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_15800
|
Consider this mutation in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Is this a benign change or a disease-causing variant?
|
Pathogenic; Cerebellar vermis hypoplasia
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15801
|
The following genetic variant occurs in PSMC3 (proteasome 26S subunit, ATPase 3) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; High anterior hairline
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
|
Task1_train_15802
|
With a mutation on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Abnormality of the pulmonary veins
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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Task1_train_15803
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Consider a variant on Chromosome 11 in gene PSMC3 (proteasome 26S subunit, ATPase 3). Determine its clinical classification and disease relevance.
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Pathogenic; Global developmental delay
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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Task1_train_15804
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A mutation in PSMC3 (proteasome 26S subunit, ATPase 3), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Patent ductus arteriosus
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCGGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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GTGGTATGGGGCCCACGGCTGTCTCCGGGTTTCCAGGCGTCAGCACCTGGGGAAGGTGCCTCCCACACACGCCCCCACTCCTCCAGCCAGAGCCCAGGGAAGGCAGACAAGCAGCGGCAGGGACCCTAAACCATCTTTTATTGCGCACTTCAGCCGTGAGACTGGGGCTGGCCTGTGTGCCCTAGGCGTAGTATTGTAGGTTGGCTTTCTTCTTGGCCTGCACCTCCAGGATGCCTTCCATGTAGTCCTCGTGGGTGAGCTCCGTGGCACCCCTGCGCAGTGCGATCATGCCCTACAGCCGGGACAAACAGAGTCTAGGTCTGAACGCCTGAATGCCTTCCCTGGCTCCCTGAGGCTCAGGCCTCTTCCCTCAGCCGTCTCCACCAGCCAAATGCCCCCATCCTGTCCAGGGAGGGGGCAAGAAGGCACAAAGCAACGCACCCACCCCAGCTGACCACTCACCGCCTCCACACACACAGCCTTGCACTGGGCCCCATTGAAGTCATCTGTGCAGCGGGCCAGCTCCTCGTAGTTCACGTCAGGACTGGGGACAGGACAGATACCACAGGCTCAGTGGCTTATGCGGAATGGGCAGAGGGGCCAAATATCCTCCCCTGGCCCCGTCAAGCAACAAAGTCAAGTTGCCCTGTGATCAGAGGCAAGTCCCTTACTCAATGCGCCTTGTTTTCTTCTCAGTACAAGATGTGGGGGATGAAGGGAGGAAGTTAATGCAGGTTATAACAGGTTATTTCTAGGGTCTCTTGAGCTCTGGCCTTCTAGAAATCTGCATCTGGGACTCCAGGGACTGACTGTCCTCATCCTGTGCCCAGCACTGCGCTTGACACTGTCACATCTAATCCTTACCACGACCCTGTGAAATCAGTGCTATCATCCCCAAGTCCCAAATAAGAAAAGTGAGGCTGAGGCCGGGCGTGGTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACAAGGTCAGGAAATCAAGACCATTCTGGCTAACAAGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCCAAAAATTAAAAAAAAAAAAAAAAGTAAGGCTGAGAGAGGGCATGCCACCTGCTGAGAGTCATACATATCTGAACTCAAGTCCATCTGGTCCCGGCCATTCCTGGCGTGTGTTAATGGGCTGAGGTGTGAGGCCAGGAAACTAAGTGCCTCCAGCCTCTGTGCCTTCAGATGAGGGGTGGAGTCTAAGGAGCAGAGCACCCAGAATTACGACATGGGCCCTGGCAAGACGCTACATCACACAACTGAGGAGAAACGGAGGCTGGCGTGTGGAACGGTGCTGTGTGTGCCTGGGGCCTGGGAGGTGGTGGTCGTGGAGGCTGGGGAAGATCAGTACAGAGAAGCATGGCAGAGACATCCTCCTGCGCCTGTTCAGGTCTCTGTGCCCTGCCCGTGCTCCTGCTCACCTGACATTCATCTTTCGGGAGTGGATCTGCATGATTCTGGCCCGGGCCTCCTCATTGGGCATCGGGAACTCTATCTTGCGGTCAAGGCGGCCCGAGCGGAGGAGGGCGGGGTCCAGGATGTCCACCCTGTTTGTGGCTGCAATTACCTGAGGAAGAGAAGCCACAACTTGAAAGGAGCAAGGTGTTCACAGATGGGCAGACACGGTCAAAAAAGGCAGAGAGGCAGCCCCCAGAGTGCAGGTGAGACACATGGGATGTTAAAGACAGATCCCAATTCTCATTCCAGCTCCACCACTGGCTAGCTGGGGGCCTGACAGCTCCTGACCTCTGAGCCTCATCATCTTTGCCTGGGAGTGCTAATACTCACCTTAACTTGGGTGTTGGGCTGGAAGCCATCCAGCTGGTTCAGAAGCTCCAGCATTGTCCTCTGCACCTCCCAGTCCCCAGCCTTCTCACTGTCAAAGCTAGGGCACAGGAAGCCCGAGATGCTGGTGAGGGCACAGCTTAGGCAGAGCCCTCCCCTCCTCTACCCCCTGGAAGCCTAACCTAACCCGTCCAGGGCAGGGAAATGGCTCACTCAACTTGGGGCCCCCAGCCCAGGGACTGGCACATAAAAAGTGTCATTAATTGTTGACCACATTCAGAGACTGAAGAGACTCCTAGAATCAGGTGCTGGGCTGAGGATAAAACAGTGAGCAAGGCTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCCTATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACCAGGTGAGATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCAGCCACCTGTAATCTCAGCTACTCGGGACACTGAGGCAGAATTACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCAAAACCAACCACTGCTTGGGCTGTTAACTGTGATGAATGTACACTTGCAAACTGAGCTAACGCTTAAAAACACAGGTATCTGGCCCAGCCTTGGACGGTGCTGTACAGGAGAGCCCAGGCAGGCATCCCCCGGGAAGTATCCCTGAGGCTGAGATCTGAAGGTTGAAAGCACACCAGCTAGGCAACCAACCAGTGGAGAACAGGGTAAGAGCCACGGCGGGCCTGAAACGCAGGAAGCACCGTGGCAGGAGTCCAGAGCAGGGGAGGCTGGGGACAGGCATGAGATGAGGGTGAAGGCGCAAAAAGGCAGCACACGTTGAGCCTTGTAATTCCAGCATTTATCCCAGGGAGCAACAGGGAGGCCCAGGAAAGTTTGATTTTTTTTTTTTTTTTGAAACAGAGGCTCACTCTGTCATCCAGGCCGGAGCACAGTGGCACAATCTCAGCCCACTGCAACCTCCGCCTCCCAAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGAATTACAGGCGCACACCACCACACCCGGCTAATTTTTCTATTTTTAGTAGAGATGTGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTTCCAAAGTGTAGGGAATACAGGAGTGAGCCACTGCACCCAGCCAGGGTTTTTAACAGGATTGGTTTATGTCAGGGACCACTGTGGGTTCATGTGAGCGAGGTGGCCAGATTCCTGCTTTGGCTTTTTTTGTTTTGTTTTCTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTTCACCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTCCAATCTCTGCCTCCCAGGTTCAAGTGATTCTTGTGCCTCAGCCTCCCAGGCATCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCCAGATTCCTGTTTTGAAAGGAACATGCTGGCAGCTGTGGGAATGAATGGCTGGGGAAACAGGGAGGCTATTGATCAGGAGTTAGGAATTGGAATCTCAAGAGTTGAGGAGCCACCATCCAGGGGCAGGAGGGGATACAGGGTGGGAAGGAACCACAATTTAGCACAACTGAGAGTCAACCCGCTTCCCCTTACCGCCACAGAGATCGCTAGGGACCCTTGGCCCTCCCTTACCGCTTGGTGCCGATGGCATCCAACTCATCAATGAAGATGATAGAGGGCGCTTTCTCCTTGGCCAGGGCAAAGGCATCCCGGACTAGCTTGGCACCATCTCCAATGAACATCTGCACCAGCTGGGGGCCAGCCAGCTTTAGGAAGGTGGCCTGGCAGGAAAAGGTGGTAGAGTCAGG
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Task1_train_15805
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This mutation occurs in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not specified
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GAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCGCCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGGAAAGAAAAAAGAAAACTAACCCACCTTCTCGTGACGTCATTTCCCTTCAGCTAAAGCCCCATTTCACTGTTCTTTTTCAAGGTAAATCTATTTGATCTTTCACTTAATATTTAACAAGCAGCTCCAAGTTAACATGACCAAAAGAGAAGTGTCAATAACCCCCCCAAAAAACCCTTTTCCTAATATGCCTTATTACATACTTTTGAAGCCACATAAATGTTTTACAGATTAAAAAATTAAATTTAATTTGAAAAATACCTAAAAATAGAAAATGGAGGTCAGGTGCAATGGCTCATGTCTGTAATCCCAGCACTCGGGGAAGCTGAGTTGGGAGAACAGCTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACATTGCAAGACCACTGTCTCTACAAAAAATTTAAAAATTAGCCAGATGTGGAAGAATGTGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGAGGGAGGATCGCTTGAACACAGGAGTTTTAGGTTACAGTGAACCGTGATTGAGCCACTGCACTCCATCCTGGGTGACAGAGCAAGATCCTGTCTCAAAAAAAAACAAAAACAAAAACAAAAACAAAAACCTAAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCATGAAGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCCACTAAAATACAAAAAAACTAGCTAGGTGTGGTGACAAGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC
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GAGCAAAACTCAATCTCAAAAATGTTTTTTTCTTTTCTTTTCTTTTCTTTTTTAGAGCATGGGTCTCATTATGTAGCCCAGGCTGCTCTCGAACTTCTGGGCTCAAGTGATCCTCCTACCTCGGCCTCCCAAAATTCTAGGATTATAGATGTGAGCCACCATGTCCAGCCCACTGTTAGGGGTTTTAATCAACATCAGGAAGCTTCTGAGGAATTCTGCTATCCTCCAAGCTATGAAACTTCTGCCCTGCCCTCAGAAGTGCTGTGTGTGTGGCAGAGAAAGAGCCAGAGTATGGGGTTGGCTGCAGGCAGCTCCCAGCATCAGGAAGGGCTCATGACGTGAGTAGGCTCAGGAAGGCCCTTCCCCAGACCCAAGTTCCCCACTTGGGCCCTTGACCCCAGATCCAGGACACAGAATCAAGTCTGACCTTGTTCCCCACCTCCTCGGCCAGATCCTGGGCTCTCTCGATGGCATCCAGAGCCTGGAAGGTGAGCATAGGCCAGGGCTGCGGGCAGAGCTGTCTGACAGGCCTTGCTCACAGGGAAGCACAGGGTAGGGGGGCAGGCCTAGGGAGGGTGACATGGCAGCTGCCTTGTGTGTGAAGGCAGCAGGAAGAGACTAGGGCACAGTCATAGGGGCTGTGTGGGCAAGTGACCTCCTGCCTCAGTTTACCCAGGGTTCCAGCCCTTTACTAGCTGTGGGTCCTAGGGCAAGTGATGGGCCTTCTCTGAGCCTGGAAAATGACCAGGAATGTCCTGGCCTCGTAGGATCAGGGTGAGGCTGACGTCAGACAAAGTGGCTGAAAGAGCCGGCTAACCTACTGGCCCCAAGTGGGGAGTGCTGGGAGGGCTGGAGGCTGTGGGAAAGGCCCGACCTCACCTTGTCCAGCGCCTTCCTGGCCACCCAGCACTTGGCCACACCCAGCAGCGCCTGCACCTGCCCCAGGCGGTTTCCGATCTCGGTCATGATGCTCATGGCGGAGTCGTACCTGGGGAAGGCTGTCTGCAGAGCCAGGTGGGGGATGGAATCAGGCTGTATCAGGCCTGTGCCCCTGCCCCCTGCCCCCAGCCCCTGCATCCCGGTGACCTCACCTCCAGGTCCCCACGGCTCCGGTGGATGTCAGCGAAGCAGAGCAGGCAGAGCGCCTGCAGTGGCCGGTCCCCGTGCTGCAGCGCGATCTTCATAGACTCCTGCGAGGGAGGCCAGTGGCTCAGGCCTACTCCTCTGCCACCACCACTGGAGTGCCCTCCCCTCAACAGACCCCTCTGAAGGGACAGCCCAGGGAAGCAACATCCTCAGAGCCTAGTGAATCTATCATGGTGCTGAGGGCTCACACACTGAACCACTGAAGTCACAGCACCCAGCAAGGTGGGTGGAAAGTGAGGCTCAAAGAGAAGTGACTTGATTGGGGTCACCCAGTAAGTGACAAAGCTGGGATGTGAACCCAGGTCAGTGGGACTCCAGAAACTGGCCCTCTTCCGTCTCTACCCTTCAAAGTACCCCATATAGGGTGTTGGGGCAGAAGGAAGCCCCCTCCCCTGCAGATGGATTGGAAGGGAGTGGGTTTGGGATGAGGCTGGGGGACAAATGTTTCCTTCAGGGGTTCAGCTGTAGAGAACTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAAGTGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACACGAGGATCGCTTCAGCACAGGAGGGTGGTTTAGTGAGACCCCGTCTCTACAAAAATAAAATTAGCTGTGCATGGTGGTGCACGCCTTTAGAGAGGCTGGGCCAGAGGCAAGCCCTAGGGGGCTTCCATGGGCTGATTTGGAAGAAGGAAGCCCTGCTGTCCCAGGCCCCAGCCCCTGGCCCACACCACCTCATCCCCGACCTGCCCCCTTCCCCGCTGCCCCACCTCACAACACTCCATGGCACTGCCCAGGCGGCCCAGCAGGCGATAGGCCACGGCCATGTGGTACTGGCTCATGGCCCGGTACTTCAGGCTCCAGCCTTTGCCATAGTTGTTGACAAGCTCTGCCACCTTGCAGGGGAAGAACAGGGCTTTCTCGTAGTCCTGCAGGGGACATGGAATGGAAGGAGGCAAACTGAGTGGCAGAGGCTGCCCCAAGTCAAGGGCTCCTGGGCTAGGTTTCTCTAACAGCAGGTAGGGGCAGGGGGCCCGAGTGTCTGCTCATTCATTGTGACATCCAGGACAAGAGTGGCCCGGTAGAGGGAACAGCCAGTGCAAAGGTGTCGCTCTGTGGACTCAGGGATTCTCATCTGGTTTGTGACGCATCCCAAGAGCCTAGCACAGTTCTTGGCACTTGGTAGATGCACAATAAATATTTGTTGAGTGAATGAATGAAAAGACAAGAAAACACAGTTGGCTTCTCTTTTCTCCCAATGCCAAATGGGCTCCTCAGCTTCAGAGATGCACAGGGATGGGAGATACCAGATCCCTCCACTAGAGCTTGCCTGCTGGCACCCGGAAGCAGGTGTTCACTGAAGCTCAGTGGCAGACTGGCAGCACAACAGGCTCAAAAGAACATCAGACAGACTCAGCGAGGCGATGCAACCATTGGCTTGTACTTTTTCCTCAAGCTTCCAAATGCATTTTCTACCTGCTCATGGTCAGCTGATGACCTCGCCTCAACTCCACGAGGAAAAGGAAGAAAATCAGGGAGAAGCTCCTTCCCCTCCTGTCTCCACCAGATCTCCCATCTCCGCACCTCTGCTCCCACGCTCCCTGCCTCCTTTCCTGTCACTGTGGAGGATGGCTCCTGTTCCCATCAAATGCCAGCCTCCGATGAGCAGTCTCTGCATCGTCAGGTCCTCTCTTTCTACAGAATCTTTCCCATCCACGTGCAAACATGTCTGGCATTTCTCATCTCATTTAAAAAATAAAAACTGGGCCAGGCACAGTGGTTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGACAGGAGGAACGCTTGAGCATAGGAGTTGGAGAATGGCCTGGGCAACTTAGTGAGACCCTGTCTCTACAAAAATAAAATCAGCTGTGCATAGTGGTGCACGCCTGTAGTTCCAAGCTACTCAAGAGGCTGAGGTGGGAGAATCACTTGAGCACAGGAGGTCGAGGATATGGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGGCAGACTCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAGGAAAGAAAAAAGAAAACTAACCCACCTTCTCGTGACGTCATTTCCCTTCAGCTAAAGCCCCATTTCACTGTTCTTTTTCAAGGTAAATCTATTTGATCTTTCACTTAATATTTAACAAGCAGCTCCAAGTTAACATGACCAAAAGAGAAGTGTCAATAACCCCCCCAAAAAACCCTTTTCCTAATATGCCTTATTACATACTTTTGAAGCCACATAAATGTTTTACAGATTAAAAAATTAAATTTAATTTGAAAAATACCTAAAAATAGAAAATGGAGGTCAGGTGCAATGGCTCATGTCTGTAATCCCAGCACTCGGGGAAGCTGAGTTGGGAGAACAGCTTGAGGCCAGGAGTTCAAGATCAGCCTGGGCAACATTGCAAGACCACTGTCTCTACAAAAAATTTAAAAATTAGCCAGATGTGGAAGAATGTGCCTGTAGTCCCAGCTACTCAGGAAGCTGAGGAGGGAGGATCGCTTGAACACAGGAGTTTTAGGTTACAGTGAACCGTGATTGAGCCACTGCACTCCATCCTGGGTGACAGAGCAAGATCCTGTCTCAAAAAAAAACAAAAACAAAAACAAAAACAAAAACCTAAGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGCAGATCATGAAGTCAGGAGATCGAGACCATCCTGGCTAATATGGTGAAACCCCATCTCCACTAAAATACAAAAAAACTAGCTAGGTGTGGTGACAAGTGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC
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Task1_train_15806
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This gene mutation involves RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Congenital myasthenic syndrome
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCCGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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Task1_train_15807
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This variant affects gene RAPSN (receptor associated protein of the synapse) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fetal akinesia deformation sequence 1
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCCGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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Task1_train_15808
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The variant affects gene RAPSN (receptor associated protein of the synapse), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Congenital myasthenic syndrome 11
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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GCTCCTGAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCCGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCC
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Task1_train_15809
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This is a variant in RAPSN (receptor associated protein of the synapse), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; Fetal akinesia deformation sequence 2
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTTGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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Task1_train_15810
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A genetic alteration is present in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Fetal akinesia deformation sequence 2
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTTGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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Task1_train_15811
|
With a mutation on Chromosome 11 in gene RAPSN (receptor associated protein of the synapse), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Congenital myasthenic syndrome 11
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTTGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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Task1_train_15812
|
Given this variant in gene RAPSN (receptor associated protein of the synapse) on Chromosome 11, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Congenital myasthenic syndrome 11
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTTGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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Task1_train_15813
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A mutation in RAPSN (receptor associated protein of the synapse), located on Chromosome 11, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Fetal akinesia deformation sequence 1
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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GAAACATTAGATTTGAATTGGAAATGTCAGTATAAACTTCCATTATTCTGATAACTGAAAAGATTTAGAAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTTGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCT
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Task1_train_15814
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A variant affecting Chromosome 11, within the gene RAPSN (receptor associated protein of the synapse), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Fetal akinesia deformation sequence 2
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AAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTG
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AAGCACGGACATCCCACTAGCAATGAACACCCCACAAGCCCACACTTGGGCTTTTTTTTTTTTTCTCTCACACAGGGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGAACACTCATGGCTCACTGCAGCCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCTGAGTAGCTGAAACAATAGGTGTGAGCCACCATGTCTGGTTCATTTTTAAAGTTTGGTGCAGATGGGGTCTTGCTATGCGACTCAAGCTGCTCTCAAACTCCTGGGCTCAAGCAATCCTTCTGCTTGGCCTCTCAAAGTGCTCAGATTATAGGCATGAGCCTTGCCAAATTAAAAAAAAAAAAAAACTGTTTGTAGACGCTGGTCTGGAACTCCTGGTCTTGAGCGATCCTCACCCCTCAGCTTCTCAAAGTGCTGGGATTACAAGTGTGAGCCACCAGGCCTAGCTTACTTTTCTTCAGAATTAAAAAGGTTTTTAAAAACCCCTGTCCTGCCCCAGTCCTATCTCATCTCACTGAATGGCTCCCCCTTACATCTGCTTCCTAAAAACAAAGTCCTGGCTGTCATCCTTGGTGACTCGTTTCCTCCCATCCCACCTTGGATCCATCAGCATTTATCCACTCACTAACTCCAAGATTTATTAAGCATCTACTGGGGCCAGGCATTAAATCCCCCATGGACCAAGCACAGCACAGATACCTGAGGGGAAAGGGAACAAAAATACCCAGGGTTGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCGGATCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATTTCTACTAAAAACACAAAAATTAGCCGGGCGTGGTGGTATACGCCTGTAGTCCCAGCTACTTGGGAGGCTGGGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCACTCCAGCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGGAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTG
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Task1_train_15815
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An alteration has been detected in RAPSN (receptor associated protein of the synapse) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Congenital myasthenic syndrome 11
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGGGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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Task1_train_15816
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Given this context: Chromosome 11, gene RAPSN (receptor associated protein of the synapse) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Fetal akinesia deformation sequence 1
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGGGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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Task1_train_15817
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The gene RAPSN (receptor associated protein of the synapse), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Fetal akinesia deformation sequence 2
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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GCCTGGGTGACAAGAGCAAAACTCCGCCCCTGCCCCCGCCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGGGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATAC
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Task1_train_15818
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The gene RAPSN (receptor associated protein of the synapse) is located on Chromosome 11, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Congenital myasthenic syndrome 11
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CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCA
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CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCAATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCA
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Task1_train_15819
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This variant lies on Chromosome 11 and affects the gene RAPSN (receptor associated protein of the synapse). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Fetal akinesia deformation sequence 1
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CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCA
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CCAAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCAATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCA
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Task1_train_15820
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Assess the clinical impact of this variant on gene RAPSN (receptor associated protein of the synapse), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Fetal akinesia deformation sequence 1
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AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCAGG
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AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCACCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCAGG
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Task1_train_15821
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Mutation context: Chromosome 11, Gene RAPSN (receptor associated protein of the synapse). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Congenital myasthenic syndrome 11
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AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCATCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCAGG
