATAGCTCTGTCAGAATGTAGTTTTGCAGATAAGCAGGAAACTTGGGGTCTGATACTGGCTTCTTCATCATCAAATTGATCACCTCTGAATTTCAGTTTACCCCTGGAATAATGGTTGGAGTACTTGCATAAAGCTGAAAGTCAAATACCTCTTAATAGTTGTTTATTGATGACGCTAGGTAAATAGGGTGGTCTCAAAAGTGCTGTATAATTTCCTGAAGCCTTCTTCCCATTTGATAAGAGAAAACTGGGACACTGAGAAGTGAAGGACTTGTTCGTGGAAGCAGTTACTACTTTTTTAGCCATCTTTCCCTGAGCTATAGTATCTGTTAATTGTCCCATGTCCCTGCTATACAAAGCACTGGGAGTAGGTTGACTGGTTCCAAACAGCCCCAAATAAAGTTTTTGTTGTACTTAGTTTCTTTTTTTTTTTTTTGAGATGCAGTCTCGCCCTCTCGCCCAGGCTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACTTCCTCCTCCCAGGTTAAAGCAATTCTCCTGTCTCAGCTTCTTGAATAGCTGGGATTACAGGCGCGTGCCACCGTGCCCAGCTAATTTTTTGT
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Task1_train_1975
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Given this context: Chromosome 1, gene NECTIN4 (nectin cell adhesion molecule 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
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ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGTGACCTGAGAATCCCTTGAGGAGAACTCATTGCTGACATGGCAGACGTAGATGCCGCTGTGCTCAGTGGTCAGTGGGGGAAAGCCCAAAGTGTCCCCATCCACTCGTACCCCACTGGGCAGAGGCCCATCCAGCCTGGAAGACAGGGAAGCTGAAGGGTGCCAGCCGGGAAGGGCTGAAGCCACCACCACCCAACGTGTCCAGACAGCTCTCCACCCTCCACCCCCATGACGTCACCCAGAGCCGCAGGCTGTTCCCACGGTGCCCCTCCCTCCACCAGGCAGGTCTAGGCAGAGGTCCTTTCTCCCTGCTGCCCAGCCTGACCTGGGCACCCCCCACACACACCCGGGGAAGATCCACACGTGTGCCATCCCACATGCTTCCACAGGCATCACGTCATCCAACACTGGGTACCAGGTACACATGTTATAAAGTCCACACAACAGGACACTCCACTCCTAGCTGGGTGTAGAGGTAATTGGAAAATGTGACTGCCTGCTCCAACACCCGTGATGTTGCATGGCAGGATACACAAACATAGCCCCAGGCACAAGGCCACATGCATCGCTCATATGCTCACATGTGAGAACATGCCCATGATGTGCTCACACACATGTGTACCCAACCTCTCCCTGACTCTCTAGATATTTCAGATCTTGGAAAAAGGCCAAGGATGCCTTGAGGGAACTGGAGGTAGTGGGTGTTTTTGAGGTGCTAGCAATATTGTGGTGGTTATAGGAGTGTTGGCTTAACAACAATTAGAAAAAGACACAGCTGTCTTGTCCATTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGG
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ATCACACCCACCACCACCACCGAGGCTGACACTAGGTCCACCTGCTTCCCAGAGTCTTCCTGGGGGTCTGCTGGAGACAGGCCACTGTCTGAGGTGGAAGCCTGCAGCCACAACCCACCCCAGACCTCACAGCTCCCCCGCAAAACATCTAAAACCACACCTCAGTTTGATTCTCTGCAAGACACACAGCCCAGCCCCCTCTGAATAAACACTTTCCCAATTCACTGTCTCTGTCTTGCTTCCTGCTGCCCCCACCAAGCCCTTGGCCCAGGTCCTTACCAAGGACTTCTGCTCCAGTGCTTACCAAGAACATCCACAGTGACCTGAGAATCCCTTGAGGAGAACTCATTGCTGACATGGCAGACGTAGATGCCGCTGTGCTCAGTGGTCAGTGGGGGAAAGCCCAAAGTGTCCCCATCCACTCGTACCCCACTGGGCAGAGGCCCATCCAGCCTGGAAGACAGGGAAGCTGAAGGGTGCCAGCCGGGAAGGGCTGAAGCCACCACCACCCAACGTGTCCAGACAGCTCTCCACCCTCCACCCCCATGACGTCACCCAGAGCCGCAGGCTGTTCCCACGGTGCCCCTCCCTCCACCAGGCAGGTCTAGGCAGAGGTCCTTTCTCCCTGCTGCCCAGCCTGACCTGGGCACCCCCCACACACACCCGGGGAAGATCCACACGTGTGCCATCCCACATGCTTCCACAGGCATCACGTCATCCAACACTGGGTACCAGGTACACATGTTATAAAGTCCACACAACAGGACACTCCACTCCTAGCTGGGTGTAGAGGTAATTGGAAAATGTGACTGCCTGCTCCAACACCCGTGATGTTGCATGGCAGGATACACAAACATAGCCCCAGGCACAAGGCCACATGCATCGCTCATATGCTCACATGTGAGAACATGCCCATGATGTGCTCACACACATGTGTACCCAACCTCTCCCTGACTCTCTAGATATTTCAGATCTTGGAAAAAGGCCAAGGATGCCTTGAGGGAACTGGAGGTAGTGGGTGTTTTTGAGGTGCTAGCAATATTGTGGTGGTTATAGGAGTGTTGGCTTAACAACAATTAGAAAAAGACACAGCTGTCTTGTCCATTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACTGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGG
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Task1_train_1976
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This gene mutation involves NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
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TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCT
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TTTTATGCACTCACATAAATATATAAAATATTAATATCGAAATATTGTGTTATATTTCACAATTTAAAAGTTAGACAAGGCCGGGCATGGTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACATGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCT
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Task1_train_1977
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A sequence alteration has been identified in NECTIN4 (nectin cell adhesion molecule 4) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
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GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCA
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GTGGCTCACGCCTATAATTCCAGCACTTTGGGAGGCCGAGGCTGGCGGATCACCCGAGGTCAGCAGTTCGAGACCAGCGTGGTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTACGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCA
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Task1_train_1978
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A variant found in Chromosome 1 affects NECTIN4 (nectin cell adhesion molecule 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Ectodermal dysplasia-syndactyly syndrome 1
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GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCGTGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCACTCGGAGCCGCAGCCGCGCCTGGAAGCTGCCGGCGGGGAAGGTGCTGACCCGGCACTCGTACTCGCCCTCATCCGCCTGCA
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GTCAACATGGTGAAAGCCCATCTCTACTAAAAATACAAAAAACTAGCTGGGCATGCTGGCACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGCAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAAACTCCATCTCAAAAAAATAAAAATAAAAGACAAGGGCTGGGCGTGGTGGCTCACGCCTGTAATCACAGTACTTTGGAAGGCCAACGTGGGCAGATCACAAGGTCTAGAGATCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGGTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCGGAGGTTTCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGCGACAGAGCAAGACTCCGTCTCAAAACTAAAATAAATAAAATAAAAGACAAAAAATTTAAGGGCTTATCCATTTATTCCCTACTAATGACCATGTATCTTAGATTCCCTGGGCAAGCCAATAATATTTGGTGACCATACATATTCTTGTATGATGAGTATAATAATACAAGAGATCTGAACACATACCCCAATTTATTTGGGGGCTCAGAATATGTTGTCCCATTCCATAGTGGTATATCCTGGCCCTGAGAGGGGAGGAACCTAGTCTCAAGTTAGGCCTTCCTCAGGCTCGGGCCCTTACCGTGTCCAGTTGTATGAGGGAGGGGGCTGCCCTTCACTCAGGCACTTGAGCATAGCTCCTTCTCTGCCAATGTGCCACAGATTTTGGTCTTCAAGGCCCCTCACAGAGGCCTCAGCAAGGACTGGAATGGGAAGTGGGAGGAGAAAGAATGGGAATGATGCCTTTGATCATGTGGTACCTCAAAGGGCCCTGCCCCCACCCCACCCTGCCTGAAACACCCTCCCCTTGCCCTTCTCCATCCTACTCATCTGCTGCCAAACCTAGCTCAGCCCCACCCTGCTGACAGCTCCTGGCCACACTGTTCCCTCCCCTCTCTAAGCTCAGAGAGTCTGTATTGGTTTACCTGTACAATGAGACCATAAGTCCCTCAAGGTAGTGATCCATCACACATTTTCTGGATGTCCTGTGTTGCCTAGCATAGTGCTAGTCATAGAACAGGTGCTGAATAAATGTTGCCTGATTTTTCAAAGGTGTAACAATCCTACTAGTTCATTCATTTCTTCAACAAACATTTGTTGAGGACCTGCTTTGAGCCAAATGCTGACAGTCTTATCCCCTCCAGAGGCTTGAAATCTAGCACTGGGAAAACAATATCTACCATTTACCAAGCGCCTTCCATGCGCTAAGCACTGTGTGAGTTGCTCTGCATTCATAGTTTCTAATTCCCATCAAAACCCTCTAAAGTTGGTATGAGTTATATATAATTATACCCATTTTGCTGATGAAGAAAATGAAGCCTAACAAGAATGAATAACAGCTGGTAAGTAGAACTAGGGCTTGTCTAAGTTTATCTATTTCCAAATCCTAAACTAATATTTTAGAAAGTGCTTTCAATTCCATGTTTCTAATTGATTCTCCCAACAACCCTGTGAAACAAGGCAATCTCCTTTGTAAAGATAAGGACACAGAAGCTCAGAGAGGTCTATCCTCTGGGATCGGGCTCCAGGTCTTCCACATTTGGACTAGTGCTCTGTCACATACTATATATAGCCTCCAGGACCCAGGCTGGCCAGCCTGGCATGGCTCAGGGACCTGTGGCATCTCACCAATCTGCTGAGAACCCCTTGGGCCTCCCTACCCAAGCATCCAAGTACTTACAGGACACGTGGAGGATGTGGGTGATCCTTTGGTCCTGGAGCAGGCCAGGATGGGACACCACACAAGTCAGTGGCTGCCCATTCATGCTGCGGCTAGGCACCAAGTGGAACTCTGAGGTGACGGCAGCAGAGCGGGAGTGCTTGAAGGAACGGCTGGACGTTGTGCCTTTGACCTCCATGTCCCAGGTCACGCTGGGGGCTGGGCTGCCCTCAGCTGTGCAGGAGGCTGCCAGGGTCAGGCCCTGGCCCTCTTCTAGTGCTGGACCAGGATTCAGTGAGGGCAGGGGAGGCACTGCAAATGGGGAAAGGCAGGGGTCACAGGTCTACACAATCCCTGTCAGGAGGCCCCCACTCATCGCATTTCAGTCTTGCACAAGTACAAACTTTCAGGCCCCCTTTCCTTCTCTTATTTCATGGAGACGCAGATGAATGGTAGAAATTCAGGTGACTTTGTATCCTTCTCTACTGTGCGAATTTTTTACAATGAACGTAGGTTATTTTAAAAAATAAAATAATGAAGTAATTAAAAAACTAACCAGATATCATCTACCTAATAATAATAACCACCATCTAGTAAGCATTTACTATGTGTCAACTATTATGCTAAATACCTTATAAATGTTATCTCAAATTCTGTCAACAAACAGTGAGTTAGGTATTATTATCTCTATTTTCCAGATGAGGAAACCAAAGCACAAGGAAGTTAAGTGACTATCCCAAGTCATCAGCTATTAGGTGACAAAGCCTAGATTTACACTTGGGTTTTTATTTTTACTCCAAGGCTGATGTTATTAACTTATATGTGAATAAAGGGAAACTATAAAAACCTTTATTTTATGTATTTATTTATTTATTTATTTATTTATCTACTTGTGAGACTGAGTCTCCGTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGGTCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGGCATGAGCCACCTCACCCAGCCAAAAACCTTTATTTTTACCTTCAAAATATTAACACAGAATGGAAAAGACTTAACTTGACCGTAAGTCCAGAGTTCACCACAAGTGCCCACAATATAAAGTGATGGTTTAAAAAGTGATTGTGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGAGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCTTGTCTCTACTAAAAATACACAAAAATTAACTGGGCGTGGTGGTGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAATGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAAAAAAGCGATTGTGATCTCAGACCACATTCACTGAAGGTCCATATCAAGGAAGGTATTAGCTCCTCTGATCGTGTATGGCCACACCATTGCTGGGCCTGTGTTCACATTCAGGACCCACATTGTAAAAAATACCATGGAGCACAGGATGGTGAGAGAGGCTTTGAAATTGTCTTTGGTGGAACTGTGTCAGGAACCAGTAAGTTTAGCTTGGAGAAGAGTAGATTTGGGTGGGGCACGACAAAGGGCCTCTGCTTTTGGAAAGGTTGTTGTGCAGAAAAGAGAATAAGCCAGTGCCATATTGCCACAGGGCAAAAGTAACAGAGGGAGTTTCATGTCGTCGGAAGGAAGAACTTCCTAATAAATGGATTCTTCCCCAGCTTTTGGGGTTACTTGGAGAGAATTTCTGGATTGGGTGCGAGGATAGCTAGCTGGATGAAGCTCCCTCACCTGAACATGACCCCACTTTTTATTCCTGTTCTACCTCTGCCCCATCCATCTCTGCAGTCCCCATCTCTGCTTCCCCCTGCATCCACAGCGGCTCAGACCGTACCCAGAGATCCCCGCTTACCCAGCACTCGGAGCCGCAGCCGCGCCTGGAAGCTGCCGGCGGGGAAGGTGCTGACCCGGCACTCGTACTCGCCCTCATCCGCCTGCA
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Task1_train_1979
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Gene LOC126805894, UFC1 (MED14-independent group 3 enhancer GRCh37_chr1:161123368-161124567| ubiquitin-fold modifier conjugating enzyme 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Neurodevelopmental disorder with spasticity and poor growth
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TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGAACTCCTGGGCTCAAGCCATCTGCCCACCCCGGCCTCTGAAAGTGCTGGGGTTATCTGCGTGAATCACCGCACCCGGCCAAACAAGATATTTAAATCTATAATTAACGTTTTTAGGTTTTATTTATTTTTTGAGACGGAATCTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCATTGTAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCAAGTAGCCGGGACTACAAGCGTGCGCCACCATGCCTAGCTAATTTTGTATTGTTAGTAGAGACGGGTTTCACCAGTCAGGCTGGTCTGGAGCTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAGTTGCTGGGATTACAGGCTTGAGCCACCACGCCAGCCAAACAGGATATTTAAATTAAAGCCAAAATGGCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGCGAAACCCGGTCTCTACTAAAAATACAAAATCAGCCGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCCAAAAAAAAAAAAAAAAAAAGCAAAAATTAATGTGTTTAGATTTTAAGTCCAACTGGAGTTTGTTTATTGTTTCCCCACAAGTAATCCCAGCACTTTGGGGAGGCTGGGGCAGGAGGATCGCTTGAGCCCGGGAGATGGAAGATGCAGTAAGCTATGATCGTACCACTGTACTCCAGCCTGGGCAACAGATTGAGACACTGTCTAAAAAAAAAAAAGTCTAGGACTCAGTGAATGGCTAGACTAAGGCAGAAATCTTGCAGGGATTTGTCTTTTGATTCTGCATGGTTTCTAATCTTTATCAGGAGTTAAACATCCTTCTACAGGATAACTGCATCTAGAGGCAGGACTATATATAAGCAAAGGAAAAGTTCTTCGAAGAGGAAACACGAATCGCTCGTTTTAGGAAGTCAGTGCCTTGAAAAGCGCCTTGGGGTTGGGGGCTCGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACAAGTATACCTATGTATCAAACTTGCACGTTGTGCACATGTACTCTAGAACTTAAGGTATAATAAAAATAAATAAATAAGTAAAAATGCCTTCAGCAGCCTGAAGTTCTAAGAGCTTTCCAAGTTTGGGAAGGTGTCCGGGTTTTCTGCGATTACTTCTCTGAGCATGAACGGAAGTCACCCTTTGTGCCTTATGCGGTGATTTTAATGATAGGTGTCATATATAGGACGGAGTAATCTGTTTACATTCTGTTCTTCTCGATGCACTCACAAGCGGGTAACTAGGTGACAAGAAAACAAAGATCTTATTCAAAAGAGGTCTTACAGCAACCCAACGTCTCATCTTCCCATAGTAAAGATGACGGCGCCTTGAGGTAAGCTACAGGCAACACCACTTCCGCGTTTCTCTTGCGCCCTGGTCCAAGATGGCGGATGAAGCCACGCGACGTGTTGTGTCTGAGATCCCGGTGCTGAAGACTAACGCCGGACCCCGAGATCGTGAGTTGTGGGTGCAGCGACTGAAGGAGGAATATCAGTCCCTTATCCGGGTTAGTTGTGTTTCTACAGTCTAACGCGTAGCATAAGGGTTGGGAGAAATCAGGTGTCCTCAATAATAGGCTCCGTGTGGAAGCCGCTTCCGGTTTTTAAGTTTAACGCCCAAATTCATAGAAATGGGACTATTGTGGGGCTCGGGGACTAAGGAGGGATGGTGGGGAGAGGGCAAAAAAGACTCGGGTGAGGTGCACAGTGGGGCCAGACCTTGCGGCTAAAAGCAGCAGTTATTTTAGGGATACGCTTCCCCAGAAGGTGACGTGTCTCCCTGGCTACAGGTGTTTGTTCACCTGGATGTGAACAAAAATCCTCAGGGCGCCAACTCCCAGTCCGCATCTCTCTGCCCCCTTCTTCACTCTTCACTGTTTTGTTTGTTTGTTTGACGGAGTCTCGCTCTGTTGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCCCCTGACCTCGTGATCCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTCACTCTTCACTCTTTCAAGCCACATTAGGGCTGAAAATTCAAGTAGGTGTTAACTACAGAGAGTTGGGGAGTTTAGCTCATAGTTAGAAACGGGCTGTCTTCTCAGTTATCTCTACTGTGGAAGGTGAGAAAAGTTTGTCTTCCTTGTAGTTTCTGCCTGCTTCAAAGACCAGCAGTTCTAGTTCTCCTACCTCATGTATTCATTCACTAAAAAAAAAAAATTACTGTGCATATAGAACCTAGGGAGGAGATACCAAGCCGAATAAGGAGGAACTTACTGAGGTAGACAAAACCAGATCATTATAATACAGTGTTTAAGTGGAGAGAGACTGAGACAGATATGGACAGATATAAAGCGAGAAATGGCTAGGATGTTTTGAGAGCATAAGAGGAGACATCCAGTTTGCATTCGGTCACGGAAGGTTTCCTGGAAGAGGTAATGCTTGAGCTGAAACTTAAAGAGTAAACATAAGCTAGCCTGATAAAACATAAGAGTAGAAGGACATTCAAGCCAAAAGGGACAGCATGAGCAAAGGCATAGAATCTAGAAACGGCACAGGCACCAGCATGATGTGTTTGAAGAAACAAAGTAGCTCAGAGTTGTTAGAGCATCAAATGTGAGGCAGGGAATGGTAGACAAAGCTAGGAGACATATTTGAGCACTTGAATTTTCTCTTGGAGGCTTTGGGATACCGTTAAAAGTTATTAAGCTGAGGAATTACATGGCCGATTTGGGTTTAGATCAGTCACATTGGCAATAAGGGGAAAATACAATTGACAGGGACAAGACTGAAGGTAAGAGACAAGTTAGGCTGTCATTAATCTCAGCGAAACAAAAGGCAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTT
