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_22800
|
This genomic variant is located on Chromosome 16, within the HSF4 (heat shock transcription factor 4) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Cataract 5 multiple types
|
ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCC
|
ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAATCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCC
|
Task1_train_22801
|
Given this variant in gene HSF4 (heat shock transcription factor 4) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Cataract 5 multiple types
|
GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCC
|
GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCGTCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCC
|
Task1_train_22802
|
The gene HSF4 (heat shock transcription factor 4) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Cataract 5 multiple types
|
ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAG
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ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACCGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAG
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Task1_train_22803
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Here’s a variant in HSF4 (heat shock transcription factor 4) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cataract 5 multiple types
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TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAGGGAGCTTCAGCCCC
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TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGTGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAGGGAGCTTCAGCCCC
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Task1_train_22804
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This genomic variant is located on Chromosome 16, within the HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Apparent mineralocorticoid excess
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CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGG
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CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCTGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGG
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Task1_train_22805
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This mutation occurs in HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Apparent mineralocorticoid excess, mild
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TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCAT
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TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCTGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCAT
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Task1_train_22806
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With a mutation on Chromosome 16 in gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Apparent mineralocorticoid excess
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AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGA
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AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGTGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGA
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Task1_train_22807
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The variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Apparent mineralocorticoid excess
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AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTA
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AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCTGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTA
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Task1_train_22808
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This variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Apparent mineralocorticoid excess
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CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTACCT
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CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCCATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTACCT
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Task1_train_22809
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This mutation occurs in CTCF (CCCTC-binding factor) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGGCCTGATAATTCTTTGTGGTGGAGGACTGACCTGTGTCTTGGAGGATGTTTAATAGCATCTCTAGCTTTCACCCACGAGATAACAGTAGCACATCCCAGCCCAGTAGTGACAACCAAAAATGTGTTAGCCAAATGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCCCCCACGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAAGCTATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGTAGTGGTTGTTTCTTTCATCAAGAGGCACATGTCTGTTGTGTCTTTTTTAATATTAACAACCATTGATGCCTAATTCATTCACCAAAGGGTCTTTTTGTTTTAAAATGTATATTTTTATTTAGACATGCTTTGCTTTAAATAACAATCTGTGTTCTCCCTTAATAAAGGCAGGGGAAATGGAAGGTGATGCAGTCGAAGCCATTGTGGAGGAGTCCGAAACTTTTATTAAAGGAAAGGAGAGAAAGACTTACCAGAGACGCCGGGAAGGGGGCCAGGAAGAAGATGCCTGCCACTTACCCCAGAACCAGACGGATGGGGGTGAGGTGGTCCAGGATGTCAACAGCAGTGTACAGATGGTGATGATGGAACAGCTGGACCCCACCCTTCTTCAGATGAAGACTGAAGTAATGGAGGGCACAGTGGCTCCAGAAGCAGAGGCTGCTGTGGACGATACCCAGATTATAACTTTACAGGTTGTAAATATGGAGGAACAGCCCATAAACATAGGAGAACTTCAGCTTGTTCAAGTACCTGTTCCTGTGACTGTACCTGTTGCTACCACTTCAGTAGAAGAACTTCAGGGGGCTTATGAAAATGAAGTGTCTAAAGAGGGCCTTGCGGAAAGTGAACCCATGATATGCCACACCCTACCTTTGCCTGAAGGGTTTCAGGTGGTTAAAGTGGGGGCCAATGGAGAGGTGGAGACACTAGAACAAGGGGAACTTCCACCCCAGGAAGATCCTAGTTGGCAAAAAGACCCAGACTATCAGCCACCAGCCAAAAAAACAAAGAAAACCAAAAAGAGCAAACTGCGTTATACAGAGGAGGGCAAAGATGTAGATGTGTCTGTCTACGATTTTGAGGAAGAACAGCAGGAGGGTCTGCTATCAGAGGTTAATGCAGAGAAAGTGGTTGGTAATATGAAGCCTCCAAAGCCAACAAAAATTAAAAAGAAAGGTAAAACGAGTTTATCCATAGTGGTTTCATAAAACCATTTTGGGATAAGCATACAACACAGTGCATATGCAAGTTGTTTTATATTAACCGTATTTGTAAAAGGTCGTTATGTGGGTACCGTTCTTTAAAACCAGTCTAAAATAAGTTTTTTCCAGATTGAATGCTCTTTTTTTAATCCCAAAGAAGAAGGAAATGTATTAGTGACATGAGATAATTATGACTTATATTGGGTTTTGTTATTAAAAGCTAATCAAATATATTTGTAGAAATTTAAGATTAGGATTAATCTTAACACTTTGAAACTCTGCAGCAAGTAAGTGTTTTATTTTGCACATAGGTGTAAAGAAGACATTCCAGTGTGAGCTTTGCAGTTACACGTGTCCACGGCGTTCAAATTTGGATCGTCACATGAAAAGCCACACTGATGAGAGACCACACAAGTGCCATCTCTGTGGCAGGGCATTCAGAACAGTCACCCTCCTGAGGAATCACCTTAACACACACACAGGTGCTGGATAAGAATGTTGGGGGCTACAACAGCAAATGCTCAGACTTCGCTTTTTAGTATTCATTCAAGCTGACTCCAGCGGGAATTTAAAGGAAGTTTTTATTATTTCTTATGATGCCCTTTTTGTAATCATGATTTTATTGTAAGCACTTGGACTTAGTTATTATAGACAAATGTAAAGAAAATTTAATGAAAAATAACACCCTCTCTCTTAAAAAAAAGAAGTCTCAGGCAATAGATGCCTGGTACTATGAGGAAGAATGTTAGAAATAGAAGTGAAATCCCAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTTAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGTGCGAGTCTCCGTCTAAAAAAAAAGAAAAGAAAAGAAATAGAAGTGAAATCCTACCTTTATTTAAAAAAAAAAAAGTGGCCGGGTACAGTGGCTCACGCCTGTAATCCTAACACTCTGGGAGGCTGAGGTGGGCAGATCACTTGAGATTAGAAGTTGGAGACCAGCCTGGCCAACGTGACAAAATCACATCCATCTGTACTAGAAATACATAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAAACCTGGGAGGCAGACACTGCAATGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAACAAACCTTAACATTTTTTGTTTCTGGTTGTTTCACGTCAAGGAAGATAATTCATAATTTCAGAATGGAAAAGCTAAGGCACCATTCTGATAATTCAAACATTTATTTGAGCATCCTACTTACTTTAGTGTTCAGATATTCTGATATTAGCTTCATGTTGGCTGTGGCCAGGTTCCCTGAGGTCTCTAAAGTAGAGGGACTCTGTGCACTAAACCTCTCTTTAAGCTTTCCTGAGCTATTTGTTATCCCAGTGTAGGAAGTTGGTTGCAAGTCTTCTCACATGGTTTTTCATGCAGAATAACTTCATTTCATATGACAACTCTTGTTTTTGATTTTTAGGTTTTTAAAAATTTCTAATGACAACCCTTGTTTTAGATTTGTTGTGCTGGTTGTCAGATGACCATGATCAAGTGGGTGTTAATCATAAACAGTATGCTGCACATGGGCACATTCTTCACTAATGTGACTTACTTTTAAACATCTCCCTAATTTCTACTCAGACACTTGATAATATGTTTTATTTGATACTTTGAAGACACTAGGATGGGGCATATGACTAAATAAAAGTAACTGGGTAATCCCAGCACTTTGGAAATCCAATGGGGGGTAGATGAC
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ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGGCCTGATAATTCTTTGTGGTGGAGGACTGACCTGTGTCTTGGAGGATGTTTAATAGCATCTCTAGCTTTCACCCACGAGATAACAGTAGCACATCCCAGCCCAGTAGTGACAACCAAAAATGTGTTAGCCAAATGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCCCCCACGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAAGCTATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGTAGTGGTTGTTTCTTTCATCAAGAGGCACATGTCTGTTGTGTCTTTTTTAATATTAACAACCATTGATGCCTAATTCATTCACCAAAGGGTCTTTTTGTTTTAAAATGTATATTTTTATTTAGACATGCTTTGCTTTAAATAACAATCTGTGTTCTCCCTTAATAAAGGCAGGGGAAATGGAAGGTGATGCAGTCGAAGCCATTGTGGAGGAGTCCGAAACTTTTATTAAAGGAAAGGAGAGAAAGACTTACCAGAGACGCCGGGAAGGGGGCCAGGAAGAAGATGCCTGCCACTTACCCCAGAACCAGACGGATGGGGGTGAGGTGGTCCAGGATGTCAACAGCAGTGTACAGATGGTGATGATGGAACAGCTGGACCCCACCCTTCTTCAGATGAAGACTGAAGTAATGGAGGGCACAGTGGCTCCAGAAGCAGAGGCTGCTGTGGACGATACCCAGATTATAACTTTACAGGTTGTAAATATGGAGGAACAGCCCATAAACATAGGAGAACTTCAGCTTGTTCAAGTACCTGTTCCTGTGACTGTACCTGTTGCTACCACTTCAGTAGAAGAACTTCAGGGGGCTTATGAAAATGAAGTGTCTAAAGAGGGCCTTGCGGAAAGTGAACCCATGATATGCCACACCCTACCTTTGCCTGAAGGGTTTCAGGTGGTTAAAGTGGGGGCCAATGGAGAGGTGGAGACACTAGAACAAGGGGAACTTCCACCCCAGGAAGATCCTAGTTGGCAAAAAGACCCAGACTATCAGCCACCAGCCAAAAAAACAAAGAAAACCAAAAAGAGCAAACTGCGTTATACAGAGGAGGGCAAAGATGTAGATGTGTCTGTCTGCGATTTTGAGGAAGAACAGCAGGAGGGTCTGCTATCAGAGGTTAATGCAGAGAAAGTGGTTGGTAATATGAAGCCTCCAAAGCCAACAAAAATTAAAAAGAAAGGTAAAACGAGTTTATCCATAGTGGTTTCATAAAACCATTTTGGGATAAGCATACAACACAGTGCATATGCAAGTTGTTTTATATTAACCGTATTTGTAAAAGGTCGTTATGTGGGTACCGTTCTTTAAAACCAGTCTAAAATAAGTTTTTTCCAGATTGAATGCTCTTTTTTTAATCCCAAAGAAGAAGGAAATGTATTAGTGACATGAGATAATTATGACTTATATTGGGTTTTGTTATTAAAAGCTAATCAAATATATTTGTAGAAATTTAAGATTAGGATTAATCTTAACACTTTGAAACTCTGCAGCAAGTAAGTGTTTTATTTTGCACATAGGTGTAAAGAAGACATTCCAGTGTGAGCTTTGCAGTTACACGTGTCCACGGCGTTCAAATTTGGATCGTCACATGAAAAGCCACACTGATGAGAGACCACACAAGTGCCATCTCTGTGGCAGGGCATTCAGAACAGTCACCCTCCTGAGGAATCACCTTAACACACACACAGGTGCTGGATAAGAATGTTGGGGGCTACAACAGCAAATGCTCAGACTTCGCTTTTTAGTATTCATTCAAGCTGACTCCAGCGGGAATTTAAAGGAAGTTTTTATTATTTCTTATGATGCCCTTTTTGTAATCATGATTTTATTGTAAGCACTTGGACTTAGTTATTATAGACAAATGTAAAGAAAATTTAATGAAAAATAACACCCTCTCTCTTAAAAAAAAGAAGTCTCAGGCAATAGATGCCTGGTACTATGAGGAAGAATGTTAGAAATAGAAGTGAAATCCCAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTTAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGTGCGAGTCTCCGTCTAAAAAAAAAGAAAAGAAAAGAAATAGAAGTGAAATCCTACCTTTATTTAAAAAAAAAAAAGTGGCCGGGTACAGTGGCTCACGCCTGTAATCCTAACACTCTGGGAGGCTGAGGTGGGCAGATCACTTGAGATTAGAAGTTGGAGACCAGCCTGGCCAACGTGACAAAATCACATCCATCTGTACTAGAAATACATAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAAACCTGGGAGGCAGACACTGCAATGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAACAAACCTTAACATTTTTTGTTTCTGGTTGTTTCACGTCAAGGAAGATAATTCATAATTTCAGAATGGAAAAGCTAAGGCACCATTCTGATAATTCAAACATTTATTTGAGCATCCTACTTACTTTAGTGTTCAGATATTCTGATATTAGCTTCATGTTGGCTGTGGCCAGGTTCCCTGAGGTCTCTAAAGTAGAGGGACTCTGTGCACTAAACCTCTCTTTAAGCTTTCCTGAGCTATTTGTTATCCCAGTGTAGGAAGTTGGTTGCAAGTCTTCTCACATGGTTTTTCATGCAGAATAACTTCATTTCATATGACAACTCTTGTTTTTGATTTTTAGGTTTTTAAAAATTTCTAATGACAACCCTTGTTTTAGATTTGTTGTGCTGGTTGTCAGATGACCATGATCAAGTGGGTGTTAATCATAAACAGTATGCTGCACATGGGCACATTCTTCACTAATGTGACTTACTTTTAAACATCTCCCTAATTTCTACTCAGACACTTGATAATATGTTTTATTTGATACTTTGAAGACACTAGGATGGGGCATATGACTAAATAAAAGTAACTGGGTAATCCCAGCACTTTGGAAATCCAATGGGGGGTAGATGAC
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Task1_train_22810
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This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTACTTCAACCTGGAAGGTAGAGGTTGCAGTGAGCCAAAATCATGCTACTGCACTACAACCTGGGCGACAGAGCAAGAGACTCCGTCTCAAAAAAAAGAGGATGGGCCTTGAGTGAAGGGATGTAGGTGGTCATGTGGCACAGCCTAATGGAACTCCCTGCCCCACAGCAGTGTCCACTTCTTTGCTAATTGCCACGCTTATGCAGGCCTTTCTCTGCCCTGGATAGTACTAGGTAAACACGAGCATTTATTTTTTAGCTTACTTTGTTCTAAAAGAAGACCAAGCATGGTGGCTCACAACCTGTAATCTCAGGACTTTGTGAGGCCGAGGCCGGAGGATTGCTTGAGCCCAGGAGTTTGAGACAAGCCTGGGCAACGTGGCAAGACTCCATCTCTACAAAATAGAAAAAATTAGCCAGGCATGGTGGTGCAAGCCTGTAGTCTCAGCTACTGGAGAGGCTGAAGTAGGAGGATCACTTGAGCCTGGGAAGTCAAGGCTGCAGTGAGCCTTGATCCTATCACTGCACTCCCACTGGGTAACAGAGGAAGACCCTGGCTCAAAAACAAAAAACGAAAAGAAAATTGGATGCCACTTTTCTTCTCTTGTTAATTGTTTTACTTCTTATCCATACCACCAGACTATACACTTTCACAGGAAGAACTCTGTGCTTTACCGTTAGATCCATAGTGGTTCTAAAGAATCGAATGAACAAATGAACATTCCTTGGAATTGCTTAGTTTTTATTATACTCCAGTCACTCTTCCTCTCCAGCATTCTCTTCATTCTCAAAGAGAATCATTTCTGCAGATGGCTGGTTCTATTCATTACATTGTGGCTCTTCCTAATTGTATCCTCAAAGGCAGCCTTCCTTTGGTTTTAGTGTTTGATACTACCTTGCTGTCACCCCTTACCTGCTGCCCACAATTACAGATGGTCACTAGTCTGTGAAACTAGCACTGCATTGTGCTCTCAGTTTTGTCTCTAAGATTCCTTCAGTGAAAGACAAGAAATGTAGAGAGTATATTATTCATGTTTTATATTGGATGAATTGACATTCAGAATGATCACAGCATATTAGACATGGATGTTTGAAAATCATTTGTTTAAATCACATAAAAGGAAATACTATGTAAAGCCTGTGATAAGCCTCTGAAATTCCTTATCAAGACAGATACATGTGGAAAACAAGTTATATGTTTGTGTTTTTAAAAGAAAGTTGCAGAATATGGACAGCCCAATGGCCCTATATTTATAGTCATAATACAACGAGATTTGAGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTAGCCTCCCAGAGTTCTGGGATTAGAGGCATGAGCCACCAAGCCCGGTCTCTATTAACTTTTAATCCATAATGACCAGGATATTCACAAAATAGGAATAAGAAGGTTTTTATTGTATTCAAAGGCAGCGGATTCAGATGGGTAATTAAGAGAAACTAATTTGGTATGTGTTATAATATCCTGGTGTTAGTATAAATTCATCCAGGCCCTCCCATAGTTTTCGGAGCTGACTTTTGTATCTGCTTTCAAGCTACTGCAGTTGATGGGATGAATAGGGTTCCAGTCTCATAGCAGTTCTGTGCCACACATTGAACTCTGTCATTAACTGTGCCCTTGATCTTGCTCTTCCTGTTACTCCATCCTTTCTCTAGGTACTCGTCCTCACAAGTGCCCAGACTGCGACATGGCCTTTGTGACCAGTGGAGAATTGGTTCGGCATCGTCGTTACAAACACACCCACGAGAAGCCATTCAAGTGTTCCATGTGCGATTACGCCAGTGTAGAAGTGAGTGTTCAGCTTTTTGTTGGTATCTCTCTTAGGCAGACCATGATTTATTTCAATACAAAGCTATAACTACTACCCAAACGGACTTAAGATGAGGTAGAAAAATGTTAGTAAATTATTAACACTCCCACACAACACCGCTCCCCCAAAAAACTTATGATGATTGTGAAAGATTTACTTGTTAAAAAGAGTCAAGTTTCTGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCGATCTGTACTAAAAAATAAAAAATTTAGGCTGGGCCTGGTGGCTCACAGCCTATAATCCCAGCAGTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGAGGCAGAGCTTGCAGTGAGCTGAAATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCTCCATCTCAAAAAATAATAATAAATAAATAAATAAATATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTTAAAAAAGAGTACCAGTTTCACATGTTAATACAGGCAAATTCTGTCAAACTTTGAAGAAAAAACTGTACCCAGAGCATTTTAAAATGGTAGGTTTATCAATTTTATTATTTGAAGCTACACTGTTACCAAAACTGGGTCAGAAAACTACCAAAAAGAAAACTTACCCTCAGAGAGAAGCAAAAATTCTAAATGAAATTATTAGCCAATGAGCCAACCTAATTTAGTAATACGTTCTAAAAATAAGTGATACTGAATATATCTGAAACACAAAGATTGTTTATCATTGGGAAATTGCTGATGTATATTACATTGAAGGATTGAAGAAAAACCATATTATTTCTGTAGATGGGATGGGAGCTAAAATTCAGTAATCATTAATTACTGTTTAATGTCCTAGCAAGTTACGTATAGGAGAAAACTTCTTTAATATAATGTGTTTAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGTTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGACCAGTGTGGCCAACATGGTGAAACACCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGCAGCATGCGCCTGTAGTCTCAGCGACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGAAGGTTGCATTGAGGCAAGATCGCACCACTGCACTCCAGCCTGGGTGATGAGTGAGACTCCCCCTCAAAAAAATTTTAAACAGCATATATACCAGAAATGTATAATAAACTCATCCTAATTAATTCTGAAACATTGAAAGTATTTCCATTAAAATCTGGAATATGACAAGATATTCATTCTTAATGTTACTGTTTCAGCTTTGTACTGGAAATCCTAGCTAATCGAATAAAGCAAGAAATGAATTATTAATGGAAAGATAAAACTGTTATTTCTTGCAGAGAGATTTGCTTACAGAGAAAATCTAAGAGTATCAGAACAAAAACTTAGAGCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAA
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TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTACTTCAACCTGGAAGGTAGAGGTTGCAGTGAGCCAAAATCATGCTACTGCACTACAACCTGGGCGACAGAGCAAGAGACTCCGTCTCAAAAAAAAGAGGATGGGCCTTGAGTGAAGGGATGTAGGTGGTCATGTGGCACAGCCTAATGGAACTCCCTGCCCCACAGCAGTGTCCACTTCTTTGCTAATTGCCACGCTTATGCAGGCCTTTCTCTGCCCTGGATAGTACTAGGTAAACACGAGCATTTATTTTTTAGCTTACTTTGTTCTAAAAGAAGACCAAGCATGGTGGCTCACAACCTGTAATCTCAGGACTTTGTGAGGCCGAGGCCGGAGGATTGCTTGAGCCCAGGAGTTTGAGACAAGCCTGGGCAACGTGGCAAGACTCCATCTCTACAAAATAGAAAAAATTAGCCAGGCATGGTGGTGCAAGCCTGTAGTCTCAGCTACTGGAGAGGCTGAAGTAGGAGGATCACTTGAGCCTGGGAAGTCAAGGCTGCAGTGAGCCTTGATCCTATCACTGCACTCCCACTGGGTAACAGAGGAAGACCCTGGCTCAAAAACAAAAAACGAAAAGAAAATTGGATGCCACTTTTCTTCTCTTGTTAATTGTTTTACTTCTTATCCATACCACCAGACTATACACTTTCACAGGAAGAACTCTGTGCTTTACCGTTAGATCCATAGTGGTTCTAAAGAATCGAATGAACAAATGAACATTCCTTGGAATTGCTTAGTTTTTATTATACTCCAGTCACTCTTCCTCTCCAGCATTCTCTTCATTCTCAAAGAGAATCATTTCTGCAGATGGCTGGTTCTATTCATTACATTGTGGCTCTTCCTAATTGTATCCTCAAAGGCAGCCTTCCTTTGGTTTTAGTGTTTGATACTACCTTGCTGTCACCCCTTACCTGCTGCCCACAATTACAGATGGTCACTAGTCTGTGAAACTAGCACTGCATTGTGCTCTCAGTTTTGTCTCTAAGATTCCTTCAGTGAAAGACAAGAAATGTAGAGAGTATATTATTCATGTTTTATATTGGATGAATTGACATTCAGAATGATCACAGCATATTAGACATGGATGTTTGAAAATCATTTGTTTAAATCACATAAAAGGAAATACTATGTAAAGCCTGTGATAAGCCTCTGAAATTCCTTATCAAGACAGATACATGTGGAAAACAAGTTATATGTTTGTGTTTTTAAAAGAAAGTTGCAGAATATGGACAGCCCAATGGCCCTATATTTATAGTCATAATACAACGAGATTTGAGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTAGCCTCCCAGAGTTCTGGGATTAGAGGCATGAGCCACCAAGCCCGGTCTCTATTAACTTTTAATCCATAATGACCAGGATATTCACAAAATAGGAATAAGAAGGTTTTTATTGTATTCAAAGGCAGCGGATTCAGATGGGTAATTAAGAGAAACTAATTTGGTATGTGTTATAATATCCTGGTGTTAGTATAAATTCATCCAGGCCCTCCCATAGTTTTCGGAGCTGACTTTTGTATCTGCTTTCAAGCTACTGCAGTTGATGGGATGAATAGGGTTCCAGTCTCATAGCAGTTCTGTGCCACACATTGAACTCTGTCATTAACTGTGCCCTTGATCTTGCTCTTCCTGTTACTCCATCCTTTCTCTAGGTACTCGTCCTCACAAGTGCCCAGACCGCGACATGGCCTTTGTGACCAGTGGAGAATTGGTTCGGCATCGTCGTTACAAACACACCCACGAGAAGCCATTCAAGTGTTCCATGTGCGATTACGCCAGTGTAGAAGTGAGTGTTCAGCTTTTTGTTGGTATCTCTCTTAGGCAGACCATGATTTATTTCAATACAAAGCTATAACTACTACCCAAACGGACTTAAGATGAGGTAGAAAAATGTTAGTAAATTATTAACACTCCCACACAACACCGCTCCCCCAAAAAACTTATGATGATTGTGAAAGATTTACTTGTTAAAAAGAGTCAAGTTTCTGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCGATCTGTACTAAAAAATAAAAAATTTAGGCTGGGCCTGGTGGCTCACAGCCTATAATCCCAGCAGTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGAGGCAGAGCTTGCAGTGAGCTGAAATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCTCCATCTCAAAAAATAATAATAAATAAATAAATAAATATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTTAAAAAAGAGTACCAGTTTCACATGTTAATACAGGCAAATTCTGTCAAACTTTGAAGAAAAAACTGTACCCAGAGCATTTTAAAATGGTAGGTTTATCAATTTTATTATTTGAAGCTACACTGTTACCAAAACTGGGTCAGAAAACTACCAAAAAGAAAACTTACCCTCAGAGAGAAGCAAAAATTCTAAATGAAATTATTAGCCAATGAGCCAACCTAATTTAGTAATACGTTCTAAAAATAAGTGATACTGAATATATCTGAAACACAAAGATTGTTTATCATTGGGAAATTGCTGATGTATATTACATTGAAGGATTGAAGAAAAACCATATTATTTCTGTAGATGGGATGGGAGCTAAAATTCAGTAATCATTAATTACTGTTTAATGTCCTAGCAAGTTACGTATAGGAGAAAACTTCTTTAATATAATGTGTTTAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGTTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGACCAGTGTGGCCAACATGGTGAAACACCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGCAGCATGCGCCTGTAGTCTCAGCGACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGAAGGTTGCATTGAGGCAAGATCGCACCACTGCACTCCAGCCTGGGTGATGAGTGAGACTCCCCCTCAAAAAAATTTTAAACAGCATATATACCAGAAATGTATAATAAACTCATCCTAATTAATTCTGAAACATTGAAAGTATTTCCATTAAAATCTGGAATATGACAAGATATTCATTCTTAATGTTACTGTTTCAGCTTTGTACTGGAAATCCTAGCTAATCGAATAAAGCAAGAAATGAATTATTAATGGAAAGATAAAACTGTTATTTCTTGCAGAGAGATTTGCTTACAGAGAAAATCTAAGAGTATCAGAACAAAAACTTAGAGCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAA
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Task1_train_22811
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Given this context: Chromosome 16, gene CTCF (CCCTC-binding factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
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GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAATGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
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Task1_train_22812
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This genomic variant is located on Chromosome 16, within the CTCF (CCCTC-binding factor) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Inborn genetic diseases
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GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
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GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAATGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
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Task1_train_22813
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Given a variant located on Chromosome 16 and affecting CTCF (CCCTC-binding factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; CTCF-Related Neurodevelopmental Disorder
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CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
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CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACATCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
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Task1_train_22814
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Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
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CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACATCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
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Task1_train_22815
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Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAG
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TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTGATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAG
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Task1_train_22816
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This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
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Pathogenic; not provided
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ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAG
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ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGTGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAG
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Task1_train_22817
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With a mutation on Chromosome 16 in gene CTCF (CCCTC-binding factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
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AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCTGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
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Task1_train_22818
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Assess the clinical impact of this variant on gene CTCF (CCCTC-binding factor), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Inborn genetic diseases
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AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
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AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCTGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
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Task1_train_22819
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A mutation in CTCF (CCCTC-binding factor), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
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ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGCATACCACCATGCCCGGCTAAATTTTTTTTTTTTTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCAGCCCTCACTTGCTTTTTTTTGTGACAAAGTTTTGCACTTGTCACCCAGGCCAGAGTGCAGTGGCCTGATCTCTGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTCTTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGCCCGCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCTGCCCTCATTGGCCTCCCAAAGTGTTGGGATTACAGGCGAGAGCTGCTACACCAGATCCCCTACTCCTATTTTCTTATAACCTCTAATTTTCCTTCTTTTTTCTCTCCCCTCTTGGTCTCAGTAAATGACTTCTCTTCCTACTTAAAAAATAAAGACAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGCTTAGGAGTTCCGGAGCAGCCTGGGCAACATGGCAAAACTCCATCTCTACCAAAAATACAAAACGGTTGTGGTGAGGTGCACCCTTGGTTCCAGCTACTCAGGAGGCTGTGGTGGGAGGATCACTTGAGCTTAAGAGGTAGAGGTTGCAACGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGAGAC
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ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCAAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGCATACCACCATGCCCGGCTAAATTTTTTTTTTTTTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCAGCCCTCACTTGCTTTTTTTTGTGACAAAGTTTTGCACTTGTCACCCAGGCCAGAGTGCAGTGGCCTGATCTCTGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTCTTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGCCCGCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCTGCCCTCATTGGCCTCCCAAAGTGTTGGGATTACAGGCGAGAGCTGCTACACCAGATCCCCTACTCCTATTTTCTTATAACCTCTAATTTTCCTTCTTTTTTCTCTCCCCTCTTGGTCTCAGTAAATGACTTCTCTTCCTACTTAAAAAATAAAGACAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGCTTAGGAGTTCCGGAGCAGCCTGGGCAACATGGCAAAACTCCATCTCTACCAAAAATACAAAACGGTTGTGGTGAGGTGCACCCTTGGTTCCAGCTACTCAGGAGGCTGTGGTGGGAGGATCACTTGAGCTTAAGAGGTAGAGGTTGCAACGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGAGAC