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AAAAAATACCCAGGATCAGAACCTGCTGTGGCTGATCCTATCAGTTCCTTCACAGTTGGCCCTCCTCCTCTCACCTCCCTACCTCCGCACACACCTGAGACACGCCTGGCAGCCATGCTGGCCTCTGTCCTTCCTGGAACATTCCAGGAAACATTCCAGGATGCTCCCCCAGGGTCCAGCTTGGCTTTAGGGGCTCGCCCATTTTTGCCTAGAATGCTCTCTCACCAGATTTTTGCATGGCACACCCTCTCTTCTTCAAGCCATCAAACATCACCTCTGCGAGGCCCTCCGACCACTATATTTGAAATTATGACACCCCCACGCCCAGTGCTGCCAGCCCTTTGCCCCGCTTCGCTTTCTCCTAACCACTTGACTTCCTGACTGTGTTGATCGTCTTTCTTCTCCAACTAGAATGCAACCCTCGTGAGGACGGGGACTTGGCTGTTTTTCTCACTGCTACACCCTGGGTCAACAGTCTTGGGATACAGTAGCTGGTCAATAAATATTTGATGACTGACTCCATACAACCCCACTGTAAGGTGAGTCCTATTCTCCTTCATTTTACAGATCTCTCCCAAGGTTCAGAGAGGATAGGTGACTTGCCCAAGACCACACAGCAAACATGGCAGTGCAGGCCGCTGGCCTGTCCTCACAGAGGAGCCTCCCATTATTCCTCCAGGAAGTCACACAGATCAAGGTTTGAATCCTGGCTCTGCCCTTGCTGGCTTCCTGGCCAAGTTGTTACCTTCCTGGATAAGCCTTTTTGCTCTCTGATTCTCACTCTCCTCAGCCCTCCCTAAAAGGAGGGCTGAATGAGGTAGTGCCACAGGGTGTGTGCCTCATGAGAGGGGAGCCCCAAAACCCTCCACTGCTGTCCCCCTGGGGTGCAGGCCCACCTTGACCTGGGCATAGAAGCTGCCCAGGCTGCAGCACACGCGGCACTCGAGCATGGCGTCATCATTGTTGTGGGCATAGCGCAGGGCCTTCTCGAAGCTCTCCAGGGCCTTCTGGAAGACGCTGAGGCCCAGGAAGGCATTGCCCATGCTCAGGCTGACCTGGCCTCCGAGCTGGGCACCTGCCCTGGTACCAGGCAGCCCAAGGCAGGTCTTGCAGTAGGAGATGGTCTTGTGAAACTCGCACAGCTTCTCGTTGCTGCGTGCCAGGTTCAGGTAGCTCTCCAGGAGGAAGTCGGCATCCTCCAGCTCCCGGGCCGTGTCGATCTGGACCACAGCGAACTGCACACAGCGACGGTGGGCAGGTGGTGCTCAGCCTGGACTCTGAGCCTTGGACCCCAGCCTGCACTGCAGGCTCAGACCTGGAGGCCCCACACCCACCCCCCAGCCTCACACCCAAAGCAGCAGATCCCAAAGCTTCTTTTCAGACCCAGAGCTTCTACCCGCCAGCCTCAGCTACCTTCCCTACACCCCAGCCTCACCTCCCAAGCTCAGGCTTGCAGCCTTCACCTTCTATCCCAAGCCTCAGATCTGGAGTCTCCACCACCCACCCACCCCCAGCCGCAACCCTGGAGCCCACACCCCGCCAGGCTCAGACACAGAACACCAGACAGGAAGGCTGAAACCTACAATGGGCTTGAGACCCACAAACCCTCGACCCTGAGGCTGGAGAACCTCAGTCTCAGAGACTCGGGCACCACAGTTCAAGGCCACAGGCCTGAATCTGATGCCAAGACTCAGTATCTAAGACCCAGGGCCTTAGATATAAATTCAGAGCCTCGGGCCCTGGCTGCCAGCCTGTGGGACACAGGGGAGCCCGAGGAGGCCGAGAGGGGACTGGGGAGCCTGGGAGACATCCGGCCCCAGCCTGACCCTCGAACGCCCCCAGGCCGGGTACACCCACCTTCAGCATCTCCTTGTAGCGGCCCATCTCCGAGTGGGCTGTGACCAGGCAGCCCAGCACGCGGAAGCGCCCCATGAGGTCCGAGCTCTTCTCCAGCACCTTTGTCCACACCTGCAATGCCTTCTCTGTCTGGTTGGACTGGTACAGCTGGAGCCCCTTCTCGATCTGCTGCTTGGTCTGGTCCTGCCCCACCCTCCCCAAGCCCTGTGTCCCACGTGGGGTGATCCCTGGTGGCTCCGTGCCTCTAGGCACTCATGGGGCAGGAATCACAGTGCCAGCTGCCCCCCGAAACGTGGGAACAAAAGCAGCGTCGGGTGGGAGCCGGAATGGGGCCTGGATGGAGAGCAGGCGCCACCCTGGGAACAAAGCTGGTTCAGCCCGTCTGCAGCTGTCGCTGCCAGTTGGGGCCACATGGCCTCTGAGGAATGTCAGCAGCAAGGTCACGTGGGCCTCTGCTGCACCCACCCGCGAGCTGGGACGTGGCTTCCCTGAGCATACAGGCACCTTGCCACCTGGGCACCCCCTTGGGCGTCCCTTAGGCACCTCTGACACTGACCCTGACCGCCCTGGCAGCACGGGCCCTCCCAGCAGCCTTGCCAAGGGGCCAGCTCCAGCAAGTGGGCAGGCCTTGGGCTAGAGGTGCTCGGGGGAAGGAGAGCGAGGCTGGACCTGCAGGTCCGGGGAAGCCAGGTGAGCGCCCAGCCCTGCTTCTTCCCCATCAAGACACCCCTGACCGCAGCATCCCCTGGCTCTGTTCCTGAAATTCACTGAGCACCGTGGGTCACTCATCCAGGCCCAGGCTGACACCATTCACCAACTCTCACCTTAGAGAGTCTGGGAAAGACCTCCAGCTGGTGAGAGGCCTGAGCTCTAGCCTGGCTTCCTTCGAACTCTCAGTGGGACCCTAGCCAAGTGACCTGGCACCGTGGACTGAAGAGAGGAATGGTACCTGGCTCACTGGACTGCTATGAGAACTCAATGACGAAAGAGTTGAGAAGGACTTAGGACAGTGCCCGGCACAGGAAACCCCGCATGTGCTGCAAGAGGCTATTTTGCTCCATGGCAAATCCCCACCCGGGCCAGAACCCAGCCCTTGAAGTTTCAATGTCTCACTTCCAATCCCAACCCCGGGCTGAAAGGGTCCTCATAATGAGATTTAACACCAGATACTGTGGAGAAGGGCAAGGTCTTATGTAGTATTGGGGCCCCCGCTAGCAGGCCAGCTCATCCAGCCCCCCTTTCTCCTCTCTCTGCATGCCAGCCTTCTTCCTGCCCCAGGGCAAAAGTTTATCCTTTCTGGCTGGGCAATTCAGTGGTTTTTAGTATATTCACAGAGATGCACATTAATTGCCACTAATTCCAGAACATTTTAACCACCCCAAAAAGGAGACGCACACCCATCAGCAGTTACACCACTCCATTCCCCACCTTGATATGACTGAATCATGTCCCCCCGCAACCAAACGCATATGTTTAAGTCCTAACACTCAGTATCTCATAAGGTGACTGTCTTTGGAGACAGGGTCTTTAAAGGGTGATTAAGGTAAAATGAAGTCACATTGTACCTCATCCAGTTAAGACTGGTATCCCCCCCCCCTTTTTTTTGAGACAGGGTCTCACTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAGTCACAGCTCACTGCAACCTCTACCTCCTAGGCTCAAGTGACCCTCCCACCTCAGTCTCCTGGGTAGCTGAGACCACAGCTGTCTAGTTTTTGTAGAGATGGGTTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGGAGGTGGAGGTTTCAGTGAGCCGTGATTGTGCCACTGCACTCCAGCCTGAGCACCAGAGCAAGACCTTGTCTCAAAAAATAAATAAACAATAAATTTTTATTTTTAAAAATTATTTTTGAGACGGAGTTTTGCTCTTGTTGCATAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGAGACTTCTACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGTATGCCACCACGCCTGGCTAAGTTTTTGTATTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTTCTGACCTCAGTTGATCCACCTGCCTCAGAGCCTCCCGAAGTATTGGGGTTATAGGCGTGAGCCACCATGCCTGACCACAATACTTTTTTTTTTTTTTGAGACACTTTCCCTCTGTCACCCAGG
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Task1_train_15822
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This variant affects gene PTPRJ (protein tyrosine phosphatase receptor type J) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Carcinoma of colon
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CCTTTTAAGCTCCCAGGAAATTGATGCTGTGTTTATATTCCCAGGAGTTTCTGTTGGGCAGGAAAGTTTGGTGTATTTTATAGGGGAGTGTGTGTTTCAAATGAAATAAGAGTTTGATGATATTTAAATTTTAATTCAGATTTGACAGTTTAGATTTTGATTTATCTTAGATGTCAATACCGAAGCCATCTATTATAGCTGCAAACTTAGCTTTTTTTTTAAGCTGAAAAGAACCAAACATTTTAAAAAACAGGTGGAGAAACTTTTTTAAGGTGAGGAGAACCAAAAATTGAAGAAAGAGGTCCTCTGTTAGTTTTCTGATCTAGGGGGCTGGGGAGTGTGATCTCAGGGGCTGGAGTCGGCCATGGGCGCCTGAGCTCTTGGAGCCCACGGCTGGAGGTGAACGAGGTCCAGCGTGGAGCAGCAAATATGAAACCAGTGGCTTCCGACATTTTAAGTCAGGAAACTATTTCTTTAAACAAAACCTTGCCCAGGAGCCCAAAAAGTAAAAATAAAAAACTGGAGAGAAAAGAGCCAAAGAAATGGGAGTCACGGGCACCCTGACAAAACTCCTGGAGCTCCTCAGAGCACTATTTTAGGGGGGAAAACCTGCCATAAAGGTTTGCTCTGTTACATTGTGAAAGAGAGGGAAAGGAGAGCACAGAGAGATGACAGAAGAGAAGAGAATGAGAGAAAAGAGCATAGAACTTGGAAATGGTCATGAGGACAAGGTGACCCCGAGGGGGTGGCTGTGGGAAAGGGGATGCGGAGGTGCAGGAAGCACCGGTAGAGGGGCTGAGTGTCCTTATCTAGCTTAAAGCCCTGAGCACAGGGCTGCATGGGAGCAGGTCCATCAGCTGCTGCGTATTGAGCACGGCACATGTGCCTCTCTGTCCTTAATGTTATTTTGTCCTCACAGTAACCCTGGGGGCTGCAGCAGAAGACACTGTAATGTGGAGAAGTTAAGTTTCTTCCGGTGTCTCAGAGTTACTGAGTATCAAGTGGTGGGGCTGGAACCCGGAGTCTAACTCTAGACCACTGTGGTGCAGTGATGTTCATAACAGCTATCCACAGTCACCGAGCTGGGAATTTATTGGTTCTGCATTACTTAATAAAACAAAAAGACGCATGACTGACCTGATTTAGAACTCTTTGCATGAGAGACATGTGCTGTGAAGAATCATCTTACCGTTTCGGAGCTGGACGGTGCCTTAGAATCATCTAGGCCGATGTCTTTACCTTCAGGCCCCTGCAGCCCTCAGGAGGGGTTTTGCTCTATCTGCAGCACTACCTGTGCTTTTCTGTACATGAAGCTGCAGCCCTGGGTTCTCCTGTCCCCACTGCTACCAGGAGTGTGTGTTCTTGAGCAAGCCCCCCTGCCTCTCTGGGTCTTCGTGTTCTTATTGGAAAAGTGAGGGGAGTGCATGTCATTTTGGGTGAAGTGGTTTGACTTATGTCACCATCAACCAAATAACGCGATGGGAGGAAGGTCCAGGATATAGTGGAGATGGAACGTCTTCTGAAAAATCCCCTTGGTGCTGGGATATTGAATGTGCTGCTTACTTGAAATGTCTTGGTAATTTAAAATGATATTATTTGCATTATCTTGAATTGAGACCTTTAGATTAGTAAACAGTCACTTTATTTGAGGCTTTGTTCCTGATATCTAAAACACATACAATTAAATGCTACCATTTAAAAGGGACAGTTTAGAAGAGTGTCCAGTCACTATTGGGGTTAATCTTGGAGAACAGTGTGGATCCTAAACAATTTCAGTTTTAAGGTTTTTTTCTTCTCTTCCGTGTTATTATTTTCTCCCCCAGCCCTGCTGTGAAATGATGGAAATGCATTGGGCTCTGATAGAAAGGAAGTATTTTTAGTGAGTCACATTGGGACATCAGTGACCTCAGTCATTCTTTCTTTTTTTCTTTTAAAACCCGCTCCCAGCACTGAACCCCAGTCATTCTTAATGAAGGTGACTGCATATATCTTGTTCCATTAATGCATGTTGTATTTTTAAAATAGAGCCGATCCCAGTTTCTGATCTCCGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACAATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGGTGAGTTACAAAGGGTACCTTCCGTCTCCCTTACTGGTTCTTACTTTCAGTAACTAAATGTTCTAAAAAATAAATTGCTCTTCCATGTGTATGGAGATTTAGAATTTATAAAGGGCTTTTCCTCCACATTTTAGTTTGATCCCCCACCTGCATGAGGAAGGAAGGAAACGTGTTCTGATTTTACAGGGGAACACATTGGGGCTGAGAACAGCAATAGGAATTGAAACTTTTTAGAGTCTGGCACCCAGGAAAGTTAGAGGCCCCTTTAGCTTTCTATCTAACAGCTGTGTCAACCCAAGTTGGGCCTTCAGAGGAACTTATCACGTCTGCTGGTTGATGTTGGCGTTGTCATTTGCAGGTTTCATAGCATTTGCAGAGGATCCCCAGGATAACTCCATGAGGAGGACAGGCACTTAATCTGCATTTTATACTTAAGAAAACAGAGCTACAGAGTGGGTGTCAGGATCCTTGCTTGCGAGTGACAGAAACCAGACTTTGGATAGCTCAGACAGAAGGAACAATTTATTGGCTCATGTGGATTTTCCTGCTAGCGGGAGGCCTTAGAGAAAGAGATGAGGCAATTCTCATCCCTCCCTCTTGCTTCTTTCTGTTCATCAGCTTCATTCTCAGAGCAGCTCCCTCTGCACACTTAAGGAGCCCAGCTGCTCCTGTTTCACACCCTGCAGCTGCCCCACCAGCCAGCTGCCCCACCAACCAGGGTCTGGTCCAGGGAAACGTGTCTTGAGTGGGGTCTGATTAGCAAAGTCTGCTTCACAGAGCTGTCCCTGGAAATCCATGCTGGGACAGGAGAAGATAACAACCCAAAGAAGGGAGAATGACCTGAAATAAGCAGAGTTTGAAAGAGAAGCACCAGATATCTGTGGTGCTACTGGAATAACAGTACAAATGGAGATGGAGCTATCAGGCCTTTTTATGGGGCTGCCTCTCTCTCTGGAGGAGGAAGGGAGCAGATATTGATGGAGCACCAACTGTGGCCACTGTCTGATGGCCATCTGATGGGGTTGGGGCTCCGAAGGAAAATGGGGGATGTGTCCCTCTTGTGGTTGATGTCTTTTTGTCTCCTGTGCTTGAAACAGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCGAGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAGTAGGTTGAACTTTGTAAAATGGTGGCAGCCAGAGTTTCCTAGCACAATGTTCTGTCTCCTGTGATTCTGATTCTGAGTGATTTCTTGCATAACAGCTAGTTTTGATGTCAGAGGGAGCTTCCTGGAGGAGATTTTGGACAGAGCAGATCTGCTCAGTTTCTTCTTAACTCCATGGGCAGTGCACATCTCTCATTAAGTGAAATCAAATACATGGAGCAGCCCCTGTGTGCGGGCACCAGGCACTGCCTCACGCCATCTTTCACAGCTTTGCGTGGTGGCTGATGAGACAAACTGGCATCATACTTTCCTCTTAAAAACAAATAATCATTGCTTGTTTTTCCTTTGCTTTGAGTTAAGAAAGTTATGAAAGTGAGTTTCATTTTTTCACCCGCCTTGTAATTCATACCGATCTTTCTGTTGAAATGCTTGTTGACATGCACATTGCTGCTTCCTCGCTATAATTTATCAGCACTTTCACTCTGTAAGTTCACCAATA
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CCTTTTAAGCTCCCAGGAAATTGATGCTGTGTTTATATTCCCAGGAGTTTCTGTTGGGCAGGAAAGTTTGGTGTATTTTATAGGGGAGTGTGTGTTTCAAATGAAATAAGAGTTTGATGATATTTAAATTTTAATTCAGATTTGACAGTTTAGATTTTGATTTATCTTAGATGTCAATACCGAAGCCATCTATTATAGCTGCAAACTTAGCTTTTTTTTTAAGCTGAAAAGAACCAAACATTTTAAAAAACAGGTGGAGAAACTTTTTTAAGGTGAGGAGAACCAAAAATTGAAGAAAGAGGTCCTCTGTTAGTTTTCTGATCTAGGGGGCTGGGGAGTGTGATCTCAGGGGCTGGAGTCGGCCATGGGCGCCTGAGCTCTTGGAGCCCACGGCTGGAGGTGAACGAGGTCCAGCGTGGAGCAGCAAATATGAAACCAGTGGCTTCCGACATTTTAAGTCAGGAAACTATTTCTTTAAACAAAACCTTGCCCAGGAGCCCAAAAAGTAAAAATAAAAAACTGGAGAGAAAAGAGCCAAAGAAATGGGAGTCACGGGCACCCTGACAAAACTCCTGGAGCTCCTCAGAGCACTATTTTAGGGGGGAAAACCTGCCATAAAGGTTTGCTCTGTTACATTGTGAAAGAGAGGGAAAGGAGAGCACAGAGAGATGACAGAAGAGAAGAGAATGAGAGAAAAGAGCATAGAACTTGGAAATGGTCATGAGGACAAGGTGACCCCGAGGGGGTGGCTGTGGGAAAGGGGATGCGGAGGTGCAGGAAGCACCGGTAGAGGGGCTGAGTGTCCTTATCTAGCTTAAAGCCCTGAGCACAGGGCTGCATGGGAGCAGGTCCATCAGCTGCTGCGTATTGAGCACGGCACATGTGCCTCTCTGTCCTTAATGTTATTTTGTCCTCACAGTAACCCTGGGGGCTGCAGCAGAAGACACTGTAATGTGGAGAAGTTAAGTTTCTTCCGGTGTCTCAGAGTTACTGAGTATCAAGTGGTGGGGCTGGAACCCGGAGTCTAACTCTAGACCACTGTGGTGCAGTGATGTTCATAACAGCTATCCACAGTCACCGAGCTGGGAATTTATTGGTTCTGCATTACTTAATAAAACAAAAAGACGCATGACTGACCTGATTTAGAACTCTTTGCATGAGAGACATGTGCTGTGAAGAATCATCTTACCGTTTCGGAGCTGGACGGTGCCTTAGAATCATCTAGGCCGATGTCTTTACCTTCAGGCCCCTGCAGCCCTCAGGAGGGGTTTTGCTCTATCTGCAGCACTACCTGTGCTTTTCTGTACATGAAGCTGCAGCCCTGGGTTCTCCTGTCCCCACTGCTACCAGGAGTGTGTGTTCTTGAGCAAGCCCCCCTGCCTCTCTGGGTCTTCGTGTTCTTATTGGAAAAGTGAGGGGAGTGCATGTCATTTTGGGTGAAGTGGTTTGACTTATGTCACCATCAACCAAATAACGCGATGGGAGGAAGGTCCAGGATATAGTGGAGATGGAACGTCTTCTGAAAAATCCCCTTGGTGCTGGGATATTGAATGTGCTGCTTACTTGAAATGTCTTGGTAATTTAAAATGATATTATTTGCATTATCTTGAATTGAGACCTTTAGATTAGTAAACAGTCACTTTATTTGAGGCTTTGTTCCTGATATCTAAAACACATACAATTAAATGCTACCATTTAAAAGGGACAGTTTAGAAGAGTGTCCAGTCACTATTGGGGTTAATCTTGGAGAACAGTGTGGATCCTAAACAATTTCAGTTTTAAGGTTTTTTTCTTCTCTTCCGTGTTATTATTTTCTCCCCCAGCCCTGCTGTGAAATGATGGAAATGCATTGGGCTCTGATAGAAAGGAAGTATTTTTAGTGAGTCACATTGGGACATCAGTGACCTCAGTCATTCTTTCTTTTTTTCTTTTAAAACCCGCTCCCAGCACTGAACCCCAGTCATTCTTAATGAAGGTGACTGCATATATCTTGTTCCATTAATGCATGTTGTATTTTTAAAATAGAGCCGATCCCAGTTTCTGATCTCTGTGTTGCCCTCACGGGTGTGAGGAAGGCTGCTCTCTCCTGGAGCAATGGCAATGGCACTGCCTCCTGCCGGGTTCTTCTTGAAAGCATTGGAAGCCATGAGGAGTTGACTCAAGACTCAAGACTTCAGGTCAATATCTCGGGCCTGAAGCCAGGGGTTCAATACAACATCAACCCGTATCTTCTACAATCAAATAAGACAAAGGGAGACCCCTTGGGCACAGAAGGTGGCTTGGGTGAGTTACAAAGGGTACCTTCCGTCTCCCTTACTGGTTCTTACTTTCAGTAACTAAATGTTCTAAAAAATAAATTGCTCTTCCATGTGTATGGAGATTTAGAATTTATAAAGGGCTTTTCCTCCACATTTTAGTTTGATCCCCCACCTGCATGAGGAAGGAAGGAAACGTGTTCTGATTTTACAGGGGAACACATTGGGGCTGAGAACAGCAATAGGAATTGAAACTTTTTAGAGTCTGGCACCCAGGAAAGTTAGAGGCCCCTTTAGCTTTCTATCTAACAGCTGTGTCAACCCAAGTTGGGCCTTCAGAGGAACTTATCACGTCTGCTGGTTGATGTTGGCGTTGTCATTTGCAGGTTTCATAGCATTTGCAGAGGATCCCCAGGATAACTCCATGAGGAGGACAGGCACTTAATCTGCATTTTATACTTAAGAAAACAGAGCTACAGAGTGGGTGTCAGGATCCTTGCTTGCGAGTGACAGAAACCAGACTTTGGATAGCTCAGACAGAAGGAACAATTTATTGGCTCATGTGGATTTTCCTGCTAGCGGGAGGCCTTAGAGAAAGAGATGAGGCAATTCTCATCCCTCCCTCTTGCTTCTTTCTGTTCATCAGCTTCATTCTCAGAGCAGCTCCCTCTGCACACTTAAGGAGCCCAGCTGCTCCTGTTTCACACCCTGCAGCTGCCCCACCAGCCAGCTGCCCCACCAACCAGGGTCTGGTCCAGGGAAACGTGTCTTGAGTGGGGTCTGATTAGCAAAGTCTGCTTCACAGAGCTGTCCCTGGAAATCCATGCTGGGACAGGAGAAGATAACAACCCAAAGAAGGGAGAATGACCTGAAATAAGCAGAGTTTGAAAGAGAAGCACCAGATATCTGTGGTGCTACTGGAATAACAGTACAAATGGAGATGGAGCTATCAGGCCTTTTTATGGGGCTGCCTCTCTCTCTGGAGGAGGAAGGGAGCAGATATTGATGGAGCACCAACTGTGGCCACTGTCTGATGGCCATCTGATGGGGTTGGGGCTCCGAAGGAAAATGGGGGATGTGTCCCTCTTGTGGTTGATGTCTTTTTGTCTCCTGTGCTTGAAACAGATGCCAGCAATACAGAGAGAAGCCGGGCAGGGAGCCCCACCGCCCCTGTGCATGATGAGTCCCTCGTGGGACCTGTGGACCCATCCTCCGGCCAGCAGTCCCGAGACACGGAAGTCCTGCTTGTCGGGTTAGAGCCTGGCACCCGATACAATGCCACCGTTTATTCCCAAGCAGCGAATGGCACAGAAGGACAGCCCCAGGCCATAGAGTTCAGGACAAGTAGGTTGAACTTTGTAAAATGGTGGCAGCCAGAGTTTCCTAGCACAATGTTCTGTCTCCTGTGATTCTGATTCTGAGTGATTTCTTGCATAACAGCTAGTTTTGATGTCAGAGGGAGCTTCCTGGAGGAGATTTTGGACAGAGCAGATCTGCTCAGTTTCTTCTTAACTCCATGGGCAGTGCACATCTCTCATTAAGTGAAATCAAATACATGGAGCAGCCCCTGTGTGCGGGCACCAGGCACTGCCTCACGCCATCTTTCACAGCTTTGCGTGGTGGCTGATGAGACAAACTGGCATCATACTTTCCTCTTAAAAACAAATAATCATTGCTTGTTTTTCCTTTGCTTTGAGTTAAGAAAGTTATGAAAGTGAGTTTCATTTTTTCACCCGCCTTGTAATTCATACCGATCTTTCTGTTGAAATGCTTGTTGACATGCACATTGCTGCTTCCTCGCTATAATTTATCAGCACTTTCACTCTGTAAGTTCACCAATA
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Task1_train_15823
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Consider this mutation in SERPING1 (serpin family G member 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Hereditary angioedema type 1
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CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAGGTATGAACCCCCAGGCCTGCCTACTTCGTGTGTTTTATCTGGCAATGCTGAGAGGACAGCTAGATGTCGAGGACAGCCAGATTTCGAGGACAGCCAGACGTCAAGGGGGAAAGCAACTTGCTGGCTCACACAGCCAGCCAGGTCTATTGTGGAGCCCTAGTCGCAAACACATACACCCCAGCTTTCAAGTTTTTAAATATTTATTTAGTTAGTTATTTGTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACTGCAACCTCTGCCTCCCAGATTCAAGTGATTGTGCCTCAGCCTCCCTAGTAGCTGGGACTACATGTGCGCGCCTGCACTGCCCAGCTAATTTTTGTACTTTTAGCGGAAACGGGGTTTCCCCATATTGGCCAGAGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAGCTTTTTTTTTTTTTTTTTTTTTAATTAGGTTGAATGCTTGTTGAGCTGGGTGCCTCACATCCGTTGTCTGTTATACAAAGAACTACTGATTATGGGTCTCTACGAGCAAAAATGGCAGAACACCTACAGGGCACAGGGGAGATGGGAGCAGGGATTAGGCTTCAGAATACTTCTCCAAATGAGGGTGATCAGGGCCCGACATTTCACTGCTCTAAGGCTCAGTATCTTAACTATCAAATGGGTACAATGGGGCACAAAGGGTTACTTTGAGGAATAACGGAGGTGAGCAATTTCCAAAAAGTTCATTCCTTTAAAAACTGCGGAGCACATTTTGTGTACATGCTGTTTTTATTGTTACTCATGAAGACGCGGGGGAAGCTTTGGTTGTGTAAAGCTGAGAACTGCACCCAAGCTTCCCCGTTCACCCCACCTACCAGGGGATTTGGGCTAAATTCCTGGCCTGGCCCACAAAGAAGACCAAGCGGTCAGTCCCATTCCGTCCCATCCTGATTTACAGGAACTCACACCAGCGATCAATCTTCCTTAATTTGTAACTGGGCAGTGTCCCGGGCCAGCCAATAGCTAAGACTGCCCCCCCCGCACCCCACCCTCCCTGACCCTGGGGGACTCTCTACTCAGTCTGCACTGGAGCTGCCTGGTGACCAGAAGTTTGGAGTAGGTTTGGTGCTGGGCAGGGGTGGGGAGTAGGGTGGAAAGCATGGAGTGAAGAGGTCTAGGGAGGGGGTCTCCTCACCCCCGCCTTCCTGCCCGCCTTGATCTCGGGGGTCTCTATAGGCTTGCTTCCACCTGGGACTTCTGCCTCCTCCTACCCCAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGA
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CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAGGTATGAACCCCCAGGCCTGCCTACTTCGTGTGTTTTATCTGGCAATGCTGAGAGGACAGCTAGATGTCGAGGACAGCCAGATTTCGAGGACAGCCAGACGTCAAGGGGGAAAGCAACTTGCTGGCTCACACAGCCAGCCAGGTCTATTGTGGAGCCCTAGTCGCAAACACATACACCCCAGCTTTCAAGTTTTTAAATATTTATTTAGTTAGTTATTTGTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACTGCAACCTCTGCCTCCCAGATTCAAGTGATTGTGCCTCAGCCTCCCTAGTAGCTGGGACTACATGTGCGCGCCTGCACTGCCCAGCTAATTTTTGTACTTTTAGCGGAAACGGGGTTTCCCCATATTGGCCAGAGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAGCTTTTTTTTTTTTTTTTTTTTTAATTAGGTTGAATGCTTGTTGAGCTGGGTGCCTCACATCCGTTGTCTGTTATACAAAGAACTACTGATTATGGGTCTCTACGAGCAAAAATGGCAGAACACCTACAGGGCACAGGGGAGATGGGAGCAGGGATTAGGCTTCAGAATACTTCTCCAAATGAGGGTGATCAGGGCCCGACATTTCACTGCTCTAAGGCTCAGTATCTTAACTATCAAATGGGTACAATGGGGCACAAAGGGTTACTTTGAGGAATAACGGAGGTGAGCAATTTCCAAAAAGTTCATTCCTTTAAAAACTGCGGAGCACATTTTGTGTACATGCTGTTTTTATTGTTACTCATGAAGACGCGGGGGAAGCTTTGGTTGTGTAAAGCTGAGAACTGCACCCAAGCTTCCCCGTTCACCCCACCTACCAGGGGATTTGGGCTAAATTCCTGGCCTGGCCCACAAAGAAGACCAAGCGGTCAGTCCCATTCCGTCCCATCCTGATTTACAGGAACTCACACCAGCGATCAATCTTCCTTAATTTGTAACTGGGCAGTGTCCCGGGCCAGCCAATAGCTAAGACTGCCCCCCCCGCACCCCACCCTCCCTGACCCTGGGGGACTCTCTACTCAGTCTGCACTGGAGCTGCCTGGTGACCAGAAGTTTGGAGTAGGTTTGGTGCTGGGCAGGGGTGGGGAGTAGGGTGGAAAGCATGGAGTGAAGAGGTCTAGGGAGGGGGTCTCCTCACCCCCGCCTTCCTGCCCGCCTTGATCTCGGGGGTCTCTATAGGCTTGCTTCCACCTGGGACTTCTGCCTCCTCCTACCCCAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGCTGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGA
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Task1_train_15824
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This mutation is located in gene SERPING1 (serpin family G member 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hereditary angioedema type 1
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CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAGGTATGAACCCCCAGGCCTGCCTACTTCGTGTGTTTTATCTGGCAATGCTGAGAGGACAGCTAGATGTCGAGGACAGCCAGATTTCGAGGACAGCCAGACGTCAAGGGGGAAAGCAACTTGCTGGCTCACACAGCCAGCCAGGTCTATTGTGGAGCCCTAGTCGCAAACACATACACCCCAGCTTTCAAGTTTTTAAATATTTATTTAGTTAGTTATTTGTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACTGCAACCTCTGCCTCCCAGATTCAAGTGATTGTGCCTCAGCCTCCCTAGTAGCTGGGACTACATGTGCGCGCCTGCACTGCCCAGCTAATTTTTGTACTTTTAGCGGAAACGGGGTTTCCCCATATTGGCCAGAGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAGCTTTTTTTTTTTTTTTTTTTTTAATTAGGTTGAATGCTTGTTGAGCTGGGTGCCTCACATCCGTTGTCTGTTATACAAAGAACTACTGATTATGGGTCTCTACGAGCAAAAATGGCAGAACACCTACAGGGCACAGGGGAGATGGGAGCAGGGATTAGGCTTCAGAATACTTCTCCAAATGAGGGTGATCAGGGCCCGACATTTCACTGCTCTAAGGCTCAGTATCTTAACTATCAAATGGGTACAATGGGGCACAAAGGGTTACTTTGAGGAATAACGGAGGTGAGCAATTTCCAAAAAGTTCATTCCTTTAAAAACTGCGGAGCACATTTTGTGTACATGCTGTTTTTATTGTTACTCATGAAGACGCGGGGGAAGCTTTGGTTGTGTAAAGCTGAGAACTGCACCCAAGCTTCCCCGTTCACCCCACCTACCAGGGGATTTGGGCTAAATTCCTGGCCTGGCCCACAAAGAAGACCAAGCGGTCAGTCCCATTCCGTCCCATCCTGATTTACAGGAACTCACACCAGCGATCAATCTTCCTTAATTTGTAACTGGGCAGTGTCCCGGGCCAGCCAATAGCTAAGACTGCCCCCCCCGCACCCCACCCTCCCTGACCCTGGGGGACTCTCTACTCAGTCTGCACTGGAGCTGCCTGGTGACCAGAAGTTTGGAGTAGGTTTGGTGCTGGGCAGGGGTGGGGAGTAGGGTGGAAAGCATGGAGTGAAGAGGTCTAGGGAGGGGGTCTCCTCACCCCCGCCTTCCTGCCCGCCTTGATCTCGGGGGTCTCTATAGGCTTGCTTCCACCTGGGACTTCTGCCTCCTCCTACCCCAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGATGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGA
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CATCAGAGACAACCTGTTTGTTTTGCAGATGAGGCAGAGTTATCAGATTTAGCAAAAATACAAAATGCCAATTATATTTGAATTTCAGATACACAACAATGACAACAAAATTTATTTTACCATAAGTATATTCCAATGTAAGCATTTTTACCATAAGTATATCCCAATGTAAGTTTTTTTTTTTTTTTTTAGAGACAGCAAGTGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCAATGCTAACTGCAGCCTTGAACTCCTGGGCTCAAGGGATCCTCCTGCCTCAGTCTCCTAAAAGGCTGGGATTACAGGTATGAACCCCCAGGCCTGCCTACTTCGTGTGTTTTATCTGGCAATGCTGAGAGGACAGCTAGATGTCGAGGACAGCCAGATTTCGAGGACAGCCAGACGTCAAGGGGGAAAGCAACTTGCTGGCTCACACAGCCAGCCAGGTCTATTGTGGAGCCCTAGTCGCAAACACATACACCCCAGCTTTCAAGTTTTTAAATATTTATTTAGTTAGTTATTTGTTTTTTGAGACAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCAGCTCACTGCAACCTCTGCCTCCCAGATTCAAGTGATTGTGCCTCAGCCTCCCTAGTAGCTGGGACTACATGTGCGCGCCTGCACTGCCCAGCTAATTTTTGTACTTTTAGCGGAAACGGGGTTTCCCCATATTGGCCAGAGTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCTAGCTTTTTTTTTTTTTTTTTTTTTAATTAGGTTGAATGCTTGTTGAGCTGGGTGCCTCACATCCGTTGTCTGTTATACAAAGAACTACTGATTATGGGTCTCTACGAGCAAAAATGGCAGAACACCTACAGGGCACAGGGGAGATGGGAGCAGGGATTAGGCTTCAGAATACTTCTCCAAATGAGGGTGATCAGGGCCCGACATTTCACTGCTCTAAGGCTCAGTATCTTAACTATCAAATGGGTACAATGGGGCACAAAGGGTTACTTTGAGGAATAACGGAGGTGAGCAATTTCCAAAAAGTTCATTCCTTTAAAAACTGCGGAGCACATTTTGTGTACATGCTGTTTTTATTGTTACTCATGAAGACGCGGGGGAAGCTTTGGTTGTGTAAAGCTGAGAACTGCACCCAAGCTTCCCCGTTCACCCCACCTACCAGGGGATTTGGGCTAAATTCCTGGCCTGGCCCACAAAGAAGACCAAGCGGTCAGTCCCATTCCGTCCCATCCTGATTTACAGGAACTCACACCAGCGATCAATCTTCCTTAATTTGTAACTGGGCAGTGTCCCGGGCCAGCCAATAGCTAAGACTGCCCCCCCCGCACCCCACCCTCCCTGACCCTGGGGGACTCTCTACTCAGTCTGCACTGGAGCTGCCTGGTGACCAGAAGTTTGGAGTAGGTTTGGTGCTGGGCAGGGGTGGGGAGTAGGGTGGAAAGCATGGAGTGAAGAGGTCTAGGGAGGGGGTCTCCTCACCCCCGCCTTCCTGCCCGCCTTGATCTCGGGGGTCTCTATAGGCTTGCTTCCACCTGGGACTTCTGCCTCCTCCTACCCCAGCCCCTCCCGCCTCAGGCCTGTTGTGCTCAGCCCCCCAGGACCTCCCCTCCCCCACGCCTCTGGCCTCATTGTTTGGTTAAAGCAGGACCCCCTCCCCCTCCCACCACCTCCCCTCCGACTGAACAGATGGACAGAGACCCGGGCCCACGGGGAGAGGAAGGGCCAGCCGGTGCCGGGAAAGGGAAGCGGTTTGGGGAAAACAAAACAGAGGGAGGAGCCAGGGAGAAGGTGGCCCCAGGAGGGAGGAGGAGGGAATTCGCTAAGAGGGACTGGGGCCTGAGACGGAATGGGGGCGGGCCCCGGGCGGGGTGGGGGCCCCTGGGCTCCCAGGGTGGGAGCTGGCTCCGAGGCTGGCTGGCTCCGCAGGTCCGCTGACGTCGCCGCCCAGGTGGCCTCCAGGCTGACCCTGCTGACCCTCCTGCTGCTGCTGCTGGCTGGGGTATGTGGTCCCTTGTGGGATGGGGGACGGGGGTGGAGACGGGAGGCGGGATGGTGCGGGGTGCGGGCGGTGGCTGAGGATTAACCCTTCAGGCTCCGGGGAATGAGGAGAGCTCCTCTTGGGATCATTGAGTGTGATCCTTGCACACGCACTCGTAGATGGTGGAAAGAGCTCAGGACTCAGACAGATGCAAGTTCTAATCTTGGCGGGCCATGTAGGAGCTGCGCAGCGTGGTCCTGAGGACGTCACTTTTCTCAGCCTACTCCTCCTGATTTATAAAATGTTGAATAAACAGATCCCACCCTGTCCACCAAGCAGGCTTGGCAGGAGGATCACATAGGGCAAGGAGATGGGAAGCATTTTGTGATATCAAAGCAAGAGTTTGTTGTAGAAAAGAGCTGTGGGGAGGAGAGGTTTGGCTGCTGTGACACAGACGGTGGTCCCAGGCTAGGGCCTGTGAAGACAGGGAAGAATGGTAGCAAACATACGTGGGTCTGGGTGGGGGTCAATAGCAGTGAGAGGTCCCAGTGGTCTGGGAGGTCATGGACTAGAAATAAGGCTAAGAAGTGCAGGATCCCAGGAGAAAGGTAGGTAGGGGTGTGTGTATGTGCGTGTGTGTGTGTGTGCACGCGCAAGTTGGTATCACATACTCAGCAGATGATGTAGTTATGAGCAGGGAGTTTGGAATCAGAGACCTTGTTTTGACCCCTAGCTGTTTCTCCCATTTCTGTGAGACCCTGGACTAGTTAATATGTGTCGGTATGAGTTTCTCTACCTGTGAAATGGAGCTAATGCGTGGTTTCTCAGTGGAGGATCTGTTGACATTGGGGCTGGATAATTCATTGCTGAGGGGCTACCCTGCGCATTTTAGGATGTTTTGCAGTATATCTCTAGCCTCTACGCACTAGATTCCGGTAGCATCTTCCCTGCTGTCTCCCTGTGACAACCAAAAATGTCTCTGGACATTGCCAAATATCCCCTGGGAGTCAAAATTGTTTCAGAGCCGCTGGCCTATACTACTTCTCTCTCCCTCCCTTCCTGCCTCCCTTCTTTCCTCCTTCCCTTTCTTCGTTCCCTTCCTAATGTGTACTGTTTTTCCACACCCACTAATGGGTTGCAACCCACAGTTTAAAAATTTACTGTTCTAAATCAAGGAGCACAAGTTCAAATGTCTGTACTAGCCAAGCAAGTGAGTCAAACAGGTAGATATTTACAGGAAATTGCAAGAACATAGATAAATGACAACACTCAGCTTCACTGTTTGGAAAACAACTTCCTACAGGGCAGTAATTGGTCAGAGATTACAGAGTCCCTGACTATCCCTCATCTTCTGCAGAGCACATTCCTGTGCACCCCCACCCTCACCCTGTATTGCCCCTTCTCTGAGGAATTAGTGGTGGTGGTTCTAAGACAGATTGCTCATCTGCCGCACTGTCAGAAATTACTCTCTTGTACAGGACATTTTCCACATCCACACCTTCTCTTCCTGCTTTGAGTATTTTAGAGGACTGTGCCTCGTAGTAAGAAAAAAATGAAACTCAGTTTCTTGAACCACAGGATAGAGCCTCCTCAAATCCAAATGCTACCAGCTCCAGCTCCCAGGATCCAGAGAGTTTGCAAGACAGAGGCGAAGGGAAGGTCGCAACAACAGTTATCTCCAAGATGCTATTCGTTGAACCCATCCTGGAGGTTTCCAGCTTGCCGACAACCAACTCAACAACCAATTCAGCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGA
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Task1_train_15825