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TGTCTCAAAAACAAAACAAAACAAACAAACAAAAAAACTTACTGCCACAGGCTGGAATGATTCACTGAATAAACAGTGAAATAAACATAAATAAAATAAATAAATATATTTTTAAAAATTTTGGTCTTACTTTGACCCCCCAGGCTGGAGTGAAGTGGTATAATCTTGGCTCATTTGCAATCTCGACCTCCGGGGTTCAAGAGATCCTCCTGCTTCAGCCCCCAAAATAGTTGGGACTACAGGTGCCCGCCACCACTCCGGCTAATTTTTGTATTTTTTGTACAGCTGGGGTTTCACCACGTTGCCTAAGCTATTTTCGAACTCCTGGGCTCAAGCCATCTGCCCACCCCGGCCTCTGAAAGTGCTGGGGTTATCTGCGTGAATCACCGCACCCGGCCAAACAAGATATTTAAATCTATAATTAACGTTTTTAGGTTTTATTTATTTTTTGAGACGGAATCTTGTTCTTGTTGCCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCATTGTAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCCGCCTCAGCCTCCAAGTAGCCGGGACTACAAGCGTGCGCCACCATGCCTAGCTAATTTTGTATTGTTAGTAGAGACGGGTTTCACCAGTCAGGCTGGTCTGGAGCTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAGTTGCTGGGATTACAGGCTTGAGCCACCACGCCAGCCAAACAGGATATTTAAATTAAAGCCAAAATGGCCGGCGCGGTGGCTCACGCCTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAACCTGGCCAACATGGCGAAACCCGGTCTCTACTAAAAATACAAAATCAGCCGGGCGTGGTAGCACATGCCTGTAATCCCAGCTACTCAGGACGCTGAGGCAGGAGAATCAATTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCGGTCTCCAAAAAAAAAAAAAAAAAAAGCAAAAATTAATGTGTTTAGATTTTAAGTCCAACTGGAGTTTGTTTATTGTTTCCCCACAAGTAATCCCAGCACTTTGGGGAGGCTGGGGCAGGAGGATCGCTTGAGCCCGGGAGATGGAAGATGCAGTAAGCTATGATCGTACCACTGTACTCCAGCCTGGGCAACAGATTGAGACACTGTCTAAAAAAAAAAAAGTCTAGGACTCAGTGAATGGCTAGACTAAGGCAGAAATCTTGCAGGGATTTGTCTTTTGATTCTGCATGGTTTCTAATCTTTATCAGGAGTTAAACATCCTTCTACAGGATAACTGCATCTAGAGGCAGGACTATATATAAGCAAAGGAAAAGTTCTTCGAAGAGGAAACACGAATCGCTCGTTTTAGGAAGTCAGTGCCTTGAAAAGCGCCTTGGGGTTGGGGGCTCGGGGCTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAAATGACGAGTTGATGGGTGCAGCAAACCAACATGGCACAAGTATACCTATGTATCAAACTTGCACGTTGTGCACATGTACTCTAGAACTTAAGGTATAATAAAAATAAATAAATAAGTAAAAATGCCTTCAGCAGCCTGAAGTTCTAAGAGCTTTCCAAGTTTGGGAAGGTGTCCGGGTTTTCTGCGATTACTTCTCTGAGCATGAACGGAAGTCACCCTTTGTGCCTTATGCGGTGATTTTAATGATAGGTGTCATATATAGGACGGAGTAATCTGTTTACATTCTGTTCTTCTCGATGCACTCACAAGCGGGTAACTAGGTGACAAGAAAACAAAGATCTTATTCAAAAGAGGTCTTACAGCAACCCAACGTCTCATCTTCCCATAGTAAAGATGACGGCGCCTTGAGGTAAGCTACAGGCAACACCACTTCCGCGTTTCTCTTGCGCCCTGGTCCAAGATGGCGGATGAAGCCACGCGACGTGTTGTGTCTGAGATCCCGGTGCTGAAGACTAACGCCGGACCCCAAGATCGTGAGTTGTGGGTGCAGCGACTGAAGGAGGAATATCAGTCCCTTATCCGGGTTAGTTGTGTTTCTACAGTCTAACGCGTAGCATAAGGGTTGGGAGAAATCAGGTGTCCTCAATAATAGGCTCCGTGTGGAAGCCGCTTCCGGTTTTTAAGTTTAACGCCCAAATTCATAGAAATGGGACTATTGTGGGGCTCGGGGACTAAGGAGGGATGGTGGGGAGAGGGCAAAAAAGACTCGGGTGAGGTGCACAGTGGGGCCAGACCTTGCGGCTAAAAGCAGCAGTTATTTTAGGGATACGCTTCCCCAGAAGGTGACGTGTCTCCCTGGCTACAGGTGTTTGTTCACCTGGATGTGAACAAAAATCCTCAGGGCGCCAACTCCCAGTCCGCATCTCTCTGCCCCCTTCTTCACTCTTCACTGTTTTGTTTGTTTGTTTGACGGAGTCTCGCTCTGTTGCTAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGCGCCACCACACCCAGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGATGGTCTCGATCCCCTGACCTCGTGATCCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCTGGCCTCACTCTTCACTCTTTCAAGCCACATTAGGGCTGAAAATTCAAGTAGGTGTTAACTACAGAGAGTTGGGGAGTTTAGCTCATAGTTAGAAACGGGCTGTCTTCTCAGTTATCTCTACTGTGGAAGGTGAGAAAAGTTTGTCTTCCTTGTAGTTTCTGCCTGCTTCAAAGACCAGCAGTTCTAGTTCTCCTACCTCATGTATTCATTCACTAAAAAAAAAAAATTACTGTGCATATAGAACCTAGGGAGGAGATACCAAGCCGAATAAGGAGGAACTTACTGAGGTAGACAAAACCAGATCATTATAATACAGTGTTTAAGTGGAGAGAGACTGAGACAGATATGGACAGATATAAAGCGAGAAATGGCTAGGATGTTTTGAGAGCATAAGAGGAGACATCCAGTTTGCATTCGGTCACGGAAGGTTTCCTGGAAGAGGTAATGCTTGAGCTGAAACTTAAAGAGTAAACATAAGCTAGCCTGATAAAACATAAGAGTAGAAGGACATTCAAGCCAAAAGGGACAGCATGAGCAAAGGCATAGAATCTAGAAACGGCACAGGCACCAGCATGATGTGTTTGAAGAAACAAAGTAGCTCAGAGTTGTTAGAGCATCAAATGTGAGGCAGGGAATGGTAGACAAAGCTAGGAGACATATTTGAGCACTTGAATTTTCTCTTGGAGGCTTTGGGATACCGTTAAAAGTTATTAAGCTGAGGAATTACATGGCCGATTTGGGTTTAGATCAGTCACATTGGCAATAAGGGGAAAATACAATTGACAGGGACAAGACTGAAGGTAAGAGACAAGTTAGGCTGTCATTAATCTCAGCGAAACAAAAGGCAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTT
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Task1_train_1980
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This alteration occurs within gene UFC1 (ubiquitin-fold modifier conjugating enzyme 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Neurodevelopmental disorder with spasticity and poor growth
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CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTTCAGGTCTTTTGTGCTTGCTAAATTGAGTGGAGCCCATTCTATTCTCTGTTCTGGGCAGACCCCCACTTACCAGTATAGCCTTGTCTTCAGCTTTGCTAATGTTAGAAAAATTAGGTAAACATATTAAGAAAAAGTAGGCTGGGCGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTTCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGCAATGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAACCGGCTGGGTGTAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGAAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAACCCAGATTGCGCCACTGCACTCCAGCCTGTGCGACGGGAGCGAGATTCCATCTCAATAAAAATAAAAAATAAAAAAAATAACCACATACTTTTCTTTTGAGGAGAGGGGGACTGCCCTTGGCCCCAACTACTCTCTCAAAGACCTCATTCTCTGCTTTCAGTATGTGGAGAACAACAAGAATGCTGACAACGATTGGTTCCGACTGGAGTCCAACAAGGAAGGAACTCGGTAGGTAGACCCTCTTGGGAGGTGTGGGGTGGGAGTCTTATATGAGTTAGGCAATTTGGTATCCTAGCGCCCACTACCAAAGCTGCCCTGTCACATGTTAGCTGTCTCCACTCCCACAGCGCCAGAGTTCCCCAGTTCCCATCCTATGAGTCTCCCAGGCTGGTGGCCTAAGCCAAGATATCATTTGAGTACTGGAAGAATAGGCAAATTGGACTGAGGTTTGGTCTTTGTTACAGGTGGTTTGGAAAATGCTGGTATATCCATGACCTCCTGAAATATGAGTTTGACATCGAGTTTGACGTGAGTGTGATAGAGTGGGAAATATGAAGGTTAGTAGAAGGGGAGGGATTAGATGATGGGTAACAAGCTATCCTTTCTTGAAGGGACCAAAGAAAACTTTAAAAATGGGAGAGAAAAGCTGAGGTTTGAGGCAAGCATAAGTTATATTTACTCATCTCCACATCCAGAATCCTGGTATGGATGTGCTCCTTGGGGAGTTTTACTTAACATTTCAGTTTAACCAAGAAATATGTATGTCTGATTATATTAGTTCCTTTCTATCCTGATTCTGTTTTATTAAGGTTTTATAATTTCTCCAGATTCCTATCACATATCCTACTACTGCCCCAGAAATTGCAGTTCCTGAGCTGGATGGAAAGACAGCAAAGATGTACAGGTAGGACTGAATAGGAGATGGCAAAGAGTCAAAGAAAGCCTTAAGGAAGAACTTCGTGGCGGGAGGGAGAGCATCAGGAAGAATAGCTAATGGATGCTTGGCTTGATGTCTGGGTGATGGGATGATCTATGTGTAAATCACCATGGCACGTTTACCTATGTAACAAACCTATACATCCTGCATGTGTACCTCTGAACTTAAAAGATGTAAGGAAAAAAAAAAAAAGGAAGAACTTTGGAGGCAGAGATTTTCCCAGGGTCTGCTGGCCTAGTGGGGTGCCAGGCCCTCCTTTGCTGAGCCTAAGCAAAGTACTTAGCTGAACTTGTTCTCAATTCTGATCACTAGTAGTCTTCCTATGCCCCCAAGAGGCTGCTGTGCTTTATGGTAAACTTTGCATGTCAACACCTTCTTCATGTCCCTCTCATAGGGGTGGCAAAATATGCCTGACGGATCATTTCAAACCTTTGTGGGCCAGGAATGTGCCCAAATTTGGACTAGCTCATCTCATGGCTCTGGGGGTAAGTTTTGTGTATTTGGCATAAAAGGAGAAAGAGGGACTTAGGCCCTGAGCAGTACAAGAAAAGCAGCTAAGAATAAAAGGAATAACAGTGATGTCCCTTAAGCATGTTCCCCCAGAATCTGTCTCCAGGAAGGAGCTTCTAATGGAACAAGAAGCATTGACTGGTAGTAATCTCACAGGATTTTCCTTGTATTGCAGCTGGGTCCATGGCTGGCAGTGGAAATCCCTGATCTGATTCAGAAGGGCGTCATCCAACACAAAGAGAAATGCAACCAATGAAGAATCAAGCCACTGAGGCAGGGCAGAGGGACCTTTGATAGGCTACGATACTATTTTCCTGTGCATCACACTTAACTCATCTAACTGCTTCCCCGGACACCCTCCACCTCTAGTTGTTACTAAGTAGCTGCAGTAGGCATTGCTGGGGAAGAAACAAACACACACCAAACAGTACTGCTACTTAGTTTCTAAGGCTGCACAGGGAAGGGAAAGACTGGGCTTTGGACAATCTAGAGGTAATTTATATCCGCCCCCAGGTGGAGCAACATGCGATTCTGGAGGCACGGGGGTAACTGAAAGTGAGTACATATAGTCTTTCTGGTTTCTGGAGATAACCCATCAATAAAAGCTGCTTCCTCTGGTAGCCTGTGGTTCTCATTGGGAGCTGTTAACAGAGGGCAAGTGGGCTGAAACCTGAGGCACATGAACAGCTACGCCGGGTTGGGTTGGGAAAGAGTCGGAAATAGGGGATGCTCTGGTCAGGAGTGGGAATGAAATGTTGACTGTTCCCCCTGCTGCTCAGATCTACCTTTGTCCTTTAGTGGTGAGCCATGCTTTGCCCTACCGTGTTAGCCTGCAAGAAGTGGTTTTGCCGGACCAGCACTTCCCGCCCTCCAGGGATCTTCCCAGCCCTCTGTGAAGTGCTAGATGCTTCTCCACTGGTCTGCGGGCTGGACCCAGGCCTGCAGTTTGCCATACTTGCGCCCCTGCTGTTTGGGAAGGATCTGTGCTGTAAGCCTCGCGGCCATACTACGACTGTCAGATCTCCATCCCTATGGGCTATAGGATGGGGCGACGGCACCCTATACCTCAGGGACTTGCTTTGGAGTCATGGATTAAAGACCTCTCTGGGCAGCGTTGAGAACCAGCGACCCTAAACTTGGCTGCGTTTCCATGGTGTCGATCGCGGAGCCGTGGGGGCGGGCTCACGCAAGCGCCAAGGGACCGGTGGGAGGAGTTCGGGTGTGGATGCGCAGGCGCTTTGAGAGACGGTGAAGCCGGTGGCCGGTGGCCGGGCGGGACCAACAAAGATGGCGGCGGCCCCTGCGGCGGGAGCGATCTGGGCAACGGCTGCGGCTAAAGCTGCAGCCGGGCCCACGGGGGGGCTGCACGGGGGTAGTAGGGGGTGGCCCTGAACTGGGGCCTGGCCCTGGCTGGCCTCTCCCGCCGCCTCACTGGGGGACAGGTACGGGCCGGGGCGTTATGGCATGGCGGGGTGTGGGGGGGCGCAGA
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CAATCTAAACTAGGCAGTTGTGAGGATAGAGAGGAGAGGTAGATTTGTAGAATATTCAGAAGGTAAAATTAGCATAACATGGATTAGTGTAGTAAGGGATAGGGAGGGTCAAAGATGATTCCCAGGTTTTTGCCTTGGGTGAATGCTCATACTGCCACCTGAAATTGATAATTCAGGAGGATAATTCAGGAAGTGTATCCAAAGGAATATAAAAAATTCCAGATGGAAATGCTGAGTTTGAAGTACCTGTGAAATGAAGGTCAAAACGTCAACATACAGTTGGATACTAAAGGCTGAAGTTCTGAGGAAAGATCTGGACCAAAGATGAAAATCTGGGAGTCATTAGCCTGTGGGTGTTAGTTGAAACCAGGACTATATGAGGCTAGAAGGGAGTTACCCAGGGAAGGAGTCTATCATTAAATGAGTTGTGGGCTGAGGGCAGACACTATCAGAGAAGTGAGAGGAGAATCCAGATGGTATCTTCAGGTCTTTTGTGCTTGCTAAATTGAGTGGAGCCCATTCTATTCTCTGTTCTGGGCAGACCCCCACTTACCAGTATAGCCTTGTCTTCAGCTTTGCTAATGTTAGAAAAATTAGGTAAACATATTAAGAAAAAGTAGGCTGGGCGTGGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTTCCAGCTACTTGAGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGCAATGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGTCTGGGTGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAAAAAAAACCGGCTGGGTGTAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCAGGTTGATCACCTGGGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAAAAATTATCCGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGACTGAGGAAGGAGAATCGCTTGAACCTGGGAGGTGGAAGTTGCAGTGAACCCAGATTGCGCCACTGCACTCCAGCCTGTGCGACGGGAGCGAGATTCCATCTCAATAAAAATAAAAAATAAAAAAAATAACCACATACTTTTCTTTTGAGGAGAGGGGGACTGCCCTTGGCCCCAACTACTCTCTCAAAGACCTCATTCTCTGCTTTCAGTATGTGGAGAACAACAAGAATGCTGACAACGATTGGTTCCGACTGGAGTCCAACAAGGAAGGAACTCGGTAGGTAGACCCTCTTGGGAGGTGTGGGGTGGGAGTCTTATATGAGTTAGGCAATTTGGTATCCTAGCGCCCACTACCAAAGCTGCCCTGTCACATGTTAGCTGTCTCCACTCCCACAGCGCCAGAGTTCCCCAGTTCCCATCCTATGAGTCTCCCAGGCTGGTGGCCTAAGCCAAGATATCATTTGAGTACTGGAAGAATAGGCAAATTGGACTGAGGTTTGGTCTTTGTTACAGGTGGTTTGGAAAATGCTGGTATATCCATGACCTCCTGAAATATGAGTTTGACATCGAGTTTGACGTGAGTGTGATAGAGTGGGAAATATGAAGGTTAGTAGAAGGGGAGGGATTAGATGATGGGTAACAAGCTATCCTTTCTTGAAGGGACCAAAGAAAACTTTAAAAATGGGAGAGAAAAGCTGAGGTTTGAGGCAAGCATAAGTTATATTTACTCATCTCCACATCCAGAATCCTGGTATGGATGTGCTCCTTGGGGAGTTTTACTTAACATTTCAGTTTAACCAAGAAATATGTATGTCTGATTATATTAGTTCCTTTCTATCCTGATTCTGTTTTATTAAGGTTTTATAATTTCTCCAGATTCCTATCACATATCCTACTACTGCCCCAGAAATTGCAGTTCCTGAGCTGGATGGAAAGATAGCAAAGATGTACAGGTAGGACTGAATAGGAGATGGCAAAGAGTCAAAGAAAGCCTTAAGGAAGAACTTCGTGGCGGGAGGGAGAGCATCAGGAAGAATAGCTAATGGATGCTTGGCTTGATGTCTGGGTGATGGGATGATCTATGTGTAAATCACCATGGCACGTTTACCTATGTAACAAACCTATACATCCTGCATGTGTACCTCTGAACTTAAAAGATGTAAGGAAAAAAAAAAAAAGGAAGAACTTTGGAGGCAGAGATTTTCCCAGGGTCTGCTGGCCTAGTGGGGTGCCAGGCCCTCCTTTGCTGAGCCTAAGCAAAGTACTTAGCTGAACTTGTTCTCAATTCTGATCACTAGTAGTCTTCCTATGCCCCCAAGAGGCTGCTGTGCTTTATGGTAAACTTTGCATGTCAACACCTTCTTCATGTCCCTCTCATAGGGGTGGCAAAATATGCCTGACGGATCATTTCAAACCTTTGTGGGCCAGGAATGTGCCCAAATTTGGACTAGCTCATCTCATGGCTCTGGGGGTAAGTTTTGTGTATTTGGCATAAAAGGAGAAAGAGGGACTTAGGCCCTGAGCAGTACAAGAAAAGCAGCTAAGAATAAAAGGAATAACAGTGATGTCCCTTAAGCATGTTCCCCCAGAATCTGTCTCCAGGAAGGAGCTTCTAATGGAACAAGAAGCATTGACTGGTAGTAATCTCACAGGATTTTCCTTGTATTGCAGCTGGGTCCATGGCTGGCAGTGGAAATCCCTGATCTGATTCAGAAGGGCGTCATCCAACACAAAGAGAAATGCAACCAATGAAGAATCAAGCCACTGAGGCAGGGCAGAGGGACCTTTGATAGGCTACGATACTATTTTCCTGTGCATCACACTTAACTCATCTAACTGCTTCCCCGGACACCCTCCACCTCTAGTTGTTACTAAGTAGCTGCAGTAGGCATTGCTGGGGAAGAAACAAACACACACCAAACAGTACTGCTACTTAGTTTCTAAGGCTGCACAGGGAAGGGAAAGACTGGGCTTTGGACAATCTAGAGGTAATTTATATCCGCCCCCAGGTGGAGCAACATGCGATTCTGGAGGCACGGGGGTAACTGAAAGTGAGTACATATAGTCTTTCTGGTTTCTGGAGATAACCCATCAATAAAAGCTGCTTCCTCTGGTAGCCTGTGGTTCTCATTGGGAGCTGTTAACAGAGGGCAAGTGGGCTGAAACCTGAGGCACATGAACAGCTACGCCGGGTTGGGTTGGGAAAGAGTCGGAAATAGGGGATGCTCTGGTCAGGAGTGGGAATGAAATGTTGACTGTTCCCCCTGCTGCTCAGATCTACCTTTGTCCTTTAGTGGTGAGCCATGCTTTGCCCTACCGTGTTAGCCTGCAAGAAGTGGTTTTGCCGGACCAGCACTTCCCGCCCTCCAGGGATCTTCCCAGCCCTCTGTGAAGTGCTAGATGCTTCTCCACTGGTCTGCGGGCTGGACCCAGGCCTGCAGTTTGCCATACTTGCGCCCCTGCTGTTTGGGAAGGATCTGTGCTGTAAGCCTCGCGGCCATACTACGACTGTCAGATCTCCATCCCTATGGGCTATAGGATGGGGCGACGGCACCCTATACCTCAGGGACTTGCTTTGGAGTCATGGATTAAAGACCTCTCTGGGCAGCGTTGAGAACCAGCGACCCTAAACTTGGCTGCGTTTCCATGGTGTCGATCGCGGAGCCGTGGGGGCGGGCTCACGCAAGCGCCAAGGGACCGGTGGGAGGAGTTCGGGTGTGGATGCGCAGGCGCTTTGAGAGACGGTGAAGCCGGTGGCCGGTGGCCGGGCGGGACCAACAAAGATGGCGGCGGCCCCTGCGGCGGGAGCGATCTGGGCAACGGCTGCGGCTAAAGCTGCAGCCGGGCCCACGGGGGGGCTGCACGGGGGTAGTAGGGGGTGGCCCTGAACTGGGGCCTGGCCCTGGCTGGCCTCTCCCGCCGCCTCACTGGGGGACAGGTACGGGCCGGGGCGTTATGGCATGGCGGGGTGTGGGGGGGCGCAGA
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Task1_train_1981
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This variant affects gene PPOX (protoporphyrinogen oxidase) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; not provided
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ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT
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ACTGCCTCCCAAATGCTCCTTAACCAGGGCTTAGATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCACGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT
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Task1_train_1982
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A mutation in PPOX (protoporphyrinogen oxidase), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Variegate porphyria
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GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