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Task1_train_22820
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This alteration occurs within gene CARMIL2 (capping protein regulator and myosin 1 linker 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency
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ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTC
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ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCAGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTC
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Task1_train_22821
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Given a variant located on Chromosome 16 and affecting CARMIL2 (capping protein regulator and myosin 1 linker 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Chronic colitis
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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Task1_train_22822
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Gene CARMIL2 (capping protein regulator and myosin 1 linker 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Combined immunodeficiency
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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Task1_train_22823
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A mutation on Chromosome 16 affecting CARMIL2 (capping protein regulator and myosin 1 linker 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
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Task1_train_22824
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A variant affecting Chromosome 16, within the gene PSMB10 (proteasome 20S subunit beta 10), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Proteasome-associated autoinflammatory syndrome 5
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AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTAGGCTACAGCCTGGGGACTTGCCTGTCCACTTACCCAATCTGGTCTTGCCCTCCAAACCCCCACTGTGTTTCTCCCTCTGAGCCTTAGCCACCTCTGAGGCAACATCACCTGCTTCCATCCCACCCCAAACAAAATCTAGGCTCCAGACGTTGATATAAGTAGGACCCTACTGGTCCTTCTCTCCGCCCTCGGCTCCTAAAGATCCTCTGTGAGCTTCGACTTCTCCCAGCCGTGCAGGCTTTGGTATTGGACGGTGTTATGTCGGGACCGCACTTCTCTGCCCTTACTCCACTCACCCTTCAGTGGTCACCTCCTCCGACAAGCCTTAGCCACCCGCACTGGGCCAGGGTCCTGTGCTCCCCCAGCTCCCGGGTGCACATCCCACCAGCGACCACAAAGTCGGGGACAGAGGCCGCTCACCGTCATGTTCGGCTGGAACCGGTCTTCTAGCACCGCCAGGGCCGCGTCCTGACCAGAGCCTGAAGGCAGGAGAAGCATCTGAAGTCAACCGCTGCGACGCCGTTTGGAGTGAGGCCAAGGTCACAGGGGCAGAGTTCGAGGAGAAGGGACAGAAGCGCTCACCCAGGGCTGTGAAGGGCAGACGGCTGTAGGAGCCATGGGGATGCACACCGTAGAGCTGCGGTCCAGTCAGGTCTACGCCGCCCACGATCAGCGATGCACCCACGTGGCCCTGGTACCTGCTCGAGGATGGGCGGGGTCGGCCACAAGCTGGGGCCTAGGCCCCACCTCTCTATGCCCAGCTCCTAGGTGCTATCCCCGCCCCTTCCTGTGGGCTGGCGCCCGATGACTGACATCGCCTTTTCCTGTAGCCCAGGTTCTCTTGGGCCGGCCTCTTCCGGTCACCTGGCCCGTCGCGGTCCCGCCCTTCTTTCTGTCCCGCCTTCCAATGGCCCCAACCCCGTAACTACCCCTGCCGGGGTCCTGTTAGCCCTGCCCCCGCACCTGAAGAGCGTCTGGCGCAGGATGCGAGTGACCGTGGCCACGCGGGGCTCGCGGCCCGTAGATAACGCGTGTAGCTCCATCTTGGACGCCACCATCCGTGTGGTCATCTCGGCGTCCGCGGCTACTCCAGCCCCACAGCAGCTGAGGCAAAAGGGAGGATCGGTGTGGGCAGGGCTGGGACGTGCGGGGACCGGAGTGGGAACGAGGGGGCCGTTCTTTTTTGCGTACGGGAACTGGGCTCGGGAGTCTCACTAGATTTTGGGGGCGATGAAGTGGATCTTCTCGCAGCTCTTGTCCGCCACGACCGAATCGTTAGTGGCTCGCGTATCGGCGCCCAGAATGACCCCGTCCTGAGGAGAGGGAGGGACCGCAGCTTCAGTGCCTGCTCGATACTCTCGGCTCCCCTCCAGCTCCCCGTCCCTCCCCGCTGCTCACTTGGAACACCAGGCCCGCGATGGTGGTCCCGGTCTTGCGTGCGTGAGGGACCTTGAGCCCCGGGAGGACGCGTTCCAATGATGCATTTCTGGAAACGGAGGAGGGCGCCCATGTTTCGGCTCTGCTTTCAAGACCCCTGTTGCTTCCCCTAACCTGGTCCCCGTCTCCCTCATCTTCCGGGGTAAGCCTGGAACCCAAGTCGACCAACACACCCTCCCCCACCCCCAGCCAGGAAAAAAGGCCACGAGCAAGCAGAGGCGGCTCAGGAGTGACCGCCCCCCGCGCCCCCGCTTCACCTTTGGCAGTTCTCGAAGGAGAAGCCCCCTCGGGGCTCCAGGGCTGGCTTCAGCATCTTGGGGCAGGCAGAGGGGATTAGGGGTCGCGGGCGGATGAGTCGGCCAGACAAGCGGGGCCAGTGAGCAGCTAAAAAGTCCTCTGCTAGGCTTCACGTCTGTACTTCCTGCTTTCGCTTTCGCCTTTACCCTTCCTCAAAGGCCCGTGGCGGTTTTCTGCATCTTGTCTTTCACTTTTGGCTTCACTTGTGGCTCTGAGCATTTGGGGAACCGGGTGATGTCCCTTGCTGTGCCCTCTGTGCTGCTCACTGGGTACTCTGTTGGATAGAGGGACAAATCTCTTCCCTTCTGGACTTGTTCAGGTCCTCCTCCCCCTCCATCTGAGCCCCTTGCTCTTACCCTAGCCTCAACTCTGACCTCCAGTCCCAGCATAGTAAAGCTCTCAGAGCCTTGGCCAAGTCAGCATTGTTGCTGGCCACCCAGTAGCATCAGGCATAGCTGACTTTTGTTCCTTGTCACCTTTCTTCCAACTCTTGCCTCTTTTGTTGCCTTTACTCCTCTGCAAAAACCTCAAACAGAGGCTCAGTCCTCAGTCACAGGGACCCTGGTCTTTCCATCTTCCATCTCAGGTGCCATCTTCCCTCTCTCAAGAGGGCACCATGGGTGTTGGGTTCCACTCATGGCCAAGCCTTGTTATTTCACCTCCCCAGTGACCTCTTGTCTGCACACATCCTTTTCCTAGCACTTCTAGTCTCAGCTAGCATCCTCTCCCACCTGGACATTGCACTGGCCTCCCTGGTTACCTTGCAATTCTTGCCCCCCGCCCCCCGACCCCCAGGCTACTCCTTACCCTGCAGAGAGCGGGTCTTTCTAAATTGGAAATCTGGTCACATTCTTTCTCTGGTTTAAACCCTTCAGCAGTCTGGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGCCCAGGAGTTCGGGGCTGCAGTGAGTATGGATCATACCATTGCACTCCAGCCTGGGCAATAGACCCCGTCTCAAAGGGGGAAAAAAAAGACTTGGGTTTGAGGCTAAGAGCAGCACGCAGCTGCCAAAGGGTTTATCTTAATTTTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTCGGTTCACTGGAACCTCTGCCTCCCAGGCACAAGCACTCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA
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AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTAGGCTACAGCCTGGGGACTTGCCTGTCCACTTACCCAATCTGGTCTTGCCCTCCAAACCCCCACTGTGTTTCTCCCTCTGAGCCTTAGCCACCTCTGAGGCAACATCACCTGCTTCCATCCCACCCCAAACAAAATCTAGGCTCCAGACGTTGATATAAGTAGGACCCTACTGGTCCTTCTCTCCGCCCTCGGCTCCTAAAGATCCTCTGTGAGCTTCGACTTCTCCCAGCCGTGCAGGCTTTGGTATTGGACGGTGTTATGTCGGGACCGCACTTCTCTGCCCTTACTCCACTCACCCTTCAGTGGTCACCTCCTCCGACAAGCCTTAGCCACCCGCACTGGGCCAGGGTCCTGTGCTCCCCCAGCTCCCGGGTGCACATCCCACCAGCGACCACAAAGTCGGGGACAGAGGCCGCTCACCGTCATGTTCGGCTGGAACCGGTCTTCTAGCACCGCCAGGGCCGCGTCCTGACCAGAGCCTGAAGGCAGGAGAAGCATCTGAAGTCAACCGCTGCGACGCCGTTTGGAGTGAGGCCAAGGTCACAGGGGCAGAGTTCGAGGAGAAGGGACAGAAGCGCTCACCCAGGGCTGTGAAGGGCAGACGGCTGTAGGAGCCATGGGGATGCACACCGTAGAGCTGCGGTCCAGTCAGGTCTACGCCGCCCACGATCAGCGATGCACCCACGTGGCCCTGGTACCTGCTCGAGGATGGGCGGGGTCGGCCACAAGCTGGGGCCTAGGCCCCACCTCTCTATGCCCAGCTCCTAGGTGCTATCCCCGCCCCTTCCTGTGGGCTGGCGCCCGATGACTGACATCGCCTTTTCCTGTAGCCCAGGTTCTCTTGGGCCGGCCTCTTCCGGTCACCTGGCCCGTCGCGGTCCCGCCCTTCTTTCTGTCCCGCCTTCCAATGGCCCCAACCCCGTAACTACCCCTGCCGGGGTCCTGTTAGCCCTGCCCCCGCACCTGAAGAGCGTCTGGCGCAGGATGCGAGTGACCGTGGCCACGCGGGGCTCGCGGCCCGTAGATAACGCGTGTAGCTCCATCTTGGACGCCACCATCCGTGTGGTCATCTCGGCGTCCGCGGCTACTCCAGCCCCACAGCAGCTGAGGCAAAAGGGAGGATCGGTGTGGGCAGGGCTGGGACGTGCGGGGACCGGAGTGGGAACGAGGGGGCCGTTCTTTTTTGCGTACGGGAACTGGGCTCGGGAGTCTCACTAGATTTTGGGGGCGATGAAGTGGATCTTCTCGCAGCTCTTGTCCGCCACGACCGAATCGTTAGTGGCTCGCGTATCGGCGCCCAGAATGACCCCGTCCTGAGGAGAGGGAGGGACCGCAGCTTCAGTGCCTGCTCGATACTCTCGGCTCCCCTCCAGCTCCCCGTCCCTCCCCGCTGCTCACTTGGAACACCAGGCCCGCGATGGTGGTCCCGGTCTTGCGTGCGTGAGGGACCTTGAGCCCCGGGAGGACGCGTTCCAATGATGCATTTCTGGAAACGGAGGAGGGCGCCCATGTTTCGGCTCTGCTTTCAAGACCCCTGTTGCTTCCCCTAACCTGGTCCCCGTCTCCCTCATCTTCCGGGGTAAGCCTGGAACCCAAGTCGACCAACACACCCTCCCCCACCCCCAGCCAGGAAAAAAGGCCACGAGCAAGCAGAGGCGGCTCAGGAGTGACCGCCCCCCGCGCCCCCGCTTCACCTTTGGCAGTTCTCGGAGGAGAAGCCCCCTCGGGGCTCCAGGGCTGGCTTCAGCATCTTGGGGCAGGCAGAGGGGATTAGGGGTCGCGGGCGGATGAGTCGGCCAGACAAGCGGGGCCAGTGAGCAGCTAAAAAGTCCTCTGCTAGGCTTCACGTCTGTACTTCCTGCTTTCGCTTTCGCCTTTACCCTTCCTCAAAGGCCCGTGGCGGTTTTCTGCATCTTGTCTTTCACTTTTGGCTTCACTTGTGGCTCTGAGCATTTGGGGAACCGGGTGATGTCCCTTGCTGTGCCCTCTGTGCTGCTCACTGGGTACTCTGTTGGATAGAGGGACAAATCTCTTCCCTTCTGGACTTGTTCAGGTCCTCCTCCCCCTCCATCTGAGCCCCTTGCTCTTACCCTAGCCTCAACTCTGACCTCCAGTCCCAGCATAGTAAAGCTCTCAGAGCCTTGGCCAAGTCAGCATTGTTGCTGGCCACCCAGTAGCATCAGGCATAGCTGACTTTTGTTCCTTGTCACCTTTCTTCCAACTCTTGCCTCTTTTGTTGCCTTTACTCCTCTGCAAAAACCTCAAACAGAGGCTCAGTCCTCAGTCACAGGGACCCTGGTCTTTCCATCTTCCATCTCAGGTGCCATCTTCCCTCTCTCAAGAGGGCACCATGGGTGTTGGGTTCCACTCATGGCCAAGCCTTGTTATTTCACCTCCCCAGTGACCTCTTGTCTGCACACATCCTTTTCCTAGCACTTCTAGTCTCAGCTAGCATCCTCTCCCACCTGGACATTGCACTGGCCTCCCTGGTTACCTTGCAATTCTTGCCCCCCGCCCCCCGACCCCCAGGCTACTCCTTACCCTGCAGAGAGCGGGTCTTTCTAAATTGGAAATCTGGTCACATTCTTTCTCTGGTTTAAACCCTTCAGCAGTCTGGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGCCCAGGAGTTCGGGGCTGCAGTGAGTATGGATCATACCATTGCACTCCAGCCTGGGCAATAGACCCCGTCTCAAAGGGGGAAAAAAAAGACTTGGGTTTGAGGCTAAGAGCAGCACGCAGCTGCCAAAGGGTTTATCTTAATTTTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTCGGTTCACTGGAACCTCTGCCTCCCAGGCACAAGCACTCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA
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Task1_train_22825
|
This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; LCAT deficiency
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TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGG
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TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCACGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGG
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Task1_train_22826
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Consider a variant on Chromosome 16 in gene LCAT (lecithin-cholesterol acyltransferase). Determine its clinical classification and disease relevance.
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Pathogenic; Norum disease
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AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
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AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCATGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
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Task1_train_22827
|
Given this variant in gene LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Fish-eye disease
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AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
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AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCATGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
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Task1_train_22828
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Assess the clinical impact of this variant on gene LCAT (lecithin-cholesterol acyltransferase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Norum disease
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GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
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GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCATGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
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Task1_train_22829
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A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Fish-eye disease
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GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
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GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCATGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
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Task1_train_22830
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This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; LCAT deficiency
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TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCAC
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TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCATACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCAC
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Task1_train_22831
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A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; LCAT deficiency
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CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTC
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CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCATATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTC
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Task1_train_22832
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A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; LCAT deficiency
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CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCA
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CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACTTCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCA
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Task1_train_22833
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A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; LCAT deficiency
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TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAG
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TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGTTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAG
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Task1_train_22834
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A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; LCAT deficiency
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CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCC
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CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAGGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCC
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Task1_train_22835
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This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; LCAT deficiency
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CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGG
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CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCGGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGG
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Task1_train_22836
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This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; not provided
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CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGG
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CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGTGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGG
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Task1_train_22837
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Here is a variant affecting LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Fish-eye disease
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TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCA
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TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATCGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCA
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Task1_train_22838
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Located on Chromosome 16, this mutation impacts LCAT (lecithin-cholesterol acyltransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Fish-eye disease
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AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
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AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTATGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
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Task1_train_22839
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A genomic change on Chromosome 16 affects LCAT (lecithin-cholesterol acyltransferase). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Norum disease
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AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
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AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTATGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
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Task1_train_22840
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A variant found in Chromosome 16 affects LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Norum disease
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CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
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CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCAGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
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Task1_train_22841
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Chromosome 16 houses a mutation in gene LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Fish-eye disease
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CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
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CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCAGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
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Task1_train_22842
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With a mutation on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
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GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGACGTGCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGGTTTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTGTTTCTCATCTATTTGTGTAAGAATTCCATGTTTACTTACTCTAGATAACTTCAAAAGAAAAAAAACTCTGGCCAATAAAATGCCATAGGAATGTTTAGGGATATGTGGAGTAGGCATTCTTTCTAAGTTTTCCTGAAGATGCACCAATGTTTAACAAGAAAGGAAGGGCAGTGTAGAACACCTATTGCTTTCTGCATGGTAAGAGGGATGGGTATTGGGAGAGCCCACACCTGCTGAGGAGTGCCTTTAGACTTTGAGCGGTGGTGTTTCTCTCCCTCCCAGAAATAGATCTCTTTGGGGAGACAGGCCATACAAGACGTGAATCTGGTGACATTTTACTTGTTTGAAGCAAAATTTTTTTAGATGATGGAGGGTTTTTAAAAATTGCTTTTAAAATTAAAATTTGAATAGATAAGAAGTAATCACTATAAAAAATAATGAAGCATAAGGAATGCTAGTATTAGCTGGGTGTGGGGCACTCACTTGTAGTCCCAACTACTGGAGAGGCTGAGGCAGGAAGAATGCTTGAGCCCAGGAGTTTGAGTCCAGCCTGGGCAACATAACGAGACCCCATCTTTTAAAAAAAAAAAAAAAGAAAAAGAATGCTAATATCGTGAACATTTATGTTCCCACCACCCAATTTAAGAAAAAGAACAATACTTTTGAAGTCCACTGCGTACCCCTCCTTGATCCCATCTCTTTCCCTTCTCTTTTAGGAGTTAACTATCCTGATTCCTTGCTATGCTTTTTAGTGTGATCCCTGAAGAACGTATCACTCCATTTTGCATAGCTATAAATTTCATAGAAATGGAATCGTATTGCATGTGTTGTGTGATTTGCTGTTTTTGCTCATCATTATATTCCTGGGATTATCCATTTTTAGGTTTATGTGTGACTGTAATTTATTGTTTAGATGAAAGTTTTCCTGGTTTGACTTGCTCTATCTTCATATTTTTCCTTAAGCTAAGGGTTCAGCATACGAAGGCAGTATTGGTGGCACTTCTTTAACAGTACCCCATCTCTTCTCCTAGCCTTGAGGGCTGCACCTAGATGAACTTGTGAGGCTCATTTGAACCTTTTGGAAGCACCGAAGCCTGCTGAAGTTTCCAGACATCTGTATGAATCTGTTGTAGTTTTTTAATGTTATATGCTGAATATAAAACCAAGTAACTCCTGCTGGAAACATTTACAATATCGATTAACAAATACTATCAGTGGCTTTGACATTTTTGTCAGTTTCTTGATTTTTTTCCCCGCTTTTGTCTCCCCTTCCCCCCTCCACATTTTGGGGCATTGTGCTGTTAATAGATTTTTTTTCTGTTCGTTTGTTTATATACCTCCTGTTTCCTTCTGATGTTAATAGATTTCTGACAGTCAGACTTGTCCACAAGAACTCAACTGGCAAGGCTGCTTTTCTGTGCTAAAACTGGGGAGCTAGTGGGCACCATGAAGATCTTCTGCAGTCGGGCCAATCCGACCACGGGGTCTGTGGAGTGGCTGGAGGAGGATGAACACTATGATTACCACCAGGAGATTGCAAGGTACTGGGTTGGTTTACAGCAGGCTGCAGCTGGGTGGGGCACTTGATCTCAAAGCAGATGCCTTGGGCTCCAGTCTGAGCGTGGGCTAGGCTGTCACCCAGTGCTTATGATGAGGGCTGGTGTTGGTCCTGAGCAGGTCTGCTCAGCCAGGTAGGTATATGTAGCAGTTAGGCAAAATCATGCCTGTTTGGAGAGTCAGACATTATGTAGCAGCCTTAGCAGAGCCTCAGCATCTGTTTAACGGAGCAAAGAAAACCCAAGCCTCAGTAGTGTTGATGAAGTTGAATCATTTACTTGCCTTACTGAAATGGTGACATGTTCATCATATGGTTAAATTCTTTTGAATGAAAAAAATGAAAATGGTTTTTTTTTTCCCTTAGAAGAAATATTTAAAAGTATGTGAGTTGTTGGCCAGGCGCAGTGGCTCACGCCTCTAATCCTAGCACTTTGGGAGGCCGAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGTGTTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAGTATGTGAGTTGTTATGTAGCAATCATTAAGTGCATTCAGTGTGCCAGCATTGTGCTAAGGCTGTGGATACCAGATGAAGAAGATCCTGTTCTCATCTTCAAGGACCATGCAGTTTTGTGGAAGAGACAGGCACATACAAAATTACAGCACAAAAGCCAGGCACGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCAAAGGGCGGGCGGGCGGGCGGTGGAGGGGGTGGTGGCGGCTGATCACTTGAGGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTATAAAAAAAAATTAGCTGGGAGTGGTGGTGGGCGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTACAGCACAGTGAGATAAAGGCACAAGAGGTCATGGAAGCAGCAAGAACCAGCTGAACTTGGGGTGGGAGGTAATGTTTGAATAATTTCTCAGTTCTAAAGGAAGAGAAGGTGAAGTTTGAGCAGCAGGGATTACAGGTAAGCTTTCAGATGAGCCAGATTGTGGCTGGGTGCAGTGGCCTACACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGCAGGAGGATTGCTTATGCCCACGAGTTCAACATAGTAAAACACTGTCTCACAAACAAACAAAGACCAAAAACAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCATGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGCTAAACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAACCACACACACACAGATGGGCTATTCTGGGGAGCAGCTAGCAGTTTAGTGCAGCTGGAGTGTGGTACAAAAGTACTATGGTAAGAGAGGCTGCCGAAAGCATACGCGGGGTCATTTTGTAAAGGGTGGTAGCAAAATGCAGGAAGAGGAACATGAGTTTAAGTCCAAGCTTTGCCACTTCTTTACTCTCTTGGCCAAGTTACTTCTCTGAGCCTTAATATAAAATAATATATACTTCAATATAGTAATACATTATCTCACAGTATAATA
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GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGACGTGCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGGTTTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTGTTTCTCATCTATTTGTGTAAGAATTCCATGTTTACTTACTCTAGATAACTTCAAAAGAAAAAAAACTCTGGCCAATAAAATGCCATAGGAATGTTTAGGGATATGTGGAGTAGGCATTCTTTCTAAGTTTTCCTGAAGATGCACCAATGTTTAACAAGAAAGGAAGGGCAGTGTAGAACACCTATTGCTTTCTGCATGGTAAGAGGGATGGGTATTGGGAGAGCCCACACCTGCTGAGGAGTGCCTTTAGACTTTGAGCGGTGGTGTTTCTCTCCCTCCCAGAAATAGATCTCTTTGGGGAGACAGGCCATACAAGACGTGAATCTGGTGACATTTTACTTGTTTGAAGCAAAATTTTTTTAGATGATGGAGGGTTTTTAAAAATTGCTTTTAAAATTAAAATTTGAATAGATAAGAAGTAATCACTATAAAAAATAATGAAGCATAAGGAATGCTAGTATTAGCTGGGTGTGGGGCACTCACTTGTAGTCCCAACTACTGGAGAGGCTGAGGCAGGAAGAATGCTTGAGCCCAGGAGTTTGAGTCCAGCCTGGGCAACATAACGAGACCCCATCTTTTAAAAAAAAAAAAAAAGAAAAAGAATGCTAATATCGTGAACATTTATGTTCCCACCACCCAATTTAAGAAAAAGAACAATACTTTTGAAGTCCACTGCGTACCCCTCCTTGATCCCATCTCTTTCCCTTCTCTTTTAGGAGTTAACTATCCTGATTCCTTGCTATGCTTTTTAGTGTGATCCCTGAAGAACGTATCACTCCATTTTGCATAGCTATAAATTTCATAGAAATGGAATCGTATTGCATGTGTTGTGTGATTTGCTGTTTTTGCTCATCATTATATTCCTGGGATTATCCATTTTTAGGTTTATGTGTGACTGTAATTTATTGTTTAGATGAAAGTTTTCCTGGTTTGACTTGCTCTATCTTCATATTTTTCCTTAAGCTAAGGGTTCAGCATACGAAGGCAGTATTGGTGGCACTTCTTTAACAGTACCCCATCTCTTCTCCTAGCCTTGAGGGCTGCACCTAGATGAACTTGTGAGGCTCATTTGAACCTTTTGGAAGCACCGAAGCCTGCTGAAGTTTCCAGACATCTGTATGAATCTGTTGTAGTTTTTTAATGTTATATGCTGAATATAAAACCAAGTAACTCCTGCTGGAAACATTTACAATATCGATTAACAAATACTATCAGTGGCTTTGACATTTTTGTCAGTTTCTTGATTTTTTTCCCCGCTTTTGTCTCCCCTTCCCCCCTCCACATTTTGGGGCATTGTGCTGTTAATAGATTTTTTTTCTGTTCGTTTGTTTATATACCTCCTGTTTCCTTCTGATGTTAATAGATTTCTGACAGTCAGACTTGTCCACAAGAACTCAACTGGCAAGGCTGCTTTTCTGTGCTAAAACTGGGGAGCTAGTGGGCACCATGAAGATCTTCTGCAGTCGGGCCAATCCGACCACGGGGTCTGTGGAGTGGCTGGAGGAGGATGAACACTATGATTACCACCAGGAGATTGCAACGTACTGGGTTGGTTTACAGCAGGCTGCAGCTGGGTGGGGCACTTGATCTCAAAGCAGATGCCTTGGGCTCCAGTCTGAGCGTGGGCTAGGCTGTCACCCAGTGCTTATGATGAGGGCTGGTGTTGGTCCTGAGCAGGTCTGCTCAGCCAGGTAGGTATATGTAGCAGTTAGGCAAAATCATGCCTGTTTGGAGAGTCAGACATTATGTAGCAGCCTTAGCAGAGCCTCAGCATCTGTTTAACGGAGCAAAGAAAACCCAAGCCTCAGTAGTGTTGATGAAGTTGAATCATTTACTTGCCTTACTGAAATGGTGACATGTTCATCATATGGTTAAATTCTTTTGAATGAAAAAAATGAAAATGGTTTTTTTTTTCCCTTAGAAGAAATATTTAAAAGTATGTGAGTTGTTGGCCAGGCGCAGTGGCTCACGCCTCTAATCCTAGCACTTTGGGAGGCCGAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGTGTTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAGTATGTGAGTTGTTATGTAGCAATCATTAAGTGCATTCAGTGTGCCAGCATTGTGCTAAGGCTGTGGATACCAGATGAAGAAGATCCTGTTCTCATCTTCAAGGACCATGCAGTTTTGTGGAAGAGACAGGCACATACAAAATTACAGCACAAAAGCCAGGCACGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCAAAGGGCGGGCGGGCGGGCGGTGGAGGGGGTGGTGGCGGCTGATCACTTGAGGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTATAAAAAAAAATTAGCTGGGAGTGGTGGTGGGCGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTACAGCACAGTGAGATAAAGGCACAAGAGGTCATGGAAGCAGCAAGAACCAGCTGAACTTGGGGTGGGAGGTAATGTTTGAATAATTTCTCAGTTCTAAAGGAAGAGAAGGTGAAGTTTGAGCAGCAGGGATTACAGGTAAGCTTTCAGATGAGCCAGATTGTGGCTGGGTGCAGTGGCCTACACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGCAGGAGGATTGCTTATGCCCACGAGTTCAACATAGTAAAACACTGTCTCACAAACAAACAAAGACCAAAAACAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCATGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGCTAAACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAACCACACACACACAGATGGGCTATTCTGGGGAGCAGCTAGCAGTTTAGTGCAGCTGGAGTGTGGTACAAAAGTACTATGGTAAGAGAGGCTGCCGAAAGCATACGCGGGGTCATTTTGTAAAGGGTGGTAGCAAAATGCAGGAAGAGGAACATGAGTTTAAGTCCAAGCTTTGCCACTTCTTTACTCTCTTGGCCAAGTTACTTCTCTGAGCCTTAATATAAAATAATATATACTTCAATATAGTAATACATTATCTCACAGTATAATA
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Task1_train_22843
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Consider a variant on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7). Determine its clinical classification and disease relevance.
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Pathogenic; Neurodevelopmental abnormality
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TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGGGAGACTCCGTCTCAAAAAAAAAAATTGTGGTAAAAACACATAACATAAACGGTCATACTGATTGTATCTAAGACATAAATGCACTTACTTTGACAATGAAATAGTTCTATATTTCTGTGAAAAATTATTTCACCCAGACTAAACATTTTTGTGCTTTACCTCAGAGGCAACGTCATTTCTTTTTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTAACAAGAATGAGTCTCCCTCTGTTGCCAGGCTTTAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCCAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGTCACTGCACCCGGCCTGGTAATTCTAAAGAATATTCAGTTCTAGATATTTTCTAATTCCAGTCTGATTTAGTCTTTTGCCTATCAGTTTAGAAGTGTGTTTCTTAATGTATGAAAAATTTTTTTTCTTCAGTTGTGTTTCTGATATTAAGATTTTTGACTTGTTTTGCATTGTGGTCAGAGGATATCACCCTTTTGATGCCAGTTCTGTATTAGCTGTCTAATGTTATTTAACAAATTACCTTAAATTTTAATAGCCTCTTAATATTTCTTACTAACTTGGCAGGTCATCAGTCTATTTAAAAGATTTGCACATATTTTTTCCATCATCTTTAGTTATTTTCAACAGAAGGGTCACTGTGCCTATTGAGTCAGACCGTTATAGATGAAAGATGTATGTGTTTACTAAAGACAGAAGTAAAAATCTTCAAGATGCAAAGAAGTTATTTTCTGATGGGGAAAATACTTTTTAGTGAAGCTCTCTGAGTTAGAGTCGGTAAAGGAAAACAAGCCATACATATTGCAGCAGAGCGGCTTTAACACAAGGAGCTGGCTACCCAGCTGTGGGAGGGCTAGAAAGCAAATGGGAACGCTGAGTAACCTAACAGTAGAGATTGCAGGGAGCAGTTACCTTGCCTAGGGCTGAGAAACTAAACGAGAAGATTAGGATTTCCAGAAGCCACAAGCATTGAGGAGAGATCCTGTGGACCACTGTCCAAGTACGGCTGCAGCTCTGAGGGGCCCAAGGAGCTGGTTATGGGATCATTGGGAAAAGTTGGAGTCTGCAATCAACTGCCCCTACCGAGAGGACCCTGATGAGAACAGCAGCATGCAGAAAGGAGCAAGCCTGCTCTGTCCTCCTACCTTCCAGTCGCCCTCTTGGTCCCCCTTTTGGCTGTACCTAACAGTTGGAAAAAGGAGAACATGGTTTGCAGGGCTCTGGCATCACTTAGTAGAGGATAGAAGAGTGAGTGTGGAGCAGGGACAGTCGCTTAATAAAGGGCAAGGGGCTGACTCACAAGACCTGCCCAACTCAGCCAGAGCTGTTCTGCCAGGGGCCAGAAAGGCCATAGGGCCCTGACTTGCACTGCCACTGCCAGCTGTGACTCTAGAACTTTGCAAAGCACCTTTCCACTTACTTATAATAACTGGTAGTAAGTGACGGCCATGTCTTCCTTAGAATGTAAAATACTACCAAGGTATCCGGGCTGCCGTGAGCAGGGTGAAGGACAGAGGACAGAAGGCCTTGGTTCTCGACATTGGCACTGGCACGGGACTCTTGTCAATGATGGCGGTCACAGCAGGTGCCGACTTCTGCTATGCCATCGAGGTAAGCCATTCCCTTCAGGTGTGTGTCCTGCATCTTGCATGGGAAATCCCCTATGCTCTTGCACTTTCCCCGTCTGTTCCTTCACAAACATTCATGGAGTGCTCACTCTGTGCCAAGCACAGAGCCAGGCTCTGAGCGTATAGAGATGAGTCAGACACAGTTCCTTCCTCCAGGAGCTAATTTTCTCCTCTGTCAGCCTAGGCTGCACATCAGAATCACTAGGAGCTTTAGAAAATACTTACAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGGTGAGGCAAGACAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCTACAGAAAAACTTTTAAATATTAGCTGGGCATGGTGGCATGTGCCTGTGTTCCAGCTATTCTTGAGGCTGAGATGGGAAGATCTCTTGAGCCCGGAAAGTCAAGGCTGCAGTGAGCCATGATTTGGACTTCATGTAAGAAAGCAAAAAATTACTTCTACCTTGTTTAAGCCAGTTATTGTGGGACTTTGTTGTTTCCAACTAATCAGTATATGAACTCAGTTTTGTAGGGGAAAGTATTTAAATACATGCCCCCACACCACCACACTCCAGCCTGGGTGACAGAGTGAGACTTTATCTCAAAAAAATCAAAACGAAACAAAGGCTGGGCACAGTGTCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATCTTTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAACAAAACAAAACAAAAAAACCTTATGCCTAGTCCCCAGCCCTAACAGATTTTGATTTAACTTTTCTGGGGTGAGGCCTGAGCCTTGGGACTTGGGAATGTGCGGCAAGGTTGAGAACCACTACCTTAAATGTCCCTATGGAGTCAGCTCTCTTATGTTTACCAATTTGTCATTTCTTTAATAAAACATTAAACAGCTTGAGCCCACAGAGCAAGAAAAATTAAAAACCAAACAAAATTAAAAATTAAACATGTTATTTTTCTCATAAAACAAATAATGCATATTATTATAGGAAATTTGGTAAATACCAAATAAAAATAGTATGTTGACCCAAAGTTAAGTACTGTTAACATTTTGGTGTATATTCTTCCAAGTTTTGGGGGCAGGCAGGGAGCATGTATATAAATACTTTCCCTACAAAATTGGGTTCATGTAGTGATTGAGTTGGAAATAACAAAGCCTCAAAATCACTGTGGTTTAAGGTAGAGTAGTTTTTTGCTATCTTTTTCGTGGCGTGATCTCTATTCACCGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTTTTCTCAGCCTCCCAAATAGCTGGGATTACAGGTATGTACCACTGCACCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGATCTCAGGGGATCCCCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAATCACTGCGCCCTGCCTTGTTCCTCTTTTTTAAAAGTAAGAATAACTTTCCCAGGAATTTCTATTATAGCAAACCTCTCCTTGGGTACCATCGGCTAGAATGAGGTTAAATCTCATTTCTTATCTCTGGCAAGAGGGATTCAGTTACTCTTAGCTCAGACAAGTGCACCACTGCAAAGGTCAGTTCCCCACGCTGCACCCTCACCTGATTTCAGGG
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TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGGGAGACTCCGTCTCAAAAAAAAAAATTGTGGTAAAAACACATAACATAAACGGTCATACTGATTGTATCTAAGACATAAATGCACTTACTTTGACAATGAAATAGTTCTATATTTCTGTGAAAAATTATTTCACCCAGACTAAACATTTTTGTGCTTTACCTCAGAGGCAACGTCATTTCTTTTTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTAACAAGAATGAGTCTCCCTCTGTTGCCAGGCTTTAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCCAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGTCACTGCACCCGGCCTGGTAATTCTAAAGAATATTCAGTTCTAGATATTTTCTAATTCCAGTCTGATTTAGTCTTTTGCCTATCAGTTTAGAAGTGTGTTTCTTAATGTATGAAAAATTTTTTTTCTTCAGTTGTGTTTCTGATATTAAGATTTTTGACTTGTTTTGCATTGTGGTCAGAGGATATCACCCTTTTGATGCCAGTTCTGTATTAGCTGTCTAATGTTATTTAACAAATTACCTTAAATTTTAATAGCCTCTTAATATTTCTTACTAACTTGGCAGGTCATCAGTCTATTTAAAAGATTTGCACATATTTTTTCCATCATCTTTAGTTATTTTCAACAGAAGGGTCACTGTGCCTATTGAGTCAGACCGTTATAGATGAAAGATGTATGTGTTTACTAAAGACAGAAGTAAAAATCTTCAAGATGCAAAGAAGTTATTTTCTGATGGGGAAAATACTTTTTAGTGAAGCTCTCTGAGTTAGAGTCGGTAAAGGAAAACAAGCCATACATATTGCAGCAGAGCGGCTTTAACACAAGGAGCTGGCTACCCAGCTGTGGGAGGGCTAGAAAGCAAATGGGAACGCTGAGTAACCTAACAGTAGAGATTGCAGGGAGCAGTTACCTTGCCTAGGGCTGAGAAACTAAACGAGAAGATTAGGATTTCCAGAAGCCACAAGCATTGAGGAGAGATCCTGTGGACCACTGTCCAAGTACGGCTGCAGCTCTGAGGGGCCCAAGGAGCTGGTTATGGGATCATTGGGAAAAGTTGGAGTCTGCAATCAACTGCCCCTACCGAGAGGACCCTGATGAGAACAGCAGCATGCAGAAAGGAGCAAGCCTGCTCTGTCCTCCTACCTTCCAGTCGCCCTCTTGGTCCCCCTTTTGGCTGTACCTAACAGTTGGAAAAAGGAGAACATGGTTTGCAGGGCTCTGGCATCACTTAGTAGAGGATAGAAGAGTGAGTGTGGAGCAGGGACAGTCGCTTAATAAAGGGCAAGGGGCTGACTCACAAGACCTGCCCAACTCAGCCAGAGCTGTTCTGCCAGGGGCCAGAAAGGCCATAGGGCCCTGACTTGCACTGCCACTGCCAGCTGTGACTCTAGAACTTTGCAAAGCACCTTTCCACTTACTTATAATAACTGGTAGTAAGTGACGGCCATGTCTTCCTTAGAATGTAAAATACTACTAAGGTATCCGGGCTGCCGTGAGCAGGGTGAAGGACAGAGGACAGAAGGCCTTGGTTCTCGACATTGGCACTGGCACGGGACTCTTGTCAATGATGGCGGTCACAGCAGGTGCCGACTTCTGCTATGCCATCGAGGTAAGCCATTCCCTTCAGGTGTGTGTCCTGCATCTTGCATGGGAAATCCCCTATGCTCTTGCACTTTCCCCGTCTGTTCCTTCACAAACATTCATGGAGTGCTCACTCTGTGCCAAGCACAGAGCCAGGCTCTGAGCGTATAGAGATGAGTCAGACACAGTTCCTTCCTCCAGGAGCTAATTTTCTCCTCTGTCAGCCTAGGCTGCACATCAGAATCACTAGGAGCTTTAGAAAATACTTACAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGGTGAGGCAAGACAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCTACAGAAAAACTTTTAAATATTAGCTGGGCATGGTGGCATGTGCCTGTGTTCCAGCTATTCTTGAGGCTGAGATGGGAAGATCTCTTGAGCCCGGAAAGTCAAGGCTGCAGTGAGCCATGATTTGGACTTCATGTAAGAAAGCAAAAAATTACTTCTACCTTGTTTAAGCCAGTTATTGTGGGACTTTGTTGTTTCCAACTAATCAGTATATGAACTCAGTTTTGTAGGGGAAAGTATTTAAATACATGCCCCCACACCACCACACTCCAGCCTGGGTGACAGAGTGAGACTTTATCTCAAAAAAATCAAAACGAAACAAAGGCTGGGCACAGTGTCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATCTTTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAACAAAACAAAACAAAAAAACCTTATGCCTAGTCCCCAGCCCTAACAGATTTTGATTTAACTTTTCTGGGGTGAGGCCTGAGCCTTGGGACTTGGGAATGTGCGGCAAGGTTGAGAACCACTACCTTAAATGTCCCTATGGAGTCAGCTCTCTTATGTTTACCAATTTGTCATTTCTTTAATAAAACATTAAACAGCTTGAGCCCACAGAGCAAGAAAAATTAAAAACCAAACAAAATTAAAAATTAAACATGTTATTTTTCTCATAAAACAAATAATGCATATTATTATAGGAAATTTGGTAAATACCAAATAAAAATAGTATGTTGACCCAAAGTTAAGTACTGTTAACATTTTGGTGTATATTCTTCCAAGTTTTGGGGGCAGGCAGGGAGCATGTATATAAATACTTTCCCTACAAAATTGGGTTCATGTAGTGATTGAGTTGGAAATAACAAAGCCTCAAAATCACTGTGGTTTAAGGTAGAGTAGTTTTTTGCTATCTTTTTCGTGGCGTGATCTCTATTCACCGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTTTTCTCAGCCTCCCAAATAGCTGGGATTACAGGTATGTACCACTGCACCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGATCTCAGGGGATCCCCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAATCACTGCGCCCTGCCTTGTTCCTCTTTTTTAAAAGTAAGAATAACTTTCCCAGGAATTTCTATTATAGCAAACCTCTCCTTGGGTACCATCGGCTAGAATGAGGTTAAATCTCATTTCTTATCTCTGGCAAGAGGGATTCAGTTACTCTTAGCTCAGACAAGTGCACCACTGCAAAGGTCAGTTCCCCACGCTGCACCCTCACCTGATTTCAGGG
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Task1_train_22844
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A variant found in Chromosome 16 affects PRMT7 (protein arginine methyltransferase 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
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TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACC
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TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTATGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACC
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Task1_train_22845
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The following genetic variant occurs in PRMT7 (protein arginine methyltransferase 7) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
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CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACCATTTGCCGGAAAATTCAAAGCGGAGAATGCAACTTTGAGAGATTTTTTTTTCCTGACAAACA
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CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACGGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACCATTTGCCGGAAAATTCAAAGCGGAGAATGCAACTTTGAGAGATTTTTTTTTCCTGACAAACA
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Task1_train_22846
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Given this variant in gene CDH3 (cadherin 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; EEM syndrome
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TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCTAATGCGAAGCTCTTGAGAGCATGGCAGCCACAGGGAATGCAGCAAAGACTGGAGTGTTAGAACATGGCTGATGGAGGCTGGGCGCGGTGGCCCACGCCTGGAACCCTAGAACTTCAGGAGCCTAGGCAGGCACATCACTTGAGATCAGGAGTTTAAGACCAGCTGGGCCAACATGGTGAAATCCTATCTCTACTAAAAATATTAAAAAATTAGCCGGGCGTGGTGGCGGGCACTTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTGATAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAGAGTTCCAGAAGTAGACAGGGCTGGAGTTGGAACTGGGAGGAAAAGATACTCATCCCTTCTCTCCAGGTACTTCTGTGATGCAGGTGACAGCCACGGATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAAGAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGCGTCATCTCCAGTGGCCTGGACCGGGAAGTGAGTGGCCCTTAGGGAAAGTACTGCCTACCCAGACTTGCCCAGGCTGGGAACTGACTCTGAGAGCAGAAGCTCCTATCCCTGCCCACAAAGCCCAAGGCAGAACAGTGAGGACCCACGTCAGCTGGGATGGCCACTGCTGGGTTCACATGCCATGCCCCTGGTTCCTTGGGCCTGTGGCCCGCTGCCAGCCAATCTCGTTAAATCTCCTCCAGGGCTGGGAGGCAGCTGTAAAATGCCTACTTTTGGTATTTTCTGTAGGTTTTCTCATTTCCTCTCAGAGTGGCTCACTTAGTGTGCACATTACCCAAATTGGTCCCTTATGTGCCACAAAGTAGAATTAGCTCCATGGATACTGGATTTGCTGCCTGTTTCCTAATTGATACCTTTATCCAAATCCTCACTCAAAACTCTTTTTCTGAGGCCAGGCACAGTGGCTCACGCATGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCAAGATCACGCCACTACACTGCAACCTGGGCGACAGGGCAAGATCCTGTCTCAAAAACAAAAGCAAGACTCATTCTGGAGCAGTTAAGGGTCAGGGGGCGATGCCAAGGCTTCCCTAGGACAGGCCCAGGAGAACTATTTGGATCACTCGTTCCCTCTCCAACAGCATCCTCTGCTTCTGTTCTCCTGGCAGTGGGTGAGGGGTGGTCAAGGAGTCAGCGTTATGATAGGGAGAGATCCTCCTCTCCATCCACACACCCATGAGCCAGTGCTTCCTGGAGGTCAGGGGAGGGACCCTTCAGATTAAACTCACAATGGGCTTCCCCTCTCCTTTCTCCCCAGAAAGTCCCTGAGTACACACTGACCATCCAGGCCACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGGCAGTAGTGGAGATCCTTGATGCCAATGACAATGCTCCCATGTTTGACCCCCAGAAGGTAATGCCCCTTCCTCACTCAGTCCCTCATCAGATAATGAAGGACCAAAGTTTGCCTTTCTCAGGAAACTGGAACCAGTCTATATTGCTTCAAATGCCAGTCTCAGCACTATGGCTGTGTGACCTTAGGAAAACTACCTAACCTCTCTGTGCCCCATTTCCTAATCTGTGAAAAGGAGATAATGATAATACCTGCTGCATTGTTCTGAGTTTCAAATGAAATAATCTATGTACGTTTCCTAACACGATGCCCTAAAAGAAGTGCTTGATATGAAAATCTTTGTTGATTTGAAAACATATTTTCCTTGTACCTACACCTGCCCATCTTTTCCCAGTGAATGCTTGTGTACCTCCAAGGCAGAGGACTCAGTGCCAATCAAGGTGCCAATTACATCCTCCCCCTTCCATCTTTAGACAACTCTGAACGTTAATTAGGTCTGAATAAAAATTTGTAATGACGCCAGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACTTTTGAGGCCAGGAGTTCAAGACGAACCTGGCCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGTGCAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGACATGAGGATCGCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGCGGCAGACTGAGACTGTCTAAAAAAATAAAATAAAAATAAATAAATAAATTTTTTGTTCCGAGCAACTGATTTTCCAGTCTTTGTCACATGTCCCAGAACCTCCAAAAAATTTCTGTTCAGTGCCCCAGCCCATTCAGGCACCTAGCCCTTCTTGCCACCTTCCTTATTCCTTTCTGATCTCAGCTGGATAGATAGCTACACGTGGCAGGGGCTTGGGCATGCAAACCCGTGAGATTTCTGGAACATCAGGCCCCTGCGTGTAGGGAAAGCAGGCACAGGATTGGTGTGGTCTGTGCCAGCAGCTGTGAGGCTGCTGCTGGGGACATCCTGCCGCTGTGTATACCCTGAAACCCCGCAAAGTGGGTGGGTGGTCCAGGAAAGGGTAAAGGCATGGGGATCCCCTGAGGTTGGATGGAGGCTTCTCAGCCTCTGGAGTAGGACAGTCATTCTCTGCTCTGATAGTGCTGTGCTTCTCACACTGACAGTACGAGGCCCATGTGCCTGAGAATGCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACCACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAGGTGAGTCAGTTCGGGCCTCAGACAATGGCTATACCTGGGGCAGTCAGGTCTGCAGCCTTCAGGATGAGGAGCCACTGTCTACCGTGGGCTAGTCCAGGAATCGTACCAGCCCAGTGGCTCCCAACACTGTTCTACCACTCTTGTGTTGGGAAGTCCCTTTGTTCAAACTAAATCTTACCCAGGAGCCCACTTCATAAATAGGTAAGAGTCACTGATTAATTGAAGCACATCAGTGGAGCCTCCTCCCAGACCACAGTGTCCAATGGCTGCCCCGAATCAGTCTCACATAGAGAGTCCATCTTATTGAAATCCATGTTGACTTTGCATTTACTCTAAAACTCATGTCTAGGTGTTTAGATAATAAAATGTTTTGAATCACTGAGGCACACTCTTGCCTCTCAAAAAGTCTCTTTTTTGTGTGTATGTATTTTTGTTTTTATTGGGGTATAGGACGTGGGTTGGGTCAAAAAGTCTGAATAAGGCTGGGCGCAGTGGCTCACACTTATTCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTCAGATGAGCCTGGTGAACATAGCAAGATCCCATCAGCACTAAAAAAGAAAAAAATGAAGATGGGCCT