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Gene SERPING1 (serpin family G member 1) on Chromosome 11 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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GCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTGTGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGAATGGGCAGTGTCTGCAGAGGAGGGTCCTGAGAGGACTCTGAAGGGGGACCCAGCGCTGGGGAAAGAAAGGACAGAGGGAATGTTGGAGCTACAGTATCAGGGATGGACTGCAGAGCAGGTGAAGACCTTGGCAGGAGCATTAGGTCACTCCAGGAACTAGACTGTTCTTCTAATGAGACCTTAGACAAGTCTCTGGCATTCATCAACTGCTTTAGAATAAAAATAACCGGGCAGGTACAGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGGGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAACAAAAACAAAACAAAAACAAAAAAAAAAACAAAGAAGGAGAAAGCCGGGCCGGGCATGGTGGCTCTCATCTGTAAGTTCAAGGAGTTGAAGGTATGCTAGGACTTTGGGAGGCCAAGGCCTTCAAGACCAGCCTGGGCAGCATGGCGAAACCTGTCTCCATTAAAAAAAAAAAAGTTGGGGGTACGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGAACACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAACACAAAAATTAGCCTGGCATGGTGGCAGGCGCCTATAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGAGTGAAGGTTGCAGTGAGCTGAGATCATGCCACTTCACTCCAGCCTGAGTGAAACAGCAAAACTCTGTCTCAAAAAAAAAAAAAGGAAGAAAGAAAAAAGGCCAGGCGCGGTGACTCACGCCTGTAATCGCAACACTTTGGCAGGCCGAGGCAGGCGATTCACAAGGTCAGGAGTTCGAGACCAGTCTGGCTAACTAACATAGTGAAACTCCGTCTCTACTGAAAATACAAGAAATTACCCTGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGACCACGAGGTCAGAAGATCAAGACCATCCTGGCTAACAAGATGAAACCCTGTCTCTGCCAAAAAAATACAAAACTTAGCCGGGCATGGTGGCAGGCGCCTGTGGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAATGGGGCGGGCGGGCCAGGCGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACCAGGAAACCCTGTCTCTGTTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTAGTCCCAGCAGGAGAATAACTTCAACCTGGGAGACAGAGGTTGCAGTCAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAA
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GCCACCAAAATAACAGCTAATACCACTGATGAACCCACCACACAACCCACCACAGAGCCCACCACCCAACCCACCATCCAACCCACCCAACCAACTACCCAGCTCCCAACAGATTCTCCTACCCAGCCCACTACTGGGTCCTTCTGCCCAGGACCTGTTACTCTCTGCTCTGACTTGGAGAGTCATTCAACAGAGGCCGTGTTGGGGGATGCTTTGGTAGATTTCTCCCTGAAGCTCTACCACGCCTTCTCAGCAATGAAGAAGGTGGAGACCAACATGGCCTTTTCCCCATTCAGCATCGCCAGCCTCCTTACCCAGGTCCTGCTCGGTAAGACCCTGCTTGAATTCTCTCCAGGTCATTTGTTGGACACTCCCATAAGAGTCACCAATCCAGACACTTACAAAGCCATGCCTCTGGGAAGAAGCTGTAAAAATGGGCTATTATATATTGGGGGTGGGGTAGAGGGATGTATCTTTTCATTCTTGAACATTCCATCATTTCACAGTGATGTAATAGGCACGATTGCTTGTAAAACTCTGTGACTATACAAGAACATATAAAATAAGGTCGCAGCCACTAACCATGTTTCATGGCAAGGAGAGGTGATAAGAAAGATGAAATTAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCAGGGAGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGCAGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGACCGCACCATTGCACTACAGTCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATCAGAGATAGACCTAGAGTAGATGTGGTTAGTACTGCCTTCTAGCTCTGTGACCTTGGGCAGATCACTTTAACCTCTCTGAGCCTTGAGTCCTCTTGTGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCCGGATGCGGTGGTTCACACCTGTAATCCCAGCATTTTAGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAGAAATTAGCTAGGCATGGTGGTGCACACCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACACGGGAGGCAGAGGTTGCAGTGAGCCGAAATCATGCCACTGCACTCCAGCCTGGGAAGACTGAGCAAGACTCTGTCTCAAAAAAAAAAAAGAAGCAGCCTAGTGTCTGACTTAGTGGGAGGTCAAAAAAATGTAAATCCTCTGCCATCTTGAGGGATTACTGTCAAGTCCCATTTGGTAATTACCCTAGGAATGGCACAAACAAATTACTACAAGCAGTGGGGACAGAGCTATTACTCCCCAGAGAGAATTCTAAAAAGGCTACAGAATCTTTCTTGGCTGGGCACGGTGACTCACACCTATAATCCTGGCACTTTGGGAGGCCAAGGCAGGAGTTCAAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCTACTAAAAATGCAAAAATTAGCCAGGCATAGTGATGCATGCTTATTGTCCCAGCTACTTGGGAGGCAGAGGTGGGAGGATTGCTTGAACCTGGAGATTCAAGTGAGCTGAGATTGCACCACTGCATTCCAGCCTGGGCAACAAAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAGAGATTGAGAGAACACTTCCAGCTCAGATGATCTGTGATCCCCTCCAAAGCAGGGAATACCCTCCATTCCAGCCTGGTCCCCAACCCTCATTCCCAAGGAAGGCCCCCGACTCATCCTGCAAGTATCTTTCATCTCTGCCCTTTGTTGCAGGGGCTGGGGAGAACACCAAAACAAACCTGGAGAGCATCCTCTCTTACCCCAAGGACTTCACCTATGTCCACCAGGCCCTGAAGGGCTTCACGACCAAAGGTGTCACCTCAGTCTCTCAGATCTTCCACAGCCCAGGTGAGTGCCCAGGAATGGGCAGTGTCTGCAGAGGAGGGTCCTGAGAGGACTCTGAAGGGGGACCCAGCGCTGGGGAAAGAAAGGACAGAGGGAATGTTGGAGCTACAGTATCAGGGATGGACTGCAGAGCAGGTGAAGACCTTGGCAGGAGCATTAGGTCACTCCAGGAACTAGACTGTTCTTCTAATGAGACCTTAGACAAGTCTCTGGCATTCATCAACTGCTTTAGAATAAAAATAACCGGGCAGGTACAGTAAAATAGTGATGATGCTATCTACCTCAAAAGATTAAGAAGCAGAAAGCCAGGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACGAGGTCAGGGGTTCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATGACGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAAAAAACAAAAACAAAACAAAAACAAAAAAAAAAACAAAGAAGGAGAAAGCCGGGCCGGGCATGGTGGCTCTCATCTGTAAGTTCAAGGAGTTGAAGGTATGCTAGGACTTTGGGAGGCCAAGGCCTTCAAGACCAGCCTGGGCAGCATGGCGAAACCTGTCTCCATTAAAAAAAAAAAAGTTGGGGGTACGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGAACACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATTAAAAACACAAAAATTAGCCTGGCATGGTGGCAGGCGCCTATAATCCCAACTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAAGAGAGTGAAGGTTGCAGTGAGCTGAGATCATGCCACTTCACTCCAGCCTGAGTGAAACAGCAAAACTCTGTCTCAAAAAAAAAAAAAGGAAGAAAGAAAAAAGGCCAGGCGCGGTGACTCACGCCTGTAATCGCAACACTTTGGCAGGCCGAGGCAGGCGATTCACAAGGTCAGGAGTTCGAGACCAGTCTGGCTAACTAACATAGTGAAACTCCGTCTCTACTGAAAATACAAGAAATTACCCTGGCATGGTGGTGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACTCTGTCTCAAAAAAAAAAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGACCACGAGGTCAGAAGATCAAGACCATCCTGGCTAACAAGATGAAACCCTGTCTCTGCCAAAAAAATACAAAACTTAGCCGGGCATGGTGGCAGGCGCCTGTGGTCCCAACTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACACCATCTCAAAAAAAAAAAAAAAAAATGGGGCGGGCGGGCCAGGCGCGGTGTCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACACCAGGAAACCCTGTCTCTGTTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTGTAGTCCCAGCAGGAGAATAACTTCAACCTGGGAGACAGAGGTTGCAGTCAGCTGAGATCGCACCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAA
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Task1_train_15826
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A mutation on Chromosome 11 affecting SERPING1 (serpin family G member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; not provided
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CACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTACAATCACTATTTTAAATAACAAACATACAGGTTACCCTGAACTTAACACCTGGTTTTAACATGATGAAGTTGGTTTCTTTTGTCATTCTTATACTAAATTCTAAATCTTCCTGGCACTTAAGGATATTTACCCAAGGAAGGGGGTGAGATTTACCGGCTCAGGTACACCGAGGTTACTGGCTTGAAAATTCAAGACCACAGCATGGTAAATTTTTCTTCAGAGATTCAAGGTTCATACATAGGACTTGAAGGGCACATGCTACTCAAATGAGTATATCCAACTTGAGTGCTACATCAACAGGGACCCCATGTCCACTCTTTTCAGTCGAAATTGGCTTACTATCTACTTCTTCTGGGCTATTCAGGTTCCGACAATTGATTGCTTTCAGTTAATTTCTTTATTGCCCAGTTGAATTCTGCATTCTTCTAGATTCTTTTTGTTCCTTCAGCCTCAATCATAATACCATTTAATGACAGTCTCATATCCTATTAGACTAGGGTTTCTCAGCCTTGGCACTATTGACATATTGGGTCAGATAATTCTTTGTCCTGTGCATTGTAGAATTTAGCATCTTCCTTAGCTTCTACTCACTAGAAGCCAGTAGCACTGTGTGCACATCCTCCTTGCCCCCTGCCAGCTATGACAACCAAAATGTCTCCAGACATTACCAAATGTCCACTGAGAGGCAAATTCACTCCGAGTTGACAACCCCTGTATTAAACCCAGGGGCCCTGCACTTCTTACATACTTTTGTCTGGTCACCAGTTGAAAGTCCTTCTTCTTTTTTTTTTCTCTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCATCATGGTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCATGACCAAAAGTCCTTCTAATAGCAAAGTGGAAAGGTAGGCTGTGAACAATCTTGAATGCCATACTAAGATTTGTACTTATTCTCATAGGCAGTGAAGAGCCATCAATAGTTTTTACAGAGGCTGACCTGATAACTCTGGCGGTTCAATGTGCATGCTATATACTATATGCACAACACATTAGGAAGGAAGGGAACAGCGCTCAGAGAAATCAAATCACTTGCCCATATTACATAGCTCGTCAGTGGTGGAGTCAGGGTATAATCAGAAACTCATGCTCCTTCCTCTACCTCTCCCCAGCACAGAGTTGGATCAGCACTGTTCACCCAGCTGGTATCCCCATTTCATGGTAAAGCCTGGAAGCTTAGGTCTGACTGATGCTTGTTGAAATACAGACTGTGGGAGCAGACTGCAGGACAGCATTGTGACAGAGGGTGGGGCCAGGAGAGAGATGCGGTAGGAAGACTGTTAAGATGCATCTCTTATTTTCTAGGTGGGGCAGCTGCAGCTCTCCCACAATCTGAGTTTGGTGATCCTGGTACCCCAGAACCTGAAACATCGTCTTGAAGACATGGAACAGGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACTGGAGATGTCCAAGTTCCAGCCCACTCTCCTAACACTACCCCGCATCAAAGTGACGACCAGCCAGGATATGCTCTCAATCATGGAGAAATTGGGTGAGCTCTGGCAGCTTAGGGTTACTCCCAGGCCATCAGAGGAGAAAGGGGGGATCCCTAAGATGTAGTTAGCATTCTCTAGAGTATTTTTTACATCCATAATCTCAGTTTGTCCTGCAACCCTGCAAGTTAGAGGGGTAGGTGCTATTATCCCATTGGATCATTGTGGAAATGGAGGCTCAGAAGCTTTATGTGACTTACCCAGAGATTCCATGATTTACCCTTGAGCTAGTCAGAGGCAAACCAGAACACCGACCCAGGTCTCCAGCTCTCCTGAGTTTTTTCTATGGTTCCTTGTGACATAGGCAGTGGAACAGTGGGACAGGTAACCGAGGTGAATTATGGATGCTCCTTCCCCAGACACATTTCAAAACAGTCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTA
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CACTTACTGTAACCTCAAGCTCCTTGGGATGAAGCAGTCCTCCCACCCTAGCCTCTTAAGTAGCTGAGATTCCAGGCATGAGCCACCTCACCCAGCTGATTTTCTTTTTAAACACATCTAATACCTGACAGGTCGTAATTACGACTGTGCTTGGCCATATCATCCTAACACCTAAAGCTCACTTGTAAACTGAAAATTAAATTTGAAGGGTGAATTAACTTCTAGCCAACATTCCAATATCATTCTCACATTTAATGAAATTATCCTACAACTTTGCTTAAAAGCATAAAACTAGCATGTCAGAGTCTCTTAAAAATTACAATCACTATTTTAAATAACAAACATACAGGTTACCCTGAACTTAACACCTGGTTTTAACATGATGAAGTTGGTTTCTTTTGTCATTCTTATACTAAATTCTAAATCTTCCTGGCACTTAAGGATATTTACCCAAGGAAGGGGGTGAGATTTACCGGCTCAGGTACACCGAGGTTACTGGCTTGAAAATTCAAGACCACAGCATGGTAAATTTTTCTTCAGAGATTCAAGGTTCATACATAGGACTTGAAGGGCACATGCTACTCAAATGAGTATATCCAACTTGAGTGCTACATCAACAGGGACCCCATGTCCACTCTTTTCAGTCGAAATTGGCTTACTATCTACTTCTTCTGGGCTATTCAGGTTCCGACAATTGATTGCTTTCAGTTAATTTCTTTATTGCCCAGTTGAATTCTGCATTCTTCTAGATTCTTTTTGTTCCTTCAGCCTCAATCATAATACCATTTAATGACAGTCTCATATCCTATTAGACTAGGGTTTCTCAGCCTTGGCACTATTGACATATTGGGTCAGATAATTCTTTGTCCTGTGCATTGTAGAATTTAGCATCTTCCTTAGCTTCTACTCACTAGAAGCCAGTAGCACTGTGTGCACATCCTCCTTGCCCCCTGCCAGCTATGACAACCAAAATGTCTCCAGACATTACCAAATGTCCACTGAGAGGCAAATTCACTCCGAGTTGACAACCCCTGTATTAAACCCAGGGGCCCTGCACTTCTTACATACTTTTGTCTGGTCACCAGTTGAAAGTCCTTCTTCTTTTTTTTTTCTCTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAGCCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCACCCAGCTAATTTTTGTATTTTTAGTAGAGGTGGGGTTTCATCATGGTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCATGACCAAAAGTCCTTCTAATAGCAAAGTGGAAAGGTAGGCTGTGAACAATCTTGAATGCCATACTAAGATTTGTACTTATTCTCATAGGCAGTGAAGAGCCATCAATAGTTTTTACAGAGGCTGACCTGATAACTCTGGCGGTTCAATGTGCATGCTATATACTATATGCACAACACATTAGGAAGGAAGGGAACAGCGCTCAGAGAAATCAAATCACTTGCCCATATTACATAGCTCGTCAGTGGTGGAGTCAGGGTATAATCAGAAACTCATGCTCCTTCCTCTACCTCTCCCCAGCACAGAGTTGGATCAGCACTGTTCACCCAGCTGGTATCCCCATTTCATGGTAAAGCCTGGAAGCTTAGGTCTGACTGATGCTTGTTGAAATACAGACTGTGGGAGCAGACTGCAGGACAGCATTGTGACAGAGGGTGGGGCCAGGAGAGAGATGCGGTAGGAAGACTGTTAAGATGCATCTCTTATTTTCTAGGTGGGGCAGCTGCAGCTCTCCCACAATCTGAGTTTGGTGATCCTGGTACCCCAGAACCTGAAACATCGTCTTGAAGACATGGAACAGGCTCTCAGCCCTTCTGTTTTCAAGGCCATCATGGAGAAACTGGAGATGTCCAAGTTCCAGCCCACTCTCCTAACACTACTCCGCATCAAAGTGACGACCAGCCAGGATATGCTCTCAATCATGGAGAAATTGGGTGAGCTCTGGCAGCTTAGGGTTACTCCCAGGCCATCAGAGGAGAAAGGGGGGATCCCTAAGATGTAGTTAGCATTCTCTAGAGTATTTTTTACATCCATAATCTCAGTTTGTCCTGCAACCCTGCAAGTTAGAGGGGTAGGTGCTATTATCCCATTGGATCATTGTGGAAATGGAGGCTCAGAAGCTTTATGTGACTTACCCAGAGATTCCATGATTTACCCTTGAGCTAGTCAGAGGCAAACCAGAACACCGACCCAGGTCTCCAGCTCTCCTGAGTTTTTTCTATGGTTCCTTGTGACATAGGCAGTGGAACAGTGGGACAGGTAACCGAGGTGAATTATGGATGCTCCTTCCCCAGACACATTTCAAAACAGTCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTA
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Task1_train_15827
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This mutation occurs in SERPING1 (serpin family G member 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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TCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTC
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TCAGCCACCCCGTGGAATATGCAAGAAGCTATCTGGAAGTGCAGATCTGGAGGCTTCTGAGTTTACGAGAGGCAACAGAGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTATGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTC
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Task1_train_15828
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This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
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AGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATT
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AGACTCCATTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGAGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATT
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Task1_train_15829
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Located on Chromosome 11, this mutation impacts SERPING1 (serpin family G member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
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TCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAAT
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TCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTACAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAAT
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Task1_train_15830
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A variant was discovered in gene SERPING1 (serpin family G member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hereditary angioedema type 1
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CTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATT
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CTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGTAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATT
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Task1_train_15831
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A variant was discovered on Chromosome 11, affecting SERPING1 (serpin family G member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Hereditary angioedema type 1
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TTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCAC
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TTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCAGCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCAC
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Task1_train_15832
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Located on Chromosome 11, this mutation impacts SERPING1 (serpin family G member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; not provided
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GACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCT
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GACGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGTCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCT
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Task1_train_15833
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This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
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CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTC
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CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCAGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTC
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Task1_train_15834
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A variant was discovered in gene SERPING1 (serpin family G member 1), Chromosome 11. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hereditary angioedema type 1
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CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTC
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CGGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCTGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTC
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Task1_train_15835
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This alteration occurs within gene SERPING1 (serpin family G member 1) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Hereditary angioedema type 1
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCACACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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Task1_train_15836
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The variant affects gene SERPING1 (serpin family G member 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Inborn genetic diseases
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCACACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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Task1_train_15837
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This variant affects the gene SERPING1 (serpin family G member 1) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary angioedema type 1
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCACACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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Task1_train_15838
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A mutation on Chromosome 11 affecting SERPING1 (serpin family G member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; C1 inhibitor deficiency
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCACACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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Task1_train_15839
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Gene SERPING1 (serpin family G member 1) on Chromosome 11 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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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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GGAGTCTTGCTCTGTCACCCAGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCCCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCT
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Task1_train_15840
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Given this context: Chromosome 11, gene SERPING1 (serpin family G member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hereditary angioedema type 1
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AGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCTCAGTTTCCCAAAGTCAATCT
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AGGACAGGCTGGAGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAATGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCTCAGTTTCCCAAAGTCAATCT
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Task1_train_15841
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Mutation context: Chromosome 11, Gene SERPING1 (serpin family G member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hereditary angioedema type 1
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AGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCTTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCTCAGTTTCCCAAAGTCAATCTCTCAGGCTGCTG
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AGTGCAGTGGTGCGATCTCTGCTCACTGCAAGATCCGCCTCCCAGATTCACGCCATGCCATTCTCTCGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAACCAGGATGGTCACAATCTCCGGACCTTGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCGCGCCCAGCCCAGAGACTCCATTTTCTAACCTTTGTTTTTTTGTTTGTTTGTTTTTGAGACGGAGCCTCACTCTGTCACCCAGGCTGGAGCGCAGTGGCATGATCTTGGGTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCTACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTGAAGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTCATTTTCTAACCTTTGATCTCATGTCCAGCCCTGTCACTTCATTTCTTGTTAGAGAATTTGACCGCCTAACACATGATTCCATTTCCTTGTATATGTCATCTGTATAGGAAGAAAACCTCTTTTTTATTTTCATTCAACACTTCTGGCCACCAAACAGGTGTGGGAGTGTTTTCTAAGCAATTCTCCAGTTATCTGGGGACACCAACTGGGTGTCCTACAATTGAATCCAATTCTAACACTCTACCTGGAAATAACATCAGATCCCGTGCAGTTTAAGTGCTCCGCCCCAGCAAATTTCCCCCCGTTTCCAATGTCAGTTACAAGACTGGGTTGTCACCTGTGCATCAGACCAACCAGCTATAATTTGGAGATTCCCACAACTCCCTGCTAGGGTTTCATCATTTGCTAGAATAGCTGACAAAACTCAGGAGACACTTACATTTACTGGTTTATTATGTAAAGGATTAAGTAAAGGATACAGATGAACAGCCAGTTGAAGAGATACATAGGGCAAAATCTGGAAGGGTCCTGGGCCCAGCAGCATCTATCCTGTGGAGTTCTGTTTGCTACCTTCCTGACACATGTATGTGTTCACCAACCAGAAACTCTCAGAACCCTGTACTTTAGGAGAAGTCATCATGTAGGCATGATTGATTATTACCCAATCTCCAGCTCCTCTCTTCTCCCCAGAGGATGGAGAGAGGGGCTGAAAGTTCCAAGCTTCTAATCACACTTGGTCTTTCTGGTGACCAGCCCCAATCCAGGAGCCAGCAGGAGTAGCCTCATTAGCACAAAAGGCATTCCTATGACCCAGGAAATTCCAAGGGATCTAGTAGCTCTGTGTCAGGAACTGGGATCGGAGACCAAATATTAGATGGTCTAATATTTGGAGCTAAAGATGCTCCTATAGCATATTTTCCCATTATTTCACAGCATCATGGCATTGCATATAACCTCATTTTTTCATATATGACCTATCTCTGATCTATTACCTCACTTCCAAGGTCCTGGGAGATAAGGAGGCAATGACATCATTTTTCAGGGTTGTTTTAGGGATGAGGGGCAAGGCCTCTCACCTTGAGAGAGAGTGGCAGTGTTGGGCCCACTAATAGAGGATCCCACGAACTGCCAGAGGGTACAGTATGTAATCTGGCAAACAAGGGAAGAGGAAGAGAGCACTGGGACTCAGGATGAACCCAGAGAATTCAGGACAAAGGTCTCCATCAGCTGAGGGTATCATGCTGGCTTCTGACTCTGTTTTTCTCTGGTTTTGCCCTAGAATTCTTCGATTTTTCTTATGACCTTAACCTGTGTGGGCTGACAGAGGACCCAGATCTTCAGGTTTCTGCGATGCAGCACCAGACAGTGCTGGAACTGACAGAGACTGGGGTGGAGGCGGCTGCAGCCTCCGCCATCTCTGTGGCCCGCACCCTGCTGGTCTTTGAAGTGCAGCAGCCCCTCCTCTTCGTGCTCTGGGACCAGCAGCACAAGTTCCCTGTCTTCATGGGGCGAGTATATGACCCCAGGGCCTGAGACCTGCAGGATCAGGTTAGGGCGAGCGCTACCTCTCCAGCCTCAGCTCTCAGTTGCAGCCCTGCTGCTGCCTGCCTGGACTTGGCCCCTGCCACCTCCTGCCTCAGGTGTCCGCTATCCACCAAAAGGGCTCCCTGAGGGTCTGGGCAAGGGACCTGCTTCTATTAGCCCTTCTCCATGGCCCTGCCATGCTCTCCAAACCACTTTTTGCAGCTTTCTCTAGTTCAAGTTCACCAGACTCTATAAATAAAACCTGACAGACCATGACTTTCTCTGCTTTGCCTTTGTTTTTTTATTTTTTATTTTTTATTTTTTTTAGGCAGGGTCTCAATCTGTCACCCAGGCTAGAGTACAGTGGTGAGATCATGGTTCACTGCAGCCTTAACCTCCTGAGCTCAAACAATCCTCCCATCTCAGCCTCCTATGTAGGTGGGACCACATGGGCTTGCCACCATGCCCAGCTAATTTTTAAATTTTTTGTAAAGACAGGGTCTTACTATGTTGCCTAGGCTGGTCTCCAACTCCTGGGCTCAAGCAATCATCCTAACACAGCCTCCCGAAGTGCTGGGATTGTAGGCACACCATACCTCTCCTTTGCCTTTGAATATCAGCTGCTTCAATACTAAAGGACAAGAGCGCCCATGGTTCCTGTATCAGCCAGCTATTGCTGTATAGTAAGTCACGTTAAACTTAGTGGCTTCAAACAGCAACCCTTTGTTATTTTATGTAAGTTTCAGAGTTGACTAGGTGTTTTGCTGATCTGGGCTGAACCTGGCTGATCTTCCCTGGGCTCATTCATACATCTGTAAGGTATAGTTGTTGGGTTGGTTAGGGGATGACTGGTCTTCTGTGGCCTCAGCCATGACACCAGGACAACTTGGCTCTTCTACATGTCTTGTATGTCCTTCCAACAGGCTAGTCTGTAATGGAAAAGAGTCAAACAGCCAGTCTCTTTTTGTTTACCATTGTCCTGCAGCCAAAGCAAATCACAGGACCAAACCTAGAGTTAGACTGGAAAAGCACTACAAAGTGACAGGGCAAAGAGACGTTAATTGGGGACTATTCATGCAGTCCATTTCTCACAGCCCCTATCTTGCTTATTTGTCTGCAACAACTCTGACAACAATAATGACAGTAGCTAACGTTGGGAACATAGGCAGTCTGCTAAGAGTTTTGCAGGCATTTAATCTTCACAATAAATTTATATGGTAAATTCAGAGAGGCTAAGTCTTGTTCAAAGTCCTGTAGTTAGGAAATGATGAAACTGAGATTTAATAGCACCTCTTATGACTCTTTTTTTTTTGAGACAAAGTTTCTCTTTTGTTGCCAAGGCTTGAGTATAATAGCACAATCTCGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGCACTACCACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGTTTTCTTTTTTTTTTTTTTTCCGAGATGGAGTCTTGCTTTGTCGGCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTCAACCTCCACCTCCCGGGTTCAAGTAGTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCACCACCAAGCCCAGCTAACTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTGGACCAGGCTGGTCTCAAACTCCTGACTCCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGGCATTACAGGTGTGAGCCACTGTGCCCGGCCTAGTGAAAACAATCTTCTTTACTCAGTCTACCAGCTCAAATACCAGTCTCTTCAGGAAACAACCTCACAGACACACCCAGAAATGATATCTTACCAGTTGTCTGGGCATCCCTTAGCCCAGTAAAATTGACACATAAATTTAACCACCCCACACCTTCCCTTCTCAGTTTCCCAAAGTCAATCTCTCAGGCTGCTG