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GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCACCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
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Task1_train_1983
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This mutation is located in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Variegate porphyria, childhood-onset
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GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
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GATCTGAATCGATTTTCTGCCTCCCGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCACCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTG
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Task1_train_1984
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Consider this mutation in PPOX (protoporphyrinogen oxidase) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Variegate porphyria
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CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACT
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CGAGGCTCCATCAAAAAAAGTTCAGTAGGTGTAGACTTTCCACTGCAGCGACTGAGCCTAGGGGACTTTGCCAGTGACAAAGCCGGTGAGTCTGGTGGGGAAAGTCCTAAGGAGCCAAAGGAGTGGGGGCACAGCTCTGATTATAGAACTTGATCATCTCCAACCCCGCAGGAAGTCCTGTATACCAGCTGTATGCCCTTTGCAACCACTCAGGCAGCGTCCACTATGGCCACTACACAGCCCTGTGCCGGTGCCAGACTGGTTGGCATGTCTACAATGACTCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCCCCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACT
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Task1_train_1985
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The variant affects gene PPOX (protoporphyrinogen oxidase), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Variegate porphyria
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TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATC
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TCTCGGTGAGAATAGCCTCCTATTTACATCCTGCCCCATTCCCACTCAGCCCTGACACCCTCCCCTTCTATGAAGCTCCAGGAGAGCAGAGTGCCAGGTGAAAGGAGAGGTGGAGGTCTTGCCTGATCATTTCCTGGATGCTCTGAGGTTCGGTCTTGTAGGGAGAAGGGAGTAAACAGGAATGACCACAACCCTTTCCCGATCTCCTTTTTTCCTAGTGTCTCCCCTGTCAGTGAAAACCAGGTGGCATCCAGCGAGGGCTACGTGCTGTTCTACCAACTGATGCAGGAGCCACCCCGGTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTTGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATC
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Task1_train_1986
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Gene PPOX (protoporphyrinogen oxidase), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Variegate porphyria
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GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATC
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GTGCCTGTGACACCTCTAAGCTCTGGCACCTGTGAAGCCCTTTAAACACCCTTAAGCCCCAGGCTCCCCGTTTACCTCAGAGACGTCTATTTTTGTGTCTTTTTAATCGGGGAGGGGGGAGGGGGTGGTTGTAGCTCCATTATTTTTTTTATTAAAAAATACCCTTCCACCTGGAGGCTCCCTTGTCTCCCAGCCCCATGTACAAAGCTCACCAAGCCCCTGCCCATGTACAGCCCCCAGACCCTCTGCAATATCACTTTTTGTGAATAAATTTATTAAGAAAAAATGATGTGCTTATTTGTATTTTTGCTTAGGGGGTGATAGAGAACTGAGCCAAATTGGAGTCTTCTTGGGACCCAAGTTCCCTCTCTAACAGGTGGGGGCGCTCTCAGAGCCGAGGGGGAAGGTTTCGGGGATGGTGCTGGACCCGGACCTGTGTCCCCCAGCAGTGAAGGTTATGTACTGGGAGGAAAAGAGGAAAGGCATACTTGAGTGAGGCTGCGTGCAGGCTCTGGGGCGACTGGTTTGGTCGGCGATGGGGGAGTGCCACTGTTGACAAACACTGGGTACGTTGCCGGGCGGCCCTAGCTCCCGTAGGCCCGGTCTGTTGCTAACATCAAGGAGCTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCACGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATC
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Task1_train_1987
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Gene PPOX (protoporphyrinogen oxidase) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not provided
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CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
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CTGTTTATGGAGCCGCCTCCCCGTGGACTGGCCTTAAGTGTCCCTATCTATTCTCCCTACGACCAAAGCTCCTGCGGCCTTCCCTCTAGGGTTGTCACCCTAGCTGGACCTGGTAAGCTTGTGCTGGGGAACGCTAACTCCAGCATTAAGCGCTCGCCGCCTCGGTCCTGAGGAGGGCAGTGACGGGTACGGCCGCTCACTCCCAGCTCGGCGCTAACACGGTTAACCTCCAGCTCTTACAGCTGCCGTCGCTCCGCCTCTGCCAGTTCAATGTTTTATTGGTGAACGTGATCCGGGGCCTTCCAAGTCCCGCCAATCCAGATGTAGGAGAGGTAGGGTTAGGCGCGTGCCGCGAGAACAGAGTGGACGGAGCGTAGGAGAGACCGAAAAGGCTGGGGGTGGGAGTAGCGGATTTGAAGCACTTGTTGGCCTACAGAGGTGTGGCAAGCAGAGCACCTCAGAACTCAGGCGTACTGCCCGCCGCCCGAGCCCTGCGAGGGCCGATAGCGAGGGTGTGGCCCTTATCTGCACCCAGCAGAGCGCCGGCGGGGTACGGTCTTAGGACCTCGATCTCCTTCTCCCTCATTTTCTCTCATCCCTACCTATTGTGGGTGAGTCCTGGCCCCTGGACGGGGACCTCGCTGTTCCACCAGCCCATCCGTGCACACTTAGTTTCCCCTAAAGCAGTGAGTGGCCGGGATAGAACTCAAAACCGGCGGGGCTTCTGGAGCGCAGGTTGTCCCCGGTCTGCCTGTCCATATCGCCCCCTTTCCCCCAGGTTTCCGCATGGGCCGGACCGTGGTCGTGCTGGGCGGAGGCATCAGCGGCTTGGCCGCCAGTTACCACCTGAGCCGGGCCCCCTGCCCCCCTAAGGTGAGTGCTCCACTTGTGCCAGAGGGAGCTTCATTTAATGCTCTTCCCATTTCCATCAAAAGCTAGATGGATCCTGGCCCTCTGAATATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGTGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCT
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Task1_train_1988
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Given this variant in gene PPOX (protoporphyrinogen oxidase) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; not provided
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ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACT
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ATGCCTCTTCCCCTCCCCTCCTGACCTCTCGCCGGCGGCTACAGGCGGTGCTGCAGTGTCTCTCCCTCTTGTCGCCAGGTGGTCCTAGTGGAGAGCAGTGAGCGTCTGGGAGGCTGGATTCGCTCCGTTCGAGGCCCTAATGGTGCTATCTTTGAGCTTGGACCTCGGGGAATTAGGCCAGCGGGAGCCCTAGGGGCCCGGACCTTGCTCCTGGTGAGAGGCTTGTGGGATGTCTAGGAGAGGTTGTGGAGGGGGCTTCCATTGGGGAATAGAGTTTAGGGGAGGAAGTATGTTTGGTGGGTCAGATCTTCCCTTAGTTTCTCCTCTTCTGAGGGCATGTGGAGAGCAGGTTTCTGAGCTTGGCTTGGATTCAGAAGTGCTGCCTGTCCGGGGAGACCACCCAGCTGCCCAGAACAGGTTCCTCTACGTGGGCGGTGCCCTGCATGCCCTACCCACTGGCCTCAGGTAACACCAGCACCTCCGCTCCTTTTACTGTGCCCTCATCCTCATATGCCTTCCATTTCTTTCTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTATCGCTCTCGCCCAGGATGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACTTCCGCCTTTCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTACCACCACGTCTGGCTAGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTCGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGACCTGCCTTCCATTTCTTCATCTCCCTGTCAGCCTTCCCAGCAAAAGGAAGCCAAATGAGTGGAAATGACCCCAGCGCCTGGAGCTGGGGAGGTATGTCAGGAGCTTCCCCCTCACTATGCCTTTCTCCATGCAGGGGGCTACTCCGCCCTTCACCCCCCTTCTCCAAACCTCTGTTTTGGGCTGGGCTGAGGGAGCTGACCAAGCCCCGGGGCAAAGAGCCTGATGAGACTGTGCACAGTTTTGCCCAGCGCCGCCTTGGACCTGAGGTGACACTTGCCCAGAGGCCCCAAACCTCTTCCCTCCTAAACCAGCTGCAGAGCTCCCTGTTCAAATCTACCACCTAGGGGCTCTTCTGTATCATTTGGGGATGCCCTCTTCTCTTCATACCCCACCCCCTCATAATTCCCAAAACTCATTATTGGGAGTGAAGGCCTTCATTTCCATCCGTCACAGTGGGAATGTCCCCCAACCCAAACCCTATCCCACCCTCATTCCCTACCAAATAGGGGCTGTGGAAATCAGTCAGTGTAGATTATTTTTTCGCTCCTTAGTCCTAGTCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGACGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACT