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TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCTAATGCGAAGCTCTTGAGAGCATGGCAGCCACAGGGAATGCAGCAAAGACTGGAGTGTTAGAACATGGCTGATGGAGGCTGGGCGCGGTGGCCCACGCCTGGAACCCTAGAACTTCAGGAGCCTAGGCAGGCACATCACTTGAGATCAGGAGTTTAAGACCAGCTGGGCCAACATGGTGAAATCCTATCTCTACTAAAAATATTAAAAAATTAGCCGGGCGTGGTGGCGGGCACTTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTGATAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAGAGTTCCAGAAGTAGACAGGGCTGGAGTTGGAACTGGGAGGAAAAGATACTCATCCCTTCTCTCCAGGTACTTCTGTGATGCAGGTGACAGCCACGGATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAAGAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGCGTCATCTCCAGTGGCCTGGACCGGGAAGTGAGTGGCCCTTAGGGAAAGTACTGCCTACCCAGACTTGCCCAGGCTGGGAACTGACTCTGAGAGCAGAAGCTCCTATCCCTGCCCACAAAGCCCAAGGCAGAACAGTGAGGACCCACGTCAGCTGGGATGGCCACTGCTGGGTTCACATGCCATGCCCCTGGTTCCTTGGGCCTGTGGCCCGCTGCCAGCCAATCTCGTTAAATCTCCTCCAGGGCTGGGAGGCAGCTGTAAAATGCCTACTTTTGGTATTTTCTGTAGGTTTTCTCATTTCCTCTCAGAGTGGCTCACTTAGTGTGCACATTACCCAAATTGGTCCCTTATGTGCCACAAAGTAGAATTAGCTCCATGGATACTGGATTTGCTGCCTGTTTCCTAATTGATACCTTTATCCAAATCCTCACTCAAAACTCTTTTTCTGAGGCCAGGCACAGTGGCTCACGCATGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCAAGATCACGCCACTACACTGCAACCTGGGCGACAGGGCAAGATCCTGTCTCAAAAACAAAAGCAAGACTCATTCTGGAGCAGTTAAGGGTCAGGGGGCGATGCCAAGGCTTCCCTAGGACAGGCCCAGGAGAACTATTTGGATCACTCGTTCCCTCTCCAACAGCATCCTCTGCTTCTGTTCTCCTGGCAGTGGGTGAGGGGTGGTCAAGGAGTCAGCGTTATGATAGGGAGAGATCCTCCTCTCCATCCACACACCCATGAGCCAGTGCTTCCTGGAGGTCAGGGGAGGGACCCTTCAGATTAAACTCACAATGGGCTTCCCCTCTCCTTTCTCCCCAGAAAGTCCCTGAGTACACACTGACCATCCAGGCCACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGGCAGTAGTGGAGATCCTTGATGCCATTGACAATGCTCCCATGTTTGACCCCCAGAAGGTAATGCCCCTTCCTCACTCAGTCCCTCATCAGATAATGAAGGACCAAAGTTTGCCTTTCTCAGGAAACTGGAACCAGTCTATATTGCTTCAAATGCCAGTCTCAGCACTATGGCTGTGTGACCTTAGGAAAACTACCTAACCTCTCTGTGCCCCATTTCCTAATCTGTGAAAAGGAGATAATGATAATACCTGCTGCATTGTTCTGAGTTTCAAATGAAATAATCTATGTACGTTTCCTAACACGATGCCCTAAAAGAAGTGCTTGATATGAAAATCTTTGTTGATTTGAAAACATATTTTCCTTGTACCTACACCTGCCCATCTTTTCCCAGTGAATGCTTGTGTACCTCCAAGGCAGAGGACTCAGTGCCAATCAAGGTGCCAATTACATCCTCCCCCTTCCATCTTTAGACAACTCTGAACGTTAATTAGGTCTGAATAAAAATTTGTAATGACGCCAGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACTTTTGAGGCCAGGAGTTCAAGACGAACCTGGCCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGTGCAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGACATGAGGATCGCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGCGGCAGACTGAGACTGTCTAAAAAAATAAAATAAAAATAAATAAATAAATTTTTTGTTCCGAGCAACTGATTTTCCAGTCTTTGTCACATGTCCCAGAACCTCCAAAAAATTTCTGTTCAGTGCCCCAGCCCATTCAGGCACCTAGCCCTTCTTGCCACCTTCCTTATTCCTTTCTGATCTCAGCTGGATAGATAGCTACACGTGGCAGGGGCTTGGGCATGCAAACCCGTGAGATTTCTGGAACATCAGGCCCCTGCGTGTAGGGAAAGCAGGCACAGGATTGGTGTGGTCTGTGCCAGCAGCTGTGAGGCTGCTGCTGGGGACATCCTGCCGCTGTGTATACCCTGAAACCCCGCAAAGTGGGTGGGTGGTCCAGGAAAGGGTAAAGGCATGGGGATCCCCTGAGGTTGGATGGAGGCTTCTCAGCCTCTGGAGTAGGACAGTCATTCTCTGCTCTGATAGTGCTGTGCTTCTCACACTGACAGTACGAGGCCCATGTGCCTGAGAATGCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACCACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAGGTGAGTCAGTTCGGGCCTCAGACAATGGCTATACCTGGGGCAGTCAGGTCTGCAGCCTTCAGGATGAGGAGCCACTGTCTACCGTGGGCTAGTCCAGGAATCGTACCAGCCCAGTGGCTCCCAACACTGTTCTACCACTCTTGTGTTGGGAAGTCCCTTTGTTCAAACTAAATCTTACCCAGGAGCCCACTTCATAAATAGGTAAGAGTCACTGATTAATTGAAGCACATCAGTGGAGCCTCCTCCCAGACCACAGTGTCCAATGGCTGCCCCGAATCAGTCTCACATAGAGAGTCCATCTTATTGAAATCCATGTTGACTTTGCATTTACTCTAAAACTCATGTCTAGGTGTTTAGATAATAAAATGTTTTGAATCACTGAGGCACACTCTTGCCTCTCAAAAAGTCTCTTTTTTGTGTGTATGTATTTTTGTTTTTATTGGGGTATAGGACGTGGGTTGGGTCAAAAAGTCTGAATAAGGCTGGGCGCAGTGGCTCACACTTATTCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTCAGATGAGCCTGGTGAACATAGCAAGATCCCATCAGCACTAAAAAAGAAAAAAATGAAGATGGGCCT
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Task1_train_22847
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Gene CDH3 (cadherin 3) on Chromosome 16 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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AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAATCCCGTCTACGCTAAAAGTATAAAAAATTCGCTGGGGCCGGGCACGATTGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCATCGTGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGATCTCGGGAGGCGGAGGTTGCAGTGAGCTGAGTTCGCATCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCACACACCTGTAGTCCCAGCTACCCAGGAGGCTGAAGTGGGAAGATAGCTTGAGCCCAAGAAGGTCGAGGCTGCAGTGAGCCATAATGAAGCCACTGCACTTGAGCCTGGGTGACAGAGCAAGATCCTGTCTCAAATAATGGTCTCAAGCAATCCAGCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCAGGCCCCCCAGTTTTCTCAAACATCACCACCACTCCACTGGGAACCATTGATCTAGGGCTTATTAATACAGTTACTTTTAGGATGGTCTGAGAGGCCCCATTAGATGTGCACTCAGGAAACACGGGAGTGTTTATGTTACAGAGAAAGGGCAGCACTGTTGCTAGTGAGGGCCTCAAGCCCCTCAGTATTGGTGTTTTCCTTCTCACATCTCAACTGTCCTGCACAGGACCTCCTCTCAAAATGGTGGTCCAGGTCCTTCTTCCTCTTCTCTCCTAGGGTTTGGATTTTGAGGCCAAAAACCAGCACACCCTGTACGTTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTCCCAACCTCCACAGCCACCATAGTGGTCCACGTGGAGGATGTGAATGAGGCACCTGTGTTTGTCCCACCCTCCAAAGTCGTTGAGGTCCAGGAGGGCATCCCCACTGGGGAGCCTGTGTGTGTCTACACTGCAGAAGACCCTGACAAGGAGAATCAAAAGATCAGGTACTCAGGAGCTGGGCTCAGTAAGCAGCACGTACTGGTACAGTTGGTGGGTGGGTGATCATGGCCAACGTTTGTTCTGATTACCATAGAGATTGTTAAATAGGAATATCCCTCCTGCATAGGTTCTCTTCTTCCTACCCTCTTTGAGGCTGAAGACTGAATAGGGGTTTGGGGGCAGGTATTTCTCACTCTGTCATGTATCCCTCCTGGGACTCCTGCACCTGCTGCTTTAGGTCCCCGTTTATGGGCGAGGTGCATTTTCCATATGATCCTGCTTAGGAGCCCAGAGGCCATCTGCCAGTTGGTATGAGGAGGCCCTGAATGATGACATCAGAATTCTAAATATTCTGGATGTACTCGTCTCAACTTTTCCTCTCCAGCTACCGCATCCTGAGAGACCCAGCAGGGTGGCTAGCCATGGACCCAGACAGTGGGCAGGTCACAGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGAACAACATCTATGAAGTCATGGTCTTGGCCATGGACAATGGTGAGAGCATCCTCCCAGCCCTCCCACAAGGGCCACTTTTGGTTCTCAGGTCACATGACACAGCACAGCATGTTTCCTCCACAGGTGGGAACATGTGTCGAGGAGGGCTATTTGCAAACCAATCCAGACGGTCAAAGGGGTCTTTCAGAGGAGTCTTTTAAAGACTGGTCCTAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGTCGGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCCGGACGCAGAGGCAGAAGAATCACTTGAACCTGGGAGGTGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTATCTCAAAAAGCAACAACAACAAAAGACTGATCCTAGGGACTGGCCATGATTCCAATTTCCCTAAAACCCAAGAGTTGGGAGGGAGCCAGGTGTGGTGACTCAGGCCTGTAATGCTAGCACTTTGAGAGGCCTAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGGCCTGAGAAACATACAGAGACCCTGTCTCTACAAAAAATGAAAAATTAAAAAATAAGAGTTAGGGCCGGGCATGGTGACTCAAGCCTATAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGCAAAACACTGTCTCTACTAAAAACATAAAAAATTAGCTGAGTGTGCCGCCTCCCAGTTCCCGCATCAGTGGCCTGCACAGGGCCCTTGGGGCGAATTGCAGCACGCCTCGGGGCGAGCGGCAAGGGCTGGGGTGAGTGCACCTGCACCCAGGCGGTCTTTTCACGTGTCGCCAGGGTCAGACCGCATGTCTCTCCTTGCGGCGCTACACAAGAGCAGAGTACGAGTCTGAGGTGGAGGGAGTCATGGCAGGACAAGCATTTAGAAAGTTTCTTCCACTCTTTGACCGAGTATTGGTTGAAAGGAGCGCCGCTGAAACTGTAACCAAAGGAGGCATTATGGGTCCAGAAAAATCTCAAGGAAAAGTATTGCAGCAACAGTAGTTGCTGTTGGATCGGATTCTAAAGGAAAGGGTGGAGGGATTCAACCAGTTAGCGTGAAAGTTGGAGATAAAGTTCTTCTTCCAGAATATGGAGGCACCAAAGTAGTTCTAGATGACAAGGATTATCTCCTATTTAGGGATGGTGACATTCTTGGAAAGTACGTAGACTGAAATAAGTCACTATTGGAATGGCATCAACGTGAAGCTGCCCATTCCACTGAAGTTCTGAAACCTTTCATCATGTAAATAATTTCCATATTTCTCTCTTATAATAAACTAATGATAACTAATGACCAAAAAAAATAAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACCTTAACCCAGGAGGTGGTGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTCAAATAAGTAAATAAAACATCAGCATTAGGAAAGTCCCTTCAGCCTTAGTTTTTGGTTCACTGGGTCCTGAATTGGCCTGTCAGTTTTCCCTTGTGATTGATTGATAGGGGCTGACTGGAAAGTGCCATGACAGATTAGTGATGCCACACCATAACAGATGGGAGGTTATGACGTAGTTGTCACCTCTGGTTGACATGTAATGAACCAGGACCTGCAGGCAGGTGAGAGGTTGCAGCAGGGCTGTGAAGGGAAGCTTCCCTGAAGCTGATCGACAAACACTGGAGTAACCCTGAAGTAGCCGGTAGGTTTCGCCTTGTGGTTATAGTGGCTGTCTGGATGAAGTGGCTGCAACTGTGTCATGATAGTTAGTAA
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AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAATCCCGTCTACGCTAAAAGTATAAAAAATTCGCTGGGGCCGGGCACGATTGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCATCGTGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGATCTCGGGAGGCGGAGGTTGCAGTGAGCTGAGTTCGCATCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCACACACCTGTAGTCCCAGCTACCCAGGAGGCTGAAGTGGGAAGATAGCTTGAGCCCAAGAAGGTCGAGGCTGCAGTGAGCCATAATGAAGCCACTGCACTTGAGCCTGGGTGACAGAGCAAGATCCTGTCTCAAATAATGGTCTCAAGCAATCCAGCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCAGGCCCCCCAGTTTTCTCAAACATCACCACCACTCCACTGGGAACCATTGATCTAGGGCTTATTAATACAGTTACTTTTAGGATGGTCTGAGAGGCCCCATTAGATGTGCACTCAGGAAACACGGGAGTGTTTATGTTACAGAGAAAGGGCAGCACTGTTGCTAGTGAGGGCCTCAAGCCCCTCAGTATTGGTGTTTTCCTTCTCACATCTCAACTGTCCTGCACAGGACCTCCTCTCAAAATGGTGGTCCAGGTCCTTCTTCCTCTTCTCTCCTAGGGTTTGGATTTTGAGGCCAAAAACCAGCACACCCTGTACGTTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTCCCAACCTCCACAGCCACCATAGTGGTCCACGTGGAGGATGTGAATGAGGCACCTGTGTTTGTCCCACCCTCCAAAGTCGTTGAGGTCCAGGAGGGCATCCCCACTGGGGAGCCTGTGTGTGTCTACACTGCAGAAGACCCTGACAAGGAGAATCAAAAGATCAGGTACTCAGGAGCTGGGCTCAGTAAGCAGCACGTACTGGTACAGTTGGTGGGTGGGTGATCATGGCCAACGTTTGTTCTGATTACCATAGAGATTGTTAAATAGGAATATCCCTCCTGCATAGGTTCTCTTCTTCCTACCCTCTTTGAGGCTGAAGACTGAATAGGGGTTTGGGGGCAGGTATTTCTCACTCTGTCATGTATCCCTCCTGGGACTCCTGCACCTGCTGCTTTAGGTCCCCGTTTATGGGCGAGGTGCATTTTCCATATGATCCTGCTTAGGAGCCCAGAGGCCATCTGCCAGTTGGTATGAGGAGGCCCTGAATGATGACATCAGAATTCTAAATATTCTGGATGTACTCGTCTCAACTTTTCCTCTCCAGCTACCGCATCCTGAGAGACCCAGCAGGGTGGCTAGCCATGGACCCAGACAGTGGGCAGGTCACAGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGAGGAACAACATCTATGAAGTCATGGTCTTGGCCATGGACAATGGTGAGAGCATCCTCCCAGCCCTCCCACAAGGGCCACTTTTGGTTCTCAGGTCACATGACACAGCACAGCATGTTTCCTCCACAGGTGGGAACATGTGTCGAGGAGGGCTATTTGCAAACCAATCCAGACGGTCAAAGGGGTCTTTCAGAGGAGTCTTTTAAAGACTGGTCCTAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGTCGGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCCGGACGCAGAGGCAGAAGAATCACTTGAACCTGGGAGGTGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTATCTCAAAAAGCAACAACAACAAAAGACTGATCCTAGGGACTGGCCATGATTCCAATTTCCCTAAAACCCAAGAGTTGGGAGGGAGCCAGGTGTGGTGACTCAGGCCTGTAATGCTAGCACTTTGAGAGGCCTAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGGCCTGAGAAACATACAGAGACCCTGTCTCTACAAAAAATGAAAAATTAAAAAATAAGAGTTAGGGCCGGGCATGGTGACTCAAGCCTATAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGCAAAACACTGTCTCTACTAAAAACATAAAAAATTAGCTGAGTGTGCCGCCTCCCAGTTCCCGCATCAGTGGCCTGCACAGGGCCCTTGGGGCGAATTGCAGCACGCCTCGGGGCGAGCGGCAAGGGCTGGGGTGAGTGCACCTGCACCCAGGCGGTCTTTTCACGTGTCGCCAGGGTCAGACCGCATGTCTCTCCTTGCGGCGCTACACAAGAGCAGAGTACGAGTCTGAGGTGGAGGGAGTCATGGCAGGACAAGCATTTAGAAAGTTTCTTCCACTCTTTGACCGAGTATTGGTTGAAAGGAGCGCCGCTGAAACTGTAACCAAAGGAGGCATTATGGGTCCAGAAAAATCTCAAGGAAAAGTATTGCAGCAACAGTAGTTGCTGTTGGATCGGATTCTAAAGGAAAGGGTGGAGGGATTCAACCAGTTAGCGTGAAAGTTGGAGATAAAGTTCTTCTTCCAGAATATGGAGGCACCAAAGTAGTTCTAGATGACAAGGATTATCTCCTATTTAGGGATGGTGACATTCTTGGAAAGTACGTAGACTGAAATAAGTCACTATTGGAATGGCATCAACGTGAAGCTGCCCATTCCACTGAAGTTCTGAAACCTTTCATCATGTAAATAATTTCCATATTTCTCTCTTATAATAAACTAATGATAACTAATGACCAAAAAAAATAAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACCTTAACCCAGGAGGTGGTGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTCAAATAAGTAAATAAAACATCAGCATTAGGAAAGTCCCTTCAGCCTTAGTTTTTGGTTCACTGGGTCCTGAATTGGCCTGTCAGTTTTCCCTTGTGATTGATTGATAGGGGCTGACTGGAAAGTGCCATGACAGATTAGTGATGCCACACCATAACAGATGGGAGGTTATGACGTAGTTGTCACCTCTGGTTGACATGTAATGAACCAGGACCTGCAGGCAGGTGAGAGGTTGCAGCAGGGCTGTGAAGGGAAGCTTCCCTGAAGCTGATCGACAAACACTGGAGTAACCCTGAAGTAGCCGGTAGGTTTCGCCTTGTGGTTATAGTGGCTGTCTGGATGAAGTGGCTGCAACTGTGTCATGATAGTTAGTAA
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Task1_train_22848
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This sequence change occurs on Chromosome 16, altering CDH1 (cadherin 1). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
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CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCGTGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
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Task1_train_22849
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Gene CDH1 (cadherin 1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Hereditary diffuse gastric adenocarcinoma
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CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
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CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCTTGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
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Task1_train_22850
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This sequence variant lies in CDH1 (cadherin 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCAAGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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Task1_train_22851
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Located on Chromosome 16, this mutation impacts CDH1 (cadherin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCACGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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Task1_train_22852
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This variant affects gene CDH1 (cadherin 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCAGGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
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Task1_train_22853
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Consider a variant on Chromosome 16 in gene CDH1 (cadherin 1). Determine its clinical classification and disease relevance.