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Task1_train_15842
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A variant affecting Chromosome 11, within the gene TMX2, TMX2-CTNND1 (thioredoxin related transmembrane protein 2| TMX2-CTNND1 readthrough (NMD candidate)), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
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CATCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGACGGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTG
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CATCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAATGCGAAGACGGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTG
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Task1_train_15843
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An alteration has been detected in TMX2-CTNND1, TMX2 (TMX2-CTNND1 readthrough (NMD candidate)| thioredoxin related transmembrane protein 2) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
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TGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGACGGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAA
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TGCCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGCCGGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAA
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Task1_train_15844
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This gene mutation involves TMX2, TMX2-CTNND1 (thioredoxin related transmembrane protein 2| TMX2-CTNND1 readthrough (NMD candidate)) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
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CCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGACGGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGG
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CCCAGGCTGGAGTGCAGTGGCACAATCTTGGTTCACTGCAGCCTCGACCTCCTGTGTTCAAGCGATTCTCCTCCCTTAGCCTCCTGAGTAGCTGGGGCTACAGGCATGCATTACCACGCCCGGTTAATCTTGTATATTTTGTAGAGACTGGGTCTCGCCATGTTGCCCATGCTGGTCTCAAACTCCTGGGCTCAAGGGATTCTGCCTCGGCCTCCCAAAGCGCTGGGATTACAGGCGTGAGCAACGCGCCTGGCCACCTTCAATTTTTATCATGTTTTCTTTTCCTAGCATTAACCACTTTCTGACATTATCTTGTTTACAATGCCTCCTCCACTGAAATGTACATCCCAAAAAAGGCAAGCATCTTGTCAGTCTTGTTCACAACTGTCTCCAGCATTTAGAAAAGTGCTTGGTACATAGGTACTCAACAAAATAATTTTTTGAATGAAGAGTTTGGTTCGATTCTTATCCCTTTTTTGATCAGACCAGGAAATGCCGGAACCTTAGAAGGAAGAATGGCAACTTGCCCCAAACCAATAGCAAGTCTGTGGGAGACCTGTAACTAAAACTTTGGGTCCCCAAAGATATTAAATCAGGCCTCTCGAGTTCCAAACTCAAACCCTGGATTTTGTTTGTTTTGAGACGGAGTCTCGTTCGCCCAGGCTGGAGTGCAGTGGAGCAATGTCGGCTCTCTGCAACCTCCGCCTCCCGGGGTTCAAACGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGAATTAAAGGTATACGCCACCACGCCCAGGTAATTTTTGTGTTTTTTGTGGAGACAGGGTTTCATCATGTTGGCCAGGCCGGTCTCGAACTCCTGACCTTAGGTGATTCGCCCGCCTCCGCCTCCCAGAGTGTTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTAGGTCATTTTTTAGAGAGACATAAACCAGTGTCAGGGACACAGCCTGGACATGGTGCAAAAGACAGTAACGGAGATGCACTACGCCCCTGCCCGCCATTCATCCCTTTGGTTGAATTCAACTCATCCTGGTTGAATTCAAGTCATCCCTCTGCTTGTGAATCCTAACAGCGCTTCCGACTTAGGGCTCCACAGTCCGGGTATGCGTTGCCTAGGTTACCTCGCACCTCCGCTAGCCGGCTGAGAGCCACGCCCATCACCTCCTCTCTAAGATTTGATTGGCTGGCTTTGGCAAGGCCGAGTACTCACCTGGCAGTTCCCTCATGAGGTAAAAAGGGCCACAGCCAGCTCCTGACTTGTCCGCGCCAGGAGGAGCCGTGGCCGCGGTGGGAGGCGGGGCCGTGCCGGGTCCCCCGCCCGCAGGAGGCGGTGGCGGGGGTGGAGGCTTTCCTGGTCCGAAGCCGAGTGCGGTTGGGGGCGGTGGTGGGTCAGCCTGAGCCCCAAACAGTGCCGTGAAATTCTCCATCGTACCCTCCGCCCCGGCGCTGTCTCCGTGTCTGCCGTTGGTAATTTTCATTGGACAATGCTTTCAAGGAGTACCCCCCCGCCCTTTCTCAAGGAGCCGCTTGTCATTGGATGCCTCAGGCACCGCCTACCTTTTTTCAACAACTACTTCCGTCGCCTTATGAGAACGTTCAGGAAGTGCTATTTAACCTTATTAGAGTCTTCTGCTAGCTCTGCTTGCTACAGTCCAATAAAATGACTTAGGCGGATAAAGCGACAACTAGACTAACCAATAAAATATTAAGTTCTTTTTTGGGTTCTGACCTACCACAGCGTTCAGAGAACTACATCCGGGTTTAGAGGCCGTACGTTTGCGATATAGCCCAATAGCAGTCGTTATGGTGGGGGAGGCGGGGCGAGACCTACGACGCCGGCGAGCAGTGGCCGTTACGGCCGAAAAGATGGCGGTCTTGGCACCTCTAATTGCTCTCGTGTATTCGGTGCCGCGACTTTCACGATGGCTCGCCCAACCTTACTACCTTCTGTCGGCCCTGCTCTCTGCTGCCTTCCTACTCGTGAGGAAACTGCCGCCGCTCTGCCACGGTCTGCCCACCCAACGCGAAGACCGTAACCCGTGTGACTTTGACTGGGTGAGCCTCCCGCGTGTTAGTACCCCGCGACCTTGACTGTCCCTGCCCTTGCAGGTGTATCTGGGAACCCTGGGGTTTACCTCTCTGAGGACACCTGAGGTTCCGAGCCTGTAGCGGACTTAGAGACTATTAAGTGCAGGGTCCGAACCATCATCGAGTCTAAACTTTGTGTTTAAGATGGGAAAACGGAACATGTTAGTCGTAGCCCATGCACAACGGCCCAACAGCTTTTGACTGTTGAGTCCAGGTTTCTTTCTGTTTCACCATTGAGACTAATTAACAGCCCTATCAAAACTGTACATACACGTGTATAACGTTTTACAGTGCCGCTCATTATGTAAAGCCTCCTGAGGAGCCAGTAAGGTAGACAAGGCAAGTAGTAATATTCCTGTTTCATTGGTGAAGAAATGGATCTCGGTATATTTAGGTGACTTGCCCCAGGTCATACAACTAATGAGTGCCTGGGACTTGAAACTACTCTTCTGGCCACACTACCTGCACAACACTGTCAGCCGCTTCTTAATTCAATAAACATTTCTAGAGTGTACACTCTAGGCACTCTGCTTGATCCTGAAGATGCGAAAGTGGATAAAATTTGGGGGCTACTGTAAAGGAATTGTAAAAAATACGTTGTAAAGAAATCTTTGGGATTTCTTTGGGAAGTGTCCCAAGCTCCTTGCTGTGCTTCCTTGGTATGGGTGGAGGGACTGCTCGGAACATAAACTTAAAGCACTTTCCCTTCTGCCATATAGCATGTAGGGGCCAAGGAAAAGCTTCCCCTTTGCTCTCTGAGGGTTTGTTGAAAAATCAACCGACAAAGGGCACATTAATAGGAGAAAGGCATAGAAATTTTATTTTAACGTGCATAGCATGAGGGAATTGCAGGAGAATGACCCAGTGGGGTACAGATGCTTATATACCCTCTTTCATAGGAATATGGGAGATGGGAAAATGTGGGTGATTTTAAGGTGGATCGTAAATGATTTTTAGGGTGATTCAGTGGCCTGGAGAACATACAGTGGCCTGGGACAATGACTGTTGGGCCTGCAGAGCAGACAATGGTTTCTGACAAAAATCTGTCCAGGTGTGTTGACAGGCTTCCATCTTTCTTCTTGTACTGAAGTAAGTTAATGAAAACTCAGGGAAGAGACCAGAAGTAATTGTTGTCTTCTTTGACAGGTCTGGACTTTAGGCAGATAAGGTAGTTATCAGAGTAAAGCTGCTTCCAGTATCTGCTGGTTTCCAGGGACCTTTAATTTAAAATGATTAGCATACAGGATGCCATATTTTGGGGTGTGAGTCCCTGGTCTTCTTTATTTCCTTTGTCTGAAACTTCCTTAGAAGTTTCACTATAAGCTGAGTTGGTGTCTGTGGAGAGAGAAATCGGGCTAGTAATTGAGCGGCAAAGGATCCCATTAAACCAGCCTCTCATTTTGGGGGATAGTCCAGTTCAATTAAATTGTTGTGTCTCATTTCAGAAGATGGCATTGTAGATGAGTTCTCAAAGCTAGGCCTCTGTATATGATGTAGGCAAACAGGTATTTAATAAGAGAGACATTTCTATGGAACAAGACAAACAAAGCTTAATATCTGGTATAGTCTATAAACTAGTTTCTTTAGAGTCTGGAGGGCAGTCAATTGGGAAGATTAATAGCAATCTATTTTCCTAGATTGTAGGTTGTGTGTAAAGTTTGTCCAAATATAAGCTTTTGTGGTGATTTTTTTTTCAAAGTCACGTTGACTAGCTTTAGCTGGTAAGGCCTTAGGAAAAAGGCAGGGTTTTTAGTTTTTTGGATTTTTTTTTGAGACAAGGTCTTGCTCTGTCATCCAAGCTGGAGTGCAGTGATGTGATCATGGCTCACTGTAGTCTTAACCTCCTGGGCAAAGCCATCCTGCCACCTCAGCTTTCCAGGTAGCTGGAACCAAAGGCATGCACTACACACCTGGCTAATTTTTAAAAATTTTTTTTCAAGGTGGGGTCTCTTGATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGG
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Task1_train_15845
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This mutation is located in gene FAM111B (FAM111 trypsin like peptidase B) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
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AAAATCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCT
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AAAATCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAGGAAGTTTCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCT
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Task1_train_15846
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Here is a genetic alteration in FAM111B (FAM111 trypsin like peptidase B) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
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TCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCTTCCG
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TCAAAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAAGAAATTTCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCTTCCG
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Task1_train_15847
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This variant affects gene FAM111B (FAM111 trypsin like peptidase B) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hereditary sclerosing poikiloderma with tendon and pulmonary involvement
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AAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAAGAAGTTTCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCTTCCGCTC
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AAGTACTACTTTTAAGAATCAGAAAACAAAATCAAAGTATACAGAGAAAAAAAATTAAAAATTAAAATAAAGTGTAGAATGAGTATCTAAATTGATAGAATAGTGATTGATTTTTTCTCCATTATTCGTTAACCATTATATTATCTAATTTTTATTCATAATATCTATTAGTTCTATCATTAGAAAAATATAAAACATTATTAAAGGTGATTCTTGTTAACCTCTTTAATCTTTCCTTTTTAAGGATACTGTCATGAAGCAGACACATGCTGACACACCTGTTGATCATTGTCTATCTGGCATAAGAAAGTGTAGCAGCACCTTTAAGCTTAAAAGTGAAGTCAACAAGCATGAAACAGCCCTTGAAATGCAGAATCCAAATTTGAACAATAAAGAATGTTGTTTCACCTTTACGTTGAATGGAAACTCCAGAAAATTAGACCGTAGTGTGTTTACAGCATATGGTAAACCCAGCGAGAGTATCTACTCAGCCCTGAGTGCTAATGACTATTTCAGTGAAAGGATAAAGAATCAGTTTAATAAGAACATTATTGTTTATGAAGAAAAGACAATAGATGGACATATAAATTTAGGAATGCCTCTCAAGTGCCTGCCTAGTGATTCTCATTTTAAAATTACATTTGGTCAAAGAAAGAGTAGCAAAGAAGATGGACACATATTACGCCAATGTGAAAATCCAAACATGGAATGCATTCTTTTTCATGTTGTTGCTATAGGAAGGACAAGAAAGAAGATTGTTAAGATCAACGAACTTCATGAAAAAGGAAGTAAACTTTGTATTTATGCCTTGAAGGGTGAGACTATTGAAGGAGCCTTATGCAAGGATGGCCGTTTTCGGTCTGACATAGGTGAATTTGAATGGAAACTAAAGGAAGGTCATAAGAAAATTTATGGAAAACAGTCCATGGTGGATGAAGTATCTGGAAAAGTCTTAGAAATGGACATTTCAAAAAAAAAAGCATTACAACAGAAAGATATCCATAAAAAAATTAAACAGAATGAAAGTGCCACTGATGAAATTAATCACCAGAGTCTGATACAGTCTAAGAAAAAAGTCCACAAACCAAAGAAAGATGGAGAGACCAAAGATGTAGAACACAGCAGAGAGCAAATTCTCCCACCTCAGGATCTAAGCCATTATATTAAAGATAAAACTCGCCAGACAATTCCCAGGATTAGAAATTATTACTTTTGTAGTTTGCCCCGAAAATATAGGCAAATAAACTCACAAGTTAGACGGAGGCCGCATCTGGGTAGGCGGTATGCTATTAATCTGGATGTCCAAAAGGAGGCAATTAATCTCTTAAAGAATTATCAAACGTTGAATGAAGCCATAATGCATCAGTATCCGAATTTTAAAGAGGAGGCACAGTGGGTAAGAAAATATTTTCGGGAAGAACAAAAGAGAATGAATCTTTCACCAGCTAAGCAATTCAACATATATAAAAAGGACTTCGGAAAAATGACTGCAAATTCTGTTTCAGTTGCAACCTGCGAACAGCTTACATATTATAGCAAGTCAGTTGGGTTCATGCAATGGGACAATAATGGAAACACAGGTAATGCTACTTGCTTTGTCTTCAATGGTGGTTATATTTTCACCTGTCGACATGTTGTACATCTTATGGTGGGTAAAAACACACATCCAAGTTTGTGGCCAGATATAATTAGCAAATGTGCGAAGGTAACCTTCACTTATACAGAGTTCTGCCCTACTCCTGACAATTGGTTTTCCATTGAGCCATGGCTTAAAGTGTCCAATGAAAATCTAGATTATGCCATTTTAAAACTAAAAGAAAATGGAAATGCGTTTCCTCCAGGACTATGGCGACAGATTTCTCCTCAACCATCTACTGGTTTGATTTATTTAATTGGTCATCCTGAAGGCCAGATCAAGAAAATAGATGGTTGTACTGTGATTCCTCTAAACGAACGATTGAAAAAATATCCAAACGATTGTCAAGATGGGTTGGTAGATCTCTATGATACCACCAGTAATGTATACTGTATGTTTACCCAAAGAAGTTGCCTATCAGAGGTTTGGAACACACACACGCTTAGTTATGATACTTGTTTCTCTGATGGGTCCTCAGGCTCCCCAGTGTTTAATGCATCTGGCAAATTGGTTGCTTTGCATACCTTTGGGCTTTTTTATCAACGAGGATTTAATGTGCATGCCCTTATTGAATTTGGTTATTCTATGGATTCTATTCTTTGTGATATTAAAAAGACAAATGAGAGCTTGTATAAATCATTAAATGATGAGAAACTTGAGACCTACGATGAAGAGAAAGGTAAACAAGAGTCATCACTTCAAGATCATCAGATTGAACCCATGGAATGTTAGAAAAGAGATGCTGTCTTCAAGAAAATATGCCAATAATTCCTGGCAAAGATTTCATGACAAAGACACTTAAAGCAATTGCAACAAAAGTGAAAATTGGCAAATGAGACCTAATTAAATCTTCTGCACAGCAAAAGAAACTATCAACAGGGTAAACACACAACCTACGGAATGGGAGAAAATATTTGCAAACTATGCATACAGCAAAGATCTAATATTCAGAATCCATTAGGAACTTAAACAGATTAACAAGCAAAAAAAACAAGCAACCCCATTAAAAAGTGGGCAAAGGACATGAACAAACACTTTTCAAAAGAAGATATACACATGGCCAACAAGGATATGAAAAAATACCTGATATCACTAATCATTAGAGAAATGCAAATCAAAAAAATGCCATCACACTAATCAGAATGGCTGTTATTAAAATGCCAAAAAATTACAGATGCTGGCGAGGTTGCAGAGAAAGGGGAATGCTTATACACTGCTAGTGGGAAAATAAATTAGTTCAGCCATTGTGGAAAGCAGTTGGGTGATTTCTAAAAGAACTTAAAACAGCTACCATTCAAGCCAGCAATCTCATGACTGGGTATATGTCCAAAGGAATATAAATTGTTCTACCATAAAGACATGCACATATATGTTCACTGCAGCACTATTCACAATAGCAAAACATGAAATCAACCTAAATGCCCATCAATGGTAGACTGGATAAAGAAAATGTGACACATATACACCATAGCATACTACACAGCCATAAAAAAGTACAAGATCATGTGCTTTGCAGCAACATGGATGGAACTGAAGGTCATTATCCTAAGCGAACTAATGCAGGAACAGAAAGCCAAGTACCACATGTTCTCTCATAAGTGGAAGCTAAATATTGAGTACACATGGACACAAAGAAGAAAACAACAGATATGGGGCCTACTTGAGGGTGGAGGGTGGGAGGAGGGTGAAGACTGAAAAACTGCCTATGGGGTACTATGCTTATTACCTGGGTGATGAAATAATCTGAACACAAAACCCTGGTGACATGCAGTTTACCTATATAACAAAACTGCACATGGACTCTTAAACCTAAATAAAAGTTTAAAATATATATAATGCCAATAATTTAGAGTATTGGAGGCTGTTTCCTTTAATAAAATTTCCTACTTAGAAAACTTTTAGAGAATTATGTGGATGTGCAAAACATGTATTAGAGCTCAAATACTGATTTTGTTTATCTTGGCTTTTTCAAGCCTCACTTAAAGTGCTTAGCTCACTTTTACACTTAAAAATAATTTGTTATTTGTTTTTCTAAATGCCTAGGGTGGTACACCTTCATTACTGGCAAGGTGGTTTTTGTTCTCTGCCTAACTAGATAGTGGTAAATACACTTAAATATGGAAAAAATATGTATAGTTCCTCTACAACCCAAAATTATTTGGTAAACATAATTTATTTCCTTCCATGCCACCTGTGACATCAACCTCCATTGCAAATGGCCATAGAAAATTCCAATTTTTCAGTTCTTTCTTCTAATTCAGCAATAGCTAACTCTTTGGCAGATGAGAAGAGTAGCTTGCTCAGTCTCCATCCCCATCCTCTTATGTTCAGAGTCTAGAAAGCTAGAAGCTACATATTTCAGACTAATTTGCAAGTAAGATTCTGAATACAAATGAGATTCCTCCAAATAGATACTATTTGTAAGACAAAAGTAAAGTGGGGGTCCTCTTTCTTCCGCTC
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Task1_train_15848
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A genomic change on Chromosome 11 affects MPEG1 (macrophage expressed 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Immunodeficiency 77
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TCTGCTGGAAAAAAAAGTAGTTTGCATAATTGGTGTTAACTACTCTGTTTTGATTCTACAGAGTAAGTAATACTCAAATGTGGTCTTACTTTAACTTCTTGCCTTTGTTACCCCCAGAACCATGCAGACATTGAAATGTGGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAAGGACCCAGAACAATGAAGACTTATTGAAATGTGGTATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAGATGTTTGAGGTCACCCAGAGGAGATAACAGTCTGTCAACATAGAGCCCTCAAAGTTAAAAAGCAGTAGCCAGGCAAGACTTGTGTCTTTTCAGGGCTCTTCCAGGCTCTAAGAGTGTGAAATTCAGACAGGTTTTTAAAAATCAAAATAAAAGGAGAGTAGTTCTTACAGGCAGAAACTCTTAGAGCTCACAAATTGGAAACAACTGCAAACTTCAGAGTAAATTCATAGCTTCCAAATACAAATGTTCACATTGTCCCTCCGCTATTTTTACACAAATGCATTCAGGTGAAGACAGCAACACACATTGGGAAAGGACATCTGCTTCCTATTTTAGTCCCAGAATCACTTTTGCTTCTAGTCCCAACTGTTCCCTCTCCCCAATCCCAACCTTATCCATGTAACAGTATGAATTTCCTGGCCCAGAGACCTAAACAAGAAGTCACGAATATACCTACTTTTGGTTGCACTTGCCATTTCAATGCTTAGGAAAACAGAGTGGTCAGCAATGACCACACTGGAGATGAGAGAAACCATTTTCGGGGAGAGATTTAAGCTGGACTCTGCCCCTGCTCTTGGTAAGTGGTGTCTCCAGTTGCTGCAGTGCCTGGAACCAAACTCTGCCTTTCCTCAATTGCCTGATATGCTTTCTTCTTGAACTTCCGGGTGCCGTAGATGGCCAAGGTGATAACAACAGCCAGAATGGTGGTGACCCCCACTGTGACCCCAGCTGCAGCCCCTCCTGACAGACCACCACCATCCCCATGGATGACATTCATGGCCCTCCGCAGCTCTATCGGTTCTCCCAGCCTCCACTGGTGGGTCTGGGAGTCTTTAATCCAGGATCTCGCATTCTCAGAATTGGTCACTATGACAGTATTGGTGGCAGCCTGACTCATGAGGGGTGGCCGGGTGAAAGGTGGGAGCCTGGCAGGGGGCAGGGACCCTCCTGTGAAGAGCCCGGATTTGACGCAATAGGACACTTGGCATCCATCGCTGATGAGGGCTGGGTGCTGGCTGAAGCCCCCGGGGCACTTTTTCAGAGACGGTGCCCCTAAATCTCTGGATATAGCAGGATCTACCAGGGGGTTCCCAACTGTGCAGCTAAAGAACCCGCCAAAGGGGACCGCAAACCTGCTTCCCAACTCATAGTCCTGAGAAACACATACCTTGAGGTTTTCAAAGAGTCTCAGTGGAAAGTAGCCGGCTGGGCATGACTGTGCATTTGTCATGGGGTTTATGCTCTTGCTGCTGAAGAGGCCCCCAAAAAGCAGTCCTGAGTTTTCAGGTACTTGGCTGCTGGCCACACACCAAAAAGCCCTAAATTCAGCTTTTGCCACCTGGAACACATCTTCACACACGGTCTTGCAGAAGACGAGGAGAGTGCACTTTCGATGACACTCCAGGTGGTTGTAACCCTCCTCGTGGATCTGGGATAACAGGTGCACCGGGGAGTAGCCAGAGGGGCAGGAGAAATCACCAGTGAGTGGATTCTTCTGCTCCAACTTTTGGCAGAGGAGGACATCCCTATTCCCTGAGAGCTGAGTGCATTCCTGATAAACCCCACCGAAAGAGAAGTTGGTCATTTTCCCCTCGCAGGAGCCATCATCCGTGTTGGCCTGAAAATTGAAGTTGGGAGAATTGAGATCTGTGCAGCCAGGGTAGGTGTTGAATGTATAATAGCGCTTCACAGCAGTTTCCACTGTCTTTGACACCTTCTTCACCAGGGGGCCTGGCAAGTCAGGTAGCATGTTGGGGTTGATGAAGAAATGCAGCGGCAGGCCAGAGCGGTCGATGGCCACCAGGTGGTTGGTGATACCCTGCTGCCAGGCCTGGAGGGTGATGCCTGGGTAAAAAGGAACCCCTCCAATGCTCTGCACCCTGGAGTTGGTTCGGTTTGAGAGGTAGCTCTTGGTGAGGACATTCTGCGAGGTATAGTTTTCCTCAAATTTGAAGTTCACGGTGTTTTGAAAGGCAAGTCCAGCAGAGGCGGTCACGGCACTACGACTGCTCTGGCTGTCTTGGAGGAAGGAGGCCCTGAGGTGGTCCTCCTGAATAAGAGCAGCCCCAGCGTCGACACTGGTGGTGACGTGGGTGCCATAGTTGAGCACCAGGAGTTCTGCCAGGTAGGTGGCCATCCTCGTCTGGTTGTTCTCTAGACGGTCAGAGATGTCAAGGAGTTCCTTCCTAAAACCTGAGCTTAGCTCTAAAGTTGGGTTGATTTTGACTGTGTAGACGAGGTTTCTTACCTGAACTCGGGTAGTTATAGCTTGGTCCTTCACTTGGAGGGTCTTCATCCTCTGGAACTCAGTGGAAAACTTGCCATTGACTTTGGAAAAAAGAGAGAGTTCTGTGTTGATGGAGTAGGAGGTGCTACTCTGGTAATTTGCCCAGGATTCCAGGATTTCTGAGTTCATCTCCAGGTTGCTCTGTTTCTGGGGAATGGTGAAGATTTCATCAGGGATGATATACTGTCCATCCTCTGTTGTCCTGCAGTTGGAGTAAGTCAATTCCATAACTCGTCCCATGTCCACATTCCGCAGATTGTCCCAGCCCCCTCCAGGTAGGACTTCCAGGACAGGTAGTTTCAAGGCATTCTTGCATTTTTGAACTCCAACTTCGTCCATCTCTCCCGAAGGCTTGCCTGATTTAGCCCATGCTGCCGCTGCCCAGAAGAGGATGGTGGCCCTGAAGTTGTTCATGGCTCAGACAGCCCCAGCCACTCACCAGCCCTACACAGCGGCCAGCAAGCTTTGGGCAAACTAAGATGGAGAAAACAGAAGCAGATGATGAAGCGGAAAACTCATGAGTTCTCTAAAAGCTACAAGTTCCTCTTTAAGCTAATTTAATGACAAAATGGGGAAACGAGAGTTGGTTGGAATATTAAAGACCATCAGGTCTTTGAAGAATTTATGCCGTACTAAACATGCAAACACACCCCTACATGCCTAACAGGTAGCTATCCTAATTTTTCCCCCAGCTCTGGCTGGTTACTCTGCTGCAGGGGTGTGCACTTAGAAAAAAATCCCGACCCCACACCCTACTGCTTCCTCCACCAGAAAGTTTGGCTTTGCTTTTTGCTCATTCTCTTGGACTTGATGTTTCATATTTTCCCTGACTGCTGTCTCTTGGGACTCCATTATCAGTTTTCTTTTACTATAAATGCAGAGGCAAATGACCACACCACCCTTACTGAAACACCCTGGCTCCACCATACCTATGCAAGCTGTTAGTCAAGGCCAACCCTGGGTTTCCTCTTTGCCTGAGGGTGGAGGCTGTTTCCACAAAAGAAAGGAGTGAAACTCTTGGACACTTGTCCTGTGGGTTTCACTGTTATGAACCATAGCAATTCTGTCTTTGGGGATGGCATTGTCTGGAGCACAGCTGACAGGGCCTGAAGAGGATTCGGTTGCAATATGCTGGGAAACCCCAATTTGCATTGTCCTAAGCATTCAAAGCGAGGGCAAGGAACTCCTACACTGTGTTGTTTTCATTCAGATAGAAATGTTCAAGACAAAACCACACTATTATCTAGAT
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TCTGCTGGAAAAAAAAGTAGTTTGCATAATTGGTGTTAACTACTCTGTTTTGATTCTACAGAGTAAGTAATACTCAAATGTGGTCTTACTTTAACTTCTTGCCTTTGTTACCCCCAGAACCATGCAGACATTGAAATGTGGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAAGGACCCAGAACAATGAAGACTTATTGAAATGTGGTATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAGATGTTTGAGGTCACCCAGAGGAGATAACAGTCTGTCAACATAGAGCCCTCAAAGTTAAAAAGCAGTAGCCAGGCAAGACTTGTGTCTTTTCAGGGCTCTTCCAGGCTCTAAGAGTGTGAAATTCAGACAGGTTTTTAAAAATCAAAATAAAAGGAGAGTAGTTCTTACAGGCAGAAACTCTTAGAGCTCACAAATTGGAAACAACTGCAAACTTCAGAGTAAATTCATAGCTTCCAAATACAAATGTTCACATTGTCCCTCCGCTATTTTTACACAAATGCATTCAGGTGAAGACAGCAACACACATTGGGAAAGGACATCTGCTTCCTATTTTAGTCCCAGAATCACTTTTGCTTCTAGTCCCAACTGTTCCCTCTCCCCAATCCCAACCTTATCCATGTAACAGTATGAATTTCCTGGCCCAGAGACCTAAACAAGAAGTCACGAATATACCTACTTTTGGTTGCACTTGCCATTTCAATGCTTAGGAAAACAGAGTGGTCAGCAATGACCACACTGGAGATGAGAGAAACCATTTTCGGGGAGAGATTTAAGCTGGACTCTGCCCCTGCTCTTGGTAAGTGGTGTCTCCAGTTGCTGCAGTGCCTGGAACCAAACTCTGCCTTTCCTCAATTGCCTGATATGCTTTCTTCTTGAACTTCCGGGTGCCGTAGATGGCCAAGGTGATAACAACAGCCAGAATGGTGGTGACCCCCACTGTGACCCCAGCTGCAGCCCCTCCTGACAGACCACCACCATCCCCATGGATGACATTCATGGCCCTCCGCAGCTCTATCGGTTCTCCCAGCCTCCACTGGTGGGTCTGGGAGTCTTTAATCCAGGATCTCGCATTCTCAGAATTGGTCACTATGACAGTATTGGTGGCAGCCTGACTCATGAGGGGTGGCCGGGTGAAAGGTGGGAGCCTGGCAGGGGGCAGGGACCCTCCTGTGAAGAGCCCGGATTTGACGCAATAGGACACTTGGCATCCATCGCTGATGAGGGCTGGGTGCTGGCTGAAGCCCCCGGGGCACTTTTTCAGAGACGGTGCCCCTAAATCTCTGGATATAGCAGGATCTACCAGGGGGTTCCCAACTGTGCAGCTAAAGAACCCGCCAAAGGGGACCGCAAACCTGCTTCCCAACTCATAGTCCTGAGAAACACATACCTTGAGGTTTTCAAAGAGTCTCAGTGGAAAGTAGCCGGCTGGGCATGACTGTGCATTTGTCATGGGGTTTATGCTCTTGCTGCTGAAGAGGCCCCCAAAAAGCAGTCCTGAGTTTTCAGGTACTTGGCTGCTGGCCACACACCAAAAAGCCCTAAATTCAGCTTTTGCCACCTGGAACACATCTTCACACACGGTCTTGCAGAAGACGAGGAGAGTGCACTTTCGATGACACTCCAGGTGGTTGTAACCCTCCTCGTGGATCTGGGATAACAGGTGCACCGGGGAGTAGCCAGAGGGGCAGGAGAAATCACCAGTGAGTGTATTCTTCTGCTCCAACTTTTGGCAGAGGAGGACATCCCTATTCCCTGAGAGCTGAGTGCATTCCTGATAAACCCCACCGAAAGAGAAGTTGGTCATTTTCCCCTCGCAGGAGCCATCATCCGTGTTGGCCTGAAAATTGAAGTTGGGAGAATTGAGATCTGTGCAGCCAGGGTAGGTGTTGAATGTATAATAGCGCTTCACAGCAGTTTCCACTGTCTTTGACACCTTCTTCACCAGGGGGCCTGGCAAGTCAGGTAGCATGTTGGGGTTGATGAAGAAATGCAGCGGCAGGCCAGAGCGGTCGATGGCCACCAGGTGGTTGGTGATACCCTGCTGCCAGGCCTGGAGGGTGATGCCTGGGTAAAAAGGAACCCCTCCAATGCTCTGCACCCTGGAGTTGGTTCGGTTTGAGAGGTAGCTCTTGGTGAGGACATTCTGCGAGGTATAGTTTTCCTCAAATTTGAAGTTCACGGTGTTTTGAAAGGCAAGTCCAGCAGAGGCGGTCACGGCACTACGACTGCTCTGGCTGTCTTGGAGGAAGGAGGCCCTGAGGTGGTCCTCCTGAATAAGAGCAGCCCCAGCGTCGACACTGGTGGTGACGTGGGTGCCATAGTTGAGCACCAGGAGTTCTGCCAGGTAGGTGGCCATCCTCGTCTGGTTGTTCTCTAGACGGTCAGAGATGTCAAGGAGTTCCTTCCTAAAACCTGAGCTTAGCTCTAAAGTTGGGTTGATTTTGACTGTGTAGACGAGGTTTCTTACCTGAACTCGGGTAGTTATAGCTTGGTCCTTCACTTGGAGGGTCTTCATCCTCTGGAACTCAGTGGAAAACTTGCCATTGACTTTGGAAAAAAGAGAGAGTTCTGTGTTGATGGAGTAGGAGGTGCTACTCTGGTAATTTGCCCAGGATTCCAGGATTTCTGAGTTCATCTCCAGGTTGCTCTGTTTCTGGGGAATGGTGAAGATTTCATCAGGGATGATATACTGTCCATCCTCTGTTGTCCTGCAGTTGGAGTAAGTCAATTCCATAACTCGTCCCATGTCCACATTCCGCAGATTGTCCCAGCCCCCTCCAGGTAGGACTTCCAGGACAGGTAGTTTCAAGGCATTCTTGCATTTTTGAACTCCAACTTCGTCCATCTCTCCCGAAGGCTTGCCTGATTTAGCCCATGCTGCCGCTGCCCAGAAGAGGATGGTGGCCCTGAAGTTGTTCATGGCTCAGACAGCCCCAGCCACTCACCAGCCCTACACAGCGGCCAGCAAGCTTTGGGCAAACTAAGATGGAGAAAACAGAAGCAGATGATGAAGCGGAAAACTCATGAGTTCTCTAAAAGCTACAAGTTCCTCTTTAAGCTAATTTAATGACAAAATGGGGAAACGAGAGTTGGTTGGAATATTAAAGACCATCAGGTCTTTGAAGAATTTATGCCGTACTAAACATGCAAACACACCCCTACATGCCTAACAGGTAGCTATCCTAATTTTTCCCCCAGCTCTGGCTGGTTACTCTGCTGCAGGGGTGTGCACTTAGAAAAAAATCCCGACCCCACACCCTACTGCTTCCTCCACCAGAAAGTTTGGCTTTGCTTTTTGCTCATTCTCTTGGACTTGATGTTTCATATTTTCCCTGACTGCTGTCTCTTGGGACTCCATTATCAGTTTTCTTTTACTATAAATGCAGAGGCAAATGACCACACCACCCTTACTGAAACACCCTGGCTCCACCATACCTATGCAAGCTGTTAGTCAAGGCCAACCCTGGGTTTCCTCTTTGCCTGAGGGTGGAGGCTGTTTCCACAAAAGAAAGGAGTGAAACTCTTGGACACTTGTCCTGTGGGTTTCACTGTTATGAACCATAGCAATTCTGTCTTTGGGGATGGCATTGTCTGGAGCACAGCTGACAGGGCCTGAAGAGGATTCGGTTGCAATATGCTGGGAAACCCCAATTTGCATTGTCCTAAGCATTCAAAGCGAGGGCAAGGAACTCCTACACTGTGTTGTTTTCATTCAGATAGAAATGTTCAAGACAAAACCACACTATTATCTAGAT
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Task1_train_15849
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The gene MPEG1 (macrophage expressed 1), on Chromosome 11, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Primary ciliary dyskinesia 3