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Task1_train_1989
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Here’s a variant in PPOX (protoporphyrinogen oxidase) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Variegate porphyria, childhood-onset
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TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGACTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACTGTATAGAGAGTGGGCGCCAGGCAGCAGTCAGTGTCCTGGGCACAGAACCTAACAGCTGATCCCCAACTCTCATTCATGAAAATAAAAATTGCTGGAGCTTGGCTTGGTCTGGCTGTTCTATCACCTATAGGCATAAGAATGCGGGGCAGCAAAGAGGCAAAGTGTGCCTGGGATGCAGAAAGCAGGAGCAGATGCGAGACAAAGTCCTTTATTAGAAAATATATCAAAATCCCAGCCCCCTGAGCCAGGACCAGAAGAGGGAGCTATTCCAGCATAGGCAGAAAATGCCCAGGGAGGGGCTTCCTTCACCAAACAACTTCCCGGGAACCATAAATAGAATAAATATTCACAGAGGTCCGAGGAGAAGCCAGATCACTCTTCTCTCCATGGAAGAGGGAGGGGCTTGGGGTCCAGCCCTGCTCCTACTCTAGGGGCAGGGACTCCTAGGAATCGTCACATAAAATCATGACATCAAGGATTCACAGTCATAAGCCCTACAGGAGACCCTAGAGAGAGGGACCCCTCAGGTCTACAGGAGCCCAGCTCCAGTCCAGCAGTGAGGGAGAGGCCCCTACCCCCTAGCACGGCACCAGAGTTCAGTTCCCTCACATCCCTCTGAGAACAGTGAGGAGCTGAGGGTGGGGAGAATACAACCCCATGAATTCGGTTTCATGATTAAGGTAGACAGGAAGGAGGAGTCAGTGTGAACCTCGGAGGGCTGTGTGGTTGGCAGTAGATAGAGGCCCAGGCCTGGCTGGGGGCCGGCGTTGCAGCATCTCTTGACGGAAGGCTTGGGAGGAACCAGGTGGGTAACGTGGCCCAGAAGGAGCCCGAGGACCCCGAGGGTCAGTCCCAATGTCTGCTGTGATGTTGGTATAAAGAGGCCCCAGCTCTCGAGCCAGCAACTGGTATGTCAGTGAGTTCATCCCATCTTGCGTCCAGGAATTCTGGGTACGGACCAGGAGGTCAAATCTGAGGGTTAGAGGTTGGAGACTAAGACCCAGAAAGGAACAGCCAGAAATCTAGGGACCTTTAGGATTTTCCTGGCTAGGGGTACAGAACCCTGAGGATCCAGTAACAATTCCCAGGCAGTCCTTCCTTCTTCCTACCTGTGGGGATTTTCCTCATTGCCCTTATCTCCTCGGTGCTTCACCATCTTATAGTGTCCTACAGATGTGGGGGGCCGAGAGATCTTCATCCCAGCCAGGCGCACCCTATGGGAAAAGTGAGGGTATCATGGGGGATCCAGAGTAGAGAAAAGCAAGGAAGGGATTAAATGTTTCTGTACACACAAAAAAACAACTATTACTTAGTAGGCAAAAGAAAAAAAAAGCCCAGGACAGAAGTCAAACAGAAAGAAGGAAATGGCTGAAGAGAATATAAAAGCTGGATGTATC
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TCTCACCCTTAAGGTGGCGTCTCTAGCCATGGACAGTCTCTGCCGTGGAGTGTTTGCAGGCAACAGCCGTGAGCTCAGCATCAGGTCCTGCTTTCCCAGTCTCTTCCAAGCTGAGCAAACCCATCGTTCCATATTACTGGGCCTGCTGCTGGGGGCAGGTGAGGGGGGATTGATTCAGAGGGTGAAAATATTAAGTACTGCCAAAGTGAGGGAGTGGGGACAAGGGGTGCTATTCAATGATTCTTTTTTTCTTTTTTGAGACGGAGTCTTGCTCTGCTGCCTAGGCTGGAGTGCAGTGGTGCAATCTCAGATCGGCTCGCTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAAACATGTGCCACCACTCCCAGCTAATCTTTGTATTTTTTTGTAGAGATGCAGTTTCACTATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTACAGGTGTGAGCCACTGCATCCAGCCTCAATGATTCTTCTTTGCTTCCTCTGCAGGGCGGACCCCACAGCCAGACTCAGCACTCATTCGCCAGGCCTTGGCTGAGCGCTGGAGCCAGTGGTCACTTCGTGGAGGTCTAGAGATGTTGCCTCAGGCCCTTGAAACCCACCTGACTAGTAGGGGGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTCCAGGCAGAAGGGCGCTGGAAGGTAGGGGAACCCCTGGAGTGTAATGAACCTGTCAGTGTTTCCATCTTTATCCAAGTGGCTTAACTAGGCCAGGGCCGATAGGACTGGAGTTCCTCATTGTTTTTGTGCCTTAGAAGCTACTTAGACATGGGCTACCCCAGAATCCTAGGCCCTATTTGTGAACCTTCCTCAAAGAGCCTATGCAAGTCTGTGGATAGAAGTAGTACTTATAAGTGGCTTAGAGATAGGGGAAAGAACCCAGCTTCACTGAACATTTCAGAACAGCCACACTGGCCTGTCTGGTCCACTTCCTGGAGTACACAGAGGAATGATTTTTTGTGAAGTCTACATAGTCACCCAATCTCTTCATCCTGGGTCAGTACACAGTCTCCCCGGCCACATGGGTGCCTGGGAAACTGAGAGTGAGGCACCAGAAGTCTCTTTTCACTCATCAAATTCTCATTTTCTGGGTCTCTCAAATGTTTTCATGCTCTCAGGTATCTCTAAGGGACAGCAGTCTGGAGGCTGACCACGTTATTAGTGCCATTCCAGCTTCAGGTAATGGAATAGCCACCTTCCCCTTCCCCAACCCCTACCAGTGAGAAGCAAAAGCTATACCTTCCTGGGTCAGCAGGACCACACCATGCCCCTGAACTGGTCATCTCTATGGGAGTCTAATCCCAAAGAGGACTGACAACTGTAATGGGAATGCCTTCTGAGTCAGGCCTCTGCCTGATCTCTAGTGCTCAGTGAGCTGCTCCCTGCTGAGGCTGCCCCTCTGGCTCGTGCCCTGAGTGCCATCACTGCAGTGTCTGTAGCTGTGGTGAATCTGCAGTACCAAGGAGCCCATCTGCCTGTCCAGGTATGATAAAGGGACGGAGAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGTGGGCAGATAACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACGAAAAATACAAAAATTAGCCAGGTGTGGTGGCTTGCACCTGTAATCTCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCTCGCCATTACACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCCCCCCCACCCCCCCAAAAAAATGGGAAGGAGAGACAGCCTCAGCTAGAGCCCTTTCCTTCTGACGCATGAATGTCCTTCTCTCCAGGGATTTGGACATTTGGTGCCATCTTCAGAAGATCCAGGAGTCCTGGGAATCGTGTATGCCTCAGTTGCTTTCCCTGAGCAGGACGGGAGCCCCCCTGGCCTCAGAGTGACTGTGAGGAGGAGGAAACTTTGCCTAGTGGCATTTCCAGAGGGCTCCTCTGTGCTCCATTGTAGGCAAGGCCAGACTGATCAGTGCTATATTCCCTCCTTAGGTGATGCTGGGAGGTTCCTGGTTACAGACACTGGAGGCTAGTGGCTGTGTCTTATCTCAGGAGCTGTTTCAACAGCGGGCCCAGGAAGCAGCTGCTACACAATTAGGACTGAAGGAGATGCCGAGCCACTGCTTGGTCCATCTACACAAGGTAAGTTGGGATAAACTTCCCTCAGCTCTCCACTGAAGGCCTTGAAGACAGAGACTGGAACATTTGTCACTGTATGTCAGCCAAGGCCTAGGACATCAATAATAAACTTTTCCCTGCATCCTCTCCTCTCTTCTCAGAACTGCATTCCCCAGTATACACTAGGTCACTGGCAAAAACTAGGTAAGTTGGGAAAACAGCTGGGCTGAGGAGGGCCAAGGACATCAGACCCCCAGCTAAAACATTCCTTTCATCCTTTCCTTCCAGAGTCAGCTAGGCAATTCCTGACTGCTCACAGGTTGCCCCTGACTCTGGCTGGAGCCTCCTATGAGGGAGTTGCTGTTAATGACTGTATAGAGAGTGGGCGCCAGGCAGCAGTCAGTGTCCTGGGCACAGAACCTAACAGCTGATCCCCAACTCTCATTCATGAAAATAAAAATTGCTGGAGCTTGGCTTGGTCTGGCTGTTCTATCACCTATAGGCATAAGAATGCGGGGCAGCAAAGAGGCAAAGTGTGCCTGGGATGCAGAAAGCAGGAGCAGATGCGAGACAAAGTCCTTTATTAGAAAATATATCAAAATCCCAGCCCCCTGAGCCAGGACCAGAAGAGGGAGCTATTCCAGCATAGGCAGAAAATGCCCAGGGAGGGGCTTCCTTCACCAAACAACTTCCCGGGAACCATAAATAGAATAAATATTCACAGAGGTCCGAGGAGAAGCCAGATCACTCTTCTCTCCATGGAAGAGGGAGGGGCTTGGGGTCCAGCCCTGCTCCTACTCTAGGGGCAGGGACTCCTAGGAATCGTCACATAAAATCATGACATCAAGGATTCACAGTCATAAGCCCTACAGGAGACCCTAGAGAGAGGGACCCCTCAGGTCTACAGGAGCCCAGCTCCAGTCCAGCAGTGAGGGAGAGGCCCCTACCCCCTAGCACGGCACCAGAGTTCAGTTCCCTCACATCCCTCTGAGAACAGTGAGGAGCTGAGGGTGGGGAGAATACAACCCCATGAATTCGGTTTCATGATTAAGGTAGACAGGAAGGAGGAGTCAGTGTGAACCTCGGAGGGCTGTGTGGTTGGCAGTAGATAGAGGCCCAGGCCTGGCTGGGGGCCGGCGTTGCAGCATCTCTTGACGGAAGGCTTGGGAGGAACCAGGTGGGTAACGTGGCCCAGAAGGAGCCCGAGGACCCCGAGGGTCAGTCCCAATGTCTGCTGTGATGTTGGTATAAAGAGGCCCCAGCTCTCGAGCCAGCAACTGGTATGTCAGTGAGTTCATCCCATCTTGCGTCCAGGAATTCTGGGTACGGACCAGGAGGTCAAATCTGAGGGTTAGAGGTTGGAGACTAAGACCCAGAAAGGAACAGCCAGAAATCTAGGGACCTTTAGGATTTTCCTGGCTAGGGGTACAGAACCCTGAGGATCCAGTAACAATTCCCAGGCAGTCCTTCCTTCTTCCTACCTGTGGGGATTTTCCTCATTGCCCTTATCTCCTCGGTGCTTCACCATCTTATAGTGTCCTACAGATGTGGGGGGCCGAGAGATCTTCATCCCAGCCAGGCGCACCCTATGGGAAAAGTGAGGGTATCATGGGGGATCCAGAGTAGAGAAAAGCAAGGAAGGGATTAAATGTTTCTGTACACACAAAAAAACAACTATTACTTAGTAGGCAAAAGAAAAAAAAAGCCCAGGACAGAAGTCAAACAGAAAGAAGGAAATGGCTGAAGAGAATATAAAAGCTGGATGTATC