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCCA
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TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATAGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCCA
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Task1_train_22854
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A mutation found in CDH1 (cadherin 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCT
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GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACAGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCT
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Task1_train_22855
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Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Blepharocheilodontic syndrome 1
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CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCAT
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CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCTATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCAT
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Task1_train_22856
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A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Familial cancer of breast
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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Task1_train_22857
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Given this context: Chromosome 16, gene CDH1 (cadherin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Blepharocheilodontic syndrome 1
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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Task1_train_22858
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Given this variant in gene CDH1 (cadherin 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Hereditary diffuse gastric adenocarcinoma
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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Task1_train_22859
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This is a variant in CDH1 (cadherin 1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Endometrial carcinoma
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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Task1_train_22860
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Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Ovarian cancer
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
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Task1_train_22861
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A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
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TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCCCACCGACCCCTGAAATGGATTACCTGAATCTAAATTTTGAGGAATAATCAGACAAACCCAAGTTAAGGGGCATGCTACAAAACAACGGCCAGCACATTTCAAAAATGTCAGTGACAGAAAAGAAAGACCTAAGGAAGAGCCATGCCAACGAAAGGCCATATTGGATCCTGAATCCAGAAGGGTGCAAGGTTGCTATAAAGGACATTTTTGGAAAATCTGACAATTCGAATATGCACCATATATTCGACAATAGAATTCTATCAAAGTTTTGTTTCCTAAAATTGAAAATCAAGACTGGTCACGGTGGCTCACACCTGCAATCCCAGTGCTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGACCCAGCTATTCAGGAGGCTGGGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAACGAGACTCTGTCCCAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAAATCAAATTGGGGTTATATAACAGAATGCCTTTGTTCTTAGGAGATAACACATTGACATATTTATAAGTAAAGGAACATGACTTCTGCAATTTATTTGCAGATGGTTCAGCAGAACAAGAAATTATGTAGGCGTGTGTCAATATAGACAGAGCAGATGTGGCAAAGTATTAACAATGAGTAAACTCAGGTGAAGAGTTCATGGATGGTCATCATACTATTATAGTAACTTGTCTGTTGTATTGTTGGTTTTCTTGGTTTTCTTTTTTTTTTTTTTTTTTTAAAGACGGAGTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGTGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGTAAACCGCGTCTCAACTAACAATACAAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTCTAGTCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATGGTGTGAACCCAGGAGGTGGAGCTTGCAGCGAGCCGACATCGCGCCACTGCACTCCAGCTTGGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGGGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAACGATTCTCCTGCCTCACCCTCCCCAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGACCGGCCTATTGTTGGTTTTCAAAATAAAAACGTTGGAAGTAACCATATAACTGAAGAAGCGCTTAAGCCGTTTTCAGCTACATGTTGTTTGCTGGTCCTATTCTAAAAGCCAGAGCTTGTCCCCGTTCAGATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGTGCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCACGTACACAGCCCTAATCATAGCTACAGACAATGGTAAGGGGGCCTCATCTGAGCCTTTGCTGCCTCGACCTCCTAGCTAGTTCAGTTCCTTGCCCCTCCCTTCTTTTGGAGGGAAGAGTTCATTCTTTTTCTTTTATCCTTTTTGTTTGCTGGATTGATTTGTATAAATGTATGGAGTACAAGGGTAATTTTGTTACATGCATAGATGTGTAGTGGTAAAGTCAGGGCTTTTAGGGTATCCGTCACCCAAATAACATGCATTGTACCCATTAAGTAATTGTTCATCATCTACCCCCTCCCACCCCTTGGACCCTTCCCAGCTGCCATTGTCTATCATTCCACAATCTACATCCATGTGTACACATTATCGAACTCCGACTTCTAAGTGAGAACATGCAGTATTTCTCCTTATATGTCTGATTCGTTTCACTTGAGACAATGGCCTCCAGTTTCATCCATGTTGCTGCAAAAGATTTCTCTTTTATTCTTAAACAAAGGCATTCTTATTATCAAAAATTCAAGTGGGCTGGGCACGGTGACTCACACCTGTAATCCCAGCACTTAGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGGCAAAACCCTGTCTCTACAAAAAGTACATAAATTAGCTGAGTGTGTTGGTGAGCACCTGTAGGCCCAGCTACTCAGAAGGCTGAAGTGGTAGGATTGCTTGAGTCTGAAAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCTCTCCATCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAAATTGTTTTTTCAAGTAATTTTGGTCAAACAGAACTTACTTTTCACTACTCACTCTTTATTCCTTCCCTAAGGGAACCAGGTAATGATGGTTTACAATCCATTTCCAAAGCTTAATACTTGTGTGACCTTGGATTTGCTGTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCTTCCGCCTCCCAGGTTCAAGCAATTGTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCTGTTTAATTTTTATGTCCCTCAATTCCTTTACCTGAAAAATGTTAATACCCATGTGGGTGAAATTAGTTAGGTGTTAAATCAGTTAGGTGTGGGTCCTTCCAGACTGCTTCTGTGTATTTAAATACATTTATAGGCTGGGTGCTAGGGTCACACCTGTAATCCCAACACTTTGGGGGTCTGAGGTGGGAGATGGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATACTGCCCATAATCTCAAAATGCTGGGATTACAGGCATGAGTTATCATGCTTGGCCTCCTTGAGTTAATTTTAAATGACGTGTGCTCATTGTTAAAAAATAAAATTTACATGAGAAAAAAGTTTTAAAAATTTACAGTCATGCCATCTAGACATATCTATTTATAGGTTTGAGATGGATTCTTCTGTTGTTTTGTATCCGTATCGTATACTAATATTGATGATAGTTCCCTGGGTACCAATTTTTCCTACTACCATATGCTCCGTGTTGTGTCAAGATATAAAAGAAATGCAAACAGAAGTGTGGATGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTCAGAGGCTAAGATGCGAGGATCACTTGAGCTCAAGAGTTCAAGACCAGCCTGAGCAACATGATAAGACCCCCTCTCTACAAAAAAAATTTAAAAACTAGCCAAGCATGGTGGCATGCGCCTGTAGTCTCAGCTACTAGGGAGGCAGAGGTGGGAGATTAAGCCCAGGAGGTAGAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCC
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TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCCCACCGACCCCTGAAATGGATTACCTGAATCTAAATTTTGAGGAATAATCAGACAAACCCAAGTTAAGGGGCATGCTACAAAACAACGGCCAGCACATTTCAAAAATGTCAGTGACAGAAAAGAAAGACCTAAGGAAGAGCCATGCCAACGAAAGGCCATATTGGATCCTGAATCCAGAAGGGTGCAAGGTTGCTATAAAGGACATTTTTGGAAAATCTGACAATTCGAATATGCACCATATATTCGACAATAGAATTCTATCAAAGTTTTGTTTCCTAAAATTGAAAATCAAGACTGGTCACGGTGGCTCACACCTGCAATCCCAGTGCTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGACCCAGCTATTCAGGAGGCTGGGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAACGAGACTCTGTCCCAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAAATCAAATTGGGGTTATATAACAGAATGCCTTTGTTCTTAGGAGATAACACATTGACATATTTATAAGTAAAGGAACATGACTTCTGCAATTTATTTGCAGATGGTTCAGCAGAACAAGAAATTATGTAGGCGTGTGTCAATATAGACAGAGCAGATGTGGCAAAGTATTAACAATGAGTAAACTCAGGTGAAGAGTTCATGGATGGTCATCATACTATTATAGTAACTTGTCTGTTGTATTGTTGGTTTTCTTGGTTTTCTTTTTTTTTTTTTTTTTTTAAAGACGGAGTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGTGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGTAAACCGCGTCTCAACTAACAATACAAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTCTAGTCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATGGTGTGAACCCAGGAGGTGGAGCTTGCAGCGAGCCGACATCGCGCCACTGCACTCCAGCTTGGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGGGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAACGATTCTCCTGCCTCACCCTCCCCAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGACCGGCCTATTGTTGGTTTTCAAAATAAAAACGTTGGAAGTAACCATATAACTGAAGAAGCGCTTAAGCCGTTTTCAGCTACATGTTGTTTGCTGGTCCTATTCTAAAAGCCAGAGCTTGTCCCCGTTCAGATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGTGCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCAGGTACACAGCCCTAATCATAGCTACAGACAATGGTAAGGGGGCCTCATCTGAGCCTTTGCTGCCTCGACCTCCTAGCTAGTTCAGTTCCTTGCCCCTCCCTTCTTTTGGAGGGAAGAGTTCATTCTTTTTCTTTTATCCTTTTTGTTTGCTGGATTGATTTGTATAAATGTATGGAGTACAAGGGTAATTTTGTTACATGCATAGATGTGTAGTGGTAAAGTCAGGGCTTTTAGGGTATCCGTCACCCAAATAACATGCATTGTACCCATTAAGTAATTGTTCATCATCTACCCCCTCCCACCCCTTGGACCCTTCCCAGCTGCCATTGTCTATCATTCCACAATCTACATCCATGTGTACACATTATCGAACTCCGACTTCTAAGTGAGAACATGCAGTATTTCTCCTTATATGTCTGATTCGTTTCACTTGAGACAATGGCCTCCAGTTTCATCCATGTTGCTGCAAAAGATTTCTCTTTTATTCTTAAACAAAGGCATTCTTATTATCAAAAATTCAAGTGGGCTGGGCACGGTGACTCACACCTGTAATCCCAGCACTTAGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGGCAAAACCCTGTCTCTACAAAAAGTACATAAATTAGCTGAGTGTGTTGGTGAGCACCTGTAGGCCCAGCTACTCAGAAGGCTGAAGTGGTAGGATTGCTTGAGTCTGAAAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCTCTCCATCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAAATTGTTTTTTCAAGTAATTTTGGTCAAACAGAACTTACTTTTCACTACTCACTCTTTATTCCTTCCCTAAGGGAACCAGGTAATGATGGTTTACAATCCATTTCCAAAGCTTAATACTTGTGTGACCTTGGATTTGCTGTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCTTCCGCCTCCCAGGTTCAAGCAATTGTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCTGTTTAATTTTTATGTCCCTCAATTCCTTTACCTGAAAAATGTTAATACCCATGTGGGTGAAATTAGTTAGGTGTTAAATCAGTTAGGTGTGGGTCCTTCCAGACTGCTTCTGTGTATTTAAATACATTTATAGGCTGGGTGCTAGGGTCACACCTGTAATCCCAACACTTTGGGGGTCTGAGGTGGGAGATGGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATACTGCCCATAATCTCAAAATGCTGGGATTACAGGCATGAGTTATCATGCTTGGCCTCCTTGAGTTAATTTTAAATGACGTGTGCTCATTGTTAAAAAATAAAATTTACATGAGAAAAAAGTTTTAAAAATTTACAGTCATGCCATCTAGACATATCTATTTATAGGTTTGAGATGGATTCTTCTGTTGTTTTGTATCCGTATCGTATACTAATATTGATGATAGTTCCCTGGGTACCAATTTTTCCTACTACCATATGCTCCGTGTTGTGTCAAGATATAAAAGAAATGCAAACAGAAGTGTGGATGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTCAGAGGCTAAGATGCGAGGATCACTTGAGCTCAAGAGTTCAAGACCAGCCTGAGCAACATGATAAGACCCCCTCTCTACAAAAAAAATTTAAAAACTAGCCAAGCATGGTGGCATGCGCCTGTAGTCTCAGCTACTAGGGAGGCAGAGGTGGGAGATTAAGCCCAGGAGGTAGAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCC
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Task1_train_22862
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Gene VPS4A (vacuolar protein sorting 4 homolog A) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia
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CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTT
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CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGAGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTT
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Task1_train_22863
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The gene VPS4A (vacuolar protein sorting 4 homolog A), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; not provided
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TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGT
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TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTAAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGT
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Task1_train_22864
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Consider a variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
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CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGGGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
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Task1_train_22865
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A variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia
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CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
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CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGTGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
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Task1_train_22866
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A variant has been detected on Chromosome 16 in COG8 (component of oligomeric golgi complex 8). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; COG8-congenital disorder of glycosylation
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CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAACCTGGTTCCCAACTCTGGTAATTAGGTTATCGAGCTCACTGTAGAGCTGAGATGAGAAATCATCTTTCTACGGTGCGACCCTTCCGAACACTCCTCCCACTTCTGAGGTACCTGTGGGCTCCCAACTCCTAACAGAGGTTCTGCAGCTTGAGACCCCACTTGTTTTTCTGACCATCTTGAACCGACGGGCTTGCTGTGCAGGAACAATCACCCCGACCCCAGCAGAGCCCGCATTCCGCGAGGCATCCTGTGGTACCACGGGGGAATGGCCTAGCCCCCTGGGCTGGGTCAGGCTGGCGGGGGCTAACCCCCACTTCTCCAACTCCACCGTGGCGGATCTAACTGGGGCCGAAGAGCGTGTTTGCCTCAGAGAGCAAGGGAGCAGAAAGCAGACGCCAGGCTGTCAGGTAACAGCGGAACTAGGGGACCTCTCCTCGCCCCTGCGTCCTATCTGAGCGGGCTCTACCCCACAGGAGCTTCTATCCGTCCTGAGGCCTCTCCGCTCCCGCATCCCACTTCGCTCCTGCGGGAGGTCCGGCGTATGAACCGCGACCACTTCTGCGCTCTCGCGGAGTCGGGCAGAAGAGACGCGCGCGCTGCTCCAGCAGCCCCGGTCCCCGCCGCCCGCACCTGAGATCTGCACCGCCTGGAAGCGGGGCACGCAGGCCAGGAAGCCGGCGACGCTCTCGCAGCCCTCGGGAAAGGTGACCAGGCGGCTGTCAAGCACTCGCAGGCTGGGGTTCACGAACACGCGCAGGGGGAAGGGCTCCATTTGGCGGAGCGCGCGCTGGCGGGGCGGGCACTCCCGACACAGCGCCTCGGGGAGCTCCAGCGCCAGCACCTGCCGCGGCACCCCCAGCTGCGGCGCGCTTAGGCCCACGCAGCGCCGCCGCCGCATCACCTGGACCAGCCGTTGCGTCAGCCGCTGCAGCTCGGGCCCGCCTAGCTGCGCCCGCTCCACCGGGGCCGCCACGCCGCGCAGCACCGGGTCCCCGACTTGGCACACGTGCGAGAACGGCGGTTCGGGAGGACCCAGCACCAGACGCCTCAGGTGGCGCCAATAGGAGCGCCGCAGCGCCGGGCCCTCGACGCCGTCCGGGGCGGCCGTGGAGCTGCAAGCCCGGACACCGACGGCTGCCGCCCCGCCCCACGGCACGGCCGCCCACAGTGGCCAAAGACTCAGCGCGCCCCACAGCCGGGCCATGGCGGCCCCCTTAACAGTGACCCGGCCCGCCCCTTCCGGCCGCAGCGCGGGGCACGCCGGGAAGCGCCGTCGGCCAGCACACAGCGAAGCCGCGACTGGATCCCCGCCTTCCTGCTTAGACTGGCAGTGAGCACCGCCCCCTTCCGCTCTCCTCCCGGGAGCGCCTTCCCGCCTCCCGAACCCGCCCCGGACCTTCCAGGGCGAGGCAGTCCTGGCCACCCCGCGCCGGGAACCTCACGCACCGCGTTCTGGAGGCAGGGGACGCCGGCTAGGGCCCCACGCTGGGCGGTTCGGCCTGCGTCTCCGCTCGCCCTCCCTCCGGGCAGGCTGGGCCCGCGGGCTCCAGGCGTGGCTCCTCGGCGGGAGGCTCTGGTGCTGGAGCTGTGAGCTCGGGCCCCAGCGCCTGGTCATCCAGGGTGAAAAGCGTCTCTCTCTTTGGCAGGATAAAGGCGAGGGGCTCCTGAATGGCGCCGATGTTCACATGCCCTAGGTTACCGTACTTGGAGAGCTGAGTGGGAGGAATGCCTAACCCAGACGTGGGGAAAGCAAAATGGAAAACAGTTACTAATAAAACTCAATATAGAAATTTAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGAGGGGGGGGCGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGACCCACACGGAGAAATCCCATCTCTCTTAAAAATACAACATTAGCCGGGCTTGGTGGCGCAGGCCTGTAATCCCAGCTACTTGGGAAGGCTAAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGATTGCAGTTAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCCACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTTAAGGGAAAAAAAACGAGCCATTACTATTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTGCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAACAGTTCTCATGCCTCAGCCTCCGTGGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTACTATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCATCAATTACTATGTTTTAATACAGCAAAAACCACCTTTGTTACAGGGAATGGGAAGCTATACTGTGAAGCAGAACGTAACGGAACAGCAGTGTAGGGTGCCTGCAGCAGGAACCCAGACCTCAGGCAGCACCAGGGAAAAAGCAGAGGGCAGCCAGGCTTTGCACGTGTGATGCACTGACCCATTGCCCTTTGGGAAGCTGTGCCTCAACCAAGCCCCTCTCCTACCACAAAGGGACAAGGACGTGAAAGTGAATTGGAAAAAAGACTTTAGGACGGGCGTGGTGGCTCACGCCTGTAATCCGAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAGGTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACACAAAAATTAGCTGGGCGTGGTGGTGCGAGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGCAACACAGCGAGACTCCGCCTCAAAAAAAAAAAAGACTGTAAAAACCATTTCTCTAGATATTTCACATAAATGGAATCATACGTATGTAGTTCTTTTGTGACTGGCTTCTTCCGCTTAGCCAGATACAGCCACATAATGTATGATTCCATTTTTATGAAATGTCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGGACAAAGAGCTCTTGCTCCCCGCTGCTGAAGGCAGCCTCTTCAGCGCGATGGAAGGCCAGGATTATTTTAGTTACCTAAGAGACAAGGGCACCGTCAATTACTGGGACAGCCTATCACCACTGGGACAGCAGTGCATGAAACTAGGCAAAAAAATGTATGCCCCTCCAGTTTTCCTGAACAAAGTAATTTAACAGTACATTATTTTACTGTCTCATTTAAACTCAGAATTATGGTCATTGTCCACAATTGTGTCACTTTATTAATGTGAAGTTCAGACCCAACTTGTTACATTACGGGTATAGTTTCCGGTTCCAGTGGAGGAGTGTCATAAAACT