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TATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAGATGTTTGAGGTCACCCAGAGGAGATAACAGTCTGTCAACATAGAGCCCTCAAAGTTAAAAAGCAGTAGCCAGGCAAGACTTGTGTCTTTTCAGGGCTCTTCCAGGCTCTAAGAGTGTGAAATTCAGACAGGTTTTTAAAAATCAAAATAAAAGGAGAGTAGTTCTTACAGGCAGAAACTCTTAGAGCTCACAAATTGGAAACAACTGCAAACTTCAGAGTAAATTCATAGCTTCCAAATACAAATGTTCACATTGTCCCTCCGCTATTTTTACACAAATGCATTCAGGTGAAGACAGCAACACACATTGGGAAAGGACATCTGCTTCCTATTTTAGTCCCAGAATCACTTTTGCTTCTAGTCCCAACTGTTCCCTCTCCCCAATCCCAACCTTATCCATGTAACAGTATGAATTTCCTGGCCCAGAGACCTAAACAAGAAGTCACGAATATACCTACTTTTGGTTGCACTTGCCATTTCAATGCTTAGGAAAACAGAGTGGTCAGCAATGACCACACTGGAGATGAGAGAAACCATTTTCGGGGAGAGATTTAAGCTGGACTCTGCCCCTGCTCTTGGTAAGTGGTGTCTCCAGTTGCTGCAGTGCCTGGAACCAAACTCTGCCTTTCCTCAATTGCCTGATATGCTTTCTTCTTGAACTTCCGGGTGCCGTAGATGGCCAAGGTGATAACAACAGCCAGAATGGTGGTGACCCCCACTGTGACCCCAGCTGCAGCCCCTCCTGACAGACCACCACCATCCCCATGGATGACATTCATGGCCCTCCGCAGCTCTATCGGTTCTCCCAGCCTCCACTGGTGGGTCTGGGAGTCTTTAATCCAGGATCTCGCATTCTCAGAATTGGTCACTATGACAGTATTGGTGGCAGCCTGACTCATGAGGGGTGGCCGGGTGAAAGGTGGGAGCCTGGCAGGGGGCAGGGACCCTCCTGTGAAGAGCCCGGATTTGACGCAATAGGACACTTGGCATCCATCGCTGATGAGGGCTGGGTGCTGGCTGAAGCCCCCGGGGCACTTTTTCAGAGACGGTGCCCCTAAATCTCTGGATATAGCAGGATCTACCAGGGGGTTCCCAACTGTGCAGCTAAAGAACCCGCCAAAGGGGACCGCAAACCTGCTTCCCAACTCATAGTCCTGAGAAACACATACCTTGAGGTTTTCAAAGAGTCTCAGTGGAAAGTAGCCGGCTGGGCATGACTGTGCATTTGTCATGGGGTTTATGCTCTTGCTGCTGAAGAGGCCCCCAAAAAGCAGTCCTGAGTTTTCAGGTACTTGGCTGCTGGCCACACACCAAAAAGCCCTAAATTCAGCTTTTGCCACCTGGAACACATCTTCACACACGGTCTTGCAGAAGACGAGGAGAGTGCACTTTCGATGACACTCCAGGTGGTTGTAACCCTCCTCGTGGATCTGGGATAACAGGTGCACCGGGGAGTAGCCAGAGGGGCAGGAGAAATCACCAGTGAGTGGATTCTTCTGCTCCAACTTTTGGCAGAGGAGGACATCCCTATTCCCTGAGAGCTGAGTGCATTCCTGATAAACCCCACCGAAAGAGAAGTTGGTCATTTTCCCCTCGCAGGAGCCATCATCCGTGTTGGCCTGAAAATTGAAGTTGGGAGAATTGAGATCTGTGCAGCCAGGGTAGGTGTTGAATGTATAATAGCGCTTCACAGCAGTTTCCACTGTCTTTGACACCTTCTTCACCAGGGGGCCTGGCAAGTCAGGTAGCATGTTGGGGTTGATGAAGAAATGCAGCGGCAGGCCAGAGCGGTCGATGGCCACCAGGTGGTTGGTGATACCCTGCTGCCAGGCCTGGAGGGTGATGCCTGGGTAAAAAGGAACCCCTCCAATGCTCTGCACCCTGGAGTTGGTTCGGTTTGAGAGGTAGCTCTTGGTGAGGACATTCTGCGAGGTATAGTTTTCCTCAAATTTGAAGTTCACGGTGTTTTGAAAGGCAAGTCCAGCAGAGGCGGTCACGGCACTACGACTGCTCTGGCTGTCTTGGAGGAAGGAGGCCCTGAGGTGGTCCTCCTGAATAAGAGCAGCCCCAGCGTCGACACTGGTGGTGACGTGGGTGCCATAGTTGAGCACCAGGAGTTCTGCCAGGTAGGTGGCCATCCTCGTCTGGTTGTTCTCTAGACGGTCAGAGATGTCAAGGAGTTCCTTCCTAAAACCTGAGCTTAGCTCTAAAGTTGGGTTGATTTTGACTGTGTAGACGAGGTTTCTTACCTGAACTCGGGTAGTTATAGCTTGGTCCTTCACTTGGAGGGTCTTCATCCTCTGGAACTCAGTGGAAAACTTGCCATTGACTTTGGAAAAAAGAGAGAGTTCTGTGTTGATGGAGTAGGAGGTGCTACTCTGGTAATTTGCCCAGGATTCCAGGATTTCTGAGTTCATCTCCAGGTTGCTCTGTTTCTGGGGAATGGTGAAGATTTCATCAGGGATGATATACTGTCCATCCTCTGTTGTCCTGCAGTTGGAGTAAGTCAATTCCATAACTCGTCCCATGTCCACATTCCGCAGATTGTCCCAGCCCCCTCCAGGTAGGACTTCCAGGACAGGTAGTTTCAAGGCATTCTTGCATTTTTGAACTCCAACTTCGTCCATCTCTCCCGAAGGCTTGCCTGATTTAGCCCATGCTGCCGCTGCCCAGAAGAGGATGGTGGCCCTGAAGTTGTTCATGGCTCAGACAGCCCCAGCCACTCACCAGCCCTACACAGCGGCCAGCAAGCTTTGGGCAAACTAAGATGGAGAAAACAGAAGCAGATGATGAAGCGGAAAACTCATGAGTTCTCTAAAAGCTACAAGTTCCTCTTTAAGCTAATTTAATGACAAAATGGGGAAACGAGAGTTGGTTGGAATATTAAAGACCATCAGGTCTTTGAAGAATTTATGCCGTACTAAACATGCAAACACACCCCTACATGCCTAACAGGTAGCTATCCTAATTTTTCCCCCAGCTCTGGCTGGTTACTCTGCTGCAGGGGTGTGCACTTAGAAAAAAATCCCGACCCCACACCCTACTGCTTCCTCCACCAGAAAGTTTGGCTTTGCTTTTTGCTCATTCTCTTGGACTTGATGTTTCATATTTTCCCTGACTGCTGTCTCTTGGGACTCCATTATCAGTTTTCTTTTACTATAAATGCAGAGGCAAATGACCACACCACCCTTACTGAAACACCCTGGCTCCACCATACCTATGCAAGCTGTTAGTCAAGGCCAACCCTGGGTTTCCTCTTTGCCTGAGGGTGGAGGCTGTTTCCACAAAAGAAAGGAGTGAAACTCTTGGACACTTGTCCTGTGGGTTTCACTGTTATGAACCATAGCAATTCTGTCTTTGGGGATGGCATTGTCTGGAGCACAGCTGACAGGGCCTGAAGAGGATTCGGTTGCAATATGCTGGGAAACCCCAATTTGCATTGTCCTAAGCATTCAAAGCGAGGGCAAGGAACTCCTACACTGTGTTGTTTTCATTCAGATAGAAATGTTCAAGACAAAACCACACTATTATCTAGATTTTGATTTATCAACAGCAGACAGGGGCCAAGGAACATATGTGTATGTGTACACACATTTATATATCCTCTGTGTGTGTGCATTTTGTATGAAGTTGGTACCTGTTATACCTTTAATTTTTTGTTCCATTGCTAAGTGTGTGTAATCAGTTTAGGTGGATAAAAAAGAATGTGGCTCTTCACTACCCAATATTTTTTCTAAAAGCAAAAATTCATTTGCTATATCATTAGAAGAATATAAT
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TATGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCATATAACAGGAGGACAGGAAAGGTAATGACCATCCATGGAAGATGAAGGGGTAGTACTTAGCACCAGAATCTTTTCCAGTTTTTACCCATCTTTCATTACTCCTTGTCTCCAAATCATCCCTTCCTTAATAACTTAAAATAACTTAAAATATTTTCTGAGGACTTGATGACACCAGTCAGAAGTCCAAGAGTGGTCTGGTATAAGGGAGTGTTCATCAAGGGGCAGCTGGAAAAAGTGGAATTGGCACAGGCAACATCTTTCTTTTCAGATGTTTGAGGTCACCCAGAGGAGATAACAGTCTGTCAACATAGAGCCCTCAAAGTTAAAAAGCAGTAGCCAGGCAAGACTTGTGTCTTTTCAGGGCTCTTCCAGGCTCTAAGAGTGTGAAATTCAGACAGGTTTTTAAAAATCAAAATAAAAGGAGAGTAGTTCTTACAGGCAGAAACTCTTAGAGCTCACAAATTGGAAACAACTGCAAACTTCAGAGTAAATTCATAGCTTCCAAATACAAATGTTCACATTGTCCCTCCGCTATTTTTACACAAATGCATTCAGGTGAAGACAGCAACACACATTGGGAAAGGACATCTGCTTCCTATTTTAGTCCCAGAATCACTTTTGCTTCTAGTCCCAACTGTTCCCTCTCCCCAATCCCAACCTTATCCATGTAACAGTATGAATTTCCTGGCCCAGAGACCTAAACAAGAAGTCACGAATATACCTACTTTTGGTTGCACTTGCCATTTCAATGCTTAGGAAAACAGAGTGGTCAGCAATGACCACACTGGAGATGAGAGAAACCATTTTCGGGGAGAGATTTAAGCTGGACTCTGCCCCTGCTCTTGGTAAGTGGTGTCTCCAGTTGCTGCAGTGCCTGGAACCAAACTCTGCCTTTCCTCAATTGCCTGATATGCTTTCTTCTTGAACTTCCGGGTGCCGTAGATGGCCAAGGTGATAACAACAGCCAGAATGGTGGTGACCCCCACTGTGACCCCAGCTGCAGCCCCTCCTGACAGACCACCACCATCCCCATGGATGACATTCATGGCCCTCCGCAGCTCTATCGGTTCTCCCAGCCTCCACTGGTGGGTCTGGGAGTCTTTAATCCAGGATCTCGCATTCTCAGAATTGGTCACTATGACAGTATTGGTGGCAGCCTGACTCATGAGGGGTGGCCGGGTGAAAGGTGGGAGCCTGGCAGGGGGCAGGGACCCTCCTGTGAAGAGCCCGGATTTGACGCAATAGGACACTTGGCATCCATCGCTGATGAGGGCTGGGTGCTGGCTGAAGCCCCCGGGGCACTTTTTCAGAGACGGTGCCCCTAAATCTCTGGATATAGCAGGATCTACCAGGGGGTTCCCAACTGTGCAGCTAAAGAACCCGCCAAAGGGGACCGCAAACCTGCTTCCCAACTCATAGTCCTGAGAAACACATACCTTGAGGTTTTCAAAGAGTCTCAGTGGAAAGTAGCCGGCTGGGCATGACTGTGCATTTGTCATGGGGTTTATGCTCTTGCTGCTGAAGAGGCCCCCAAAAAGCAGTCCTGAGTTTTCAGGTACTTGGCTGCTGGCCACACACCAAAAAGCCCTAAATTCAGCTTTTGCCACCTGGAACACATCTTCACACACGGTCTTGCAGAAGACGAGGAGAGTGCACTTTCGATGACACTCCAGGTGGTTGTAACCCTCCTCGTGGATCTGGGATAACAGGTGCACCGGGGAGTAGCCAGAGGGGCAGGAGAAATCACCAGTGAGTGGATTCTTCTGCTCCAACTTTTGGCAGAGGAGGACATCCCTATTCCCTGAGAGCTGAGTGCATTCCTGATAAACCCCACCGAAAGAGAAGTTGGTCATTTTCCCCTCGCAGGAGCCATCATCCGTGTTGGCCTGAAAATTGAAGTTGGGAGAATTGAGATCTGTGCAGCCAGGGTAGGTGTTGAATGTATAATAGCGCTTCACAGCAGTTTCCACTGTCTTTGACACCTTCTTCACCAGGGAGCCTGGCAAGTCAGGTAGCATGTTGGGGTTGATGAAGAAATGCAGCGGCAGGCCAGAGCGGTCGATGGCCACCAGGTGGTTGGTGATACCCTGCTGCCAGGCCTGGAGGGTGATGCCTGGGTAAAAAGGAACCCCTCCAATGCTCTGCACCCTGGAGTTGGTTCGGTTTGAGAGGTAGCTCTTGGTGAGGACATTCTGCGAGGTATAGTTTTCCTCAAATTTGAAGTTCACGGTGTTTTGAAAGGCAAGTCCAGCAGAGGCGGTCACGGCACTACGACTGCTCTGGCTGTCTTGGAGGAAGGAGGCCCTGAGGTGGTCCTCCTGAATAAGAGCAGCCCCAGCGTCGACACTGGTGGTGACGTGGGTGCCATAGTTGAGCACCAGGAGTTCTGCCAGGTAGGTGGCCATCCTCGTCTGGTTGTTCTCTAGACGGTCAGAGATGTCAAGGAGTTCCTTCCTAAAACCTGAGCTTAGCTCTAAAGTTGGGTTGATTTTGACTGTGTAGACGAGGTTTCTTACCTGAACTCGGGTAGTTATAGCTTGGTCCTTCACTTGGAGGGTCTTCATCCTCTGGAACTCAGTGGAAAACTTGCCATTGACTTTGGAAAAAAGAGAGAGTTCTGTGTTGATGGAGTAGGAGGTGCTACTCTGGTAATTTGCCCAGGATTCCAGGATTTCTGAGTTCATCTCCAGGTTGCTCTGTTTCTGGGGAATGGTGAAGATTTCATCAGGGATGATATACTGTCCATCCTCTGTTGTCCTGCAGTTGGAGTAAGTCAATTCCATAACTCGTCCCATGTCCACATTCCGCAGATTGTCCCAGCCCCCTCCAGGTAGGACTTCCAGGACAGGTAGTTTCAAGGCATTCTTGCATTTTTGAACTCCAACTTCGTCCATCTCTCCCGAAGGCTTGCCTGATTTAGCCCATGCTGCCGCTGCCCAGAAGAGGATGGTGGCCCTGAAGTTGTTCATGGCTCAGACAGCCCCAGCCACTCACCAGCCCTACACAGCGGCCAGCAAGCTTTGGGCAAACTAAGATGGAGAAAACAGAAGCAGATGATGAAGCGGAAAACTCATGAGTTCTCTAAAAGCTACAAGTTCCTCTTTAAGCTAATTTAATGACAAAATGGGGAAACGAGAGTTGGTTGGAATATTAAAGACCATCAGGTCTTTGAAGAATTTATGCCGTACTAAACATGCAAACACACCCCTACATGCCTAACAGGTAGCTATCCTAATTTTTCCCCCAGCTCTGGCTGGTTACTCTGCTGCAGGGGTGTGCACTTAGAAAAAAATCCCGACCCCACACCCTACTGCTTCCTCCACCAGAAAGTTTGGCTTTGCTTTTTGCTCATTCTCTTGGACTTGATGTTTCATATTTTCCCTGACTGCTGTCTCTTGGGACTCCATTATCAGTTTTCTTTTACTATAAATGCAGAGGCAAATGACCACACCACCCTTACTGAAACACCCTGGCTCCACCATACCTATGCAAGCTGTTAGTCAAGGCCAACCCTGGGTTTCCTCTTTGCCTGAGGGTGGAGGCTGTTTCCACAAAAGAAAGGAGTGAAACTCTTGGACACTTGTCCTGTGGGTTTCACTGTTATGAACCATAGCAATTCTGTCTTTGGGGATGGCATTGTCTGGAGCACAGCTGACAGGGCCTGAAGAGGATTCGGTTGCAATATGCTGGGAAACCCCAATTTGCATTGTCCTAAGCATTCAAAGCGAGGGCAAGGAACTCCTACACTGTGTTGTTTTCATTCAGATAGAAATGTTCAAGACAAAACCACACTATTATCTAGATTTTGATTTATCAACAGCAGACAGGGGCCAAGGAACATATGTGTATGTGTACACACATTTATATATCCTCTGTGTGTGTGCATTTTGTATGAAGTTGGTACCTGTTATACCTTTAATTTTTTGTTCCATTGCTAAGTGTGTGTAATCAGTTTAGGTGGATAAAAAAGAATGTGGCTCTTCACTACCCAATATTTTTTCTAAAAGCAAAAATTCATTTGCTATATCATTAGAAGAATATAAT
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Task1_train_15850
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The following genetic variant occurs in ZP1 (zona pellucida glycoprotein 1) on Chromosome 11. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Female infertility due to zona pellucida defect
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CCCCCACCCTCTTGCACGTGGACTTCAGGCTTCATGTGCGCTGTGTCTTCAACGCCAGTGACTTCCTGCCCATTCAGGCATCCATTTTCCCACCCCCATCGCCTGCTCCTATGACCCAGCCCGGCCCCCTGCGGCTTGAGCTGCGGATTGCCAAAGGTATGCTATGCTATCCCTGCTCTCTTCTGGCCCCCACTTCCCTGATGCACAGCCCGCCCTGGCTCATGAGTCACTCTCCCTGCAGACGAGACCTTCAGCTCGTACTATGGGGAGGATGACTATCCCATCGTGAGGCTGCTCCGAGAACCAGTCCATGTGGAGGTCCGGCTTCTGCAGAGGACAGACCCCAACCTGGTCCTGCTGCTGCACCAGTGCTGGGGCGCTCCCAGTGCCAACCCCTTCCAGCAGCCCCAGTGGCCCATCCTGTCAGACGGGTGAGTGCCCCCACACTCCCCCCACCTGCTCTGCCTCCTGTAAACAGCCTCTCTGACTTCTCTTCTCAGATGCCCTTTCAAGGGCGACAGCTACAGAACCCAAATGGTAGCCTTGGACGGGGCCACACCTTTCCAGTCGCACTACCAGCGATTCACTGTTGCTACCTTCGCCCTCCTGGACTCAGGCTCCCAGAGAGCCCTCAGAGGACTGGTAAGAAGCCCCGGCTGCCGCATGCCTGGTCCCATCTGTTAAGTGGGAGGAGCTGGTCGCCAAATCCCTCTGGCACCCTGTGAACTTATATGGACAAAGTTCTGGGATGGGGCTTGGCGTCTACCAGGTGTCATGGAAAGCAGCGGGCTTCGGGTCAGCAAGAAGGTAACCCATAACCACCACCAGGAGGAAGGAAAATGCTGCCTGTGCTGCAATCAGCCCTAAATCTGAACTCTGGTCATGGTGTTCTAGGGTGGCCTCACCTCACTTCTGATTCCAGAAATGATAATGTGTTCCATGTAATTCTTTGAATTTTCTTTAACTCAGCAACTTCTCCAGAAGGTAAAGGTAGATAAACTCAGGGTATATTTAGGTCTCCTATGTAATATACAGATGGCCTCAGAGGTGACAGATGCACTTGTCCCATTGAACAACGTATCTTTCACATCACATACCCAAATCTCTAGATTCTTAAATCACTGCCTGTTATTATGTCAGATGTAGACTGATTTCACTTGGAAGCACTGGTTAGTGTGGCTTCGTTCTCATCTCTGCTGTGTGCTGCCCATGAGTGGGGCCTCCTGGGTGCTGGGTTGGGTCAGCTCCTCCTGCTTCTGGTCCCGTAGGGCACTGCCCCTGCCCTTCTGTATCTGGAAGCGGTGGTAATCTGCCCTCCCCTCTGCCCCCAGTCACTGGTCTCCAGGGGTCACAAAGGGAGGGCAAACATCTATTATCCTGCTGCCTGGCCAAGTCCCACCTCCTTGGAATTTGCTGTCTCCCTCAGTAGGGCAGGTGGAAGGGAGAGAGCCAGCCCTCCCAGGGGCTGTGCAGCCAGAGGCAGCATTGGTGAAGCAGGCCCGCCAAGGACTGGGGCATTACGAAGTGCGGTGGTCCCCGCCTGCAGGGCACTCCACTGCAGACTTGGACCTTGGGGAGCAAGGAAGGTGTGGATTTCAAATCTGGAAGGAACACATTCAGCTCTGCACTCCCTCAGCATGGGCAGCAGTCATCATCTTGGTCAAGCAGCTCAGATTTCTCCCTGCCTGGCTAGCAGCAGCCTAGACTTGGCCCAGCTCGGGGATTCCATGTCCTTCCCTTTGTGCTTCCTGCCCGGTGGCACTGAGCCAGCCACTTTGATGTTCTTCTCCTTCCACCAGGTTTACTTGTTCTGCAGCACCTCTGCCTGCCACACCTCAGGGCTGGAGACTTGCTCCACTGCATGTAGCACTGGCACTACAAGTGAGTCTGGGTTGCGAGTGGTATTTGTTCCTTTATACATCTTCAGGCCTGTGCCTGGCCTCTGGGCCACAGGGGCAGGAGACCAGCCCAAGATTTCATTCTTCCCCTGGGCAGGACAGCGACGATCCTCAGGTCACCGTAATGACACTGCCAGGCCCCAGGACATCGTGAGCTCTCCGGGGCCAGTGGGCTTTGAGGATTCTTATGGGCAGGAGCCCACACTTGGGCCCACAGGTAGGAGGGCTTCTGGGTGGGCCCCTCAGGCCTTACCCACTCTCAGCCCCCAAGATTGTGCTGACAAAACAGGGATGCTCCAGCCATAGCTGAGGGCAAGAGATGGTGTCACTGCAGTCAGTGGGGAACTAAGTGAAGACAGACACAGTCCACCTCATCTGCAGAAAGGCAGCTTCAGCTCTGCCCAGTGTGATACAAAGTTCTGGGGTGGAGGGGAGGGTTGGAGGGGCCTCACCCAGCCCTGCCAATCCCGTCTCTCTGACAGACTCCAATGGGAACTCCAGCCTGAGACCTCTCCTTTGGGCGGTCCTTTTGCTGCCAGCTGTTGCCCTGGTCCTTGGGTTTGGTGTCTTTGTGGGCCTGAGCCAGACCTGGGCCCAGAAGCTCTGGGAAAGCAACAGACAGTGAATGGGCCCAATAAACAATCATTTCAAACCTACTGAAACCAGGTGTGGAGAAGTTATTTGTGACGACTAGAACAGAACTATTTCTTATGTGAGAAACTTCCTCCAAGTCAGCTCTGTCCTTCCAAAACTGTGACGTTGATTACAAATACTTCATATATGCCACACCCTGCACAGAGGCCAATGTCCCCCAAGGCTCAACTCGGGAGCCTCTGCCTCTCCACAAGGAACGGTGGCATTTCAGGCAGAGCAAACAGGACAAAGATACTGGAGGTTAAGACATTGACAGTCAAAGAACACCAACAGCTGGGAACTGGGCCCCTGGCAGGAATGAATGGCTTGTGAAGGCTTGTCACCTCCTCACAGACACAGAAGTTCTGACAAGGGCATCCTCAAAGCACCCTGAGCAGCTGCTGTCATGGATAAGGGTTACTCTAAGACTGAGTTGAAGGAGCACTTCACAGACCCCCTGAGCCTGCCAGCCTACCGCTAAAGGCTGCATTTCTGACCACAGCCTCCCATCCCTTCCCCTGGCCTCCCAAGACTATCCATGTGGGAAGGGCTGGCACAGGAGGAATGGCAGCCTGCTGGCCCTGACACTGGCTGCGATGGTGGGCATGGCCACCAGACAGGTCTGTGCCAGTGCTGGCTATGCCGCTGAGCCCAGTTTGCCCATGTATGGCATGGGCCTTCATCTCTGACTTGGCAGCAAAGCCCTTTCTAGACATGTCAATCCTCTAGGTGGAGAAGGGGACAGGATGCTAGGGTTTGGCCTCAATGGGACAGGGAGAAGAATCTGGTAGGGAAGCCTGAACTTGGTTTCAGACACCTTTCCGGACTTCAGGTAGAGCACGAGCTTAGAGAGCTGTTACAAGAGGAGCTGAGGTACTCAAGTCATGCCTGTGGCCTTAATACTGCATGTACCCCCTACTCATCCAGCTCTGGCCTACTCAGCCTTTCCTGTCTTCAGAATACTGGACAAGCATGTGGACCCCAGAGCTGGCTTCTTACTAGCTGTGTGATATTCAGTAAGTTACTCAACTTCCCTGGGCCTCAGATTTCTCATCTGTAAAATGAGGTTAATGTCTATTCCCATAGAAGTATTGGGTAAAATGAGTTAACAGATAAGAATGCTTAGAATAGTACATAACGGCCAACAGTAACTGGGTGCTATTAACTACTGACTAGAATTGCATTTCCTCTTGCCCCAAGCCTAATGCTTACTTAGTTTTTGTTGTCAATGTTTTGGTTTGGTTTTGTATGTACAAGTTTACAGGCCAATACGAAGAGGGGCTAGGGGAAACTGCTGTCTTTTGACTCTTCTAGCTAGAGGGAGAACATAAAAGGCAGGAAGGCCCAAACATTTGCCATGGAAGCTAAGTGACTTCCCTTCTCTGGGCCTGTCTTCCCATCTATGGCTAGCAACGGCCAGTCTTGCCCTGCCCAACTTCCTGGCTTGTACAGGGAGACACAGGATATATCCTGCAGGGTCAGTGTGATATAGGTGAGGATTCTTAGCTTGGCTGGTTGGAGAAGCCAGGTTGACTTGGTCTTAGGGGCCTGGGTTCTGGTTCCTT
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CCCCCACCCTCTTGCACGTGGACTTCAGGCTTCATGTGCGCTGTGTCTTCAACGCCAGTGACTTCCTGCCCATTCAGGCATCCATTTTCCCACCCCCATCGCCTGCTCCTATGACCCAGCCCGGCCCCCTGCGGCTTGAGCTGCGGATTGCCAAAGGTATGCTATGCTATCCCTGCTCTCTTCTGGCCCCCACTTCCCTGATGCACAGCCCGCCCTGGCTCATGAGTCACTCTCCCTGCAGACGAGACCTTCAGCTCGTACTATGGGGAGGATGACTATCCCATCGTGAGGCTGCTCCGAGAACCAGTCCATGTGGAGGTCCGGCTTCTGCAGAGGACAGACCCCAACCTGGTCCTGCTGCTGCACCAGTGCTGGGGCGCTCCCAGTGCCAACCCCTTCCAGCAGCCCCAGTGGCCCATCCTGTCAGACGGGTGAGTGCCCCCACACTCCCCCCACCTGCTCTGCCTCCTGTAAACAGCCTCTCTGACTTCTCTTCTCAGATGCCCTTTCAAGGGCGACAGCTACAGAACCCAAATGGTAGCCTTGGACGGGGCCACACCTTTCCAGTCGCACTACCAGCGATTCACTGTTGCTACCTTCGCCCTCCTGGACTCAGGCTCCCAGAGAGCCCTCAGAGGACTGGTAAGAAGCCCCGGCTGCCGCATGCCTGGTCCCATCTGTTAAGTGGGAGGAGCTGGTCGCCAAATCCCTCTGGCACCCTGTGAACTTATATGGACAAAGTTCTGGGATGGGGCTTGGCGTCTACCAGGTGTCATGGAAAGCAGCGGGCTTCGGGTCAGCAAGAAGGTAACCCATAACCACCACCAGGAGGAAGGAAAATGCTGCCTGTGCTGCAATCAGCCCTAAATCTGAACTCTGGTCATGGTGTTCTAGGGTGGCCTCACCTCACTTCTGATTCCAGAAATGATAATGTGTTCCATGTAATTCTTTGAATTTTCTTTAACTCAGCAACTTCTCCAGAAGGTAAAGGTAGATAAACTCAGGGTATATTTAGGTCTCCTATGTAATATACAGATGGCCTCAGAGGTGACAGATGCACTTGTCCCATTGAACAACGTATCTTTCACATCACATACCCAAATCTCTAGATTCTTAAATCACTGCCTGTTATTATGTCAGATGTAGACTGATTTCACTTGGAAGCACTGGTTAGTGTGGCTTCGTTCTCATCTCTGCTGTGTGCTGCCCATGAGTGGGGCCTCCTGGGTGCTGGGTTGGGTCAGCTCCTCCTGCTTCTGGTCCCGTAGGGCACTGCCCCTGCCCTTCTGTATCTGGAAGCGGTGGTAATCTGCCCTCCCCTCTGCCCCCAGTCACTGGTCTCCAGGGGTCACAAAGGGAGGGCAAACATCTATTATCCTGCTGCCTGGCCAAGTCCCACCTCCTTGGAATTTGCTGTCTCCCTCAGTAGGGCAGGTGGAAGGGAGAGAGCCAGCCCTCCCAGGGGCTGTGCAGCCAGAGGCAGCATTGGTGAAGCAGGCCCGCCAAGGACTGGGGCATTACGAAGTGCGGTGGTCCCCGCCTGCAGGGCACTCCACTGCAGACTTGGACCTTGGGGAGCAAGGAAGGTGTGGATTTCAAATCTGGAAGGAACACATTCAGCTCTGCACTCCCTCAGCATGGGCAGCAGTCATCATCTTGGTCAAGCAGCTCAGATTTCTCCCTGCCTGGCTAGCAGCAGCCTAGACTTGGCCCAGCTCGGGGATTCCATGTCCTTCCCTTTGTGCTTCCTGCCCGGTGGCACTGAGCCAGCCACTTTGATGTTCTTCTCCTTCCACCAGGTTTACTTGTTCTGCAGCACCTCTGCCTGCCACACCTCAGGGCTGGAGACTTGCTCCACTGCATGTAGCACTGGCACTACAAGTGAGTCTGGGTTGCGAGTGGTATTTGTTCCTTTATACATCTTCAGGCCTGTGCCTGGCCTCTGGGCCACAGGGGCAGGAGACCAGCCCAAGATTTCATTCTTCCCCTGGGCAGGACAGCGACGATCCTCAGGTCACCGTAATGACACTGCCAGGCCCCAGGACATCATGAGCTCTCCGGGGCCAGTGGGCTTTGAGGATTCTTATGGGCAGGAGCCCACACTTGGGCCCACAGGTAGGAGGGCTTCTGGGTGGGCCCCTCAGGCCTTACCCACTCTCAGCCCCCAAGATTGTGCTGACAAAACAGGGATGCTCCAGCCATAGCTGAGGGCAAGAGATGGTGTCACTGCAGTCAGTGGGGAACTAAGTGAAGACAGACACAGTCCACCTCATCTGCAGAAAGGCAGCTTCAGCTCTGCCCAGTGTGATACAAAGTTCTGGGGTGGAGGGGAGGGTTGGAGGGGCCTCACCCAGCCCTGCCAATCCCGTCTCTCTGACAGACTCCAATGGGAACTCCAGCCTGAGACCTCTCCTTTGGGCGGTCCTTTTGCTGCCAGCTGTTGCCCTGGTCCTTGGGTTTGGTGTCTTTGTGGGCCTGAGCCAGACCTGGGCCCAGAAGCTCTGGGAAAGCAACAGACAGTGAATGGGCCCAATAAACAATCATTTCAAACCTACTGAAACCAGGTGTGGAGAAGTTATTTGTGACGACTAGAACAGAACTATTTCTTATGTGAGAAACTTCCTCCAAGTCAGCTCTGTCCTTCCAAAACTGTGACGTTGATTACAAATACTTCATATATGCCACACCCTGCACAGAGGCCAATGTCCCCCAAGGCTCAACTCGGGAGCCTCTGCCTCTCCACAAGGAACGGTGGCATTTCAGGCAGAGCAAACAGGACAAAGATACTGGAGGTTAAGACATTGACAGTCAAAGAACACCAACAGCTGGGAACTGGGCCCCTGGCAGGAATGAATGGCTTGTGAAGGCTTGTCACCTCCTCACAGACACAGAAGTTCTGACAAGGGCATCCTCAAAGCACCCTGAGCAGCTGCTGTCATGGATAAGGGTTACTCTAAGACTGAGTTGAAGGAGCACTTCACAGACCCCCTGAGCCTGCCAGCCTACCGCTAAAGGCTGCATTTCTGACCACAGCCTCCCATCCCTTCCCCTGGCCTCCCAAGACTATCCATGTGGGAAGGGCTGGCACAGGAGGAATGGCAGCCTGCTGGCCCTGACACTGGCTGCGATGGTGGGCATGGCCACCAGACAGGTCTGTGCCAGTGCTGGCTATGCCGCTGAGCCCAGTTTGCCCATGTATGGCATGGGCCTTCATCTCTGACTTGGCAGCAAAGCCCTTTCTAGACATGTCAATCCTCTAGGTGGAGAAGGGGACAGGATGCTAGGGTTTGGCCTCAATGGGACAGGGAGAAGAATCTGGTAGGGAAGCCTGAACTTGGTTTCAGACACCTTTCCGGACTTCAGGTAGAGCACGAGCTTAGAGAGCTGTTACAAGAGGAGCTGAGGTACTCAAGTCATGCCTGTGGCCTTAATACTGCATGTACCCCCTACTCATCCAGCTCTGGCCTACTCAGCCTTTCCTGTCTTCAGAATACTGGACAAGCATGTGGACCCCAGAGCTGGCTTCTTACTAGCTGTGTGATATTCAGTAAGTTACTCAACTTCCCTGGGCCTCAGATTTCTCATCTGTAAAATGAGGTTAATGTCTATTCCCATAGAAGTATTGGGTAAAATGAGTTAACAGATAAGAATGCTTAGAATAGTACATAACGGCCAACAGTAACTGGGTGCTATTAACTACTGACTAGAATTGCATTTCCTCTTGCCCCAAGCCTAATGCTTACTTAGTTTTTGTTGTCAATGTTTTGGTTTGGTTTTGTATGTACAAGTTTACAGGCCAATACGAAGAGGGGCTAGGGGAAACTGCTGTCTTTTGACTCTTCTAGCTAGAGGGAGAACATAAAAGGCAGGAAGGCCCAAACATTTGCCATGGAAGCTAAGTGACTTCCCTTCTCTGGGCCTGTCTTCCCATCTATGGCTAGCAACGGCCAGTCTTGCCCTGCCCAACTTCCTGGCTTGTACAGGGAGACACAGGATATATCCTGCAGGGTCAGTGTGATATAGGTGAGGATTCTTAGCTTGGCTGGTTGGAGAAGCCAGGTTGACTTGGTCTTAGGGGCCTGGGTTCTGGTTCCTT
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Task1_train_15851
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A variant has been detected on Chromosome 11 in DDB1 (damage specific DNA binding protein 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; White-Kernohan syndrome
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GACCAACCTCACCGATGCTGAAGTGATCTAGATAAACAGCAGATGAACAAATGTCTCCAAGCATCTGCCAGGGTCCACACAGGAGTGGAAAGGTGGTAAATGCAGCCCTAATAGAGCCCTACGAATAAGCTACATGAGGCTTCTATTTCTTATTCCCCAAAGTCCTGCTAATGATTACAATAGATGTCATTTTTGCATGAATGCCTGAAGGAGGCCAGCTTAAAAGTAGCTTACAGCTTACAAACCTACAGCTGGTGGGGAAAAGGCCTATTTCATTCTAATTGAGACTTACTTGGGTAATACAAACTGCATCCTGTGGGAAGATATGAATAGAGTAAGACCCTGTGACCACCAGTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTTGGGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACCACAACCTACGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCGATTACAGGCGCATGCCACCATGCCTGGTTAACTTTTGTTTTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGTTGACTGTGACCACCAGTCTTAGCAGTTTTTCTCAACCCCCAAATCAGACCTCTAAAATATCTAAGTTCTTTACTGTGTATGAGCCATTTAAATTATTTAAAGTTCCTTAGTAAAGATTACAAAATTGTATAGAAATATATTGTATAAATTTATCACTGAAATAAAACAGGAAGTAGGTTGGTGACACTGTTATCTATTCATTCATCTTACCTAGCACAATTGAGTTTATATATAAGGATGAAAGCTCTTTAATAATAAATAGGTGAGCTGGTGCCAGTCTTCAGGCCAATAGTTAGATAACACTGACAAAGCAATGACTCAGTATCTGGGCACGTCCCACACTTGGTCTGCAAACTGACAGAACTTTCCCTCCGGTTTTACCAATCTACCACTGCCAGGTGGCTAAAAGGAAAACCAGGTGGATAAAAAGACAGAGACAGTTCATTAATCCTTAGGCACTCCAGTGCCCTACCCACCAAAGGCAAGACAGACTCTGGCCACAGAGTGAAGAACAGCTCAGAAGGTAAGGAGAGAGTGCTAAAAGCTGAAGGATGTCAGGGTCACTCCAAACTTCAAAAAATTGCTGAGGGGTGGAAGGGTGTCAGAAATGAGGCTCTCGTGGATAACAATATGCCAGAAGGCTATCTGCCCCCGTATTGCAGATAGATTGAAAGTAAGGATCAGAATAGGGTAAGCTTCGGTTATAATTAGTATGTGGAAAGGGCTGCCAAGAGTCATATTGGATGGTAGCATCATGATTTTTTCTTTTTTTGTGCATTTTGGCATTTTCTAATTTTATAAATAAGGATGTATCACTAGTTTAACAAAGGGAAAAAATTTGAGTGTCTCGGAAGATATAATTAGTGCTAAAATAGGATCCGAAACTATATTTTTATGTTTATATATATAATGACCCGAGTCTATAAAAGAAAATGTAAATAAATACACAGACATTTGCAGAAGAAAAATAAAGCTAAAAGGAGCAACTCTAAGGTTAAGAGTTGTGATCTCTGAGTAGTGGATTATCTGTAATTTTTTCCCTAGAATTTTTACATTATTTTTGGAGCCATAAAAATTGGTTGTTTTAAAATCCAGTGGTGCTCTGTACTGCATCTAGGTCAATTCAAGTATATGGTAACACCTGCCCCTTTCTCAGTTATCACCTGGATAAGCTGCTGATGAGCCACGTTGCCACAGAAGAAAGTCTGCTGATCATCCACGAAACCCATCAGTTCGGTTTCTTCTACCTCCTCTCCATTTAACATGAGAACTCTGCAGCAGAATGGAGGGCCTGGGTCAGCCTGGGACCAGCTTCCCCACCTCACAACCTTCTCACCAGCACCTACAGCTGGCACTAGACCCATCCTTACCTTGTCTGGCCCACAAAAGAGAGCACCAAAGTGTCATCAGTCTCACGATTAGGGTCAGACCGCAGTGGCCATAATCCTGGAACAAGGACCAAGGATTCAGATGCATAGGACAGACCAACACTTAGCATGCATATCTACGGACAGGGCAGGCCAGGGGCAGTGGCTCATGCCTATAATCTCAACACTTGGGAAGGCAGAGGCAGGAGGACTGCTTGGAACCAGGAGTTCTAGACCAGCCTGGGCAAAATGGAGAGACCTTGTCCCTGCTAAAAATACAAAAGAACTTGCTAGGTGTGGTGGCACAAAACTATAGTCCCAGCTACATGGGAGGCTGAGGTGGGGGGATTGCTTAAGATTAGGAGAAAGAGGCTGCAGCTATGATCATGTCATTGCACTCCAGCCTGGGTGACACAGCAAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGATAGATATATATATATATATATATATATATATATATATATATATATATATATATATAGACATGGCAGCCTGACACCACTGGAAGGGCTGGAACATGGAGTCCTGAGCTGGAACCCCCTCTCTGCTCCTTCTTGGTTTTAAGGCTCTAAAAAGTTAAATAGTTTTGTTTTGTTTGTTTGCTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAAGGCAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCGGGCCAAAAGTTAGATAATTTTAAAGCTGTTTTGAGCCTATTTTAAATTTGGGATTGGATATACATTTCCATGACCCAAAGTCTAAATTTATTTATTTATTTATTTACTTATTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGGGTGCAATGGCACGATCTCGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGTGTCACCACGCCTGGCTAATTTTTTCTATTTTTAGTAGAGACAGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCACTCGGTCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGTACCCAGCCTAAATTTATTTTTTAAAAGTACACAGAAAAGTCTCATTCCCATACCTCCCTCCAACCCATCCCCCAAACAAGTAATCAATAAAGGCATCTTGTTTAGCCTTCTGGTAAAGAGATGGGGTGTGGGAGGATCTTGCTATGTTGCTCCAGTCTGGCCTCGATCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAACAGTAAGGACTACAGGCCCACTATGCAACACTAAGCTTAATTTTTTTTACTTTAAGGAAATAGAGTATTACAAACAAATGCAAATATAAAATAGTCTATCATGCACTATTTGGCACCTTGTTCTTTCATTGAACAATATATGCTTGAAGCCCTTATCAGAACACAGTATTTAATTGTGTAAATCATTTATCTATAATTATTAAATTATGCAGATTAACAAATCCCTTCTCATTATATTTATTCAGTATTTTGCTATAACATACAATGCCACAAGAAATAAGCTTGTATTTTTATGTCACTTTATACATATAAAGGTCAGGTAGAGGCTCAGAACTGGGACTACTAAGTAAATCGCTAACTGCTGTCTTTGATATTGCCCAATTCCCTTCTATAGAGGATGCACAAGCATGTTTATTTTCTCACAGCCCGACCAACATAATGTGTGGTCAAACTTCTGGATTTTGGTCATCTAGTAGAGTACTGCTGTTTGGTGTTAATGTGCATTTCTCAGGACTGTTGCCTGTCCATTCATGTCCTTTGCTAGTTTGGGGA