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Task1_train_1990
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This mutation is located in gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGCAGGTGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGTGTGCGCCTGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCTACTGCACTCCAGCGCCTGGGCAACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAGATTAAAAAAAAAAACCCTCCCAGATACTCTTAAGACTGATTGCCTTTCTCCTTCAGTATCTGAAGTTTTTTGTTTGTTTTGTTTTTTTCCCTACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTC
|
ATCCAGCCCAGTGTCGGGGTGAACAGTGACTAGAATGTGATTCCCCAAGAGAGCCTCGGCGATGACAGTTTCTGGTCCTGGAGTCTATGGGTTAACCCCTGTAGCATTAGCCCCCGTCACAGTGACATCAGAATAAGAACAGGCTGTCCCAGCTAGTAGCGTCTTAGCTCCACCCTCTTCCTGGAAGCTGAAGCTGGTTCAGCAGACAGCTAGGACTTGGCTTTTTGGCATTCTGGAGGAAGGACCATTTCTACCTGATGCTCTGTCTTCCTTAAATACCTCACTCTGGCCGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAAGCAGGTGGATTACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAAGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGACGTGGTGGTGTGCGCCTGTAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATGGTGCTACTGCACTCCAGCGCCTGGGCAACAGAGCAAGACTGTGTCTCAAAAAAAAAAAAGATTAAAAAAAAAAACCCTCCCAGATACTCTTAAGACTGATTGCCTTTCTCCTTCAGTATCTGAAGTTTTTTGTTTGTTTTGTTTTTTTCCCTACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACAAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTC
|
Task1_train_1991
|
A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATA
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GTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCAGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATA
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Task1_train_1992
|
A variant affecting Chromosome 1, within the gene NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 6
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CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCCAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATAATC
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CAGTGGCGTGATCTTGGCTCACTGCAACCTCTGCCTCCCGAGTTTAAGCAATTCTGTTTCAGCCCCCAGAGTAGCCAGGATTATAGGCACGCACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACTGCAAACTCCACCTCCCAGGTTCAAGCGAGTCTCGTTCCTCAGCCTCCCAAATAGCTGGGATTACAGGTACTCACCACCACGCCCAGCTAATTTCTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGAGCCACCCTGACTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGACCAGTATGTCAGTTTTTTAAATTTTTATTATTTTTTGAGATGGAGTTTTGCTCTTGTTGCCTAGGCTAGAATGCAGTGGCATAGTCTTGTCTCACTGCAACCTCTGCTTCCTGGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCTGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACGTGCCCGGCCAAGGACTCTTGACAGTGGTATCCTGGAGCTAGCTCATACGGGCTTGCAAGAGTGCAGTTGTTAAATTTTCAGGAGTTTTGTGAGCCAGTTGTTGAACATAGCCATTGTCAGAAATTAATTTATATAAGCTTATGATTTAATACATTATATTAAAAGCAAAGGTAAGATTAAATATTCAAAGCTCATCACTTCATTATTTTACCACATTTTACTATGCTCTGCCTTTGAGGTATTTGCTTTGAATGTGTCTGTATGGTGGAAATACTGTATAATGGTGTGGTATTCTTCCCAATGCTGCATTCAGTTACATGATATTGGTAACTTAAAATTGGCCATTGTGGGAGTATTTTTACCATGGAAATTGGCAAACATGACAAATCAGAGTCCTCCCTCACTTTGGAGAGCCAGTTTTTAAACATTTACTAGAATACTACTGGTTTTTGGGATATTTTTACCTGCCTTGTTGGGGCTCCTGAGACTAGAAAGGCTTATACAGCACCAACTTCTGGTGCCGACTGAGAGCAAGGCTTCAGGCAGCCAGACTGTGGGCTCCTGAGCCTGTTAGATGTGACCCACATTCCTCCCTCTTCCCAGGCCCTTCCATACTTTGACCGGCTAGACTATGTGTCCATGATGTGTAACGAACAGGCCTATTCTCTAGCTGTGGAGAAGTTGCTAAACATCCGGCCTCCTCCTCGGGCACAGTGGATCCGAGGTATGTCCCCCCAACTTTTTCTGTGGCCCACTGTGAGCATAGCATAGTGCCTTTTCCACCACTTCCCCGTTGAACCCAAGCTTAGTGTTCAGACCCCAGGCTCTGCCCAGACCTCTCTGTCCGCCTCAGTGCTTGGCTCCTATATCCTGTCTTCTCCTTGTCTTCACAGTGCTGTTTGGAGAAATCACACGTTTGTTGAACCACATCATGGCTGTGACCACACATGCCCTGGACCTTGGGGCCATGACCCCTTTCTTCTGGCTGTTTGAAGAAAGGGAGAAGGTAAGAGTGGGAGGAAAGGATAGGAATAGGGAAGGAAGTGCAGGAAGTAGAGAAGGTATAAAGGAGACAGGAGATTAAAAGAAGAGAGAGAACATGGGAGAACATTTAGAGGGGGAAGGTATGTTTAACTTGGGTTATATTTGTAGAAACTATATCATGAGGGGTTGGTTGGGCACAAGAAGGCAGAAAGTGGGGGAGTAGGCCATCATAGGACCTGGGGGCCTGGGACTTTGACACTAATTCCCAGCACGTTCTATGAAGATGTTTGAGTTCTACGAGCGAGTGTCTGGAGCCCGAATGCATGCTGCTTATATCCGGCAAGGAGGAGTGCACCAGGTGAGCAGGTCCCCGGCTTCCCCAAATGTCCAGCCCAGGCCTATTTTCCCTGTGGCCACTGGAGGGCAGTGCTGGATGATGGAAACTCCAAACCTGTATCGCTGGGGGAGGGGGTGCTGAGAGGGCTCTCCTTAGTGAAGGCTATGCCACATTCAGTAGCACTTCCGTTTGGCTTCTAGGACCTACCCCTTGGGCTTATGGATGACATTTATCAGTTTTCTAAGAACTTCTCTCTTCGGCTTGATGAGTTGGAGGAGGTAAGCTAGGAGTCAATGGGAAAAATCTCTCCCCCACAAGAAGGGCTAGAGAAATACAGAGATATTTGAAGAGTGTGAGGAAGAGTATTAACACACCAGTTTTCTTGATCAATAGTTGCTGACCAACAATAGGATCTGGCGAAATCGGACAATTGACATTGGGGTTGTAACAGCAGAAGAAGCACTTAACTATGGTTTTAGGTGAGGGGAATACAACTTCTCTCCGTAGGAGTGGGGGTGGGAGTGGGGGAGTTCCAGCCTAATATCTTGTCTTTGAAGACTTGTTGGCATCCTCCTAGTCATACCCTGAATGTGAAGGATCAACAAGGGAGGCTAAGGAAGAAGGAGCCTCCTTACTTAGTTTGTGGAGAGTGGCCCTTATTCCCATTATGCTCTCCACAGTGGAGTGATGCTTCGGGGCTCAGGCATCCAGTGGGACCTGCGGAAGACCCAGCCCTATGATGTTTACGACCAGGTTGAGTTTGATGTTCCTGTTGGTTCTCGAGGGGACTGCTATGATAGGTAAGGCCCCAATCCTTTCTTGGCTGATATTCCAGCTAGTTTCCCCTGCCTCACTCTTCTCTTTGCCACTTCCTTCTTTACCCTACTTCTCAGTGTCTGTGGGAGCTCTTGTGTGTGTTAGACGAGGTTGCTCTCAAAACACTTTCACATATATGGAATCTTACTTATTTTTTTCTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGTTGGAATGCAATGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGAGCCACCACGCTCAGCTAATTTATGTATTTTTAGTAGAGACGGGATTTCTCCATGTTGGTCAGGCTGGTCTCAAGCTCCTGACCTCAGGTGATCTACCCGCCTCGGCCTCCAAAATTGTTGGGATTATAGGCGTGAGCCACCACACCCGGCCTATGGCATTCTTTTTATCTTTACATTATCCTTGTCTTAGATGGAGCTAGCTTTGGCTGCATTTTATAGCTGAGAAAGCTGAGGCATAAAAGTTAGGGATTAGCTGGGATTATTCTTCAGGAGTGGTCGAGACTAGAATCCTCCTGATCCAGTGTTCTTTCTAGTAGATCCTAAGCTTCAGATTCTCCTCCTGGGCCAGGCACAGTGGCTCATGTGTGTAATCCCAGCATTTTGGGAGTCCAAGGTGGGTGGATCACTTGAGGTCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTACATGCCTGTAAGTCCAGCTACTTGGGAGGCTGAGGAAGGAGAGTTGCTTGAATCTAGGAGGTGAAGGATGCAGTGAGCTGAGATGGAGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAAAAACGAAAACCAAAAACAAATTCTCCTCCTGTTTTCTCACCCTGAGTCAGATTTGTTACTGTGTATTGTTTTTTTTATTTTTGTTTGTTTTATTTTTTGAACCTGGTAGCTACTGCTGTTATTTTTGTTTGTCCATTTGACTCTCACCCATCCTGTGGTCCAAAAAGTGCTTAAGGAGGTAATTAAAGAAATAAATACTACAGGCCATGTTCTGAGAAAATAAGGAGAGGGTTTGGGGAAGCACCCAAGAGTAGAAGCAAACGATTACAGGGGGCTGGGGTTGGTGGCTCATGCCTATAATC