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CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAACCTGGTTCCCAACTCTGGTAATTAGGTTATCGAGCTCACTGTAGAGCTGAGATGAGAAATCATCTTTCTACGGTGCGACCCTTCCGAACACTCCTCCCACTTCTGAGGTACCTGTGGGCTCCCAACTCCTAACAGAGGTTCTGCAGCTTGAGACCCCACTTGTTTTTCTGACCATCTTGAACCGACGGGCTTGCTGTGCAGGAACAATCACCCCGACCCCAGCAGAGCCCGCATTCCGCGAGGCATCCTGTGGTACCACGGGGGAATGGCCTAGCCCCCTGGGCTGGGTCAGGCTGGCGGGGGCTAACCCCCACTTCTCCAACTCCACCGTGGCGGATCTAACTGGGGCCGAAGAGCGTGTTTGCCTCAGAGAGCAAGGGAGCAGAAAGCAGACGCCAGGCTGTCAGGTAACAGCGGAACTAGGGGACCTCTCCTCGCCCCTGCGTCCTATCTGAGCGGGCTCTACCCCACAGGAGCTTCTATCCGTCCTGAGGCCTCTCCGCTCCCGCATCCCACTTCGCTCCTGCGGGAGGTCCGGCGTATGAACCGCGACCACTTCTGCGCTCTCGCGGAGTCGGGCAGAAGAGACGCGCGCGCTGCTCCAGCAGCCCCGGTCCCCGCCGCCCGCACCTGAGATCTGCACCGCCTGGAAGCGGGGCACGCAGGCCAGGAAGCCGGCGACGCTCTCGCAGCCCTCGGGAAAGGTGACCAGGCGGCTGTCAAGCACTCGCAGGCTGGGGTTCACGAACACGCGCAGGGGGAAGGGCTCCATTTGGCGGAGCGCGCGCTGGCGGGGCGGGCACTCCCGACACAGCGCCTCGGGGAGCTCCAGCGCCAGCACCTGCCGCGGCACCCCCAGCTGCGGCGCGCTTAGGCCCACGCAGCGCCGCCGCCGCATCACCTGGACCAGCCGTTGCGTCAGCCGCTGCAGCTCGGGCCCGCCTAGCTGCGCCCGCTCCACCGGGGCCGCCACGCCGCGCAGCACCGGGTCCCCGACTTGGCACACGTGCGAGAACGGCGGTTCGGGAGGACCCAGCACCAGACGCCTCAGGTGGCGCCAATAGGAGCGCCGCAGCGCCGGGCCCTCGACGCCGTCCGGGGCGGCCGTGGAGCTGCAAGCCCGGACACCGACGGCTGCCGCCCCGCCCCACGGCACGGCCGCCCACAGTGGCCAAAGACTCAGCGCGCCCCACAGCCGGGCCATGGCGGCCCCCTTAACAGTGACCCGGCCCGCCCCTTCCGGCCGCAGCGCGGGGCACGCCGGGAAGCGCCGTCGGCCAGCACACAGCGAAGCCGCGACTGGATCCCCGCCTTCCTGCTTAGACTGGCAGTGAGCACCGCCCCCTTCCGCTCTCCTCCCGGGAGCGCCTTCCCGCCTCCCGAACCCGCCCCGGACCTTCCAGGGCGAGGCAGTCCTGGCCACCCCGCGCCGGGAACCTCACGCACCGCGTTCTGGAGGCAGGGGACGCCGGCTAGGGCCCCACGCTGGGCGGTTCGGCCTGCGTCTCCGCTCGCCCTCCCTCCGGGCAGGCTGGGCCCGCGGGCTCCAGGCGTGGCTCCTCGGCGGGAGGCTCTGGTGCTGGAGCTGTGAGCTCGGGCCCCAGCGCCTGGTCATCCAGGGTGAAAAGCGTCTCTCTCTTTGGCAGGATAAAGGCGAGGGGCTCCTGAATGGCGCCGATGTTCACATGCCCTAGGTTACCGTACTTGGAGAGCTGAGTGGGAGGAATGCTTAACCCAGACGTGGGGAAAGCAAAATGGAAAACAGTTACTAATAAAACTCAATATAGAAATTTAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGAGGGGGGGGCGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGACCCACACGGAGAAATCCCATCTCTCTTAAAAATACAACATTAGCCGGGCTTGGTGGCGCAGGCCTGTAATCCCAGCTACTTGGGAAGGCTAAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGATTGCAGTTAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCCACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTTAAGGGAAAAAAAACGAGCCATTACTATTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTGCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAACAGTTCTCATGCCTCAGCCTCCGTGGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTACTATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCATCAATTACTATGTTTTAATACAGCAAAAACCACCTTTGTTACAGGGAATGGGAAGCTATACTGTGAAGCAGAACGTAACGGAACAGCAGTGTAGGGTGCCTGCAGCAGGAACCCAGACCTCAGGCAGCACCAGGGAAAAAGCAGAGGGCAGCCAGGCTTTGCACGTGTGATGCACTGACCCATTGCCCTTTGGGAAGCTGTGCCTCAACCAAGCCCCTCTCCTACCACAAAGGGACAAGGACGTGAAAGTGAATTGGAAAAAAGACTTTAGGACGGGCGTGGTGGCTCACGCCTGTAATCCGAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAGGTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACACAAAAATTAGCTGGGCGTGGTGGTGCGAGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGCAACACAGCGAGACTCCGCCTCAAAAAAAAAAAAGACTGTAAAAACCATTTCTCTAGATATTTCACATAAATGGAATCATACGTATGTAGTTCTTTTGTGACTGGCTTCTTCCGCTTAGCCAGATACAGCCACATAATGTATGATTCCATTTTTATGAAATGTCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGGACAAAGAGCTCTTGCTCCCCGCTGCTGAAGGCAGCCTCTTCAGCGCGATGGAAGGCCAGGATTATTTTAGTTACCTAAGAGACAAGGGCACCGTCAATTACTGGGACAGCCTATCACCACTGGGACAGCAGTGCATGAAACTAGGCAAAAAAATGTATGCCCCTCCAGTTTTCCTGAACAAAGTAATTTAACAGTACATTATTTTACTGTCTCATTTAAACTCAGAATTATGGTCATTGTCCACAATTGTGTCACTTTATTAATGTGAAGTTCAGACCCAACTTGTTACATTACGGGTATAGTTTCCGGTTCCAGTGGAGGAGTGTCATAAAACT
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Task1_train_22867
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This genomic variant is located on Chromosome 16, within the AARS1 (alanyl-tRNA synthetase 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Trichothiodystrophy 8, nonphotosensitive
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TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCCCGGGGGAGCGCGGCGCCGGCGGCCCGCGAAGGGTGCGCGGCGGAAGTCGCAGAGCAGGCGACCGCGCAGCGCGGCCGGGGCCTCGCCGCCTGCTCCGGCCGGGCCGCCGCCGCGCTCGCCGCCCTCGGCCTGTCGCGGGCCCGACACGGCACACAGCACCTTGGTGCCTCCCGCCTCCAGGTAGGCCGAGCCCTTGGCCTGGCTCAGCAGCCCGGCGCGCGCGTACACGGGCCGTAGCCGCGTTGGGTCGCGGGTGCCGGGCGCCTCCTCCTCGTCGGCCGCGTACAGCTGCGGCGGCTGCGATTCTTCAGGGCCGCGGATGCGGCGGTGATCCCCAGGCATGGCGGTTCTTGGCGTGCGAACCCCTTCCGCCCAACGCCCTGCCGCATCCACTGGTTCTTCCGTTGTTTAAAGACGCGCGGCTGCGCATGGGCTGTCGAGAGAGCGGCGGGAGGCACTACAGCGCCCCTGGAGGCCCGGAGGGAGAACGGCCCGGTCCCAGTTGTGCAGGGTAGCCGGATCCATCCATCTTGCTGGAAGGGAGGGGGGAGAGCAGCTCCAAGAAAGGCTTCTCTGCTTCCAACTACCTCCACCCCTCATCTACTGAATTATGAACGCCTTGCTCCAAGTCACCCCACCTATTTGGCCTCCACCTCCACAGACGTTTGAGGCAGCCCTAGGGGCTGTTCCCAAAATTTTGGGTTCTGGGGCTGGACTAGGTGAACACCACAGCAGCCAGCAGGAGCCACAGCATTTATTCTACAGACGCCAAAGGCTGTCAAAAGAGCCAGCCCCTATTGGGAAGAGGGATAGAGATCATGCGGCATTAAGTATTGCACGTGGTCCTTTTATTCTCTGCAGCAAAAACGATTCCTACTTGCTGACGCGGAAAGCTCAGGTCTGGAGAGCCGTTATCTATAGATGCGAGCGTGACGATCAACAGCAATGCGGGGTTAGTGGTTCTAGACCGATGGCACTGACGTGGAGGGCTCAGGGCAGAAATTTAAGGGGCACTGAGACATAGGACTGCTCCCAAGTGTGTTCCAGTTACTGCTGGGTTAGGAGGGGCTCTTTAAAGGTCCCAAGATTCAAATGTTCTTGTAGCAGATGAAGAGCTCTTGGCTGGACGGATGGATCCAGTGGGAGCCTCCTCCTTCCCCACTCAGTTCTTTACATCCCCGAGGCGCAGCTGGGCGAAGGAAGTGGCCAGCTGCAGCGCCTCCTGCAGGCAGCCAACGTTCTTGCCTGTGGCCTGTGCAGACACATCCTTGCCACCACCTTTACCGTCCATCAAGCCTGACACCTGCTGCACCCACTCGCTGGCTTTTAAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTCAGCACAGAAGATGGGATTGAGGGAGGAATGCAGGGAAAGAAAGGATGGAGGAGCCATCACCCACTCCTTGCCCTGGGTGATACTGCTGGAGGCCGAGACAGACTTTACGGCTGGTACAGGGGGCGGCCATGGCCACTGCCAGGACAGGACAGAGTGGCAAAGCCAGGTATCAACCAGATGTCTTCACCAATAAGAAGGCCTGGGTAAGGGGTACTGGCAAAGGTAACCAACCGGTGGGCAGAAAGGCTGTTTCGAATGCAGGCTGTACACACACAGGCCTCAGCCAACAACCTTAAGACCTAACACTTCCCACTGGTGCGAGGTGGTGCTGACCTGGGGAACTTGACACAGGCACGTGATCTTGCCAGCCTCATTGTCCACCGTGAAGAGCATGGCAGAAGTCTGAGGGGAGTGCATCTTGAAGAGCTTCAAGGCTTCATTCAGGGCCTGTGGGGAGGACCTGGCTCAGGCCACGGTGCTGGAGCAGGGACCCTCACTAGTGTGAGCATTTGCAGCCCTCAGAAGGCCTGCCACCCACCCCTACCCCTTCCCAGAGCAGGGGCTGTGCCCAGGGCCTGTGGGGAGGACCCCAGCGCCGGGCCCTGCCCCTACCCTGGCCCAGGTATGCCTCCCACATGCAGGGAGCTGCTGCTCCTCCCAATCTCAATCCCAGACCGTGGGCCCTTAGGCAACCACTTCGCTCAGAGCCACAGAGGCCACATGTCAGCCACCAGAGAGCTGATGAGCCCTAGGGGAGGGGACCCTGGCCCCTGGGTTGCCTTGGCTGAGGCGCCGCTCTCCATCTCCAGGATGACAAGAGGCTGGTTGGGGTTGCTGTCGATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGG
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TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCCCGGGGGAGCGCGGCGCCGGCGGCCCGCGAAGGGTGCGCGGCGGAAGTCGCAGAGCAGGCGACCGCGCAGCGCGGCCGGGGCCTCGCCGCCTGCTCCGGCCGGGCCGCCGCCGCGCTCGCCGCCCTCGGCCTGTCGCGGGCCCGACACGGCACACAGCACCTTGGTGCCTCCCGCCTCCAGGTAGGCCGAGCCCTTGGCCTGGCTCAGCAGCCCGGCGCGCGCGTACACGGGCCGTAGCCGCGTTGGGTCGCGGGTGCCGGGCGCCTCCTCCTCGTCGGCCGCGTACAGCTGCGGCGGCTGCGATTCTTCAGGGCCGCGGATGCGGCGGTGATCCCCAGGCATGGCGGTTCTTGGCGTGCGAACCCCTTCCGCCCAACGCCCTGCCGCATCCACTGGTTCTTCCGTTGTTTAAAGACGCGCGGCTGCGCATGGGCTGTCGAGAGAGCGGCGGGAGGCACTACAGCGCCCCTGGAGGCCCGGAGGGAGAACGGCCCGGTCCCAGTTGTGCAGGGTAGCCGGATCCATCCATCTTGCTGGAAGGGAGGGGGGAGAGCAGCTCCAAGAAAGGCTTCTCTGCTTCCAACTACCTCCACCCCTCATCTACTGAATTATGAACGCCTTGCTCCAAGTCACCCCACCTATTTGGCCTCCACCTCCACAGACGTTTGAGGCAGCCCTAGGGGCTGTTCCCAAAATTTTGGGTTCTGGGGCTGGACTAGGTGAACACCACAGCAGCCAGCAGGAGCCACAGCATTTATTCTACAGACGCCAAAGGCTGTCAAAAGAGCCAGCCCCTATTGGGAAGAGGGATAGAGATCATGCGGCATTAAGTATTGCACGTGGTCCTTTTATTCTCTGCAGCAAAAACGATTCCTACTTGCTGACGCGGAAAGCTCAGGTCTGGAGAGCCGTTATCTATAGATGCGAGCGTGACGATCAACAGCAATGCGGGGTTAGTGGTTCTAGACCGATGGCACTGACGTGGAGGGCTCAGGGCAGAAATTTAAGGGGCACTGAGACATAGGACTGCTCCCAAGTGTGTTCCAGTTACTGCTGGGTTAGGAGGGGCTCTTTAAAGGTCCCAAGATTCAAATGTTCTTGTAGCAGATGAAGAGCTCTTGGCTGGACGGATGGATCCAGTGGGAGCCTCCTCCTTCCCCACTCAGTTCTTTACATCCCCGAGGCGCAGCTGGGCGAAGGAAGTGGCCAGCTGCAGCGCCTCCTGCAGGCAGCCAACGTTCTTGCCTGTGGCCTGTGCAGACACATCCTTGCCACCACCTTTACCGTCCATCAAGCCTGACACCTGCTGCACCCACTCGCTGGCTTTTAAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTCAGCACAGAAGATGGGATTGAGGGAGGAATGCAGGGAAAGAAAGGATGGAGGAGCCATCACCCACTCCTTGCCCTGGGTGATACTGCTGGAGGCCGAGACAGACTTTACGGCTGGTACAGGGGGCGGCCATGGCCACTGCCAGGACAGGACAGAGTGGCAAAGCCAGGTATCAACCAGATGTCTTCACCAATAAGAAGGCCTGGGTAAGGGGTACTGGCAAAGGTAACCAACCGGTGGGCAGAAAGGCTGTTTCGAATGCAGGCTGTACACACACAGGCCTCAGCCAACAACCTTAAGACCTAACACTTCCCACTGGTGCGAGGTGGTGCTGACCTGGGGAACTTGACACAGGTACGTGATCTTGCCAGCCTCATTGTCCACCGTGAAGAGCATGGCAGAAGTCTGAGGGGAGTGCATCTTGAAGAGCTTCAAGGCTTCATTCAGGGCCTGTGGGGAGGACCTGGCTCAGGCCACGGTGCTGGAGCAGGGACCCTCACTAGTGTGAGCATTTGCAGCCCTCAGAAGGCCTGCCACCCACCCCTACCCCTTCCCAGAGCAGGGGCTGTGCCCAGGGCCTGTGGGGAGGACCCCAGCGCCGGGCCCTGCCCCTACCCTGGCCCAGGTATGCCTCCCACATGCAGGGAGCTGCTGCTCCTCCCAATCTCAATCCCAGACCGTGGGCCCTTAGGCAACCACTTCGCTCAGAGCCACAGAGGCCACATGTCAGCCACCAGAGAGCTGATGAGCCCTAGGGGAGGGGACCCTGGCCCCTGGGTTGCCTTGGCTGAGGCGCCGCTCTCCATCTCCAGGATGACAAGAGGCTGGTTGGGGTTGCTGTCGATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGG
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Task1_train_22868
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This variant impacts the gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2N
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GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGACGCGCGCCACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCGGCCTGATTCACATATATTTTAAAAGACTAAACATAGGAAAGCTAGGAGATCTTGTGTGGTGGCAGGTTTCTTCTGCCACTCAGGGGTAGGACACTGGGGCAGGGGGAGTGGCCCAGCCTGTACTTTCACTCTGACTGCAGCAGCCACGCAGAGCAGTGTTTGCTCTATGGATTCGCAGACTGGGCTCCTCTTGCCTTCTTCAGATAAGCCACAAACCAGCCTGACCTGCTCACCTTCTGGGCCTCGGCACCTGTGACAGCCACAATCCTCCGGATACCCTTGGCAATGGCTTCTTCCGTCACGATCACAAAAGCTCCTGCATGACTCGAGTTCCGCAGGTGCCTGAATGGCAGAACACAAAGTCCATAGTGAAAGAGGCCCTGGCAGCCCTTGGCTGGGGGGTCACACTAGCGGACAAGAGAAGCAGGAATGGGTTGACAGTCAGGGAAAGCCTGGGCTTGAGAGTATTCTGACACCAAGCGGGACACCAGCTCGCTGAGCCTGAGTGTTCTCAGTTCTCAAATGGGGATGATTCTCCCCACACAGTTGCTGTGAAAATCAAATGAGGTAAACATGAAAGTGCTTTGTGGTCCCTAATATCCAATACAGTCTTACCCTTAGGCTCTACGTGACAGTTTTGGTCTTGTAGTGGAACTTAAGCTCCATTTTTGTATTCTGCTCACTAGGTGACAATTTTGGAGGATTACTTTTAAAATCTTACCACAACCCCTTAAACAGGCTTTATTTCTCAGTTCAGAGAACCTCAAATGTTCATTAATTCATCCTCATTCTTTGAAGATAGTATAGTTTTTTTTGTTTGTTTGTTTTGAGACAGAGTCCTGTTCTGTTGTTCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCACAACCTCTGCCTCCCAGTTTCAAATGATTCTCTTGCCTCAGCCACCCAAGTAGCTTGGATACAGGTGCCCGCCACCACTCCTAATTTTTGTATTTTTAGTACAGACAGGTTTTCACCATGTTGCACAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCTAAGTGCTGGGATTAAAGGCATGAGGCAACATACCCAACCCTTGGTATAAAGTTTTTGAAAGCTGTTTCCTGTAGTCTAAAGGGTATGAGCAAACAGGTAATCAGGCAAAGTGGGACTCGTTTGAAGGCCCAATTCAGCTGGGCAGAAAAGCCTTGAACTCAATCCCCCAGGCCCCTATCCTACTCTCTGCACATCCTACTTGCTCCCTGCCTGCCAGAGGCCTGCAGGAGACCCTGGAGGGTCTCAACCATGACATTAAGAATGTTCTTTTCAGCCGGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCCTGGAGGTGGAGGTTGCAGTTAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAATGAAACTCCGTCTCAAAAAAAAAAAAAGAATGTTCTCTTCATGGCTGGGCATGGGGGCACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGAAGCCAGGAGGTAGAGGTTGCAATGAGCCGAGACTGTGCCACTACACTCCACCCTGCGGGACAGAGCAAGACTCCACTTCAAAAAAACAAACAAAAAAAACCACAATTCTTTTCACAAGGCTTCATTTGGAAGCAGAAACTTTCCAGGCCACCATGACCTTCCCAAAAAGGCCCAGAGAGATACAGAGGAATCCAAATTGGCAGAAGTGGCTATCCCAAGCCAAACTGAGCTGAGTCAACCACGTGGCCTGCTCGGGGGCTCTGAGACAATGGAGCTACATTCCCCAGATGCCGCCCAAGCTGTCAAAGGAAATTAGGTGAGATACCAGGAATGGGAAGGGCTAGGCCCACATCAAGAGCTCAACAAGCACTCCAGGCCTTGCTGAATCCCAAATTCACACAAGCCTTCTTGCTAGTTTCAGCCCAGCAAACAACAGCAAGCAACTGTGTGGTAATGTGAATACAATGTTTTCCCCCTTTTCCTCCTGGGAATGTTTCGTCAGGAAATGTTACCTTCAGATACAGGGATCTAATG
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GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGACGCGCGCCACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCGGCCTGATTCACATATATTTTAAAAGACTAAACATAGGAAAGCTAGGAGATCTTGTGTGGTGGCAGGTTTCTTCTGCCACTCAGGGGTAGGACACTGGGGCAGGGGGAGTGGCCCAGCCTGTACTTTCACTCTGACTGCAGCAGCCACGCAGAGCAGTGTTTGCTCTATGGATTCGCAGACTGGGCTCCTCTTGCCTTCTTCAGATAAGCCACAAACCAGCCTGACCTGCTCACCTTCTGGGCCTCGGCACCTGTGACAGCCACAATCCTCCGGATACCCTTGGCAATGGCTTCTTCCGTCACGATCACAAAAGCTCCTGCATGACTCCAGTTCCGCAGGTGCCTGAATGGCAGAACACAAAGTCCATAGTGAAAGAGGCCCTGGCAGCCCTTGGCTGGGGGGTCACACTAGCGGACAAGAGAAGCAGGAATGGGTTGACAGTCAGGGAAAGCCTGGGCTTGAGAGTATTCTGACACCAAGCGGGACACCAGCTCGCTGAGCCTGAGTGTTCTCAGTTCTCAAATGGGGATGATTCTCCCCACACAGTTGCTGTGAAAATCAAATGAGGTAAACATGAAAGTGCTTTGTGGTCCCTAATATCCAATACAGTCTTACCCTTAGGCTCTACGTGACAGTTTTGGTCTTGTAGTGGAACTTAAGCTCCATTTTTGTATTCTGCTCACTAGGTGACAATTTTGGAGGATTACTTTTAAAATCTTACCACAACCCCTTAAACAGGCTTTATTTCTCAGTTCAGAGAACCTCAAATGTTCATTAATTCATCCTCATTCTTTGAAGATAGTATAGTTTTTTTTGTTTGTTTGTTTTGAGACAGAGTCCTGTTCTGTTGTTCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCACAACCTCTGCCTCCCAGTTTCAAATGATTCTCTTGCCTCAGCCACCCAAGTAGCTTGGATACAGGTGCCCGCCACCACTCCTAATTTTTGTATTTTTAGTACAGACAGGTTTTCACCATGTTGCACAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCTAAGTGCTGGGATTAAAGGCATGAGGCAACATACCCAACCCTTGGTATAAAGTTTTTGAAAGCTGTTTCCTGTAGTCTAAAGGGTATGAGCAAACAGGTAATCAGGCAAAGTGGGACTCGTTTGAAGGCCCAATTCAGCTGGGCAGAAAAGCCTTGAACTCAATCCCCCAGGCCCCTATCCTACTCTCTGCACATCCTACTTGCTCCCTGCCTGCCAGAGGCCTGCAGGAGACCCTGGAGGGTCTCAACCATGACATTAAGAATGTTCTTTTCAGCCGGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCCTGGAGGTGGAGGTTGCAGTTAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAATGAAACTCCGTCTCAAAAAAAAAAAAAGAATGTTCTCTTCATGGCTGGGCATGGGGGCACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGAAGCCAGGAGGTAGAGGTTGCAATGAGCCGAGACTGTGCCACTACACTCCACCCTGCGGGACAGAGCAAGACTCCACTTCAAAAAAACAAACAAAAAAAACCACAATTCTTTTCACAAGGCTTCATTTGGAAGCAGAAACTTTCCAGGCCACCATGACCTTCCCAAAAAGGCCCAGAGAGATACAGAGGAATCCAAATTGGCAGAAGTGGCTATCCCAAGCCAAACTGAGCTGAGTCAACCACGTGGCCTGCTCGGGGGCTCTGAGACAATGGAGCTACATTCCCCAGATGCCGCCCAAGCTGTCAAAGGAAATTAGGTGAGATACCAGGAATGGGAAGGGCTAGGCCCACATCAAGAGCTCAACAAGCACTCCAGGCCTTGCTGAATCCCAAATTCACACAAGCCTTCTTGCTAGTTTCAGCCCAGCAAACAACAGCAAGCAACTGTGTGGTAATGTGAATACAATGTTTTCCCCCTTTTCCTCCTGGGAATGTTTCGTCAGGAAATGTTACCTTCAGATACAGGGATCTAATG
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Task1_train_22869
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Given this context: Chromosome 16, gene AARS1 (alanyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Charcot-Marie-Tooth disease type 2
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GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTC
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GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTTATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTC
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Task1_train_22870
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Located on Chromosome 16, this mutation impacts AARS1 (alanyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Charcot-Marie-Tooth disease axonal type 2N
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AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTCAAGCTGCCACCTCTCCAGTCCCTGCTGGTTAA
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AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCGGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTCAAGCTGCCACCTCTCCAGTCCCTGCTGGTTAA
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Task1_train_22871
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The gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Developmental and epileptic encephalopathy, 29
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TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACAAACATAAACAACAGAATTATTGAACATATTAAGAAGCAACGAATGGATCTAAAGATATGGGCCAGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCAGTCTCTACTAAAAAATATATATATATAAAAAAACAATTGGCCGGGCATGGTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCAACAACAACAACAACAAAAATATATATATATTAGCTGGGTGTGGTGGCAGGCATCTGCAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCATGAACCCAGGAAGCAGAGTTTGCAGTGAACTGAGATCACGCCACTGCACTCCAGTCTGGGAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCATATGAATGCGGCCGGGCACGGTGGATTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAAATACAAAAGTTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCCAGGAGACAGAGGTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTAGCTGACAGAGCAAGCTCTGTCTCAAAAAAATAAATAAATAAATAAATAAAGATATTAATGCATCTAAAGATAATTACTCTGTCGCCCAGGCTGGAGTGCAGTGGAGTGATCTCAGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTAGCCTCACTCCTCCCCATGTGCATCTCAAAAGGAACCCTGAGATGCAAAATGACCACATATTCCAGGTCATAAAACCCCACTCTGGCACTGAGTGTCATTTCACTCCTCCATACTCTCAAGAAGTGATGTGCATTCTTACCCCAAATTTTGCCAGATCTGTTTGCATTCCAGATCTGCTTCTAAGCCAGCTGCTTCATCCCCGCCAAAGTAAGTAACATAAAGTCTTTCAATGGGAATGCCAAACTCTTGGGTGAGGAGTTCCAGAGCCATCTTACATGCCAATTCCTACAAAAAGAACAGAGAGAAAGATATGGAACATTGCCAAACCAAAATCTATTTAGTATGAGACCAGATGCTAGGAACACAGATACAAAATCACAACATGTTCACTCTAAATTCAAATTCAAGATCAGTTTATGTAAGAAATCCAAATATATACTGAAATCACCAAATTATAGGTACTACTTCCAGGAAGTCTTAGAATTAATAAATGCCATTCATTCCTGAATCACCTAGATGATATTTCATATTTTAAAACATGCAAAATTAGAACCCAGTTCCCAGTGTGGAAAAGACCATTTTCCTCAAAACCCTAGTGGTTCTTCTGCTCTGAACTTACCTTAAAGTAATCTCCAAAAGACCAAGAGCCCAGCATCTCGAAGAAGGTGTGATGATAGACATCCTTGCCCACATCGTCCAGGTCATTATGTTTGCCCCCAGCCCGGATGCACTTCTGGGTATTGGCAGCTCTGCTCAGCTTTGCCATGGGGTGAGATGGGTCAATTGTGTTCAGGAAAATGGGTTTAAACTAAAAGAGAAGGACAGCAGTTCAACTTTTAAAGGGTGCAAGTGATGTCAGGTGGCCACACACTAGCAGGAAGAGACGACCACACACTAACTGTGCAGTTCATGATTAACATGCCTGGAATATAGACACTTGTCAGAACAGGTGGCCTGGTGGAGCCAAAGCAGAGGGTAGCCTCTCATGGAGCAGTTTCTCCTTGAACCTAGCTCCCTAACAGTCCCCACCACCACGAGTGACACCACCTGCAGAGGGGAAAGGCCTGCCAGATCTAACAGCCACAGGTTGATGTGGTAAAACGTGGGCTTCTTCACCAGTCTCTGAAGTTCAGGGCTTATACCATCTTTCTGGAAGAACTTATCCTGAAAATTGGTATGTTCACTTGGCAGTAAATGTGAGGAAGAAGAAAAAAAAACTGACACATATTAAGGGAATAATATCAGCACACTGATGAATGATTGGATGTATCAGTCGTCTAGCTGGGACGGCCTTGCTCTGAGGATGTATCAGGTCATGCTTTGATGTATCATTGTTATTTGTTAACTTTGTTTTATTTTTCCCACTAGATCTGTTCAATTCACTGCTATCCAATTTGGTAGCCACTAGACACTTTTTTTTTTTTTTTTTGAGATGGGTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGGTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACGTACAGGTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACACCTAACCCCAAGTGATTTGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAATGACTGCGCCAGGTCTTACCATTAGACACTTGTGACCATGTAAAACTGAATTAAAATTAGGCTGGGCAAGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGAAGGGAGGATTCCTTCGAGCCCAGAGTTCAAGACCAGCCTGGGAAACATAAGGAGACCCCTTCTCTATTTTTATAAAAATAAAAAACTAAAATTAAATAATTAGTAATTAATATTTTTAAAAATTAGAAATTCTCAGCTGGGCGCAGTGGCTCATGCCTGTAATCCCCAGCACTTCAGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCCACTAAAAATGCAAAATTAGCCAGCCATGGTGGTGCACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTCTACTCCAGCCTGGGCTACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAGCAAGAGAGAAAGAAAAAAATTAGAAATTCTGTTCCTCAGTCACACTAGCTCAATAATCACACGACTGACGGCTGCCATGTTGAGGAGAACATTTCTGTCACTGCAGAAAATTCTACTGGACAGTCCCGTATTAGATCACAAACTCCTTAAAAGCAAACACTCTCTCACTCATCTCTGTATCTTCGGCACCTAGCTGGGTGCCTAATATCATTTCAAATTGGGGGAAAAAAAAAAGGCAAGGTATTTGCTGATCAAGAGGCAATATGGCACAAAGGTTAAGGAAGTGACTATCTGGGTTCAAGTCCACACTGGCACTTACCGACTATGTGAGCATGGACAACTGACTTGAGATCTCAGTGCCTCAGTAGGGATGGCAACAGAGTTCGGCGTAAATGAGTTATTGTACGCGAAGGACACAGAGCAGCGCCTGGCACACAGTAAGTGCTGCATGCAGGCTGACAGCTACTGTC