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GACCAACCTCACCGATGCTGAAGTGATCTAGATAAACAGCAGATGAACAAATGTCTCCAAGCATCTGCCAGGGTCCACACAGGAGTGGAAAGGTGGTAAATGCAGCCCTAATAGAGCCCTACGAATAAGCTACATGAGGCTTCTATTTCTTATTCCCCAAAGTCCTGCTAATGATTACAATAGATGTCATTTTTGCATGAATGCCTGAAGGAGGCCAGCTTAAAAGTAGCTTACAGCTTACAAACCTACAGCTGGTGGGGAAAAGGCCTATTTCATTCTAATTGAGACTTACTTGGGTAATACAAACTGCATCCTGTGGGAAGATATGAATAGAGTAAGACCCTGTGACCACCAGTTTTTTGGCTTTTTTTTTTTTTTTTTTTTTTTTGGGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACCACAACCTACGCCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCGATTACAGGCGCATGCCACCATGCCTGGTTAACTTTTGTTTTTTGAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGTTGACTGTGACCACCAGTCTTAGCAGTTTTTCTCAACCCCCAAATCAGACCTCTAAAATATCTAAGTTCTTTACTGTGTATGAGCCATTTAAATTATTTAAAGTTCCTTAGTAAAGATTACAAAATTGTATAGAAATATATTGTATAAATTTATCACTGAAATAAAACAGGAAGTAGGTTGGTGACACTGTTATCTATTCATTCATCTTACCTAGCACAATTGAGTTTATATATAAGGATGAAAGCTCTTTAATAATAAATAGGTGAGCTGGTGCCAGTCTTCAGGCCAATAGTTAGATAACACTGACAAAGCAATGACTCAGTATCTGGGCACGTCCCACACTTGGTCTGCAAACTGACAGAACTTTCCCTCCGGTTTTACCAATCTACCACTGCCAGGTGGCTAAAAGGAAAACCAGGTGGATAAAAAGACAGAGACAGTTCATTAATCCTTAGGCACTCCAGTGCCCTACCCACCAAAGGCAAGACAGACTCTGGCCACAGAGTGAAGAACAGCTCAGAAGGTAAGGAGAGAGTGCTAAAAGCTGAAGGATGTCAGGGTCACTCCAAACTTCAAAAAATTGCTGAGGGGTGGAAGGGTGTCAGAAATGAGGCTCTCGTGGATAACAATATGCCAGAAGGCTATCTGCCCCCGTATTGCAGATAGATTGAAAGTAAGGATCAGAATAGGGTAAGCTTCGGTTATAATTAGTATGTGGAAAGGGCTGCCAAGAGTCATATTGGATGGTAGCATCATGATTTTTTCTTTTTTTGTGCATTTTGGCATTTTCTAATTTTATAAATAAGGATGTATCACTAGTTTAACAAAGGGAAAAAATTTGAGTGTCTCGGAAGATATAATTAGTGCTAAAATAGGATCCGAAACTATATTTTTATGTTTATATATATAATGACCCGAGTCTATAAAAGAAAATGTAAATAAATACACAGACATTTGCAGAAGAAAAATAAAGCTAAAAGGAGCAACTCTAAGGTTAAGAGTTGTGATCTCTGAGTAGTGGATTATCTGTAATTTTTTCCCTAGAATTTTTACATTATTTTTGGAGCCATAAAAATTGGTTGTTTTAAAATCCAGTGGTGCTCTGTACTGCATCTAGGTCAATTCAAGTATATGGTAACACCTGCCCCTTTCTCAGTTATCACCTGGATAAGCTGCTGATGAGCCACGTTGCCACAGAAGAAAGTCTGCTGATCATCCACGAAACCCATCAGTTCGGTTTCTTCTACCTCCTCTCCATTTAACATGAGAACTCTGCAGCAGAATGGAGGGCCTGGGTCAGCCTGGGACCAGCTTCCCCACCTCACAACCTTCTCACCAGCACCTACAGCTGGCACTAGACCCATCCTTACCTTGTCTGGCCCACAACAGAGAGCACCAAAGTGTCATCAGTCTCACGATTAGGGTCAGACCGCAGTGGCCATAATCCTGGAACAAGGACCAAGGATTCAGATGCATAGGACAGACCAACACTTAGCATGCATATCTACGGACAGGGCAGGCCAGGGGCAGTGGCTCATGCCTATAATCTCAACACTTGGGAAGGCAGAGGCAGGAGGACTGCTTGGAACCAGGAGTTCTAGACCAGCCTGGGCAAAATGGAGAGACCTTGTCCCTGCTAAAAATACAAAAGAACTTGCTAGGTGTGGTGGCACAAAACTATAGTCCCAGCTACATGGGAGGCTGAGGTGGGGGGATTGCTTAAGATTAGGAGAAAGAGGCTGCAGCTATGATCATGTCATTGCACTCCAGCCTGGGTGACACAGCAAGATCCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGATAGATATATATATATATATATATATATATATATATATATATATATATATATATATAGACATGGCAGCCTGACACCACTGGAAGGGCTGGAACATGGAGTCCTGAGCTGGAACCCCCTCTCTGCTCCTTCTTGGTTTTAAGGCTCTAAAAAGTTAAATAGTTTTGTTTTGTTTGTTTGCTTGTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCCCGATCTCAGCTCACTGCAAGCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAAGGCAGGTGCCCGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCGGGCCAAAAGTTAGATAATTTTAAAGCTGTTTTGAGCCTATTTTAAATTTGGGATTGGATATACATTTCCATGACCCAAAGTCTAAATTTATTTATTTATTTATTTACTTATTTATTTGAGACGGAGTCTTGCTCTGTCACCCAGACTGGGGTGCAATGGCACGATCTCGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGTGTCACCACGCCTGGCTAATTTTTTCTATTTTTAGTAGAGACAGGATTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCCACTCGGTCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACTGTACCCAGCCTAAATTTATTTTTTAAAAGTACACAGAAAAGTCTCATTCCCATACCTCCCTCCAACCCATCCCCCAAACAAGTAATCAATAAAGGCATCTTGTTTAGCCTTCTGGTAAAGAGATGGGGTGTGGGAGGATCTTGCTATGTTGCTCCAGTCTGGCCTCGATCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAACAGTAAGGACTACAGGCCCACTATGCAACACTAAGCTTAATTTTTTTTACTTTAAGGAAATAGAGTATTACAAACAAATGCAAATATAAAATAGTCTATCATGCACTATTTGGCACCTTGTTCTTTCATTGAACAATATATGCTTGAAGCCCTTATCAGAACACAGTATTTAATTGTGTAAATCATTTATCTATAATTATTAAATTATGCAGATTAACAAATCCCTTCTCATTATATTTATTCAGTATTTTGCTATAACATACAATGCCACAAGAAATAAGCTTGTATTTTTATGTCACTTTATACATATAAAGGTCAGGTAGAGGCTCAGAACTGGGACTACTAAGTAAATCGCTAACTGCTGTCTTTGATATTGCCCAATTCCCTTCTATAGAGGATGCACAAGCATGTTTATTTTCTCACAGCCCGACCAACATAATGTGTGGTCAAACTTCTGGATTTTGGTCATCTAGTAGAGTACTGCTGTTTGGTGTTAATGTGCATTTCTCAGGACTGTTGCCTGTCCATTCATGTCCTTTGCTAGTTTGGGGA
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Task1_train_15852
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A genomic change on Chromosome 11 affects DDB1 (damage specific DNA binding protein 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; not provided
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AAAACATTACATGCAATAGAAATTGCCAAAATTACGGCTGGGCACAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAACTGCCAAAATTTTCCCCTCTTAAAGTTGCCCCATGTGGTAGTTCATGCCTGTAATCCTAGCTACTTGGGAGGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTACGATCATGCCACTGCATTCTAGCTCTCCAGCCTGAGCGACAGAGTAAGACCCTGTCTCTTTGACAAAAAAAGTTGCCCCAGTCAATGAAAAGGGGAAGCCTATTTTGATTATCATTTATCTAAGTTAGCAAGCAAGTTCTCTGTAAGCAAATCCAGGCTAATCTCTCTCTGTATTCCCAATGGCCAACGCAATACCTTATATACATAGTAAATTGTGTAACAGGCATCTGTGAATCTCCTTTTGATAAATAAGAGAAAGGGAGGAGCAAGGTGAGGACAAGGAAAGAAAAGATGAAAGGAAAAAAAGGTAGGACTGCGCTCACCTTGATGATAGGAGGGGCAATAGCCAGGTATTTGTCACCATTGTGATAGGTGATTGACTCCTGTCCAATGATGATGGCCCCCCCAAAGGGCTCTGGGACTGCAGGAAAGACAGCAAAATTAGAATGCTCAGCACTCTGGGTCTGCCAAACCAGGACTGGCAAAAGTACAGGTCTAGTTAGCCCCAAGGCAAACTTTAAGGTCATCATTATTTTAAAAAGGACATCAAAGCCCAGGGAACATGATAGCCTTTACGAGACTCTTAGAATTTGTTAACTGGCCATTATCTAATCCTGGTAGTATTTTTACTGCCACTCTTCTGGTGTTCGACTATTCCTATGGGTGGGGAGTCTTCTCCATGTTCTTCCCCATGCATTCTCCCCCATTTTTCTTCTCAACTTCTAATCCTTTCCAAGTAAAAGCTTTTACTTTTTTTTCCTGGTTTCCACTCTTGTTCCTTAGCTTAACTTCCCCCCATTATCAGGGCTACCACTGAGAAGAGCCAATTTTCTCTTAAGAGTTTTAAAACTTCCCTACTGAGTGAGACAAACATAATGTAGGGGCAGACTTAGGACAAGGAGTGAAGAGGCCTGGATTCTAGCCCAGACTTTGTCAATCATGGACAGGCATGGGCAGGTCCCTCTGGCCCTGTTTCTTCATCTATGAGGTAAAGAAATCAGATAAGCTCTATTGCTCCCTTTCAGTTTTTTGTTGTTGTTTTTTTTTTTAAAGAGATGGGGTCTCATTATGCTGCCCAGGCTGAACTCAAACTCCTAGGCTCAAGTGAACCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTATAGATCCTGGCTTCCTTTCAGTTTTAAATGTTATGCCCAGCAATAAAATAATGAGACTCATTTCCATATGCCACTGTGCAAATCAATCTCAATGTTTTATAGTCAATCCCTCCACCCAAGTAAAAGACAAGTTATACTTTTGGGGGGAGAAGTGAAAAACAGAAAATCTCAAAGACAGAAAAAAACAAAGCACAATTAGAGAAAGAAAACATAAAGGAGTGGTAAACAATGCACACCTTCAATAATACCGAGCGCCAAAACGAAGGGCAGAGAAGGTGAGGGAGCGAACAAGAACAGGGAACTAGCCTAGACCCAGGTGGAGGCACATTTCCTAAACCCCCTACCAACCTGCGATCACCATGGAAGCTTCAGCTTCGACATTTTCCTGTTTCCAAGGGCCCTTATTGAATTCCTTTTCTCGGAGAGACACCTCATAGGTTTTTACGTGCCGCCCCTGAGGGTCCTGGGGGGGAAAGGTAAAATGGTTAGCCCTTAGGAAGGGTGAGCCTTGGGCTAGAGAGAGGTGCTGTAAGGAATAAGCCACCACTACCCAGCATCTGACAGTCCTGTCATGTCAGCCCTCCCACCCTTATCCATCACTATACTGACAAGCACTAGCTGAGCCTGGGATGAATTCCTAGGTAGACTGCAGCATCTGAGATCTACCATTCTTAACAATTCAACCAACCAAGAAAGGTTTAAAGAATTAGAAAAATGAACTTGTCACACTGCACTAGGTACTATAAGAGATACTGTGTGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGAACTTTGGAAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTAGCCAACACGGCAAAACCCCGTCCCTGCTAAAAATACAAAAATTAGCTGGCATGGGGGCGCGTGCCTACAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGGTTGAGCTCCAGCCTGGGCGACCGAGCAAGACTCCATCTCAGAAAAAAAAAAAAAAGAGATACAGTGTGTGTGCCTGTGTGTGTTCCTTAGCCTCGAGAAACTTACAAAACAGCTAAGTGAAACACGCACTGATAAGCTACACCTATGAGATTTTTTTTAAATTGATACAATTCTTAAAAGCATTCTGATGGAATAATGGTAGAGAGAACACAATTGATTGCTCCGCTAAAGTTGTCAAAACTTTCAGTCCTGCCATTGTCAACATCATCTTCCCCTCCTTTTTCTGAATTATGACTCATGTCAGTCCTGGGACTGCCAAGGTCACCTTTAAGATGCTAAAAAGCAGGGACCAGAAGAAAGCTACACTCAGCCAGTGGAAGACAGCTTCAACAAAGAAGTTATGGAAGGAATTCAGCAATGTGTTTCAGGGCAGGGATCACATCTTAGTCACTGTTACAGCTCCTGAAGCATGAATACCTTTCACATAGCACTAAGTACCTAAATATTTGTCAAATTGAATTTCTGGCATAAAACAGAAGATAGTAATTTTTGGCTGATGAAAACATTTTCCCATCAATGAGTAGGGTTATGACACAACTTTGCAAAAAGTTCAAGTGTGGATTTGGGCCTCTGAGACACACATGCAGAAATGAAGATCTGATCACAGCTGGCAGCCCTGAAGCTTAGAACAACCAGCCTTGAATAATCAACAACATCAAAGTTTTAATGACCTAATATTACAAAACTAAAGAACATAGAGAAATTCTAAGTTTTTATTTTAACTCATACTAAGTAAGATCAAACAAAATCTCCTGGTTTCAACCTTATTCAATTGGGTCTTATTCCAATAGCTTCAGAACTACAGTAACACTAAGAAATATACAAAAATATATCAGCACCTCCAACATATAACAAGGCTATCAAACTGTTTATGTGCCAACACACTCTATGTGGAACTGGACTATCATTTCCTTCCATCACTTATTCAGCCACATGCAAATGAAATGATCTTATGCTGCATGGCCCTTTGTTAAAGGGCTGAGATTTTACCAAGATACTGGCATGTTAGTCTGGTGCTCTACCACCCCACCCCCGCTTAACAGATCTGGACCAGAGAACAGCTGCCCAGGATCAGCTCTGCTACAGTTTTAGGCAGACTAAAATAGAAGTTAAGAGCCAGCAAGTTGCCGAGCACGGTGGCTCACGTCTGAAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCATGAGTTTGAGACGATTCTGGCCAACATGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCAGGCCATCGCACTCCGGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATAATAAAATAAAATTAAAATAAGCCAGCAAGTCACCAGTAAGTGATTACT
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AAAACATTACATGCAATAGAAATTGCCAAAATTACGGCTGGGCACAGTGGCTCATGCCTGTAATCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGATGGCACATGCCTGTAATCCCAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCCTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAGAAACTGCCAAAATTTTCCCCTCTTAAAGTTGCCCCATGTGGTAGTTCATGCCTGTAATCCTAGCTACTTGGGAGGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTACAGTGAGCTACGATCATGCCACTGCATTCTAGCTCTCCAGCCTGAGCGACAGAGTAAGACCCTGTCTCTTTGACAAAAAAAGTTGCCCCAGTCAATGAAAAGGGGAAGCCTATTTTGATTATCATTTATCTAAGTTAGCAAGCAAGTTCTCTGTAAGCAAATCCAGGCTAATCTCTCTCTGTATTCCCAATGGCCAACGCAATACCTTATATACATAGTAAATTGTGTAACAGGCATCTGTGAATCTCCTTTTGATAAATAAGAGAAAGGGAGGAGCAAGGTGAGGACAAGGAAAGAAAAGATGAAAGGAAAAAAAGGTAGGACTGCGCTCACCTTGATGATAGGAGGGGCAATAGCCAGGTATTTGTCACCATTGTGATAGGTGATTGACTCCTGTCCAATGATGATGGCCCCCCCAAAGGGCTCTGGGACTGCAGGAAAGACAGCAAAATTAGAATGCTCAGCACTCTGGGTCTGCCAAACCAGGACTGGCAAAAGTACAGGTCTAGTTAGCCCCAAGGCAAACTTTAAGGTCATCATTATTTTAAAAAGGACATCAAAGCCCAGGGAACATGATAGCCTTTACGAGACTCTTAGAATTTGTTAACTGGCCATTATCTAATCCTGGTAGTATTTTTACTGCCACTCTTCTGGTGTTCGACTATTCCTATGGGTGGGGAGTCTTCTCCATGTTCTTCCCCATGCATTCTCCCCCATTTTTCTTCTCAACTTCTAATCCTTTCCAAGTAAAAGCTTTTACTTTTTTTTCCTGGTTTCCACTCTTGTTCCTTAGCTTAACTTCCCCCCATTATCAGGGCTACCACTGAGAAGAGCCAATTTTCTCTTAAGAGTTTTAAAACTTCCCTACTGAGTGAGACAAACATAATGTAGGGGCAGACTTAGGACAAGGAGTGAAGAGGCCTGGATTCTAGCCCAGACTTTGTCAATCATGGACAGGCATGGGCAGGTCCCTCTGGCCCTGTTTCTTCATCTATGAGGTAAAGAAATCAGATAAGCTCTATTGCTCCCTTTCAGTTTTTTGTTGTTGTTTTTTTTTTTAAAGAGATGGGGTCTCATTATGCTGCCCAGGCTGAACTCAAACTCCTAGGCTCAAGTGAACCTCCCACCTCAGCCTCTTGAGTAGCTGGGACTATAGATCCTGGCTTCCTTTCAGTTTTAAATGTTATGCCCAGCAATAAAATAATGAGACTCATTTCCATATGCCACTGTGCAAATCAATCTCAATGTTTTATAGTCAATCCCTCCACCCAAGTAAAAGACAAGTTATACTTTTGGGGGGAGAAGTGAAAAACAGAAAATCTCAAAGACAGAAAAAAACAAAGCACAATTAGAGAAAGAAAACATAAAGGAGTGGTAAACAATGCACACCTTCAATAATACCGAGCGCCAAAACGAAGGGCAGAGAAGGTGAGGGAGCGAACAAGAACAGGGAACTAGCCTAGACCCAGGTGGAGGCACATTTCCTAAACCCCCTACCAACCTGCGATCACCATGGAAGCTTCAGCTTCGACATTTTCCTGTTTCCAAGGGCCCTTATTGAATTCCTTTTCTCGGAGAGACACCTCATAGGTTTTTACGTGCTGCCCCTGAGGGTCCTGGGGGGGAAAGGTAAAATGGTTAGCCCTTAGGAAGGGTGAGCCTTGGGCTAGAGAGAGGTGCTGTAAGGAATAAGCCACCACTACCCAGCATCTGACAGTCCTGTCATGTCAGCCCTCCCACCCTTATCCATCACTATACTGACAAGCACTAGCTGAGCCTGGGATGAATTCCTAGGTAGACTGCAGCATCTGAGATCTACCATTCTTAACAATTCAACCAACCAAGAAAGGTTTAAAGAATTAGAAAAATGAACTTGTCACACTGCACTAGGTACTATAAGAGATACTGTGTGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGAACTTTGGAAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAATTCAAGACCAGCCTAGCCAACACGGCAAAACCCCGTCCCTGCTAAAAATACAAAAATTAGCTGGCATGGGGGCGCGTGCCTACAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGAAGGTTGAGCTCCAGCCTGGGCGACCGAGCAAGACTCCATCTCAGAAAAAAAAAAAAAAGAGATACAGTGTGTGTGCCTGTGTGTGTTCCTTAGCCTCGAGAAACTTACAAAACAGCTAAGTGAAACACGCACTGATAAGCTACACCTATGAGATTTTTTTTAAATTGATACAATTCTTAAAAGCATTCTGATGGAATAATGGTAGAGAGAACACAATTGATTGCTCCGCTAAAGTTGTCAAAACTTTCAGTCCTGCCATTGTCAACATCATCTTCCCCTCCTTTTTCTGAATTATGACTCATGTCAGTCCTGGGACTGCCAAGGTCACCTTTAAGATGCTAAAAAGCAGGGACCAGAAGAAAGCTACACTCAGCCAGTGGAAGACAGCTTCAACAAAGAAGTTATGGAAGGAATTCAGCAATGTGTTTCAGGGCAGGGATCACATCTTAGTCACTGTTACAGCTCCTGAAGCATGAATACCTTTCACATAGCACTAAGTACCTAAATATTTGTCAAATTGAATTTCTGGCATAAAACAGAAGATAGTAATTTTTGGCTGATGAAAACATTTTCCCATCAATGAGTAGGGTTATGACACAACTTTGCAAAAAGTTCAAGTGTGGATTTGGGCCTCTGAGACACACATGCAGAAATGAAGATCTGATCACAGCTGGCAGCCCTGAAGCTTAGAACAACCAGCCTTGAATAATCAACAACATCAAAGTTTTAATGACCTAATATTACAAAACTAAAGAACATAGAGAAATTCTAAGTTTTTATTTTAACTCATACTAAGTAAGATCAAACAAAATCTCCTGGTTTCAACCTTATTCAATTGGGTCTTATTCCAATAGCTTCAGAACTACAGTAACACTAAGAAATATACAAAAATATATCAGCACCTCCAACATATAACAAGGCTATCAAACTGTTTATGTGCCAACACACTCTATGTGGAACTGGACTATCATTTCCTTCCATCACTTATTCAGCCACATGCAAATGAAATGATCTTATGCTGCATGGCCCTTTGTTAAAGGGCTGAGATTTTACCAAGATACTGGCATGTTAGTCTGGTGCTCTACCACCCCACCCCCGCTTAACAGATCTGGACCAGAGAACAGCTGCCCAGGATCAGCTCTGCTACAGTTTTAGGCAGACTAAAATAGAAGTTAAGAGCCAGCAAGTTGCCGAGCACGGTGGCTCACGTCTGAAATCTCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCATGAGTTTGAGACGATTCTGGCCAACATGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCAGGCCATCGCACTCCGGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAAAATAATAAAATAAAATTAAAATAAGCCAGCAAGTCACCAGTAAGTGATTACT
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Task1_train_15853
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Assess the clinical impact of this variant on gene TMEM138 (transmembrane protein 138), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Joubert syndrome 16
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AAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTTCTTAGACTCTCATTGCTATAGAAATTGACATGAGGCTAAAAGAATTTGCCGACAAGGCTTCATTGGAGCT
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AAAGGACAGGCCTCGTGGTGTCCCTCAGGACATAGTACCTGCTCTTGGGTCCTCACACAGGCCTTCATTGGTTGTACTTTTTTTTATGTCTACAGCATCCAGGATATTGCAGTCCTCTTCAACATCATCATCATTTTCCTCATGTTCTTCAACACCTTCGTCTTCCAGGCTGGCCTGGTCAACCTCCTATTCCATAAGTTCAAAGGGACCATCATCCTGACAGCTGTGTACTTTGCCCTCAGCATCTCCCTTCATGTCTGGGTCATGGTAAGAGTGGCAGTCTGAATTCTTTTTTTAATTTTTATTTTAAATAGAGGTGGGGTCTTACTTTGTTACCAAGGCTGGTCTCAAACTCCTGAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAGCTCAAGCAATTCTCCTGCTTCTGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGTGCCCGGCCTGAACTCTGAATTCCTGAATCGCTAAAGGGCTAGGAATAACTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCTGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAAGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTTCTTAGACTCTCATTGCTATAGAAATTGACATGAGGCTAAAAGAATTTGCCGACAAGGCTTCATTGGAGCT
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Task1_train_15854
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Consider this mutation in TMEM138 (transmembrane protein 138) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Joubert syndrome 16
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CCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGCAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTTCTTAGACTCTCATTGCTATAGAAATTGACATGAGGCTAAAAGAATTTGCCGACAAGGCTTCATTGGAGCTTATGCCTGGGCATAAGAGACACAACACAAGTCAAAGAGAGAGTTCCCTGACTGACTCCAAACAAAGCCTGCAGGGATTTTTCTCTTAGGCAAAGCACTGGAATTGACCTCGGGTAGGGTAGGCAGGCTGGGCTGGACAAAGCACGTGAGGGTAGGGTGTGCAGGTCAGCATCTGGTTGTAAGGGTTATCTTGAATAATGGACCACCAGGTAGTCTAGCCAATGGCAGCAAATCTGTATTCTTTCCTGAGGAGGGACAGTCCACACACAATGTTGGTTTGATATTTTGGACCTCCTAAGGCCAGTTCCTGGAATTCTTTAAGTAAAAGGCCTGGTTAAACATTGTGAGAGCACAGAAGATGAATACAAAATGGCGATTTTCTTTGTATGACTAAAGCGTTGATGATAGTGGATACATCAGCAAGGTAGAGGGGTGGGTTTTGTGGTCAGTGGGGATGCATGAAAGGATGCTGTAGTGGGGGTGAGCTGAAGCCACACCCTGTCTCTACTCTGTCTCAAAAGCACTACAAATTTTCAAGGGCAAAGGCATGGATACAGAGAGAGTAAAGAATGGGGGCCATTAATTCACCCAGTCTCTCACACC
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CCGCTTCCTGGGTTCAAGCAATTCTCCTCCCTCAGTCTCCTGAGTACCTGGGATTACAGGCACGCACCACCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACTGGGTTTCACCATGTTGGCCGGGATGGTCTCAATCTCTTGACCTCGTGATCCTCCTGCCTCGGCCTCTGAAGTGCTAGGATTACAGGCGTGAGCTACTGCGCCCGGCCACTGGGATATCTTTTCTCTGGGAACCCAGCTTCATTCTTTGACATCTCACACAATCCTTCGTAGAGAACAGGTGAAATGAAAGTGGTTTGGGTTGGAGCCCTGGGCATGTGAGAGTTTCATAAGGTACTCTTGACCAACCTTATGTGTTGAAAAACAGCCTTGTCCAAGAGTCAGGGGACTCTTCCAGAACATTCAATTCACCTTTGCCCCAAACAGGCCTACCAGGGCTAAAACAGGTAGTTGAATGTGTCTCATCATTAGCTATTTGGGCAGGTGGATGTTGATACAGGTTATTCTTAGGCATCAGTGCCCCATGGCTAATGCTGTAGGCAGTGGATGTTTTTGGAAGTAGCCAAGCAGGATTGCTGCTTGCCCTTGAGTGCTCCATGCCGTCTGCCAAGCTCCCATCACTTTAACTAGGAGAACCGGCCTCCAGGATCCCTCCCTTTGGTTCTAACATAGGCCTCAGATCAGATCCAGTGTCTGTGGTTTCAGATTTCTTCTGCTTCACAAATTCTTCCAGCTCTTTGAGTATCTTGTATATTTCTCATGTACTCAATTCAATTGAACTCTAAAACCTCAGGGTTCTCTAGTTGTCACTTCATTATTAAAGCCACTTTCACACCTGAACCCCCTGTTAGGTTGTGCTTGTGATTCCACAGAAAGAAGTAGAGGTCCCAGGAAAGAAGCAAAGCAACACCAGAGTCTCCGGGTGCTTCCTGAAGAGGATTCTGTGCCCTGGTTCCTGGAGCCAAAATAGGTCCTGGCTTTGTACTATAAAAGCCGTTAATCTCATTAAACCCTGAGTACACCAAAGTCTTTATCTGACAGGAGCTGAGCCAGCGATTTTTCAAGGCAAGACAGTGACCAGCTGAACTCCTGAGATAATGAATATATCATTTCTCCTTGGCAAAGGTTATGGAATTAAAGAGAATAAATAACTTAGTTCATACTTCCTCCCTCAAAGTTAAAAGATATTCCCTTTGCAGCGAAAAATGGAGCTTTGAGGCTCCTTCGAGAAACGCTCCTTGGGGTTGTAGAAAGGAGGAAGAGGTTAGCATGATTTTAAAGCAACTGGCATCTCTGCAGCTAACCAAGTTGGAGACATTAGGGCTTCTTGTGGCCATTAACTTTTGTGTATCTCACATCTCCTTCAGAACTTACGCTGGAAAAACTCCAACAGCTTCATATGGACAGATGGACTTCAAATGCTGTTTGTATTCCAGAGACTAGGTAAGGACCAGAGCAAGGTCAGGCCTCTCTCAGGTCCCACATGTGTCTCTTTCAGTGAGGGCCTTGATGCTGGCTTCCCAGACCTGTCCCAGCTGGCTTGGGATGGTTGTGACAGCCACACCAGGAACAGGAGGGATTACTGCCCCTGCCCTTGCTAGAAGACTATGGGAAATGAGGAGGCAGGGCTGCCCAGCCTCATTAGGTTCTGTTCTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCTGTGGCGCTATCTCAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTGTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTGACCTCATGATCCGCCTGCCTCTGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCAGGTTCTGTTCTTAACCTGAAATGATACTCAGGAGCACCCCTGAGGCTTCTCTTCTGCTTCCTCCCCACAGCAGTAGTGTTGTACTGCTACTTCTATAAACGGACAGCCGTAAGACTAGGCGATCCTCACTTCTACCAGGACTCTTTGTGGCTGCGCAAGGAGTTCATGCAAGTTCGAAGGTGACCTCTTGTCACACTGATGGATACTTTTCCTTCCTGATAGAAGCCACATTTGCTGCTTTGCAGGGAGAGTTGGCCCTATGCATGGGCAAACAGCTGGACTTTCCAAGGAAGGTTCAGACTAGCTGTGTTCAGCATTCAAGAAGGAAGATCCTCCCTCTTGCACAATTAGAGTGTCCCCATCGGTCTCCAGTGCGGCATCCCTTCCTTGCCTTCTACCTCTGTTCCACCCCCTTTCCTTCCTTTCCTCTCTGTACCATTCATTCTCCCTGACCGGCCTTTCTTGCCGAGGGTTCTGTGGCTCTTACCCTTGTGAAGCTTTTCCTTTAGCCTGGGACAGAAGGACCTCCCAGCCCCCAAAGGATCTCCCAGTGACCAAAGGATGCGAAGAGTGATAGTTACGTGCTCCTGACTGATCACACCGCAGACATTTAGATTTTTATACCCAAGGCACTTTAAAAAAATGTTTTATAAATAGAGAATAAATTGAATTCTTGTTCCATAAATGGGGGAGTCTGTCTGTCTAGCTAGATCTCTTCATGTTAAGAGGCGTGCCAAGGTCCAGCTTAACATCTACTTGACCCAGAGGGAAGATGGAGCCACAGATGAAATACAGATCTTTGTTGAGATCCATTATGAGTACAAAGTATTTTAGCAGAAATTCAAGATGGAATCTGATGCTGCATCCCCCACTCCTGGAGCTCCAGATGTGTGTGCTCTGTTCAGACTCTCTTTCCTTATCAGAAGCCTTAACTGCCCTCAGAAGAATAAAAATATTCCCTTAGCCAGCTTTGGCAAAAGAAATTTTTAAAATTCTTATGTCCGTAGTATCAGTTTTCTATTGCCAGAATATTGTGTAACTCCACCACCAAAGTTCAGGGGCATACAGCAATCAACAGCTGCCTGGCTCTTTGTCTTGGGGTTCAGCTGATCAAGGCTGTGTGTGGGTGGTTTCATCTGGGCTCACTCTTGTGTCTGTCAGCTGCAGGTCAGCTAGGCAGCTGCGATGGCCTTGGGATCCACTGGCAGTTGGCTAGCCTTCATTGACCTCAGCTGGAGTGACTGTGGTTACTCAGCTCTAGTTTGCAGATTTACTTCCCACAGACTAGCCTGGATCTGCTCACACGCCAGTGGCAGAGCGGGAAAGTCCCAGTATGCAACCCCATTTCAAGCCTGTGCTTGTCTTGTGTCTCCTAGACTCCTGTTGATCAAGGCAAGTCACGCAACTAAGCCCAGAAACAAAGTGGCAAACGGTTACCAACCACAAGTTCTTAGACTCTCATTGCTATAGAAATTGACATGAGGCTAAAAGAATTTGCCGACAAGGCTTCATTGGAGCTTATGCCTGGGCATAAGAGACACAACACAAGTCAAAGAGAGAGTTCCCTGACTGACTCCAAACAAAGCCTGCAGGGATTTTTCTCTTAGGCAAAGCACTGGAATTGACCTCGGGTAGGGTAGGCAGGCTGGGCTGGACAAAGCACGTGAGGGTAGGGTGTGCAGGTCAGCATCTGGTTGTAAGGGTTATCTTGAATAATGGACCACCAGGTAGTCTAGCCAATGGCAGCAAATCTGTATTCTTTCCTGAGGAGGGACAGTCCACACACAATGTTGGTTTGATATTTTGGACCTCCTAAGGCCAGTTCCTGGAATTCTTTAAGTAAAAGGCCTGGTTAAACATTGTGAGAGCACAGAAGATGAATACAAAATGGCGATTTTCTTTGTATGACTAAAGCGTTGATGATAGTGGATACATCAGCAAGGTAGAGGGGTGGGTTTTGTGGTCAGTGGGGATGCATGAAAGGATGCTGTAGTGGGGGTGAGCTGAAGCCACACCCTGTCTCTACTCTGTCTCAAAAGCACTACAAATTTTCAAGGGCAAAGGCATGGATACAGAGAGAGTAAAGAATGGGGGCCATTAATTCACCCAGTCTCTCACACC
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Task1_train_15855
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This variant affects the gene TMEM216 (transmembrane protein 216) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Familial aplasia of the vermis
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCACCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15856
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A change on Chromosome 11 affects gene TMEM216 (transmembrane protein 216). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Joubert syndrome 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCACCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15857
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This variant affects the gene TMEM216 (transmembrane protein 216) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Meckel syndrome, type 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCACCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15858
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This mutation occurs in TMEM216 (transmembrane protein 216) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Meckel syndrome, type 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCACCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15859
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Gene TMEM216 (transmembrane protein 216) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Joubert syndrome 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCACCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15860
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The variant affects gene TMEM216 (transmembrane protein 216), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Inborn genetic diseases
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15861
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Consider a variant on Chromosome 11 in gene TMEM216 (transmembrane protein 216). Determine its clinical classification and disease relevance.