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Task1_train_1993
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The gene MPZ (myelin protein zero) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Dejerine-Sottas disease
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1994
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A genetic alteration is present in MPZ (myelin protein zero) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Charcot-Marie-Tooth disease type 4E
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1995
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Here’s a variant in MPZ (myelin protein zero) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Roussy-Lévy syndrome
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1996
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With a mutation on Chromosome 1 in gene MPZ (myelin protein zero), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate D
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1997
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Gene MPZ (myelin protein zero) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease type 1B
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1998
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A mutation found in MPZ (myelin protein zero) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Charcot-Marie-Tooth disease type 2I
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Task1_train_1999
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An alteration has been detected in MPZ (myelin protein zero) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Charcot-Marie-Tooth disease type 2J
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCCGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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CATTATCTCAGTTGTTTACAAGTACATAAACAAGCTTACCAAAGTCAGGTAACTGTCCTGGGGATCACACAGCTAGAGAGTGGCTGGGATGTTTTAAAATTCAGATCTTGGTGAAGACAGATTCTGCGTTTTAACTCATGTAAAAGCAGAGACTGGCAGAGTTTACAACGTAGTATAATCTCACTGATTATTTGCTGAAGGTATGAATGTGTCTTGTGAGGCTATTTCAGAGTTCTTTCTAGTATACTATATAAGCCCACCCCAAAAAAACAAACTAAACAACTGAAGCCAAGTATGGAAGGTTGGGGATGGGATAAGGGGCAGGAATTATTCCCAGGAGGACTAGGAAATTCTAGACAAGGCAGCAGCTTCTGGAAATGTCAGTGTTTATTAAACATTTAAGGACATTTGGAGGTTTGAGAAGAAATATACAGAATGTAGAAAAATCCTAAGAATCCCCTGTGGCTGCAGTGCAGCCTCTTCCTCCCCCCCGCCCCCCCATTTCCCATTTGTTTTTCCTGCTTTTTGTTTGGTTGTTTAAAAACCATTTCTTAAGGCTCATTTGCCCCCTCCCCCACTCCCTGACCTATGAGGATCCATTCTCTCTCTCTGTCTCTCTCCTCAAGACCTGGAGTCCCAGAACAGTGCTCCAAAGTGGTCAGGGGGAACCAATGCTATACTGAAGTGTGAGGATCAGGGGCCCCTCTACTTGGGCTGGCTCTTCATTAAGGACTTAAGGGGGGCGTGAATTGCAAAAGCCACATGACGTCATTGGTCCTCAGTCATGGGTGTAAGGGCAGAGGATGAGCACAGGTAAACAAACAAAGAATGGATTAAAAAATAAAAAATAATAACCTAAATAAACCCTGAAGGAGAGTCTGATCTGGGTGCTCTGGGTATTAGCTGGGGGGACAGAGTATGGAGCTGGGCCACCTGGTAGAGGGGAGGGAGGGACGGGAGAGGAAACAGCCAGGGGGACAGGCTGGGGGATGCAGGAGATGGGAATGCCAGGTGGCCTGGACTTGAGGCAGAGGGTATCAAAGTCCCTTTCTTCTCAGTGCTCAGGTGGACAGGCACCAAACACACAGCCCCCGGGGCAGGTGAGGGGTAGGATTAGCTCCTGGGCTCCCAGAAAGCCAGGGGTGAAGGTGGGGGAGAATACAATTGCCTGGGGAATGAATTCTGGAATGAAACTTACATCTCAAAGGGAGGTGAGGGCAGGGCAGGGCGGGGGAGCAAAGAGGGAAAGCACCTAGACGGGGGTAAGAGGAGCCTAGGTCCCCCTGCTCTGGCAGGGCCTGGGGTGGGGGGGTGGCGATCACTTGTCCGAGTTCAGGCCCATCATGTTCTTGAGGGCGTTTTTGAGGCTGGTTCTGCTGGGGGACTTGACAGCAGGCCGGAGCTCCGGGCTCTGCTCATCCTTTCGTAGCTCCATCTCGATGACCATCACCTTTGGGCCTTTGGCGGACTCCACCCCTAACCCCCGATCCCCCGCCCGGCCCGCTAACCGCTATTTCTTATCCTTGCGAGACTCCCCCAGCCCCTTGGCCTTCTTCTCACTGACAGCTTTGGTGCTTCTGCTGTGGTCCAGCATTGCATACAGCACTGGCGTCTGGGGGAGGGGCGCACACATCAGTCACCGAGCGACTGGGGCTTGACTGTTCCCATCCCACCCCTCACTGCTGCCCGGCGGCTCCCAGGGTTCTCCTTCCCATCTTGTCTAGGCCCCAAGTCCCGCTAACCTGCCGCCCGCGCTTCGACGCGTCCTTTCCTGGCTTGTGCAATTTCCCCTTCTCCATAGCACTGCAAGAAGAGAGACTGCTGTACGTTTGGCCTCGCCGGAACCCCTTGCACCGCGGACACAGCTTCCTCTTCCCCTTGGCCCTCCCACCCACTGGAGTAGTCTCCGCCCAGATGGGGGATAGTGGGGAGAGGGGGAGGGGAGCTAGGCTCCGCCCCTTACCTGAGCCTCCTCTGCAGGGCCGCCTGCCTGCGTAGCCAGCAGTACCGAACCACGTAGAAAAGCAGCAGCAGCAACAGCACCACCCGGAGGACACCCCCGATCACAGCTCCCAGAACGACCCCGTACCTAGTTGGCACTAGGAGGGGTGGGAAAAGAAGTGGGAGAATGAGCAGGGCCCTGTATCTGTGGTTCCTAGTCCGAGTGTATGCCCTGCATTGAGGATGTAGGACTCCCAGCTAAAACTGCCTTCTGCCCACGCTCCCAGAGCCTGAATAAAGGTCCTTAGGCCGGGCTTTTTGCCTCTTCCCCCAACCTATCAGTCCTCCCTGATCCCCTCCCAAACTGCTTCCCATACCCTTGTCCCCATCCCTTCTCACACCTTTTTCAAAGACATACAGCGTGACCTGAGAGGTCTTGCCCACTATGTCTGGAGGGTTTTTGACGTCACAAGTGAACGTGCCATTGTCACTGTAGTCTAGGTTGTGTATGACAATGGAGCCATCCTTCCAGCGAGGGTCCCCTACCCACTGGATGCGCTCTTTGAAGGTCCCCACCTCGTCAATGTAGGGTTGTCCCTTGGCATAGTGGAAGATCTATGAGGAATGAGGGGAAGCATGTGAGAGGACCCTAATGAGAACACAGCTGTCAAAGCTTAGCTCCATAATTTGTTACAGAAAGAAAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCTTCGCTCCAGCCTCAGGGTAAGGGATCTTGGGCTGGAAAGGGTAGTGCTGGAGAAGGGAGGACAATGTAGTCAGGGTGACAAAGACTGTCATTTACCTTGCCAAAGTTGGGGTTATGGCTCAAAAAGGATTTCCCCCTCCTTAGCCCAAGTTATCTTTTTTGTTGTTCTTTGAAGCACTTTCTGTTATCCAACCCCAGGATTCCCCCAGGCACTCACCGAAATGGCATCTCTGCCCCCTTCGGGCTGGTAGCGCCAGGTGAAGGAGATGTCATCTGAGACCCACTCACTGGACCAGAAGGAGCAGTGCAGGGTCACCCGGGAGCCCACAGCACCATGGACCTCCCTGTCGGTGTAAACCACGATGGCCTGGGCCGGGGACAGCACTGCAAGCACAAAGTGGGGAATCAGATGCACCTATGGGCCCAGTAAGGGATACAGAGGAAGTGAGATCAGTAGGAAATCAAGTGCTGAGTCACAGGTCAGAGGCCAATTTGGAAAAGAAACAACAAATTCTGAGCCCCAAGTCTCTGGGGACTAACTGAACAGATGAGCATAAATGCTGTGTCTGTCAAGCTCTTTAGCATGTCTGTAGAGAAGATGAAATCAGCAGTAACAGAATTCTCTTGAGGACTTCCAGAGATTGGGTTCTGTCTTTAAGTCTCACTTCTCCTTTGGGTCAGTATCTAACTTTTAAGCTATCCTTTAGATGCAGTGTTCTAAATTTTTAAAATTTATTATAAATTATACAGGTAATACATATTGTACTCTTCTTATAAACTATTCAAGCAATAGAAATAAAACAAAAGTCTCCTTTGACACTTAGCCCAACAAATTCCTTTCCTGTATTCCCTTCCAAGATGTAACAAGTTATCCATTTAATATGAATCAAACTCAGTATAAACTCAATAAACTCAAGATATACACATACTTACAACAAATAGTTTTGTGGAGTTTTTTTTTCCACATACATATTGCATTGTATTCTAGTGTCTTTTTGCTTAAGAACTTACGTATCTGGAGGAGCTTTCCCTGTTGATTCATAGATATCAATCTTATTTTAACAGCTGCATTGGATTTCACAATACAGCAAACTCAGATTTCTTGCAGAAAAAAATGAAGATAACTAGAAAATATAAGTCTTCTTCCCTGGCACAACTGTCCTCATTGCTGAATCCCTGGTTGCCATACAGCTTGCTCTTGACTGGAGAGTCAGGAAGGGAAGGGCCTCATACCCCTCTCAGCTGGGTGCAGAGCAACACCCCAAGCCTACAGCTCAGATGACCCTACATGTGAGCCCTCTATGGTTCAACTGTCCTCACCTTCCTCTTGGCCACTGTGGCCCAGTGCCATCCCCAAGACTTACCCACACAAGGAAGGTCATTCCAGAGAGACTATGTGTGTGGGCTGGCCCCAGGGAGGG
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Subsets and Splits
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