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TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACAAACATAAACAACAGAATTATTGAACATATTAAGAAGCAACGAATGGATCTAAAGATATGGGCCAGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCAGTCTCTACTAAAAAATATATATATATAAAAAAACAATTGGCCGGGCATGGTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCAACAACAACAACAACAAAAATATATATATATTAGCTGGGTGTGGTGGCAGGCATCTGCAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCATGAACCCAGGAAGCAGAGTTTGCAGTGAACTGAGATCACGCCACTGCACTCCAGTCTGGGAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCATATGAATGCGGCCGGGCACGGTGGATTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAAATACAAAAGTTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCCAGGAGACAGAGGTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTAGCTGACAGAGCAAGCTCTGTCTCAAAAAAATAAATAAATAAATAAATAAAGATATTAATGCATCTAAAGATAATTACTCTGTCGCCCAGGCTGGAGTGCAGTGGAGTGATCTCAGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTAGCCTCACTCCTCCCCATGTGCATCTCAAAAGGAACCCTGAGATGCAAAATGACCACATATTCCAGGTCATAAAACCCCACTCTGGCACTGAGTGTCATTTCACTCCTCCATACTCTCAAGAAGTGATGTGCATTCTTACCCCAAATTTTGCCAGATCTGTTTGCATTCCAGATCTGCTTCTAAGCCAGCTGCTTCATCCCCGCCAAAGTAAGTAACATAAAGTCTTTCAATGGGAATGCCAAACTCTTGGGTGAGGAGTTCCAGAGCCATCTTACATGCCAATTCCTACAAAAAGAACAGAGAGAAAGATATGGAACATTGCCAAACCAAAATCTATTTAGTATGAGACCAGATGCTAGGAACACAGATACAAAATCACAACATGTTCACTCTAAATTCAAATTCAAGATCAGTTTATGTAAGAAATCCAAATATATACTGAAATCACCAAATTATAGGTACTACTTCCAGGAAGTCTTAGAATTAATAAATGCCATTCATTCCTGAATCACCTAGATGATATTTCATATTTTAAAACATGCAAAATTAGAACCCAGTTCCCAGTGTGGAAAAGACCATTTTCCTCAAAACCCTAGTGGTTCTTCTGCTCTGAACTTACCTTAAAGTAATCTCCAAAAGACCAAGAGCCCAGCATCCCGAAGAAGGTGTGATGATAGACATCCTTGCCCACATCGTCCAGGTCATTATGTTTGCCCCCAGCCCGGATGCACTTCTGGGTATTGGCAGCTCTGCTCAGCTTTGCCATGGGGTGAGATGGGTCAATTGTGTTCAGGAAAATGGGTTTAAACTAAAAGAGAAGGACAGCAGTTCAACTTTTAAAGGGTGCAAGTGATGTCAGGTGGCCACACACTAGCAGGAAGAGACGACCACACACTAACTGTGCAGTTCATGATTAACATGCCTGGAATATAGACACTTGTCAGAACAGGTGGCCTGGTGGAGCCAAAGCAGAGGGTAGCCTCTCATGGAGCAGTTTCTCCTTGAACCTAGCTCCCTAACAGTCCCCACCACCACGAGTGACACCACCTGCAGAGGGGAAAGGCCTGCCAGATCTAACAGCCACAGGTTGATGTGGTAAAACGTGGGCTTCTTCACCAGTCTCTGAAGTTCAGGGCTTATACCATCTTTCTGGAAGAACTTATCCTGAAAATTGGTATGTTCACTTGGCAGTAAATGTGAGGAAGAAGAAAAAAAAACTGACACATATTAAGGGAATAATATCAGCACACTGATGAATGATTGGATGTATCAGTCGTCTAGCTGGGACGGCCTTGCTCTGAGGATGTATCAGGTCATGCTTTGATGTATCATTGTTATTTGTTAACTTTGTTTTATTTTTCCCACTAGATCTGTTCAATTCACTGCTATCCAATTTGGTAGCCACTAGACACTTTTTTTTTTTTTTTTTGAGATGGGTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGGTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACGTACAGGTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACACCTAACCCCAAGTGATTTGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAATGACTGCGCCAGGTCTTACCATTAGACACTTGTGACCATGTAAAACTGAATTAAAATTAGGCTGGGCAAGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGAAGGGAGGATTCCTTCGAGCCCAGAGTTCAAGACCAGCCTGGGAAACATAAGGAGACCCCTTCTCTATTTTTATAAAAATAAAAAACTAAAATTAAATAATTAGTAATTAATATTTTTAAAAATTAGAAATTCTCAGCTGGGCGCAGTGGCTCATGCCTGTAATCCCCAGCACTTCAGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCCACTAAAAATGCAAAATTAGCCAGCCATGGTGGTGCACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTCTACTCCAGCCTGGGCTACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAGCAAGAGAGAAAGAAAAAAATTAGAAATTCTGTTCCTCAGTCACACTAGCTCAATAATCACACGACTGACGGCTGCCATGTTGAGGAGAACATTTCTGTCACTGCAGAAAATTCTACTGGACAGTCCCGTATTAGATCACAAACTCCTTAAAAGCAAACACTCTCTCACTCATCTCTGTATCTTCGGCACCTAGCTGGGTGCCTAATATCATTTCAAATTGGGGGAAAAAAAAAAGGCAAGGTATTTGCTGATCAAGAGGCAATATGGCACAAAGGTTAAGGAAGTGACTATCTGGGTTCAAGTCCACACTGGCACTTACCGACTATGTGAGCATGGACAACTGACTTGAGATCTCAGTGCCTCAGTAGGGATGGCAACAGAGTTCGGCGTAAATGAGTTATTGTACGCGAAGGACACAGAGCAGCGCCTGGCACACAGTAAGTGCTGCATGCAGGCTGACAGCTACTGTC
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Task1_train_22872
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A variant on Chromosome 16 in gene FCSK (fucose kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; not provided
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TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGCAGCTACAAGGAGGAAAATGATACATACCTTTCATTACTGAAGATGGAAAGATGTGTAAGTTAGATAAGAGAAAAACAGATCCTGATGACCTTCCTTCCAACATAAACCACCTGTCAGAAGACGGTGCAGGGAGACTCAGGCCAAAGGGAAGGTATCTGTCAGCCTCTCCTCTGACTAAAACTCCCCTAGGAGGGGCAGAGGTCAGTGTAAAATATGTATTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCAGCCTCCCTAGAAGCTGGGATTACAGGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACTAGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCTGCCCGCCTTAGCCTCCCAAAGTGCTGTGATTACAGGCGTGTGCCACCGTGCCCGGCCATAGTGTAAAATCTTTATTCTTCAGTGTGGTTTATCCCAATTCCAATTATACATTAGGTCTAAAACAAAACTCAGGCCTTGGGAATTCCAAGCTTTGCCCTAGAGTGAAGCCCATTCCCTTGCTGGGATTGTTCTGGGGACAGAAGCTGCATAGCTCACTGTCCTGTGGAGTTGAGGGAAGCTATCTTTCCACACTGGTCCCAGCAAGGGGTGCAGGGCCGGGAGCCTAGGCTGGGAGAGTGAAGCTGGGCCAGATAGACTCCAACAGTGACAGTCCCTGGGCTCACAGGAGGTGGCTGGCAGGACCAAGTAGGTGGCCTAATGCCTGGCATCAAGGTGGGGCGCTCCCGGGCTCAGCTGCCACTGAAGGTGGAGGTAGAAGAGGTCACGGTGCCTGAGGGCTTTGTCCAGAAGCTCAATGACCACCTGCTCTTGGTGTACACTGGCAAGACCCGCCTGGCTCGGAACCTGCTGCAGGTGAGCTCTGGCCCCAGCATGAGGGAGGCAGGCAGGGGGCCTGCCAGCTGGGCCTGGGTCCTCACCACCCCTTCTCCTGCCCCGTCCGCAGGATGTGCTGAGGAGCTGGTATGCCCGACTTCCTGCTGTGGTGCAGAATGCCCACAGCCTGGTACGGCAAACTGAGGAGTGTGCTGAAGGCTTCCGCCAAGGTGAGGGGCTTCCTCTGGGGGGGTCAGGGCACTGGGAGCGAGTATTCTGTCACTTGTGGGTTTGAGGCCAGGGTCATCTGCAGGCTTGGCACAAGCTCCAGATATTCGGCCTCTGGGAACAGAAGCCTACTGTCTGTCCTCTCCAGGGTCTCACATTTAGGGGAGAGCTACATCTGAGGACAAAATTTTCATCATGGGAAAGGCCCTCCAGCCCTAACAGGAAGCAGAGAGGGGAAGGGACTCAACCCATGGCTGAGTTCCAAGGAAGTCTGAGCTGGGCAGGGTCCCCAGTGTGTGGCTTCACAGCTCCCTAGATGCCGACTATGCTGGGTGTGGTGTTGGTTGCTTCCTGCACATTGGTCCTCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACAT
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TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGCAGCTACAAGGAGGAAAATGATACATACCTTTCATTACTGAAGATGGAAAGATGTGTAAGTTAGATAAGAGAAAAACAGATCCTGATGACCTTCCTTCCAACATAAACCACCTGTCAGAAGACGGTGCAGGGAGACTCAGGCCAAAGGGAAGGTATCTGTCAGCCTCTCCTCTGACTAAAACTCCCCTAGGAGGGGCAGAGGTCAGTGTAAAATATGTATTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCAGCCTCCCTAGAAGCTGGGATTACAGGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACTAGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCTGCCCGCCTTAGCCTCCCAAAGTGCTGTGATTACAGGCGTGTGCCACCGTGCCCGGCCATAGTGTAAAATCTTTATTCTTCAGTGTGGTTTATCCCAATTCCAATTATACATTAGGTCTAAAACAAAACTCAGGCCTTGGGAATTCCAAGCTTTGCCCTAGAGTGAAGCCCATTCCCTTGCTGGGATTGTTCTGGGGACAGAAGCTGCATAGCTCACTGTCCTGTGGAGTTGAGGGAAGCTATCTTTCCACACTGGTCCCAGCAAGGGGTGCAGGGCCGGGAGCCTAGGCTGGGAGAGTGAAGCTGGGCCAGATAGACTCCAACAGTGACAGTCCCTGGGCTCACAGGAGGTGGCTGGCAGGACCAAGTAGGTGGCCTAATGCCTGGCATCAAGGTGGGGCGCTCCCGGGCTCAGCTGCCACTGAAGGTGGAGGTAGAAGAGGTCACGGTGCCTGAGGGCTTTGTCCAGAAGCTCAATGACCACCTGCTCTTGGTGTACACTGGCAAGACCCGCCTGGCTCGGAACCTGCTGCAGGTGAGCTCTGGCCCCAGCATGAGGGAGGCAGGCAGGGGGCCTGCCAGCTGGGCCTGGGTCCTCACCACCCCTTCTCCTGCCCCGTCCGCAGGATGTGCTGAGGAGCTGGTATGCCCGACTTCCTGCTGTGGTGCAGAATGCCCACAGCCTGGTACGGCAAACTGAGGAGTGTGCTGAAGGCTTCCGCCAAGGTGAGGGGCTTCCTCTGGGGGGGTCAGGGCACTGGGAGCGAGTATTCTGTCACTTGTGGGTTTGAGGCCAGGGTCATCTGCAGGCTTGGCACAAGCTCCAGATATTCGGCCTCTGGGAACAGAAGCCTACTGTCTGTCCTCTCCAGGGTCTCACATTTAGGGGAGAGCTACATCTGAGGACAAAATTTTCATCATGGGAAAGGCCCTCCAGCCCTAACAGGAAGCAGAGAGGGGAAGGGACTCAACCCATGGCTGAGTTCCAAGGAAGTCTGAGCTGGGCAGGGTCCCCAGTGTGTGGCTTCACAGCTCCCTAGATGCCGACTATGCTGGGTGTGGTGTTGGTTGCTTCCTGCACATTGGTCCTCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGCAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACAT
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Task1_train_22873
|
This variant affects the gene COG4 (component of oligomeric golgi complex 4) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; COG4-congenital disorder of glycosylation
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TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACATGGTTTAGAGGGAAGTGGCGGGGATCCATCTTTGCCTCTTTCAGTCACCCCTCCCTGGCTGGGCCAAGGGTGCCCCACCTACCCGCTCCAGATTGAGGATGGTGGCCATCTGGGAGAGCCGGGCAAACTTGTCTCGGATGGTCCAGGTGGTCACCGTGGTAAGGTAGGCAATGAGCGACCTCAGCTCCTTGTCAAACTGCAGACCACCCAGCTGCAGGAGAACCCAAGCCCAGTCACTACTTAGGCCTGGCCAAGCAGAACTGGCCTCCAGTTGCCCCCAGAGCTGGGTGGCAAGGCCCGCCAGGCCTCAGGTGGTGCCCTGTGGTTTGTTTGCTCTACGGCTTCAGAAGCCAGAGCAGGACTGGACCCAGACATGCAGGGCCTGTGGGCAGCAGACAGAGGGGATGCAAGTCCTGGGGGTGGTGGCATGACATGTCTTCCTCAGAGGAGAAACGAGAGCCGCAGACCCATGACCCCTTTACCTTACCCGGTTAAAGGTGGATTTCAGCACCACTTTCTCCAACTCGACGGCAACAAGGCTAGTCATGAGGCCGGTTAGGCTGTCGTAGATGACCGGGGACAGGCTGGCCTGCACACAGAGGGTTGACATCAGCCGAGCCCCACCTAACTCCTCTGCCTCTATGCTGGAGTCTTAGGTGGTGAGGATAGTAGCGTGAGGCCACGGGGGAGTTTCTACAGGTGAGGGTTGGAAGGGCTTTCAGGGTCCCCAGAAGGAATGTGATGAGACCCTGCAGGCTGCTGGTTTGGGCTGACGTGGGTAATTCCCTAAGTGGATCCCTAGGGCCCCTGCTCACCTTGAACTCTGCCATTTGCTGCTCCAGGTTAAGGATGAACTGTTGTACCCAAGGGTCGTTGGCCTCATAGTCATTGAATTCTTCCTGTTGTCAGGAAGCAGGGCTGGTCACCATGGGCCTCATAAGAAGTACCATTCATTGCCACCCACCTCTATCCCTCTAAGAAAATAATGTAAAACATTCTTCCTTCCCTGTGCCTTCTGACTCATCTAGTTTAAAACCAGCTCAGACACCCAGGCTGGCAGAAACTGACCAGCAAACAGCCCAGGGCTGTAGCAGTGGCCCACATAACATGGTAAAGTTCCTGGCATTTTATTCCTTCTTGGATCTCTTGTTCTACAGGAATGAAATCACTACGCCAGGAGGAAAAAAACGCTTCTAAGTCTATCATAGGCGGGGCAAAAAGAGCTCCAATAAGGGAATAAGTTAGGTCAAGGCAAACTCCATGTCTTTCTGAGCCCTTCTGACTAGGGACAAACTGTTTCCTGGGAGGAACCTAGTCTTCATGGGTCAGGGTGGGGGAAGTGGGCCTGGGAAGCATGGAAGGTCTAGTCTGTTCAGATGGCTCTGCTCCCTCTAGCTGGGGCTAGGGATGAGGGGTCATCGGGGCTTGATGGCTGCCTGTGGCCAGGCTAACCTCCTCGATGTTGTGGGAGACGGAGAAAAAGCTGTTGATCCAAGGCTGCACCTGTGGCTTGATGGCTGTGCTGTTGAGCTCCGTCAGCCCTTCCTGCACAAGGACAAGGTGGAGACATGTGACACAGAAGGCACGACTCATCCCTTCCCTCTCTCTTCTCCCCATCCCTTCCCTCTATCCTCTCCCCATCCCTTTCCTCTCCTCTCCCCATCCCTTCCTTCTCTCCTCTCCCCATTTCTTCCTTCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCTACCCCTTCCCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCCACTCCTTCCCTCTCTTCTCCCCACCCCATCCCTCTTTTCTCCCTACCCCATCCCTCTC
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TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCCGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACATGGTTTAGAGGGAAGTGGCGGGGATCCATCTTTGCCTCTTTCAGTCACCCCTCCCTGGCTGGGCCAAGGGTGCCCCACCTACCCGCTCCAGATTGAGGATGGTGGCCATCTGGGAGAGCCGGGCAAACTTGTCTCGGATGGTCCAGGTGGTCACCGTGGTAAGGTAGGCAATGAGCGACCTCAGCTCCTTGTCAAACTGCAGACCACCCAGCTGCAGGAGAACCCAAGCCCAGTCACTACTTAGGCCTGGCCAAGCAGAACTGGCCTCCAGTTGCCCCCAGAGCTGGGTGGCAAGGCCCGCCAGGCCTCAGGTGGTGCCCTGTGGTTTGTTTGCTCTACGGCTTCAGAAGCCAGAGCAGGACTGGACCCAGACATGCAGGGCCTGTGGGCAGCAGACAGAGGGGATGCAAGTCCTGGGGGTGGTGGCATGACATGTCTTCCTCAGAGGAGAAACGAGAGCCGCAGACCCATGACCCCTTTACCTTACCCGGTTAAAGGTGGATTTCAGCACCACTTTCTCCAACTCGACGGCAACAAGGCTAGTCATGAGGCCGGTTAGGCTGTCGTAGATGACCGGGGACAGGCTGGCCTGCACACAGAGGGTTGACATCAGCCGAGCCCCACCTAACTCCTCTGCCTCTATGCTGGAGTCTTAGGTGGTGAGGATAGTAGCGTGAGGCCACGGGGGAGTTTCTACAGGTGAGGGTTGGAAGGGCTTTCAGGGTCCCCAGAAGGAATGTGATGAGACCCTGCAGGCTGCTGGTTTGGGCTGACGTGGGTAATTCCCTAAGTGGATCCCTAGGGCCCCTGCTCACCTTGAACTCTGCCATTTGCTGCTCCAGGTTAAGGATGAACTGTTGTACCCAAGGGTCGTTGGCCTCATAGTCATTGAATTCTTCCTGTTGTCAGGAAGCAGGGCTGGTCACCATGGGCCTCATAAGAAGTACCATTCATTGCCACCCACCTCTATCCCTCTAAGAAAATAATGTAAAACATTCTTCCTTCCCTGTGCCTTCTGACTCATCTAGTTTAAAACCAGCTCAGACACCCAGGCTGGCAGAAACTGACCAGCAAACAGCCCAGGGCTGTAGCAGTGGCCCACATAACATGGTAAAGTTCCTGGCATTTTATTCCTTCTTGGATCTCTTGTTCTACAGGAATGAAATCACTACGCCAGGAGGAAAAAAACGCTTCTAAGTCTATCATAGGCGGGGCAAAAAGAGCTCCAATAAGGGAATAAGTTAGGTCAAGGCAAACTCCATGTCTTTCTGAGCCCTTCTGACTAGGGACAAACTGTTTCCTGGGAGGAACCTAGTCTTCATGGGTCAGGGTGGGGGAAGTGGGCCTGGGAAGCATGGAAGGTCTAGTCTGTTCAGATGGCTCTGCTCCCTCTAGCTGGGGCTAGGGATGAGGGGTCATCGGGGCTTGATGGCTGCCTGTGGCCAGGCTAACCTCCTCGATGTTGTGGGAGACGGAGAAAAAGCTGTTGATCCAAGGCTGCACCTGTGGCTTGATGGCTGTGCTGTTGAGCTCCGTCAGCCCTTCCTGCACAAGGACAAGGTGGAGACATGTGACACAGAAGGCACGACTCATCCCTTCCCTCTCTCTTCTCCCCATCCCTTCCCTCTATCCTCTCCCCATCCCTTTCCTCTCCTCTCCCCATCCCTTCCTTCTCTCCTCTCCCCATTTCTTCCTTCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCTACCCCTTCCCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCCACTCCTTCCCTCTCTTCTCCCCACCCCATCCCTCTTTTCTCCCTACCCCATCCCTCTC
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Task1_train_22874
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With a mutation on Chromosome 16 in gene COG4 (component of oligomeric golgi complex 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCGGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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Task1_train_22875
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Here is a genetic alteration in COG4 (component of oligomeric golgi complex 4) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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Task1_train_22876
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A variant was discovered in gene COG4 (component of oligomeric golgi complex 4), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Inborn genetic diseases
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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Task1_train_22877
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This variant lies on Chromosome 16 and affects the gene COG4 (component of oligomeric golgi complex 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; COG4-congenital disorder of glycosylation
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
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Task1_train_22878
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A mutation found in VAC14 (VAC14 component of PIKFYVE complex) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Striatonigral degeneration, childhood-onset
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GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGG
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GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCAAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGG
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Task1_train_22879
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Chromosome 16 houses a mutation in gene VAC14 (VAC14 component of PIKFYVE complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Striatonigral degeneration, childhood-onset
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GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGGGCAG
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GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGAGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGGGCAG
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Task1_train_22880
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The gene VAC14, VAC14-AS1 (VAC14 component of PIKFYVE complex| VAC14 antisense RNA 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Striatonigral degeneration, childhood-onset