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Pathogenic; Meckel syndrome, type 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15862
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This alteration occurs within gene TMEM216 (transmembrane protein 216) located on Chromosome 11. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial aplasia of the vermis
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15863
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A genomic change on Chromosome 11 affects TMEM216 (transmembrane protein 216). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Joubert syndrome 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15864
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This sequence change occurs on Chromosome 11, altering TMEM216 (transmembrane protein 216). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Meckel syndrome, type 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15865
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Assess the clinical impact of this variant on gene TMEM216 (transmembrane protein 216), found on Chromosome 11. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Joubert syndrome 2
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15866
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Gene TMEM216 (transmembrane protein 216), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; TMEM216-related disorder
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCGCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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CCTGACCTCAGGTGATCCATCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTAAGCCCGGCCAGCAACACGCTTTTACCGCTGCAAATCCGGATCAGGCAGGCTTTGAAGCCCAGCTCACAGGCCGTCTCTTGGAAACTAACTTAGATTTCCACCTGGGAGCACTTTGTCCTCTCAGCTCCCACTGCACCACTTTATGGATCGCGTGGTGACTCGTTTCATTTTATTTATGTGTGTTCCTGGAAAGGACGCTCTATTTCCTTCGTGTCTCTACCTGGTAGGTAAATCGGCCGCAGAAAAGACCAATGCTAACTCCACCCTGCATTTGCAGAGATCCGTCGCTCACACCTTTTCTTGTCTTCCGTTGAAAAAAGAGAATCGTGGGAGTAGGACCTATTTGCCAATCTCCTGGTAACACTATCACAACTGGCCACTTCCGCCCAACGCCCGGTAGTCTGAGAGCCTCCAAGGTCCTCCCCCGCACCCCTGAGGTCCTGCAGACGACGGCGTCGTGGGTGGTCACCGTTATCCCTTAGGTCTGGAGAGGGGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTCGTCCAGCTCCGGGTGACCACAGAGTGCCGCGGGCGGGCAGAGGGGCCGGAAACCCAGGCCGCTTCGTCCCTGTTTCCGGCAGCGCCGCGCTGCTCCGGGAGCCGCTGTGGCAGCGTATGCTGCCACGGGGACTGAAGATGGCGCCGCGAGGTGAGATTCCGGAGGTGTGTGAGTCGCTGGTCCCTTTCCCTTCGGTCGCTCCCTCCCACCTCTGTCCCAGAGCTTGACCTAAACCCTCCATTCTCTAGCGTTAGGGACGTCGCGCCTCCCTGGTCCAAAGCCGGCTTCCGCGGTCCCGCCCACCCTGGGTGCCTGAAGGTCTCAAGGTGCACAGCTCAAATAAACGCAGATCCTTGGCTGGGCCACTTCTAGGCTGGCTCAGGTGCGAATCTGTTGGTCTCTGCGCCCCAACTTCCCCTCCCAAATAGTGACAGAGTGAGATCTTTGAGATGTCTGTCAGCTGCGAGTTACCTCTTGACTTTTATTCCTGAAGCCGAAGAGTCGAGTTTCACGGTGATTCCTAGGAAAGGAGGGAAGCCCCCTCCACTCCCACCCCCGTACCCTCGCCCCCTCATTATCAGCAACCAGAAGTGCCCCTGAGTGGCCGGTCCCATTAGTTGCAGCGTCTAGTTTCCCCAAAGTTAGACACCAACCCATACGAGCAGAGAGGGAGCTGCCTTCCGGCCCATCCCACTTCTCTGTGCTCCTTTTTCAGGTAAACGGTTGTCCTCCACCCCGCTGGAAATCCTGTTCTTTCTGAACGGGTGGTATAATGCTACCTATTTCCTGCTGGAACTTTTCATATTTCTGTATAAAGGTAAGGAAGGCTTGGGGCTTGACGACAGCATCCCTTCCCCACTTCAGCTCAGAGCCAATTCCTACCAAGAACCTTCTTATTTTCCGTTCTTTTCTGCCCCCTGCAGTTCTTTGTCGCTGCAAGGCAGGCCTCCTCATCAGATGGCTTCTTTGAGTATGATTCCATAGGCAGCCCCTCAGCAAGAATTTCTTGAGTTTGAGAAATGTGGGCTTCTCCATTCTGACTCTGCCCACATCACTGCTCTTTGCTGAGCTCCACTGTAAGCCCACTGGTGACCCTTAGAAACTATTCAGTGGCCTGTGTACCCATGTACATCCAATCATTTTGGAGAGTGGAGTCCCCAGAGACTTTTGGAGTTAGGAGTAAAACACCATAATAATGAGCCTGAGTCGCATTGTGAGTTTATGTATCCTGCTGCTGTAATAATGCCCACATCTCACTAACTAGTTCATGGAAAGCTGAGACTGATGTCCTCTTTTTTCCCAAGTGTGTGGCAGTTCTTGTGGGTGCTGTTATATGCTGTTTGCAAACTCTGGCTTTTGTATTGGCAGGTGTCCTGCTACCATATCCAACAGCTAACCTAGTACTGGATGTGGTGATGCTCCTCCTTTATCTTGGAATTGAAGTAATTCTCCTGTTTTTTGGTAAGTGTTGTCCAGAGAATATTTCCACTCCTTATGAGACAAGCTGGTATCTGTAACTTGATTAACAAGAAAAGTACATAACCTAGGTTGACTATCATAGACTGGATCTGTATATCCTATTACTCCGTCTCTGAAGTTTCAAGTTGCTGCTTCATACATTGGGTCAAGATTTACCTGTTTGTTGCTCTGTAAGGCTAGAGATGGGCAATAGAATGGGATATTAGATGATTCCTTCCCAGCTGCCTAACTGCAAGAAGAGTGCTTGGTTCTTCTCACTAGTATTCTTAGGGGAATAGGTTCAGTTGTAACTCCACGTCAGGGCAGGCAGTGTATCCTGTACAGATCAGTACTAAGATCCCTAACAATTCTCTGAATAAGGATCTCTGTAGGAGTTTTTTGTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAGGCTGGAGTGCAATGGCACGATCTCGGATCACTGCAATCTCTGCCTCCCGGGATCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGCACCACTGCTCCCAGCTAATTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCTGCCTGTGTCGGCCTCCCAAGGTGGTGGGATTACAAATGTGGGCCACTGCACCTGGTTGGATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCTGGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTGCAGGCGCCTGCCACCATGCCCGGCAAGTTTTTATATTTTTAGTAGAGATAGAGTTTCACCATGTTGGCTAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCATCACACCTGGCCAGATTTTGTTTTTTAAACATTTATTTATTTGAGACAGGGTCTCATTCTGTCACCTAGGCTGTAGTACAGTGGTACGATCATAGCTCACAGCAGCCTTGAAGCCCTGGGCTCAAGCAGTCCTCCAACTTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTGCGACATCATACCTGGCTAATTTTGTGTTTTTTGTAGAGACAGTGTCTTGCCTTGTTGCCCAGGCTGGTCTGAAGCTCCTGGCCTCAAGCAATCTTCCTGCCTTGGCCTCCCCAAGGTGCTGGGATTACAGGCGTGAGCCAACATGCCTGGCCTGTAGGACAAGTTTTATAACCCCAGAAATACAGAGCAAAACCCTTATTTGTTAGAATATGTCATCCCTGAAATCAACGTTAAAGCACAAACTTAGGAACAAAATTACTTGCAACATATAAGAAAGGATAAAAGAAGGCTCACATAAATCACTAAGGAAAAAACAAAATAACTTTAAAAATTGGCTGGGCGCAGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATTTGAGGTGAAGAGTTTGAGACCAGCTTGGCCAACATGGTGGCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCGCGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCCCACTGCACTCTAGCCTGGGCGACAAAGTGAGACTCAAAAAAAAAAAAAAATTGGTAAGGGACATTAATGGCAGTTCATGTAAAAATAATTACAGAGAACCAGTAAAACTTGACAAGATGCTCAAACTCGCTAATAAAAATCAAATTGAAACAAAGTAACATTTTTTACCCATCAGACTGGCAAAGAAAGATTTATAACACCCAGTATTAGGGTGTGGGGAACAGGTTGTTATACACTTTTGTGGTAATTTAATTTAGTACAACTCTTGGGTAGTAGTTATTACTGTGTAATGTTTTACTGTTAGCCCCAACAATTTCAC
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Task1_train_15867
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This variant affects the gene SDHAF2 (succinate dehydrogenase complex assembly factor 2) found on Chromosome 11. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary cancer-predisposing syndrome
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGAGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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Task1_train_15868
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A genetic alteration is present in SDHAF2 (succinate dehydrogenase complex assembly factor 2) on Chromosome 11. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Hereditary pheochromocytoma-paraganglioma
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGAGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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Task1_train_15869
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This sequence change occurs on Chromosome 11, altering SDHAF2 (succinate dehydrogenase complex assembly factor 2). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Paragangliomas 2
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGGGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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TCAGTGCCCCAAGCTGGGCAAGACAGAAACCAGTCCCTCTGGTAGCTTCCCCAAAGGACAGAATGTTACGACTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGACGGGCGTGGTGGGGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATTGCTTGATCCTGGGAGGCGGAGGTTGTGGTGAGCCGAGATCGCGCCATTGCACTCTAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGTCAGAATATTAGATGCACACTCCACTCCCCTCAACCCTGGGAGAGGCCACTGGGCTGTATTGGCCTTTCTCTGCAGTTTCAGGGATCCTCTGGATCAGCAGCAGGCCACCCAGGCATTTAGAGTGTGCTAGATCCTTTCAAGTGCTTAGAGACAGAAACCAGTCCCCCAGAGAGCCCCAAAAAGCTAGAATGTTGGATGCATACTGCACCTGTTTCCCTCCCTAGGGAGAAGCTGGGAGGTGGGAGTTTTCTCCTGCTTGTTCTGCACTGAGCCAAGGATGAGTGATGAGGGAGTGAGTGCTTGCCAGTCTAAACTGTCACCTTTGTTCTCCATGGTTCTTTGTTCTCCCTCAACCTGCTGCCCTTTTCTGTTAGCACTTAGATTCAAACAAAACAGAAACCTGATCCCCCCAAAAGTCCGAACATTATACATACTTTTCAGTCTTCTCTTTCTGTCTCAGGTAGAAGCTAGGAGCTGGGGGTTATCTCATGATCATGCTTGAGCAGGGAGGGAAGAGACTATGGCAAATGAGTGCTACAAATTTTTCTGCTGGATTCGATGCAGCTGGTTTTGTGCTCACCTGGGGAGCAGGAGCCTCTTACTGGTTTCTGGATTTCTCACAGGGAATTGGTTTGTTTGTTGCTGTTGGCTCAGTGTCTCCATCGGGGAAGGAGGATCTGGGGTTTCCTACTCCACCATCTTCACCTCTTGCTGAGGTCACCACCTTGACATCATATCTTGATAAGTTGTCAACTTCTCTGGATTGGGAGCCTTTGGGGGATTAGGGATCATGCTGTCTCTGTGTGCTCAGGATTTGACACAGGTGAGTGAGTAGAGTATAAACCACACTGTAAGAATTTTAAGGGAGTGCAAAGGAAGGAAAAATTATTTCTGCTGGGATAGTTTCTGGAAAGGCACTGGTTAGGGACACATTTGCAGTTAGGACTGTGTTTTAATTCTAATTGCAGTTACTATTTGGATGATTTTGGGTGAGTTATTGAACCTTCCTGAGCCTCTGTTTCCTTGGCTATAAAGTGGGGACAATATCAGCATAATTTCTTTTCTTTTTTCAGGGGGATAGGGTCCGTTGCCCAGGCTGGAATGCAGTGGTACGATCACAGCTCACTGCAGCGTTGACCTTCCCAGGCTCAGATGATCTTCCCACTTCAGCCTCCTGAGTAGCTGGGACCACAGGCACCATGGTGGGACTACCCCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTCTCGCTATGTTGCTCAGGCTGGTCTCGAACTCCTGAACTCAAGTAATCATGCTCGCGTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACCACGCCTGGCCAGCAGTGTAATTTCCTCATGACTAAATGTGATTGAATGCATTCAGCACCTAGTAAGCATTGAGTAAATGATAGCGATGATAGTCGTCATTATTGTAAAGATGTTTGTGGTTTGTTCATTTCAGATGCTTGCTCTGTCAAGGCACAGCCTATTGTCTCCTTTGCTCAGTGTGACATCATTCAGACGCTTCTACAGAGGTGACAGCCCAACAGATTCCCAAAAGGACATGATTGAAATCCCTTTGCCTCCATGGCAGGAGAGAACTGATGAATCCATAGAAACCAAAAGAGCCCGCCTGCTCTATGAGAGCAGAAAGAGGAGAATGTTGGAAAACTGCATTCTTCTTAGGTATGGGACTAGGAGTCTTTTTTTTTAAATCGGGCAGCTTCCTGAGCCAGAGTAGGTTCAGAGAGACTCCCAGGAGTAGGAGTCTTGGTGTCACTTCTCTTTTATTAGACACAGCCTTCTCAACCTCTTTTTCTTTTTTTCTTTCTTGTTTTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTCTATGACCGCCTGATTAACGAGCCTAGTAATGACTGGGATATTTACTACTGGGCCACAGGTACTGGGTATGATAAGCAGCATAATGTGAAAATAGGACAGTTTAGGCTGATTTGAGTCTAGAATTGTATCCTAGATAATTTTTTTCTTTCTTTTTTTTTTTTGAGACTGAGTTTCACTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGCAACCTCTACCTTCCAGGTTCAAGCGATTCTCCAGCCTCAGCCTCCTGAGTACCTGGGATTACAGGCATGTGTCACCACACCCGGGTAATTTTATATTTTTAATAGAGACAGGGTTTCTCTGTGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAATCCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTTATAATTTTTTTCTTTTATTCATGAAGTAGACACTCAACCCAAACACTGTTCAAATTTTTGTTAAGTGTACAAAATTTATCAGTTAAAGTTCTTTATTTGCGAGACAGAGTGGAAACTTGTTTGTCTCACTTAAGCAAAAAGGAATTTAGTGGAAGGGTATATGAAGCTCACAGTATCAAAGGTTGAAGAAGAACCACTCTGGGAATGGAGTGGAATCAGACAACTAAGTCTGCATAGCCAAAGCTCCTCAATAGTTTCATTCTGGCCGGCCGCAGTGGCTCATGCCTCTAATCTGAGCACTTTGGGAGGCTGAGGCGGATGGATCGCTTGAGGTTAGGAGCTTGAGAGCAGCCTGGCCAACACAGCGAAACCTCATCTCTCCAAAAATTCAAAAATTAGCCGAACATGGTGGCGGACAACTGCAGTCTCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAGCCTGGGAGACAGAGATTGCAGTGAGCTGAGATTGCACCACTGCACTCCATCCTGGGCAAAAGAGTGAGACTATGTCTCAAAAAAAAAAAAGTTTCATTCAGGCACTACCTTTATGAGGAATGAATTCTAACTGTGTATAGTTAGGATTAACTTTGGCTATGAGTAAAAAAACATCCAAAACAGTAATGGCTTAAACAAGGTAGAACTGTCTTTCTCATGACAGAAGTCCAGAGGAAGGCACACTCCAGAGCTCATAGAGGGGCTTCAAAAAGTCATGGGTCCAGGTCCCCCCTACTTGCTGCTCTTTCATCCTAGCATGTGTTTTCTACTTCTTGATCCAGGACAGCCATATTTCAGCCCGGAAAAAGTGTGTGGAAGTGCATACCCCTCCTTTGTAGATCCCGCTCAGGAAATTATCCAGCATACTTCCACTTATTTGCCATTGGCCACAGCTTAGTTACTTGGCTACGTCTAACCATAAGGAAAAATAATATAGTCTATTCCATCTGCCCAGCTGTGTTGGAGATTCTGTTATCGATGAAAACTGGATATTAGGGGACGTGTCATTCATTCTGCCACACTCCGGGACTGCTGTTTTTGTGTCTCCACTCAATATTTGTATCAGAAAGTAGCAGCCATTGTCTATGGGTTCCAGGTATGAAGAGTGATAAGACAGAGTCTGGAGCCTTATACAATCACTGGAAAGCCAACAAAGTCCAAATATTTACTCTCCAACCCTTTACAGAACAAGTTTGCCCTGACTTAGCATAATGCATTTGAGATGCGTATCCTTGTTGTTACTTGTATCAATAGTTCATTCTTTTGTGTTGAGTAATATTCCATTGTGTGGATGTACCATGGTCTGTTCATCTTTTGACCAGCTGAGGGACATTAGGATTATT
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Task1_train_15870
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A variant has been detected on Chromosome 11 in MYRF (myelin regulatory factor). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
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CCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGGGGAGGATCCGGTCAGAGGCTGCCTGAGCATTCCTAGCACCCCCTCAACACCCAGATGGCTCCATCTTTCCAGGCCGCAGGCCGGGAGCCCTGTGGGGACCACTCCCCTGGCTCACCCAGAAGGCCAGTGGGCAGGTGACAGGGTAACTGTGGATATTGCCAGGCCTGGGCCAGTGGATTAGACCAGCTGCATGGAGTTGGGTGCTCCAGGCTTTGGGGGAATTCTTAGCCAGCAGTCCCAGGCCTGGGGGCATCTGGCTGCTGGGGTGGCTGAAGGGTCCCATGAAGTCCTGCCAGGTGGGGGTGCAGTCGTATGGCACTCCAGCCTCTCTGGCATGGGGAGGAAACCCCTTACTCTTACTGCCATACTCTTTGGGCCACCCTTGCCACCCCAGGCCCCAAGGCCAGGAAGCTTGGCAGCTGCAGCCCCGGAAGTGGCCCAGGCACTTCCTGGGTGCTTTGCTAGGTCAGGCAGGTGGGTGGAGCTCCAGGAGGGAAGAGGTGGTGAGCCCAGGCCTTTGGCAACACTGGCCAGGCCCAGAGGCCTCTTCCCACAAGTTTGGAAGCATTCTCCCTGCCCAGCTTCCGCCAGGCCAGCACTGGGCACTCCTGTGACCACTCTTGTGCCTGGGGACCTGAGTGAGGGTGCGCTAAGCCACAGGCCAACAGTTGCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGGCTGATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCAGTTGCTCTTTTTACTGTCAACTAGAGGTGTCTCAAAGGGGCCAAACATGGGACACTAAACCCAGCAACAGATGGGCAAACTGAGGCTGAGTCTGAGGGAGAGTCCAGGAGTGCCCCTTCCCTCCCCGGGCAGACGGAGGGAGTAGGAATGAGGAGGGAGTGGGAATGAGGGCATCTGGGGGCTTGAGCAAGCCGGTGGGCAGGGGCTGGGTCTGCAGCAGAGCAGGCGCCTGGTTCCACCGTTTCCAGGGCAACTAGCTGTCAGGCGCTGTGAGGCTCTGCAGACACAGTCCCTCTCGGGTGAGTGAGGGGGCTTCAGGCAGCCTTCTGGGAAGGAGCCGAGTGTGGGGAGGGCAGTCAAGCCCTCCCCCACTCAGGAGTTCCCTCCAGTCTGGTGGGCCTCAGGGTCTGGCCCTGCTTCCCCCATCACCAGGGCGGGGCGGTGGCCTAAGGCATGGGGTATAGGAGAGAATGTTGTCTGAGGAGTTTGCAGCCCTGTACTAGAATCCTCTCCGGGACTCAGTTTCCATTTCTCAGGAGTGGGGGCAGCCGCATTGGTGGTTTGAGGATGCAGGGGTGTGGTGTGGGAAATGGTTTTGGAACCCAGCAGGTAGGAGGAACCGATGTTCCAGGCCCGGCTCTGGGGCCTCAGGGGAGTGCCCTCACCCGCCCCCCCAGGCCCATGCTCACCTACCGCGTGGATGCGGACAAGGGCTTCAACTTTTCGGTGGGCGACGACGCCTTTGTGTGCCAGAAGAAGAACCACTTCCAGGTGACAGTGTACATCGGCATGCTGGGCGAGCCCAAGTACGTCAAGACGCCCGAGGGCCTCAAGCCCCTCGACTGCTTCTATCTGAAGCTGCACGGAGTGAAGGCAAGTTTGGGGCTCAGCAAGGAAGGGAGGGCAGGAGGGCCCTTTGGGGGCACTGAAAGACCCCAGAAAAAGCAAGCGTTGGCTGGATGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTATACTAAAAATACAAAAATTAGCCAGGCGTGGTAGTACGGGCCTGTAATCTCAGCTACTTGGGAAGCTGAGGCAGGCAGGAAAATCCTTTGAACCCGGGAGGCGGAGGTTGTAGGGGGCTGAGATCACGCCACTGCACTCCAGCCTGGCAACAGAGCGGGACTTCATCTCAAAAAAAAAAAAGAAAAAAAAAAAAGCAAGCATCTGTGTGCGTGTGTGTGTGTATGTGTGTGTAAACTCCCCCACTGCTACTGCCACCCCGCCCTCCCGCCTTTTATCCCTGTGCCTGCCCCTCAGCCTGCCTCCCCCTCGCCCTGCGCCTGCCTCCCTCTTGTTGGGCTCATCAACCTGCCTCCCTGCCTCCCTTTCGCCCTGTGCCTGCCCCTTAAACGTTAGACTCCTCAGCCTGCTTCCCTCTCGTTGGGCACCTTACCCTGACTCTGTGCCTCCTTGCCTCCCTGCCTCCCTCTCGCCCCGTTTCCTGCTCCAGCCTGTGATTCCCAAGTCTGCAACCCCAGTCAAGACCCATCTCCTGGGCCCTCTACCAGGTGCCTCAGCTCCAGGTCCCAAACTAAACTCCCTGCACACTTGCCTCCCACCCTGGGCTCCCCTCTCAGGGAATGGGGCGCAGGGCCTTGGTTACCTGAGCCGCAAATCTGGGTCAGGGCCCTCTTTCCCCAACCTCATCATGCATCTGGCCTTGCTATTGCCCTGGAAGATCCCTCTACCTGGTCCGGTCCTCGCCTCTTTCCTGTCCATCCCCTGGTCTGGGTTACCTCCCTTCCTTGTCGGAATGTCCACAGCAGCTGGGACCCCCAACTCCTGCCCCACTTGAGACTCAGGGGGCCACAGCACTCCCTATCCTTCCAAGGCCCCCAGTGTCCTCCCAGCAAAGCCCCGGCTTCCAAGCTGCACCACGGGGGCCTTGGGGGCCCTGCCCTCCGCTCCAGCTCTGCCACTTGTGGTACCATCGCAGCCCCCGCCCTCCACCCTGTGGCTCCCTTTGCCTTGGATGCCCTTCCCAACACCCATCCCTCCTCTCCAGGCAGACTCCATGCTGGTCCCCTCCCCAGGGGCCCCTCCCCTAAGACCCATTGGGAGGCACCACAGCACAACCCCAGTAGTGGCTGATTTTGAGTCTATGAGCTCCCTGTGGGCATGGCTGGGTCTGTCGGCTTCGGTGTGATGAGTGAGCCAGGCATGGTACCTTGGCATGGCTCTGCCAGTGCACGTGGAGGAGTAGAGGAGACGTGGGTATGGAGAGGATCTGGGGAGTGAGTGGGCCTAGGTGCAAGTGGATGGGCTTGGAGGCTGCTGTGAGGTGTGTGGGTATGGACATGAGGGAGGGTGGGGCTGTGAGTGTGTGTGTGTGTCTGTGTGTGAGTGCATACATGCAGAGGTGGGGGGAGCGTGTGGGTGTGGAATGGGGGTGTGGGTGTTTGGGGAGTGACTGCATGCGTAGCTGTGCAGAAGTTGGGGGAGTGGTATGCTGTGAGGGGTGAGGAGGGTGTGGGTGTGAAGTAGGGTGTGGGGGGGTGTGACCATGCAGAAGGCATCTGAGCTTGTGGGAATCGCGGCTGAGGGCTGGGTGCTGCCCTGTTTCCTGGTGAGCTCTAGTTGGGCCAGGCCTGGCTGAGAGGGGGCAGGAGGGCAGGACCAGCCGGGTAGCCCCATCCTGAGGTGCCACTGGCTTCACTCCCCACAGCTGGAGGCCCTGAACCAGTCCATTAACATCGAGCAGTCCCAGTCAGACCGG
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CCCAGGACCCCATCAAGGTCCTGGAGCAGGGCCTGGGAGCACTCATTTCACAGAAGAGCAAACAGGCTCAGGGAAGAGCCAGGACTGGCAGTCAGGGCTCCTGACTCCTAGGCCAGCCCCAGGCCTCCCTGAGAAGGTGATGACTGCCAGGGAGGGGCAGCTGGGAACCAAGTCAGGGAGAAGTGGGCAGATGGGTGTTTTTTCCCCCGGTTCCTCCTTCCCCACCTCCTCCCTCTGCATTCCAGGAAGGTAGCCGGAAGCTGAGCCCAAGCTGGGCCCTCCCGGCAGCCCCCTCCCTAGAGGGAGGGAGGAGGGGCTGGGGAGGATCCGGTCAGAGGCTGCCTGAGCATTCCTAGCACCCCCTCAACACCCAGATGGCTCCATCTTTCCAGGCCGCAGGCCGGGAGCCCTGTGGGGACCACTCCCCTGGCTCACCCAGAAGGCCAGTGGGCAGGTGACAGGGTAACTGTGGATATTGCCAGGCCTGGGCCAGTGGATTAGACCAGCTGCATGGAGTTGGGTGCTCCAGGCTTTGGGGGAATTCTTAGCCAGCAGTCCCAGGCCTGGGGGCATCTGGCTGCTGGGGTGGCTGAAGGGTCCCATGAAGTCCTGCCAGGTGGGGGTGCAGTCGTATGGCACTCCAGCCTCTCTGGCATGGGGAGGAAACCCCTTACTCTTACTGCCATACTCTTTGGGCCACCCTTGCCACCCCAGGCCCCAAGGCCAGGAAGCTTGGCAGCTGCAGCCCCGGAAGTGGCCCAGGCACTTCCTGGGTGCTTTGCTAGGTCAGGCAGGTGGGTGGAGCTCCAGGAGGGAAGAGGTGGTGAGCCCAGGCCTTTGGCAACACTGGCCAGGCCCAGAGGCCTCTTCCCACAAGTTTGGAAGCATTCTCCCTGCCCAGCTTCCGCCAGGCCAGCACTGGGCACTCCTGTGACCACTCTTGTGCCTGGGGACCTGAGTGAGGGTGCGCTAAGCCACAGGCCAACAGTTGCTCTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCTGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGGCTGATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCAGTTGCTCTTTTTACTGTCAACTAGAGGTGTCTCAAAGGGGCCAAACATGGGACACTAAACCCAGCAACAGATGGGCAAACTGAGGCTGAGTCTGAGGGAGAGTCCAGGAGTGCCCCTTCCCTCCCCGGGCAGACGGAGGGAGTAGGAATGAGGAGGGAGTGGGAATGAGGGCATCTGGGGGCTTGAGCAAGCCGGTGGGCAGGGGCTGGGTCTGCAGCAGAGCAGGCGCCTGGTTCCACCGTTTCCAGGGCAACTAGCTGTCAGGCGCTGTGAGGCTCTGCAGACACAGTCCCTCTCGGGTGAGTGAGGGGGCTTCAGGCAGCCTTCTGGGAAGGAGCCGAGTGTGGGGAGGGCAGTCAAGCCCTCCCCCACTCAGGAGTTCCCTCCAGTCTGGTGGGCCTCAGGGTCTGGCCCTGCTTCCCCCATCACCAGGGCGGGGCGGTGGCCTAAGGCATGGGGTATAGGAGAGAATGTTGTCTGAGGAGTTTGCAGCCCTGTACTAGAATCCTCTCCGGGACTCAGTTTCCATTTCTCAGGAGTGGGGGCAGCCGCATTGGTGGTTTGAGGATGCAGGGGTGTGGTGTGGGAAATGGTTTTGGAACCCAGCAGGTAGGAGGAACCGATGTTCCAGGCCCGGCTCTGGGGCCTCAGGGGAGTGCCCTCACCCGCCCCCCCAGGCCCATGCTCACCTACCGCGTGGATGCGGACAAGGGCTTCAACTTTTCGGTGGGCGACGACGCCTTTGTGTGCCAGAAGAAGAACCACTTCCGGGTGACAGTGTACATCGGCATGCTGGGCGAGCCCAAGTACGTCAAGACGCCCGAGGGCCTCAAGCCCCTCGACTGCTTCTATCTGAAGCTGCACGGAGTGAAGGCAAGTTTGGGGCTCAGCAAGGAAGGGAGGGCAGGAGGGCCCTTTGGGGGCACTGAAAGACCCCAGAAAAAGCAAGCGTTGGCTGGATGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTATCTATACTAAAAATACAAAAATTAGCCAGGCGTGGTAGTACGGGCCTGTAATCTCAGCTACTTGGGAAGCTGAGGCAGGCAGGAAAATCCTTTGAACCCGGGAGGCGGAGGTTGTAGGGGGCTGAGATCACGCCACTGCACTCCAGCCTGGCAACAGAGCGGGACTTCATCTCAAAAAAAAAAAAGAAAAAAAAAAAAGCAAGCATCTGTGTGCGTGTGTGTGTGTATGTGTGTGTAAACTCCCCCACTGCTACTGCCACCCCGCCCTCCCGCCTTTTATCCCTGTGCCTGCCCCTCAGCCTGCCTCCCCCTCGCCCTGCGCCTGCCTCCCTCTTGTTGGGCTCATCAACCTGCCTCCCTGCCTCCCTTTCGCCCTGTGCCTGCCCCTTAAACGTTAGACTCCTCAGCCTGCTTCCCTCTCGTTGGGCACCTTACCCTGACTCTGTGCCTCCTTGCCTCCCTGCCTCCCTCTCGCCCCGTTTCCTGCTCCAGCCTGTGATTCCCAAGTCTGCAACCCCAGTCAAGACCCATCTCCTGGGCCCTCTACCAGGTGCCTCAGCTCCAGGTCCCAAACTAAACTCCCTGCACACTTGCCTCCCACCCTGGGCTCCCCTCTCAGGGAATGGGGCGCAGGGCCTTGGTTACCTGAGCCGCAAATCTGGGTCAGGGCCCTCTTTCCCCAACCTCATCATGCATCTGGCCTTGCTATTGCCCTGGAAGATCCCTCTACCTGGTCCGGTCCTCGCCTCTTTCCTGTCCATCCCCTGGTCTGGGTTACCTCCCTTCCTTGTCGGAATGTCCACAGCAGCTGGGACCCCCAACTCCTGCCCCACTTGAGACTCAGGGGGCCACAGCACTCCCTATCCTTCCAAGGCCCCCAGTGTCCTCCCAGCAAAGCCCCGGCTTCCAAGCTGCACCACGGGGGCCTTGGGGGCCCTGCCCTCCGCTCCAGCTCTGCCACTTGTGGTACCATCGCAGCCCCCGCCCTCCACCCTGTGGCTCCCTTTGCCTTGGATGCCCTTCCCAACACCCATCCCTCCTCTCCAGGCAGACTCCATGCTGGTCCCCTCCCCAGGGGCCCCTCCCCTAAGACCCATTGGGAGGCACCACAGCACAACCCCAGTAGTGGCTGATTTTGAGTCTATGAGCTCCCTGTGGGCATGGCTGGGTCTGTCGGCTTCGGTGTGATGAGTGAGCCAGGCATGGTACCTTGGCATGGCTCTGCCAGTGCACGTGGAGGAGTAGAGGAGACGTGGGTATGGAGAGGATCTGGGGAGTGAGTGGGCCTAGGTGCAAGTGGATGGGCTTGGAGGCTGCTGTGAGGTGTGTGGGTATGGACATGAGGGAGGGTGGGGCTGTGAGTGTGTGTGTGTGTCTGTGTGTGAGTGCATACATGCAGAGGTGGGGGGAGCGTGTGGGTGTGGAATGGGGGTGTGGGTGTTTGGGGAGTGACTGCATGCGTAGCTGTGCAGAAGTTGGGGGAGTGGTATGCTGTGAGGGGTGAGGAGGGTGTGGGTGTGAAGTAGGGTGTGGGGGGGTGTGACCATGCAGAAGGCATCTGAGCTTGTGGGAATCGCGGCTGAGGGCTGGGTGCTGCCCTGTTTCCTGGTGAGCTCTAGTTGGGCCAGGCCTGGCTGAGAGGGGGCAGGAGGGCAGGACCAGCCGGGTAGCCCCATCCTGAGGTGCCACTGGCTTCACTCCCCACAGCTGGAGGCCCTGAACCAGTCCATTAACATCGAGCAGTCCCAGTCAGACCGG
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Task1_train_15871
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A change on Chromosome 11 affects gene MYRF (myelin regulatory factor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Cardiac-urogenital syndrome
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CTGTGCCTGGTTCTATCCACAGGCCCCAGCCAGATGGCCCTTCTGCCAGTCACCAACATCAGAGCCAAGTCCTGGGGTCTTTCAGTCAATGGCATTGGCCACTCCAAGCATCACAAGAGTCTGGAGCCTCTGGCCAGCCCTGCAGTCCCCTTCCCTGGGGGGCAGGGCAAAGCCAAGAACAGTCCCAGCCTTGGTTTCCATGGCCGGGCCCGCCGAGGGGCCCTCCAGTCCAGCGTGGGCCCTGCTGAGCCCACCTGGGCCCAGGGCCAGTCAGGTACTTGCTGCACCCCTGACACTACCCAGCCCAGCCTGGCAAGGCTCACTGGCCAGGGCCCACCTCAGCCCAGTCATGTGACTGTCTGGGTTCAGACTTGTCAGTCAATAGACGTTTGCTGAGCACAGAATAAGGATCAGGAATCAGGCCTGCAGCCTTACATAGATCATCCCATTTAGTCCTCACAGCACTCCTGCAAGAAAGGAATTGTTGTTCCTATTGTTCAGCTGAAGAAATGGGATGGAGACTAAGGTGAAGTGACCTGCCCAGGGTTATACAGCCCCTCCGAGGCAGGGCTTGTATTTGATCCCGAGCCTGGCTCCTCCTTCGCCATGCCAGCACCAGGAGGGTGCTATACTGGGTCTCCCCTACTATTTCCCAAACCTTGGATCTTTGGTTTTAACAAAGCTACAGAACCTTTTATTGTAGTTTTCAAACTGGGTTCCTCTGAGGTACCCTGGGGGCTGCGCTGGGGGCTGCCCTGGGGGTTGAAGGGGAGGCTGGGAGGCTTCCTGGCTTCAACCAGGCAGCTCTGCTCTCACCAACTTTCATCTGATGGATTTTGTGGCTTCAAGAAAAAGAAAGCCTGGAAAATGTGGCTTACAGAGATGGAAATTCAATGTGATGGGGGAACCCCATGGGGGAGATGTTTGCCAGGCACCTGTTTACTGAGCTGCCTGCCACTCTGTGGCTGGCTCTGTACAGGGGACTGGGGGTGATGAAGATGGACACGCCCCTGTCCCCAAAGACCTCACAGAGATGAAAACACAGCAGTGTGATGAGGCTCTGAGGGGACATGCAGGTAGCTTTGGGACTGGGGAGGACACTTAATCCGGACGAAGGTGGGGAGGATCAGGGAAAACTTCTCTGGAGTTGGTGACATTTGAGCTGACTCTTTAAAGGACCTTTGGAATTTGCCCAGAAGGGATGTGGGAAGGGCACCTTCCATCTCGTCTGTATCTGATACCTGTCCTGACCACACAGGGTGTCCTGGATCCTGTTGGGGTCCTTGGGTCCCTGGGTCATGCCTCAGAGCTGAAAACGTACCAGGTCCAGCAAATGTTCAGCGGCCCCAGCTTCCCCCTTCCTGGGTGGATAGTCAGGCAGCAGCAAGACTGTATGTGAACTAGATGAGCAAGAAGTCCTGTCTCCCCCATCTGACTTGTCACACTTCAGTCCCACCCCTACCCAGCCAGCCAGCCTGCAGTCGGTTTGTTCAGGGAGGCTGCGAGGAGCAGCGTGCTGGTAGCGGTGTAATCATCGGCCTCGGGGCAGAGGGGAGCCTGATTTGTGTGATGCTGTCAACACTGCTGATTTCAAGCTACCAGTGTAACTGATGTTTCTGAACCCAGAACTGGGAGAGATGCCCGCAGTCAGGAACACAGGCCTCGAGCGGGCTCCTGCACACCTGGCAGGGGATGTGAAGACCCATCCCTACTTCTGGGTGTTCCAGTTCTTTTGAGGAGGCAGACGTCAGGCTCATGGGAACTGGGTAGTCCTAGGGCTGCTGAGGAAAGGGTGTAGTGTGATGCTGGCCATTGTGGAGGTCTGGAAAAAAATAACCTGGAACTTATTCATACTAAGGTGTGAGTGACTGCTTCAAGTCTGGCAAGGAAAGACTTGCCAGCTTCTCATTTGTGTCCTGCCTTGTCACCTTACTCCTGCCCCAACAGCCTCTCTCCTTGCAGAGCCAGTGCCCTCCCTGACCTCCATCCAGGTGCTGGAGAATTCGATGTCCATCACCTCCCAGTACTGTGCTCCAGGGGATGCCTGCAGGTGGGCTGGGCTCCCTCCCCTCACCCAGGGAGGTCCTCAGGTGACATGAGCCCAGGTGGTACAGATCACCCGGAACTTGCCCTTTCAGGGAGGAGCCTCCCCCATAAGGAAGGGTAGCCCCTTTCCAGGCTACCCTTGGACACTGTCTCTTCTGGAGGGCTCCAGTACAGATTGGGGGCTGAGGAGTCCCTGGTGGGGGTGGGGGGTGGCAGGGTACCCTCAGGCTAAGGTGCCAGTTTTGCCCCTGCAGGCCTGGGAACTTCACCTACCACATCCCTGTCAGTAGTGGCACCCCACTGCACCTCAGCCTGACTCTGCAGATGAAGTGAGTGCCGGTGTGGGGAAGTGGGAGGCAGGAGGGGAGCCAGGGAGAATCTCCCGCAGAGCCTCAGAACAGCCGAGTCTGAGGACAGCCGGAGAGTCTCTGGTATTTCCTGCATGGTGGGATAAGTGCTGACTTCATTGCCTACTTCGTGGTTAACTGGCTAAATGACCTGGCCTCATGGGCTGAGGACCACATGGGATGGTCGATGGGAAAGGTTTTGTTCGAGGGCCCTGGTTATTATGCGGTGTTTCAGGCTGGGTGGAGATTCAGAGGCGTGTGGCAGGCTGGCTGGGAGGGGGCTGGGGTTGAGGGACTCTAGAACCTCATTTCTCTGCTAACTGGGCCTGTCTACAGCTCCTCCTCCCCCGTGTCTGTGGTGCTGTGCAGCCTGAGGTCAAAGGAGGAACCATGTGAGGAGGGGAGCCTTCCACAGAGTCTCCACACCCACCAGGACACCCAGGTAGGTGGGACTGGGAAGCTGCGGGCCGGCCAGGCCCGAGCTGCTTCTCTCCTGGCACAACTGGGCCCCAAAATGGGCAAGGAGCAGAAGCTGGGAGTTATAGAGTAAAGCCTTCTCCACAAGGGACACTCTGGGGCCTGGGCCTCTGTGTCCCAGGGAGGGGCACGCGTGCCCGTGTTTGTTCATTGCACTCTGCTGAGCATCTCCCAGCCCTGCCGTGCTGGAGACGTGGGGAAGACAGCAGATCACAGGTGCTAATGTGGATGAGTGCAATGATGGAAACAGGCAGGTGTCTGGGAGCCCATGGCGGGGAGGGCTGTGGCTCACTGGAGGTGTCTGCAGAAGCAGGAAGGAGCCGACCTCATGCTCAGGTTGGGGAAGTGGCACAGCTAGATGTACAGCATCAGAGGGCCCCTCAGGTTCCATGTTTGGCCACCTCTTCTGGGAGAACTGGATGGTGAGCTCCTCCCTGGCCAGGTAACCGGAAGTTATGACTGTCCCTGGGGCTGATGGACCCCCAGTTTCTTCTTGAGCCTAAGAGGCCATGGGAGAAGACGCTCAGGACAAATGAAGGGAAGTAGTGATTATTTTTTCTTGCCCATTCATGTGTTTACTCAGAAAATATTGATTGGGGCCCCATCTGTCCCAGGCCCTGTGCTGGGTGGGCCTAGCTGCAGGGGAGAGAGGTGGAGTAGACACAGGTTTTGACTTCCAAGAACGTACTCTATAGTGAGGGAGAAAAGACGTGCAGAAAGCACCTGCAACAGAGGTGGGGGTGCTTCTGAGGGAGGCCCGAGCCCTGTCGCCCTGCAGAAGAGACAGGGTCCAAGACAGAGGGAGAGCCCAGCTAGACACACAGCAGACATGGTGCTCGGGCCTGAAACCACATCACAGACGCACAGCCAAAGCCTCAGGTAGATGGGCAAGCTGCCTGCAGCCAGGCTGCATGCCACCCTGTGAGGGAGACAGCCAGACAGACCTGGGTTTGAATCCCAGCTGTGTGATTTTGCCACACTGTGTGATTTTTAGGAAGTGGCTCAGTTTCCTCATCCAGAAGATGGGGCTAGTAGCAGCACTGTGTCACTGGATTGTACTGAGGATGGGGCTAATGAAATACTTTGATGTGCCCAGAGCATAGTGGGTGAGGGAACCCAGCACAACAGGACTGGGAAGGAGGCAGGGGCCAGGTGGAGGTGGCTGTGGACCTGCCAGTCCCGGGCACGGTCTGCATGGAGTAGCTGCCATTGCTCCTTCTGCCAAA
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CTGTGCCTGGTTCTATCCACAGGCCCCAGCCAGATGGCCCTTCTGCCAGTCACCAACATCAGAGCCAAGTCCTGGGGTCTTTCAGTCAATGGCATTGGCCACTCCAAGCATCACAAGAGTCTGGAGCCTCTGGCCAGCCCTGCAGTCCCCTTCCCTGGGGGGCAGGGCAAAGCCAAGAACAGTCCCAGCCTTGGTTTCCATGGCCGGGCCCGCCGAGGGGCCCTCCAGTCCAGCGTGGGCCCTGCTGAGCCCACCTGGGCCCAGGGCCAGTCAGGTACTTGCTGCACCCCTGACACTACCCAGCCCAGCCTGGCAAGGCTCACTGGCCAGGGCCCACCTCAGCCCAGTCATGTGACTGTCTGGGTTCAGACTTGTCAGTCAATAGACGTTTGCTGAGCACAGAATAAGGATCAGGAATCAGGCCTGCAGCCTTACATAGATCATCCCATTTAGTCCTCACAGCACTCCTGCAAGAAAGGAATTGTTGTTCCTATTGTTCAGCTGAAGAAATGGGATGGAGACTAAGGTGAAGTGACCTGCCCAGGGTTATACAGCCCCTCCGAGGCAGGGCTTGTATTTGATCCCGAGCCTGGCTCCTCCTTCGCCATGCCAGCACCAGGAGGGTGCTATACTGGGTCTCCCCTACTATTTCCCAAACCTTGGATCTTTGGTTTTAACAAAGCTACAGAACCTTTTATTGTAGTTTTCAAACTGGGTTCCTCTGAGGTACCCTGGGGGCTGCGCTGGGGGCTGCCCTGGGGGTTGAAGGGGAGGCTGGGAGGCTTCCTGGCTTCAACCAGGCAGCTCTGCTCTCACCAACTTTCATCTGATGGATTTTGTGGCTTCAAGAAAAAGAAAGCCTGGAAAATGTGGCTTACAGAGATGGAAATTCAATGTGATGGGGGAACCCCATGGGGGAGATGTTTGCCAGGCACCTGTTTACTGAGCTGCCTGCCACTCTGTGGCTGGCTCTGTACAGGGGACTGGGGGTGATGAAGATGGACACGCCCCTGTCCCCAAAGACCTCACAGAGATGAAAACACAGCAGTGTGATGAGGCTCTGAGGGGACATGCAGGTAGCTTTGGGACTGGGGAGGACACTTAATCCGGACGAAGGTGGGGAGGATCAGGGAAAACTTCTCTGGAGTTGGTGACATTTGAGCTGACTCTTTAAAGGACCTTTGGAATTTGCCCAGAAGGGATGTGGGAAGGGCACCTTCCATCTCGTCTGTATCTGATACCTGTCCTGACCACACAGGGTGTCCTGGATCCTGTTGGGGTCCTTGGGTCCCTGGGTCATGCCTCAGAGCTGAAAACGTACCAGGTCCAGCAAATGTTCAGCGGCCCCAGCTTCCCCCTTCCTGGGTGGATAGTCAGGCAGCAGCAAGACTGTATGTGAACTAGATGAGCAAGAAGTCCTGTCTCCCCCATCTGACTTGTCACACTTCAGTCCCACCCCTACCCAGCCAGCCAGCCTGCAGTCGGTTTGTTCAGGGAGGCTGCGAGGAGCAGCGTGCTGGTAGCGGTGTAATCATCGGCCTCGGGGCAGAGGGGAGCCTGATTTGTGTGATGCTGTCAACACTGCTGATTTCAAGCTACCAGTGTAACTGATGTTTCTGAACCCAGAACTGGGAGAGATGCCCGCAGTCAGGAACACAGGCCTCGAGCGGGCTCCTGCACACCTGGCAGGGGATGTGAAGACCCATCCCTACTTCTGGGTGTTCCAGTTCTTTTGAGGAGGCAGACGTCAGGCTCATGGGAACTGGGTAGTCCTAGGGCTGCTGAGGAAAGGGTGTAGTGTGATGCTGGCCATTGTGGAGGTCTGGAAAAAAATAACCTGGAACTTATTCATACTAAGGTGTGAGTGACTGCTTCAAGTCTGGCAAGGAAAGACTTGCCAGCTTCTCATTTGTGTCCTGCCTTGTCACCTTACTCCTGCCCCAACAGCCTCTCTCCTTGCAGAGCCAGTGCCCTCCCTGACCTCCATCCAGGTGCTGGAGAATTCGATGTCCATCACCTCCCAGTACTGTGCTCCAGGGGATGCCTGCGGGTGGGCTGGGCTCCCTCCCCTCACCCAGGGAGGTCCTCAGGTGACATGAGCCCAGGTGGTACAGATCACCCGGAACTTGCCCTTTCAGGGAGGAGCCTCCCCCATAAGGAAGGGTAGCCCCTTTCCAGGCTACCCTTGGACACTGTCTCTTCTGGAGGGCTCCAGTACAGATTGGGGGCTGAGGAGTCCCTGGTGGGGGTGGGGGGTGGCAGGGTACCCTCAGGCTAAGGTGCCAGTTTTGCCCCTGCAGGCCTGGGAACTTCACCTACCACATCCCTGTCAGTAGTGGCACCCCACTGCACCTCAGCCTGACTCTGCAGATGAAGTGAGTGCCGGTGTGGGGAAGTGGGAGGCAGGAGGGGAGCCAGGGAGAATCTCCCGCAGAGCCTCAGAACAGCCGAGTCTGAGGACAGCCGGAGAGTCTCTGGTATTTCCTGCATGGTGGGATAAGTGCTGACTTCATTGCCTACTTCGTGGTTAACTGGCTAAATGACCTGGCCTCATGGGCTGAGGACCACATGGGATGGTCGATGGGAAAGGTTTTGTTCGAGGGCCCTGGTTATTATGCGGTGTTTCAGGCTGGGTGGAGATTCAGAGGCGTGTGGCAGGCTGGCTGGGAGGGGGCTGGGGTTGAGGGACTCTAGAACCTCATTTCTCTGCTAACTGGGCCTGTCTACAGCTCCTCCTCCCCCGTGTCTGTGGTGCTGTGCAGCCTGAGGTCAAAGGAGGAACCATGTGAGGAGGGGAGCCTTCCACAGAGTCTCCACACCCACCAGGACACCCAGGTAGGTGGGACTGGGAAGCTGCGGGCCGGCCAGGCCCGAGCTGCTTCTCTCCTGGCACAACTGGGCCCCAAAATGGGCAAGGAGCAGAAGCTGGGAGTTATAGAGTAAAGCCTTCTCCACAAGGGACACTCTGGGGCCTGGGCCTCTGTGTCCCAGGGAGGGGCACGCGTGCCCGTGTTTGTTCATTGCACTCTGCTGAGCATCTCCCAGCCCTGCCGTGCTGGAGACGTGGGGAAGACAGCAGATCACAGGTGCTAATGTGGATGAGTGCAATGATGGAAACAGGCAGGTGTCTGGGAGCCCATGGCGGGGAGGGCTGTGGCTCACTGGAGGTGTCTGCAGAAGCAGGAAGGAGCCGACCTCATGCTCAGGTTGGGGAAGTGGCACAGCTAGATGTACAGCATCAGAGGGCCCCTCAGGTTCCATGTTTGGCCACCTCTTCTGGGAGAACTGGATGGTGAGCTCCTCCCTGGCCAGGTAACCGGAAGTTATGACTGTCCCTGGGGCTGATGGACCCCCAGTTTCTTCTTGAGCCTAAGAGGCCATGGGAGAAGACGCTCAGGACAAATGAAGGGAAGTAGTGATTATTTTTTCTTGCCCATTCATGTGTTTACTCAGAAAATATTGATTGGGGCCCCATCTGTCCCAGGCCCTGTGCTGGGTGGGCCTAGCTGCAGGGGAGAGAGGTGGAGTAGACACAGGTTTTGACTTCCAAGAACGTACTCTATAGTGAGGGAGAAAAGACGTGCAGAAAGCACCTGCAACAGAGGTGGGGGTGCTTCTGAGGGAGGCCCGAGCCCTGTCGCCCTGCAGAAGAGACAGGGTCCAAGACAGAGGGAGAGCCCAGCTAGACACACAGCAGACATGGTGCTCGGGCCTGAAACCACATCACAGACGCACAGCCAAAGCCTCAGGTAGATGGGCAAGCTGCCTGCAGCCAGGCTGCATGCCACCCTGTGAGGGAGACAGCCAGACAGACCTGGGTTTGAATCCCAGCTGTGTGATTTTGCCACACTGTGTGATTTTTAGGAAGTGGCTCAGTTTCCTCATCCAGAAGATGGGGCTAGTAGCAGCACTGTGTCACTGGATTGTACTGAGGATGGGGCTAATGAAATACTTTGATGTGCCCAGAGCATAGTGGGTGAGGGAACCCAGCACAACAGGACTGGGAAGGAGGCAGGGGCCAGGTGGAGGTGGCTGTGGACCTGCCAGTCCCGGGCACGGTCTGCATGGAGTAGCTGCCATTGCTCCTTCTGCCAAA
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Task1_train_15872
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Consider a variant on Chromosome 11 in gene BEST1 (bestrophin 1). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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CATATGCAGAATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTT
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CATATGCAGAATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCGTGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTT
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Task1_train_15873
|
Gene BEST1 (bestrophin 1), found on Chromosome 11, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Macular dystrophy
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ATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGT
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ATTCTGTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCATTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGT
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Task1_train_15874
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A sequence alteration has been identified in BEST1 (bestrophin 1) on Chromosome 11. Is it disease-inducing or harmless?
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Pathogenic; Vitelliform macular dystrophy 2
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GTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAG
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GTCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACCCAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAG
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Task1_train_15875
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This variant affects gene BEST1 (bestrophin 1) located on Chromosome 11. Evaluate its biological effect and specify any disease association.
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Pathogenic; Retinal dystrophy
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TCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGA
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TCATTTTACTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACAGAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGA
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Task1_train_15876
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Consider this mutation in BEST1 (bestrophin 1) on Chromosome 11. Is this a benign change or a disease-causing variant?
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Pathogenic; Retinal dystrophy
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CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACC
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CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAATGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACC
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Task1_train_15877
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Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Retinal dystrophy
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CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACC
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CTAGGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAACTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACC
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Task1_train_15878
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This variant lies on Chromosome 11 and affects the gene BEST1 (bestrophin 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Retinal dystrophy
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GGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTA
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GGGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGACTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTA
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Task1_train_15879
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A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 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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GGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTAT
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GGTGATGAAATTCCCAAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGTTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTAT
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Task1_train_15880
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This gene mutation involves BEST1 (bestrophin 1) on Chromosome 11. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Retinal dystrophy
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AAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAA
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AAGCAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGACTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAA
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Task1_train_15881
|
This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
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Pathogenic; not provided
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CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAA
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CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTACTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAA
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Task1_train_15882
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This alteration in BEST1 (bestrophin 1) on Chromosome 11 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; not provided
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CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAA
|
CAACACCATCCTTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTTCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAA
|
Task1_train_15883
|
This is a variant in BEST1 (bestrophin 1), located on Chromosome 11. Is this mutation a likely cause of disease or not?
|
Pathogenic; Vitelliform macular dystrophy 2
|
TTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACA
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TTTTCAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCGTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACA
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Task1_train_15884
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Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Retinal dystrophy
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CAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACA
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CAGATAAGGGCACTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCGGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACA
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Task1_train_15885
|
Given this context: Chromosome 11, gene BEST1 (bestrophin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Autosomal recessive bestrophinopathy
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CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAA
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CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCAGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAA
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Task1_train_15886
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This mutation is located in gene BEST1 (bestrophin 1) on Chromosome 11. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Retinal dystrophy
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CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAA
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CTGAGGCTGAGAGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCAGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAA
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Task1_train_15887
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A variant was discovered on Chromosome 11, affecting BEST1 (bestrophin 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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AGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATT
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AGAGGAGCTGAAACCTACCCGGGGTCACCACACACAGGTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCCACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATT
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Task1_train_15888
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Gene BEST1 (bestrophin 1) on Chromosome 11 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Retinal dystrophy
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GTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCTCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACC
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GTGGCAAGGCTGGGACCAGAAACCAGGACTGTTGACTGCAGCCCGGTATTCATTCTTTCCATAGCCCACAGGGCTGTCAAAGACCCCAGGGCCTAGTCAGAGGCTCCTCCTTCCTGGAGAGTTCCTGGCACAGAAGTTGAAGCTCAGCACAGCCCCCTAACCCCCAACTCTCTCTGCAAGGCCTCAGGGGTCAGAACACTGGTGGAGCAGATCCTTTAGCCTCTGGATTTTAGGGCCATGGTAGAGGGGGTGTTGCCCTAAATTCCAGCCCTGGTCTCAGCCCAACACCCTCCAAGAAGAAATTAGAGGGGCCATGGCCAGGCTGTGCTAGCCGTTGCTTCTGAGCAGATTACAAGAAGGGACTAAGACAAGGACTCCTTTGTGGAGGTCCTGGCTTAGGGAGTCAAGTGACGGCGGCTCAGCACTCACGTGGGCAGTGCCAGCCTCTAAGAGTGGGCAGGGGCACTGGCCACAGAGTCCCAGGGAGTCCCACCAGCCTAGTCGCCAGACCTTCTGTGGGATCATCGGACCCACCTGGAACCCCACCTGTGAGTACAAGGTGCCCCAGGTGGACTGGGCTGGGGCTTTGAGGCCTTCAGGGTTGGATGGCCATCTTGCGTATTTGTGTGGGATATGCACACACAGGCAGCACATGCGCAGGTGTGTGGGCACCTGTGTGTCTGTGCAAATGCCCTGAGGTGGGAATGAGCTTGGTGTGCATCAGGCACAGCCAGCCAGTGTGGCTGCAGCAAAACACACAGGGAAAGAATGGAGGGGGCATCAATCACTGCTTCAGTAAATTTTTATTGAGCGCCTTCTACGAGAACACAAGAGGAGCTTCCATTCTGAGGAGGAAACAGGCAGGAAACAGGCAGATATCCTGTATAATTTCAAGTAGTGATAAGTGCTCTCTAGAAATATCAAGCAAGGTGAGGAGACACAGAGCACCGGTGGCAGTGGGGCTCTATTTCCAGGTTGGATGGTTGGGAACATCCTTTCTAAAGGGAACCTGGAGTGGGAAGGAACCATGCAGGTATCTCAGGAAGAGCTTCCTCCAGGCAGGAAGATCAGCAGGTGGAAAGGCCCTGGAGCCACCATTCAGTAAACATCATTTGAGCATCTCTACCAGCTAGGTTCCATTATGGGAATGGGAATATGGTGGTGGACAGGGCTGCCTGGTCCCTTCCATACTTCTCACACTAGGGTGGTTGAGAGAGCTTGGGAGCTAACGAACAAGATGGGCTGAGAACACTGCCTAGCCCAGAGGACCTGAGCTTAGTGTGTAGACATTGCTGCTGTTACTGCCTTTGTCATTGTATTATTTATTTATTTATTTATTTATTTTTAGACAGAGTTTTGCTCTTCTTACCCAGGCTGGAGTGCAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCACCACGCCTGGATAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCTGCCTCGACTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGTGATTATAGAAAGTTAAAGGCACATGGCAATGCACACGCCTATCTACGTCTTCCCTGCCAAAGCAAAGGGCAGCCTCTGGGCTCACTTTCTTGCGTTTCTACTTCCAAAAGGCAGTCAGAACTGGCAGGGCCTTGGAGACCACTTCATCCACCTCCTAGGGTCCCTATGGGAGAGTTGAGGTCCAGAGCAGGGAAGGGTCCTGACAGGCTCTGACCAGGGCCTCTGATCCCTACAAACCCCCAATCGGTGTCCCTCTCTACCAGGACCCAAGCCCACCTGCTGCAGCCCACTGCCTGGCCATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTGCTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTGCCCTGCTACTACATCATCCGCTTTATTTATAGGTAAAGCTGGCAGGGCTGGGCCGGGGGGCCTGGGAAGGATGTGGCTGGGGCTGGGAGCTCCTGGGGGCCTCCCAGCCAGCTCAGGGGCCAGTGTACCAGTTCACTACAAGACTAAGCTGAGCTCCTGACCAGGTCCTGGGCACTGGAGCTGAGGCTGGGGCTGGGGGCTGGGGAGAGAAAAGAAGTCAGACTGAGAGGCTGCTCAAGCCAGGCCAGCAGGGTTTTAGCCACCCTTCCTCCAACCCCAGGAGGACCCCTGGAGCCCAGGCTTTGTCTGGCCCCACTCAACTGGCCTGTTTTACTGAATCCCACACAGACTCATAGGCCCACATAGTACATTAAAAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATGGAGTCTCACTGTGTTGTCCAGGCTGGTCTCGAACTCCTAGGCTCAAGCAATCCCCCTGCCTTAGCCTCCCAAGGGGCTGGGATTACAGGTGTGAGCTACTGCACTTGACCAACCACATGGTACTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCCATCACCCAGGCTGGAGTGCAGTGGGGGCAATCTTGGCTCACTGTAACCTCTGCCTCCCAGGTGCAAGCGATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGAATTATAGGCACACACCACCACGCCTGGCTAATTTTTTTTTTTTTCTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGCCAGGCTGGTCTTGAACCCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACCATGCACAGCCCACATGGTACATTTTTTAAAATTATTTTTTAATTAAAATGTTTATCTAAGGCCAGTAGCAGTGACTCGCGTCTGTAATCCCAGCACTTTGAGGGGCCAAGGTGCGGGGATCACTTGAGCCTGGGAGTTCAGCGTGGGCAACATAGTGAGACCCCGTCTCTACCAAAAATTTAAAAAATTAGCTGGGAGTGGTGGCATTTGCCTGTGGTCCCAGCTACTTGGGAAGCTGAGGTGTGGGGATGGCTGAAGCCTGTGAGGTCGAGGCTGCAGTGAGCTATGATCACACCACTGCACTTCAGCCTGAGTGACAGGCTATCTCAAAAGCAAACAAAATAATGTTTATCTAAACAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACC
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Task1_train_15889
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Here is a variant affecting BEST1 (bestrophin 1) on Chromosome 11. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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CAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTG
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CAATAAAATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACAACCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTG
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Task1_train_15890
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The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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AATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGAT
|
AATATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCCCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGAT
|
Task1_train_15891
|
This mutation occurs in BEST1 (bestrophin 1) on Chromosome 11. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
|
ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAG
|
ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCAACCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAG
|
Task1_train_15892
|
Here is a genetic alteration in BEST1 (bestrophin 1) on Chromosome 11. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAG
|
ATAATCACAGAATATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCACCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAG
|
Task1_train_15893
|
An alteration has been detected in BEST1 (bestrophin 1) on Chromosome 11. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; not provided
|
ATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACAC
|
ATATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTGGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACAC
|
Task1_train_15894
|
A variant on Chromosome 11 in gene BEST1 (bestrophin 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
|
TATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACA
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TATGATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCCTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACA
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Task1_train_15895
|
A variant found in Chromosome 11 affects BEST1 (bestrophin 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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GATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAG
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GATAGCATTTTAAATTGAAAAAGCATTAATGATTACATGGATTGTAAAATATCAAATACATGAAATTCTTGTGTTCTTAATAATGCTAGCAACAAGGCACATTTGGTTTTTACTAGGGCACCAAGGTACTTTAAAAAAAGTTAGGGCCAGCCACAGGGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGCCCAGGAGTTTAGGACCTGAGCAACATAGGGAGATCCTGATCCTGTCTCTATAAAAAATTAAAAAATTGGCTAGGCCCTTTGGCTTACACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAACCCAATCTCTACTAAAAATACAAAAATTAGCCGAGTGGGGTGGCACGCACCTGTAGTTCCAGCTACTCAGGAGGATGAGGCCGGAGAATCGCTTGAGCCCGGGAGGCAGAGGTTGCAGTGAGCCGAGACCATGCCATTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGGTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAG
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Task1_train_15896
|
Given a variant located on Chromosome 11 and affecting BEST1 (bestrophin 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Retinal dystrophy
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ACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGA
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ACTCCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCCACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGA
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Task1_train_15897
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Here is a mutation in BEST1 (bestrophin 1) on Chromosome 11. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Retinal dystrophy
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CCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTT
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CCAGCCTAGGTGACAGAGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACATGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTT
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Task1_train_15898
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Given this variant in gene BEST1 (bestrophin 1) on Chromosome 11, 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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AGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC
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AGTGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGATCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCC
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Task1_train_15899
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The variant affects gene BEST1 (bestrophin 1), which is on Chromosome 11. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; not provided
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TGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA
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TGAGACTCCGTCTAAAAATAAAATAAAAATCAAAAAATGATCTGGGCATGGTGGCTTATGCCTGTAGTCCCACCCAGCTCCTCAGGAGGCTGAAGCGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTGCAGTGAGTCATGACTGTGCCACTGCCCTTGAGCCTGGGTAACAGAGCAAGACCCTATCTCAAAACAAACAAACAAACAAACAAACAAACAAAAACCAATAAACCAAAAACATTTATCTAAACAATAAAATAAAGGACAGATATAATCACCGAATATATGATAGCATTTTAAATTGAAAAAGCACTAATGACTACAATGGATTATAAAACATCAAATACATAAAATTCTTAAGTTCCTCCTAATACCAAATACAAAGCACATTGGTCTTTGGTTTTTACTTGGGCACTAATGCATGCTGAAAAAGAGTCAGACTTCATTTTTTAGAGTAGTTTTAGGTTCACAGCAAAATTGAGCAGAAGGTAGAGTTCTCATGTGTCTCTTTGCTCCTCCCCCTGCCCCCAGCCTCCCCACTATCAACACCCCCACACTACAGTGGTAGATTTATTACAATCCCTGAACCCACAGTGACACATCACTATCACCCAAAGTTCATAGCGTACAGCAGGGTTCACTCTTGGGCTGTACATTCCATGGGTTTGGATAAATGTGTAATGATGTCTCCACCATCACAGCATCAGGCAGAGTAGTTTCACTGCTCTAACAAAATCCTCTGCCTATTCACCCCTCTCATTAAAGCCAAACACTCTGTTTCTTTTTTTCTTTTTAGAGACAGTGTCTCGCTCTGTCACCCAGGCTGAAGTGCAATGGCAATCACAGCCCATTGCAGCCTCCAACTCCTGGGCTGAAGTGATCCTCCTATCTCAGCCTCCAGTGGCTACGACTGCAGGCATACGGCAACGGCACCCAACTAATTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGTCCTGCCTTAGCCTCCCAGAGCTCTGGGATTACAGGCGTGAACCACCGTGCCCGTCCCAAACACTCTGTTTCGACCTGCTTTTAAACAACTGACCCTTGGCTGCATTCAAAGGATCAGGGTGTCTGAAACTGGCCTCTGCAGCAGGACCTTCCTTCCTACACATCTCCCAGTGGCCAGTGTGAGGATTCTCCCCACAAGAAACCACTGGAGGGGGCCTCCTCCTGTCCGGGTTTGGGGCTGTACAAGGAGCATCATGGACCTGGCTCAGGCCTCAGGAGGGGCCCTGGGCTGGGGAAAATGTGGGATAGCATCGAGGCAGTCCCACTCCTACCCAGGGCCGGGCTAGACCTGGGGACAGTCTCAGCCATCTCCTCGCTGCGTCCACACAATTCCACCCCCACCCCCACCCCCAGGCTGGCCCTCACGGAAGAACAACAGCTGATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTGCTGGGTGAGTTCCCCCTTCTGGCTGTTCCGGGTCCCTGTGGCCGCCCAGGCTCCAGACAGGCCAGGGGAGGATCACGAGGAGCTGCGGCAAGGGGCTGGGGAGGGGGCGGGGGAACGCCAGCGGCAGGTCGGCGCCTCTCTGTAGGGAAAGGTGCGGACTGCAGCCAGTGAAACTGAAGTTAGACGTTAGGTAAGACGTCCTGCCGTTAGCAATGAAAACCCCATTTTCTGAGGGAAGCGCTGACATCATGGTCCCTGGAGCCCCTGCGCGGGAGGGGAGGGGGTCTGGCGGATTTCTGGGACCAGCAGGGGGACCCCCGGGTGACAGAACCCTTGGGGCTCTCGCGCCTCCATGCGAGGCTCTGCCTGCCTCTCGCTCCCGAGCGCCTTCCAGGAGGGCTGGGGGCTAGGCCCGCTCGCAGCAGAAAGCTGGAGGAGCCGAGGCATCGCCGGGCGCTGGGCCCTGGGCTCTGGCCGCAGCCTGGCCCCTCGCCCCTCGCCCCCCGCCCCTCCTGCCCAGGCTTCTACGTGACGCTGGTCGTGACCTGCTGGTGGAACCAGTACGAGAACCTGCCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAAGGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTGCGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCAGGTGGGCGGACCGGGAGCAACGGGGAGGCACCGGGCAGAGCCAGGGGCCGAGATGGGCGCGGCAGGAATGGAAGATGGGTGGAGCCAAAGTCCCCCGGACTCGGGGGATTGGGTGGAGCCAGGAGTGGGGTGTAGTCAAGATTTGGGGGTCCAATTGGGCGGGACAGAGTCGGGTGTCTGAAGGTGGGGCGAGGCCAGGAGCCCACCCTCCGAGAGTAGGAGTCTGAGGCAGGGCTAAGGACCCTTGAGGGATAATGGAAAGAAGGGTGACGGCTTGGGAACTGGTGAGGTACTAGGGTCTACTTCCCTCTGCCCTTGCCCCTCTTGATCTCCGGTTTCCACTCTGGAGGTATGGGACATTGGTCTCTGACACCCCCTCAGCCTGGCCTGACCTGGTCCTGGTTAATAAGACAGACCCAGGCTAGGCGTGGTGGCTGTCGCCTGTAATCCCAGTGCTTTAGGAGGCAAAGGTGGGAAGATCGCTTGAGCCCAGCTGTTTGAGACGCCCCTGAGCAACATAGCGAGACCCCCATCTCTACAAAAACATTAAAAATTAGCAGGGCATGGTGGCGTGTGCCTGCAGTCTGAGGCTGAGTATCGGGAGGCTGAGGCAGGAGGATCACTTGAGCCCAGCAGTTCCAGGCTGCAGTGCGCTAAGATCGCACCGCTGCACTCCAACCTCGGTGACAGAGCCAGACCCTTTCTCTGGAAATAAATAAATACCCTGCCCACATGCTCAGCCCAGAACAGCACCTAGTAGGTGCTCAGAAATTTTTTTGTTGTTGAAAGAAAGAGGATGGCAAAGGAGTGCTGAGGTTCCTATAGGTCAGCAGGTGCCGGCCATCCCTTCTGCAGGTTCTCCCACCCACCGCCTTCTTCACTCCACTCTGCAGGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATGTTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGTGAGCCCACTGTACAGACAGGGCTGCCGCAGAGTGGGAAGGGCTGTGGTCCACAGGAAACAAGGTTTCCTACAAAGAGAAGCCTTGGGCCCCTGAGGGTCTTCCGAGAGCCTGAGGTGGGGTTGCAGAATCTTTTCCAACAGCAATCCACAGCCCGAGGTGGTCCCTTCTCAGAGGCCCCTCCCTCTTCTCCAAGTCTGTGAGGTCCTGGTTCCCTTTTGATAGATGAGGAAGCTGAGACACAAAGAGGTTTAGTGAGCTTCCCATGGCCACACAGCCAGGAATGGACCATAGGTACCAGGCCCTGGTACCTGGAGAAGAGGTGGGGGCGAGCCCAGGGTGGGGGCAGGTGGTGTTCAGAACCCCATCCCCCTCTTCTGCCCCCCAGGAGATGAACACCTTGCGTACTCAGTGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGAGGACTAGGCTGGTGAGGCTGCCCTTTTGGGAAACTGAGGCTAGAAGGACCAAGGAAGCAGCTGGGGTGGGAAGGGCTCACCTAGAGGCTAAGTGGCTCCCCTGGGAGTTGGGTCCACACTTTGAAGTTGGGTCTGGACTTTGAAGTGCCAAGTTCTAAGAGTCCAGGCTCCTGCCTGGCCCAGTCCAGTAGAGGCAATGTGATTATCCCCATATTAAAGAGAGGTTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA
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Subsets and Splits
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