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GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGACAGCTGCCCGGGCCCCCCACAAGCCTGGCACCAGCCCAGGGAAGACTGAGGAGCCTCACTCCATGGGGACTGGTGAGCAATAGCCCTCTCCCATCCCCCCCACCCAGCCTCATCCACTCTCTGCAGTGTGGGCAGGTCTGTTGATTCACGAGCTGGCTGCCTCATGGAGATACAGCTCTGCCTACAGCTCACAGTGCCTTGGCGCTCAGAAGAGGAAAGTGGGCTGAGGCTCAGCTTGGACCGTCAGCATCTGAGATGCAGCCTGAAGAGCTGGTATGGATGGAGGGATGGGATGCTGCCGTGCAATGGGCACGCGCAGCTGCAAACCCTGCCGCTTGGCTGGGAGGCAGGGGAACCCGGTAAAGGAACACCACGCAATGGGCATGGCTGAGAATGGAGTGTGGAAAGGTGTGTGTGGCTGGGGCAGACTCCTGCCCAGATGACAGGAAGAGCCAGGGGCCCCCTCCACCTCCCAGGCCAGCCTCTGTACTCCAGCTCTCTCAGAGGGCTCACTCCTGCTGCCTGGGATCTGGGTCAGCCTCTCCCTCTGCACCAGCAGCTCTTGGTGGCCCCAAAAAGGCAAAGCTTAAGGGTCCAATTTCAAACTAGAGGTCATAATGGAGTCCAGCTGAAATGAGTAACACAACCAACGCTAACTGAGCGTGCAGCAGGGGCCCGGCCCAGTGCTTAGCATTTTACATGGATCATTTCCCTCTCACATCCCCCTATGGTTACTGCCCTCATTGAACAGAGGAAAACTGAGATGCTGAGATGCAGAGATACTAAGTGTCTTGCCTTTGGGCAGCCTCACTCCAAGCCAAGCTCCCCGCCTGTCCTGTGCTGCCTCCCTTACTGACACTCTGCCCCAGCTGCTCCAGAAGGGACTACAGAAGAGTCCTCACTCCTAAAGTGAGTTTTTTTTTTTGTTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAACCTCCTGAGCAGCTGGGAGTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTGAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGAAAAACAGGTGTGAGCCACTGCACCTGGCCCCAAAGTGAGTATTAAACACAGCTTTACCTCTAGGAAGGATGCACTGTACCAAAATAAGCATATCTCAGTCACTAACAAGGGGAGGCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGTGCAGTGCAGTGTCCCGCTGGTGTGCACGGACCCACTGGTCTGCACGGACCACTTCCCTCCCCGACACAATGAGGGCTCCTCGCAGCACCTGTCACTTCTCTGCCGGCCAGGGTTTCCCTAGAAGGGCAATGACCAAAATGCTACCAACTATGGGCAGGCCCTGGAAAACCAAGGCGGACCCAGAAGAGGCCCCTGGCTTGGAGGGGCCCAGGGCTCACCTTCCGAGGAGTTTTGATGTAGAGGTGGTAGAGCCACTTGAGAACTGCAATCCTGGTCATCATCCCAATGGCCGTGTCACTGAGGTGGCAGTTTAGGACCTGCACGATCCCGTCGAGGTGAAGGGTCACTGGGGCTCTTTCAGTGCTGTGGGTAAGATCGGGAGGGAGAGCAGAGGTGAAGCCCACCATAGCCCTCTCCCATGGAGTCATGGCACCACCCTGGGCCTGCACATCCTGAGTCACACACTGCTAACCACCGTCTAGGGGGATCGGGGGTCAGGGATAACCTGATCCCACACATCCTTGCTGGTCTCCCACCATCCCAGCTCAGCCCAGCCCAGGGGTTTGAAGGGGGCTTCTCTCTCTCCCTTTCCAAAGAAGTTTGGAGCTTGCTGCTGGGCTGGAACCATGATAACCATGTTTTGGGGGATGAGGACCAGTCTGCTGGGCTCCCACTCACTTTTCCTTTTCTTTCTCCAGCACCAGCCTGGCTTGCACAGGAGGAGAAACCCTCTCCCAGTCACTGAGCTGACCTGACCAGGCTCAAGGCATTAAGTTCAGACCCTTTCTTGGAAAAACAAAACCACCAGGTCTGGACTGTATGAGGGAAGGTCCCGATAACAACTGTTGACCTCCGCCAGGCCCTTCACCGGCCATCTGAAGGATGTTTCTCAAGTGAGGTCAGGGATCGAGGCTTGTCATTGTGCCTTGCCACTGCACCAGGGCACTCAGCACATTTGGCCTAGGAGAGACACCCTTGAGAGTTAAGACCAAAATGCGCTCCTTTGAGTTGGGGAAGGGGTAAACACAGCCTCTGCCTATGAGAAACGGATATTGTTCAGGAGGTACTTTTGTTCTGGTGGGCACAGGAAGCCCCCTGGCTTCTGTGGACTGAAGTCCTGCGGGTCCCCAAAGTTCTGCTAAGCAGCCTGCGGGACAGCGGGTGCTGCTGGGAGGCTTGAGTTGGTTTTTTGCCCAAAGCACTGCTCCCTGGCACAGGCTGGGTTTTCAAGGTGGGGGCAGCATGGGTAGAAAAACCTCGGGATATTGGGGAGGGGCTCCCTTCCTACCGAGGCACTACACTGTACTTCCCAAATGGTGCCGACAGGTGCAGGCCAGGGGTTGCATTTTCTAAGGACCTGGGCCAGCAGATCAGTCCCCTGCCGGTATAAAACCGTCTCTTCGTGGCATTTCTAGGCTGCTCAATTATTCATTTGCATCAGGAACTGATGGCTGTGCTTTCCTCACTCGCCTGCAGCCTCTCTGAAGCTCATTTGATGTGAATCCCTAAAGGGCATGATTCTGCGCTCTGTAATTGCTGAGAGGAATTGCTATTTAATATGGTTTGATGATCCCCATGGTGCACATTTCAGGGGCAAGAGTGGGCACATCTATCCTCTGGTGGCCAGGAGCTCCGGGCATGTGATACAGCCACAGAGCCTGGAACTGAGTCTCTGGGCGGGTGGCCACTGTGATATCCCTAGTGGTCACGTGGCTGGAAGTTCCTGGTGTCTTCTGAGGATATCGAAACACTTAAATCTTTGCTAGCCTGAGACAGACGGGGACAGTACTGTGCAGGTAGAGGAGTCTAGGGCGGTAAACACTGGCCCCGTCAATCTCTTAATCAGTTTCTCTCAAGTCCACTGTCCCGCAGAAATACAACGCAAGTCACAGATATAATTTTACATCTTCCAGTTTTCAATTAAAAAGGAGAAACAGGTGAAATGAATTTCAATGCTGTTTTAATTGACCCAATGTATCTAAAATATTAGCATCTCAACATGTAATCAATATAACAGTGAATGTAAACATTCCCAACAAAATCTATTCTCTTTTGTGTCCTAAGCCTTTGGGACCTGGTGTGCATTTCACCGTTACGGTGCACCTCGGTTCAGAGTAGCCAACAGGCACTCAGTAGCCACGTGGCTGCCGCGGAGGCCCACACAACAGTCCACGCCAGGACTTTCTGAGTGTTTCCTTGTCATCTCTGGCAGTTTCCTAGCCACTCCCTTAGCTGACGGCCAGCATTTACTGTTTTATCTCCCATTCCCTCTTTTTCCCGTCCTGCAGAGCTCCTTCCCT
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GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGACAGCTGCCCGGGCCCCCCACAAGCCTGGCACCAGCCCAGGGAAGACTGAGGAGCCTCACTCCATGGGGACTGGTGAGCAATAGCCCTCTCCCATCCCCCCCACCCAGCCTCATCCACTCTCTGCAGTGTGGGCAGGTCTGTTGATTCACGAGCTGGCTGCCTCATGGAGATACAGCTCTGCCTACAGCTCACAGTGCCTTGGCGCTCAGAAGAGGAAAGTGGGCTGAGGCTCAGCTTGGACCGTCAGCATCTGAGATGCAGCCTGAAGAGCTGGTATGGATGGAGGGATGGGATGCTGCCGTGCAATGGGCACGCGCAGCTGCAAACCCTGCCGCTTGGCTGGGAGGCAGGGGAACCCGGTAAAGGAACACCACGCAATGGGCATGGCTGAGAATGGAGTGTGGAAAGGTGTGTGTGGCTGGGGCAGACTCCTGCCCAGATGACAGGAAGAGCCAGGGGCCCCCTCCACCTCCCAGGCCAGCCTCTGTACTCCAGCTCTCTCAGAGGGCTCACTCCTGCTGCCTGGGATCTGGGTCAGCCTCTCCCTCTGCACCAGCAGCTCTTGGTGGCCCCAAAAAGGCAAAGCTTAAGGGTCCAATTTCAAACTAGAGGTCATAATGGAGTCCAGCTGAAATGAGTAACACAACCAACGCTAACTGAGCGTGCAGCAGGGGCCCGGCCCAGTGCTTAGCATTTTACATGGATCATTTCCCTCTCACATCCCCCTATGGTTACTGCCCTCATTGAACAGAGGAAAACTGAGATGCTGAGATGCAGAGATACTAAGTGTCTTGCCTTTGGGCAGCCTCACTCCAAGCCAAGCTCCCCGCCTGTCCTGTGCTGCCTCCCTTACTGACACTCTGCCCCAGCTGCTCCAGAAGGGACTACAGAAGAGTCCTCACTCCTAAAGTGAGTTTTTTTTTTTGTTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAACCTCCTGAGCAGCTGGGAGTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTGAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGAAAAACAGGTGTGAGCCACTGCACCTGGCCCCAAAGTGAGTATTAAACACAGCTTTACCTCTAGGAAGGATGCACTGTACCAAAATAAGCATATCTCAGTCACTAACAAGGGGAGGCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGTGCAGTGCAGTGTCCCGCTGGTGTGCACGGACCCACTGGTCTGCACGGACCACTTCCCTCCCCGACACAATGAGGGCTCCTCGCAGCACCTGTCACTTCTCTGCCGGCCAGGGTTTCCCTAGAAGGGCAATGACCAAAATGCTACCAACTATGGGCAGGCCCTGGAAAACCAAGGCGGACCCAGAAGAGGCCCCTGGCTTGGAGGGGCCCAGGGCTCACCTTCCGAGGAGTTTTGATGTAGAGGTGGTAGAGCAACTTGAGAACTGCAATCCTGGTCATCATCCCAATGGCCGTGTCACTGAGGTGGCAGTTTAGGACCTGCACGATCCCGTCGAGGTGAAGGGTCACTGGGGCTCTTTCAGTGCTGTGGGTAAGATCGGGAGGGAGAGCAGAGGTGAAGCCCACCATAGCCCTCTCCCATGGAGTCATGGCACCACCCTGGGCCTGCACATCCTGAGTCACACACTGCTAACCACCGTCTAGGGGGATCGGGGGTCAGGGATAACCTGATCCCACACATCCTTGCTGGTCTCCCACCATCCCAGCTCAGCCCAGCCCAGGGGTTTGAAGGGGGCTTCTCTCTCTCCCTTTCCAAAGAAGTTTGGAGCTTGCTGCTGGGCTGGAACCATGATAACCATGTTTTGGGGGATGAGGACCAGTCTGCTGGGCTCCCACTCACTTTTCCTTTTCTTTCTCCAGCACCAGCCTGGCTTGCACAGGAGGAGAAACCCTCTCCCAGTCACTGAGCTGACCTGACCAGGCTCAAGGCATTAAGTTCAGACCCTTTCTTGGAAAAACAAAACCACCAGGTCTGGACTGTATGAGGGAAGGTCCCGATAACAACTGTTGACCTCCGCCAGGCCCTTCACCGGCCATCTGAAGGATGTTTCTCAAGTGAGGTCAGGGATCGAGGCTTGTCATTGTGCCTTGCCACTGCACCAGGGCACTCAGCACATTTGGCCTAGGAGAGACACCCTTGAGAGTTAAGACCAAAATGCGCTCCTTTGAGTTGGGGAAGGGGTAAACACAGCCTCTGCCTATGAGAAACGGATATTGTTCAGGAGGTACTTTTGTTCTGGTGGGCACAGGAAGCCCCCTGGCTTCTGTGGACTGAAGTCCTGCGGGTCCCCAAAGTTCTGCTAAGCAGCCTGCGGGACAGCGGGTGCTGCTGGGAGGCTTGAGTTGGTTTTTTGCCCAAAGCACTGCTCCCTGGCACAGGCTGGGTTTTCAAGGTGGGGGCAGCATGGGTAGAAAAACCTCGGGATATTGGGGAGGGGCTCCCTTCCTACCGAGGCACTACACTGTACTTCCCAAATGGTGCCGACAGGTGCAGGCCAGGGGTTGCATTTTCTAAGGACCTGGGCCAGCAGATCAGTCCCCTGCCGGTATAAAACCGTCTCTTCGTGGCATTTCTAGGCTGCTCAATTATTCATTTGCATCAGGAACTGATGGCTGTGCTTTCCTCACTCGCCTGCAGCCTCTCTGAAGCTCATTTGATGTGAATCCCTAAAGGGCATGATTCTGCGCTCTGTAATTGCTGAGAGGAATTGCTATTTAATATGGTTTGATGATCCCCATGGTGCACATTTCAGGGGCAAGAGTGGGCACATCTATCCTCTGGTGGCCAGGAGCTCCGGGCATGTGATACAGCCACAGAGCCTGGAACTGAGTCTCTGGGCGGGTGGCCACTGTGATATCCCTAGTGGTCACGTGGCTGGAAGTTCCTGGTGTCTTCTGAGGATATCGAAACACTTAAATCTTTGCTAGCCTGAGACAGACGGGGACAGTACTGTGCAGGTAGAGGAGTCTAGGGCGGTAAACACTGGCCCCGTCAATCTCTTAATCAGTTTCTCTCAAGTCCACTGTCCCGCAGAAATACAACGCAAGTCACAGATATAATTTTACATCTTCCAGTTTTCAATTAAAAAGGAGAAACAGGTGAAATGAATTTCAATGCTGTTTTAATTGACCCAATGTATCTAAAATATTAGCATCTCAACATGTAATCAATATAACAGTGAATGTAAACATTCCCAACAAAATCTATTCTCTTTTGTGTCCTAAGCCTTTGGGACCTGGTGTGCATTTCACCGTTACGGTGCACCTCGGTTCAGAGTAGCCAACAGGCACTCAGTAGCCACGTGGCTGCCGCGGAGGCCCACACAACAGTCCACGCCAGGACTTTCTGAGTGTTTCCTTGTCATCTCTGGCAGTTTCCTAGCCACTCCCTTAGCTGACGGCCAGCATTTACTGTTTTATCTCCCATTCCCTCTTTTTCCCGTCCTGCAGAGCTCCTTCCCT
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Task1_train_22881
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A mutation found in HYDIN, LOC121587554 (HYDIN axonemal central pair apparatus protein| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Primary ciliary dyskinesia 5
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CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAGTGCCCAAAGGACCCTGGAGACGACGAAGGCAAGAGAATTCTATTTGGTCAGCATCATGGAGATGGTCTCAGTAGGTGCTGGGTGAATCAGATTTTAGGCACAATCTTTGATCTATAAACACACATGCATGCACACAATTCAGTAATGATACATGCAGGAGCTATGTAATGGAGATTCAATCCTCATGGAAATTTGGTAGGAGATATGGTCTCCGAGTGCATAACACAAAATCTGATTGGGAAGAGAATGTGTACTGATGGAATTAATTGACAATTATTCCAAAACAAAAATGGGAAAGTATATTATATTATGGCAAAGACTATCATTAAGTGCCAAGGGAATGTAAAGTAAAAGATAACCCTAGAAGGAGCTGAGCTGGGTCTTATAGGATGTAAAGGTTTGGGTTTGGCAGAGTGGAGGATGAGAGGGATAAGGTAAGACAAAGTGTAGCTGCATGAAGCGCTGGGGTGCACTGGGGCCGGTGGGTAGACCAGCTTGGCCACAGTGAAATGTATGGACTACAAGAGGGAATTATGGGAAGTGAAACTTCCAGTGTAAAGATCACCAGTTAATAGAGAGGCTTAGGATAGCCTCACCCAGGTGAGGAATGGGCTCTGACCCAAAGGAACTCATGACAATTGACAGCCAACTCTGACCCAGCACAGCACTGACCAGATAGATGCTTTAAGCAATGACAACTCCTGGTGGGATGGGCTTGCTACTCCGTTCCCACCTTATAGATGAGGGACACTGAGGCTTGGAGAGGTGATGTGCCCAAGGTCATGCAGTCGGGAGGAAGTAAAACTGGAATAGGAAGAGGAAGTAAAACCGGAATACAAAGAGGAAGTAAAACCGGAATACGAAACCACGCTCTTTGGTCAATATCACATTGCTTTGCCAAATGCTGCTGGGATTAATTGGTCAGGGACTGACAGGATGACAACACCATTTTGGAAAATGTCGCTGGACTTACTGAATCAGAATCTGCACTTGAACAAAACTCCCAGGTGATTCATAGGCACATTACAGTGTGGGAGGAACTGCTGTAATAATTTAGGCATGGCTTGATGAGACCCTGTAATGTGATATCAGTGGCAATGGGAAGAGAAAACTGACTCAGAGAGGGACGCTGGTGATGAGTCAGCAAACCCTGGAGGCTTAGAAGGATGTGGAGAGGTGAAGGAGAGAGTGCAGCGGAAAAGCCTTGGAGATTGTGAACCCAAGGGTGGAGAAAATGGTAATGCTATTGAAAGAAATGCAGAAGTTGGAACAGGCTCCTGGATTGAAAGGGAAGAAGTGACCTTGAGCATCTAACATGCTGAGTTTCAGGAGACGATAAGAAAAGCAAGTGTAAGTATCTGGCAAACAGTTGGCAGCAGGAGGATGGTCAGGGTTAGGGAGGCTGATGGGAGATCAAGGACGGGGTGATGGCGAGACTATGATGATTGGGGTTCAGGAGAGATTTGTTTAAGATGCTTAAGACAAAACCAGAAAATCTCTACCCGATGGTTTGTGATACCTGTAATCCGTAGTGAATATCCTTGGTGTCAAAGGAATAGTTGACCAGGGACGCCTCTCCCTTCAGTGTTATTTCGTAGGTGGGTCCTTCTTCCACTTCACACAGAGCTTTAGCTTGTGCAATGATGTTAGCGTGTCCATAGAAGGTGAACGATATTTGGTGGCTACTGTGTGGCTGCAACACTCCAAACAGGGGCAAAATATCAAACACCTGCAGAGAAAGTCATTCTGTAAGAGAGCAGCTGTTGGGATGAATGCCTGCCAAGGATAAGTGAAAGTTATGTCAATTTACACATTAATTCCAGTCTTTAACTCATTTGATAGAAGGTAGCCCAGCACCCTGAAAACACATAATGGTAATGATGGTAACAGTGCTCTGGTGAGATTTAAGTTTCTAATGTGGGGCAGCTGCTCAGTTAGAAAGTAAAGTTAGTGTCTGATAAGGTCAGGAATCACACGGTGTCACTTACTTCTTCTATCCCAATGGAAAGCATCTCATTCTGTTCACAGGTCTGTAGGGATTCCTGATCCTCCACCTGGCTCTGGCTTGAGTATATTCTTTCTATTTCAGTAGAGCTAATTTTTATTTCCTAGAAATTAAAGATGTGAGGAAAAGCTGGCAAGCATTCAAAATGGATCATCAATTGACAGAAAAATAAAGTATGTTGTATATGATTATAAAAATAGTACATTTTTTCCCAGGAAGATAATTGAGCAAGTGACTATAATGTACATACGAGGATGTTTACTGCAGCATTATTTATAACAGCAAAACTTTGGAAGCCAACTCAGTGCCCATCAATAGGGGGTCACTTTAAATGAAGTGTGTGTGGTACACCTATCCATGAAGGATAATGCATGTATATTTATGGATAGGGATGATGTGCACAACATATTATTGAGTGAAAAGCAGTTCTATTCATGTAAAATTACATATGCCTCATGTGTCTGAAGGTGTGTGTGTGTAAATTCCTTCAGAGATTTGCATTGGCAAATAGAAATATCTGGGAGGTTGTTTGCTAAGAATTTCGTAGCATTTTTCTCAGTGGGGTAGAAAGAAGATGGGAATTTTGAGGATGTTTGCTTTAATTTTTCTGTATTCTTGAGTTTATATGTACACACATGTACATATATATGTACATATATATTTTATTTTTGAGACAAGATGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCAGAGCTCACTGCAGCCTTGAATGCCTGGGCTCAAGTGACCTTCCCACCTCAGCCTCCCTAAAGTAGCCAGGACTGCAGGCGTGCACCACCACACCCTGGAGTCTCGTTATGTTGCCCAGGCTGGTCTTGAACTCGTGGCCTCAAGCCATCCTCCTGCCTTGGCTCCCAAAGTACTGGGGTTACAGGCGTGAACCACTGTTTCTGGCCTATTCTTGAGTTTTCTATGACACGCATCTTTGAAAACAGAAAAAGAAGAATTAATATTTAAAAGACAAATATTTTATATACTCACACATACTCATTCTAAAAAATTTTTAAAATATAGAAAGCTCCAAGGAAAGAAATAAAAGTCCATCTCAGGTTATACTGTAGATAAATATTATTATATATATGTGTGTATATATAGTGTATTATGTGTGCATACATATTTGTATTCTGATTTTTCAGTTGACCTAATATGAGTGCCATCTTCCCATATGACTGAATATTCTTCACAAACATCACTTAAAGTATTTTAGAAAGTTGATTGTACATGATACAAATTTAAAATATTCAAAAGGATATATGGTAAAAAGATAAAAAAAGACTTCTATCCCTACAGTTCTCCGGTTCTCCCCTCCTGAGGTACCCACTGTCCAGTTTCCTATATGTTGAATTTAGTTATTCCTCTTAATTCAGCTGATATTTACTGGGGACTTACTAAGAACCAGTTCTATATCCTGAGGATATGACGATGAACAAAACAGAAAAAAAATTCCTGCCCTCATGAAGATTAAATTCCAGAGATATTCCACGCACAAGCAAAGATATCTATGTAACTGTTTGAGAGATAACACAGTAGCTAAGAGCAAGCAAGATGGTCGAGTCTTCCAGCTCCACTGCTTGATGGACGTGTCCCTGCATTGGTAAAATGGGGAAAGATAGTGGTATCCACCTCACAGAGGTGTTGGGAAAAGTAAAAGAGTTAATGTAAAAAATTGCTTAGCTGGGGGCGATGTCTCATGGCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATTGCCTG
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CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAGTGCCCAAAGGACCCTGGAGACGACGAAGGCAAGAGAATTCTATTTGGTCAGCATCATGGAGATGGTCTCAGTAGGTGCTGGGTGAATCAGATTTTAGGCACAATCTTTGATCTATAAACACACATGCATGCACACAATTCAGTAATGATACATGCAGGAGCTATGTAATGGAGATTCAATCCTCATGGAAATTTGGTAGGAGATATGGTCTCCGAGTGCATAACACAAAATCTGATTGGGAAGAGAATGTGTACTGATGGAATTAATTGACAATTATTCCAAAACAAAAATGGGAAAGTATATTATATTATGGCAAAGACTATCATTAAGTGCCAAGGGAATGTAAAGTAAAAGATAACCCTAGAAGGAGCTGAGCTGGGTCTTATAGGATGTAAAGGTTTGGGTTTGGCAGAGTGGAGGATGAGAGGGATAAGGTAAGACAAAGTGTAGCTGCATGAAGCGCTGGGGTGCACTGGGGCCGGTGGGTAGACCAGCTTGGCCACAGTGAAATGTATGGACTACAAGAGGGAATTATGGGAAGTGAAACTTCCAGTGTAAAGATCACCAGTTAATAGAGAGGCTTAGGATAGCCTCACCCAGGTGAGGAATGGGCTCTGACCCAAAGGAACTCATGACAATTGACAGCCAACTCTGACCCAGCACAGCACTGACCAGATAGATGCTTTAAGCAATGACAACTCCTGGTGGGATGGGCTTGCTACTCCGTTCCCACCTTATAGATGAGGGACACTGAGGCTTGGAGAGGTGATGTGCCCAAGGTCATGCAGTCGGGAGGAAGTAAAACTGGAATAGGAAGAGGAAGTAAAACCGGAATACAAAGAGGAAGTAAAACCGGAATACGAAACCACGCTCTTTGGTCAATATCACATTGCTTTGCCAAATGCTGCTGGGATTAATTGGTCAGGGACTGACAGGATGACAACACCATTTTGGAAAATGTCGCTGGACTTACTGAATCAGAATCTGCACTTGAACAAAACTCCCAGGTGATTCATAGGCACATTACAGTGTGGGAGGAACTGCTGTAATAATTTAGGCATGGCTTGATGAGACCCTGTAATGTGATATCAGTGGCAATGGGAAGAGAAAACTGACTCAGAGAGGGACGCTGGTGATGAGTCAGCAAACCCTGGAGGCTTAGAAGGATGTGGAGAGGTGAAGGAGAGAGTGCAGCGGAAAAGCCTTGGAGATTGTGAACCCAAGGGTGGAGAAAATGGTAATGCTATTGAAAGAAATGCAGAAGTTGGAACAGGCTCCTGGATTGAAAGGGAAGAAGTGACCTTGAGCATCTAACATGCTGAGTTTCAGGAGACGATAAGAAAAGCAAGTGTAAGTATCTGGCAAACAGTTGGCAGCAGGAGGATGGTCAGGGTTAGGGAGGCTGATGGGAGATCAAGGACGGGGTGATGGCGAGACTATGATGATTGGGGTTCAGGAGAGATTTGTTTAAGATGCTTAAGACAAAACCAGAAAATCTCTACCCGATGGTTTGTGATACCTGTAATCCGTAGTGAATATCCTTGGTGTCAAAGGAATAGTTGACCAGGGACGCCTCTCCCTTCAGTGTTATTTCGTAGGTGGGTCCTTCTTCCACTTCACACAGAGCTTTAGCTTGTGCAATGATGTTAGCGTGTCCATAGAAGGTGAACGATATTTGGTGGCTACTGTGTGGCTGCAACACTCCAAACAGGGGCAAAATATCAAACAACTGCAGAGAAAGTCATTCTGTAAGAGAGCAGCTGTTGGGATGAATGCCTGCCAAGGATAAGTGAAAGTTATGTCAATTTACACATTAATTCCAGTCTTTAACTCATTTGATAGAAGGTAGCCCAGCACCCTGAAAACACATAATGGTAATGATGGTAACAGTGCTCTGGTGAGATTTAAGTTTCTAATGTGGGGCAGCTGCTCAGTTAGAAAGTAAAGTTAGTGTCTGATAAGGTCAGGAATCACACGGTGTCACTTACTTCTTCTATCCCAATGGAAAGCATCTCATTCTGTTCACAGGTCTGTAGGGATTCCTGATCCTCCACCTGGCTCTGGCTTGAGTATATTCTTTCTATTTCAGTAGAGCTAATTTTTATTTCCTAGAAATTAAAGATGTGAGGAAAAGCTGGCAAGCATTCAAAATGGATCATCAATTGACAGAAAAATAAAGTATGTTGTATATGATTATAAAAATAGTACATTTTTTCCCAGGAAGATAATTGAGCAAGTGACTATAATGTACATACGAGGATGTTTACTGCAGCATTATTTATAACAGCAAAACTTTGGAAGCCAACTCAGTGCCCATCAATAGGGGGTCACTTTAAATGAAGTGTGTGTGGTACACCTATCCATGAAGGATAATGCATGTATATTTATGGATAGGGATGATGTGCACAACATATTATTGAGTGAAAAGCAGTTCTATTCATGTAAAATTACATATGCCTCATGTGTCTGAAGGTGTGTGTGTGTAAATTCCTTCAGAGATTTGCATTGGCAAATAGAAATATCTGGGAGGTTGTTTGCTAAGAATTTCGTAGCATTTTTCTCAGTGGGGTAGAAAGAAGATGGGAATTTTGAGGATGTTTGCTTTAATTTTTCTGTATTCTTGAGTTTATATGTACACACATGTACATATATATGTACATATATATTTTATTTTTGAGACAAGATGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCAGAGCTCACTGCAGCCTTGAATGCCTGGGCTCAAGTGACCTTCCCACCTCAGCCTCCCTAAAGTAGCCAGGACTGCAGGCGTGCACCACCACACCCTGGAGTCTCGTTATGTTGCCCAGGCTGGTCTTGAACTCGTGGCCTCAAGCCATCCTCCTGCCTTGGCTCCCAAAGTACTGGGGTTACAGGCGTGAACCACTGTTTCTGGCCTATTCTTGAGTTTTCTATGACACGCATCTTTGAAAACAGAAAAAGAAGAATTAATATTTAAAAGACAAATATTTTATATACTCACACATACTCATTCTAAAAAATTTTTAAAATATAGAAAGCTCCAAGGAAAGAAATAAAAGTCCATCTCAGGTTATACTGTAGATAAATATTATTATATATATGTGTGTATATATAGTGTATTATGTGTGCATACATATTTGTATTCTGATTTTTCAGTTGACCTAATATGAGTGCCATCTTCCCATATGACTGAATATTCTTCACAAACATCACTTAAAGTATTTTAGAAAGTTGATTGTACATGATACAAATTTAAAATATTCAAAAGGATATATGGTAAAAAGATAAAAAAAGACTTCTATCCCTACAGTTCTCCGGTTCTCCCCTCCTGAGGTACCCACTGTCCAGTTTCCTATATGTTGAATTTAGTTATTCCTCTTAATTCAGCTGATATTTACTGGGGACTTACTAAGAACCAGTTCTATATCCTGAGGATATGACGATGAACAAAACAGAAAAAAAATTCCTGCCCTCATGAAGATTAAATTCCAGAGATATTCCACGCACAAGCAAAGATATCTATGTAACTGTTTGAGAGATAACACAGTAGCTAAGAGCAAGCAAGATGGTCGAGTCTTCCAGCTCCACTGCTTGATGGACGTGTCCCTGCATTGGTAAAATGGGGAAAGATAGTGGTATCCACCTCACAGAGGTGTTGGGAAAAGTAAAAGAGTTAATGTAAAAAATTGCTTAGCTGGGGGCGATGTCTCATGGCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATTGCCTG
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Task1_train_22882
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This is a variant in TAT, TAT-AS1 (tyrosine aminotransferase| TAT antisense RNA 1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Tyrosinemia type II
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AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATTACAGCAAAAGTAATAATGATTATATAACAATGACAAGTGAAGATATTTCTGGCCCTTACACAGTAGTATTTCTGGAAGGTCTCTGATTCCTGCTTGCTCTAGTACAGGCGTGCTCTCACTTTAAGAAAGCCTGATGCCGCTGGGCGAGGTGGCTCACGCCTGTAATCCCAGTACTTTAGGAGACCCAGGCGGGCAGATTGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCTCACGCCTGTAGTCCCAACTGCTTGGGAGGTTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCATCTCAAAATAAAGAAAGAAAGAAACAAAGAAAAGAAAAGCTTATATTGAACTTCTCTAAAAAAAGAAAAAAAAGAAAGCCTGATGCACACAAATCTAAATTTGGCAAGTCGATCAATTAAAGGATATTTATTTGCATCACAAAATAATTCTTTACTCCCCCCAAAAATCAATAAAAAGTTCAAATAGCAACTTTTCCTAATGTGTTTAAAATGTAATCACCAAATACATGTGTCCCCAACTTCTTTCCAGTTATAATTCTATTGTGTAAAGTGAGGTATACCTGAAGTGAGGCAATAAGAGAGTTGAGCTTCAGACCTGCCTGGAGAGAGCGTGTTCTTTCTTAGAGTCTGAGGAAATGGTTGGGGGCACAAATTCTCTCAATCTTTTTCTTTTCCCTCATCCTGAGCTCTTATTTTCTTGTCTCAACTGCTTTCTGGTAAACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCC
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AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATTACAGCAAAAGTAATAATGATTATATAACAATGACAAGTGAAGATATTTCTGGCCCTTACACAGTAGTATTTCTGGAAGGTCTCTGATTCCTGCTTGCTCTAGTACAGGCGTGCTCTCACTTTAAGAAAGCCTGATGCCGCTGGGCGAGGTGGCTCACGCCTGTAATCCCAGTACTTTAGGAGACCCAGGCGGGCAGATTGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCTCACGCCTGTAGTCCCAACTGCTTGGGAGGTTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCATCTCAAAATAAAGAAAGAAAGAAACAAAGAAAAGAAAAGCTTATATTGAACTTCTCTAAAAAAAGAAAAAAAAGAAAGCCTGATGCACACAAATCTAAATTTGGCAAGTCGATCAATTAAAGGATATTTATTTGCATCACAAAATAATTCTTTACTCCCCCCAAAAATCAATAAAAAGTTCAAATAGCAACTTTTCCTAATGTGTTTAAAATGTAATCACCAAATACATGTGTCCCCAACTTCTTTCCAGTTATAATTCTATTGTGTAAAGTGAGGTATACCTGAAGTGAGGCAATAAGAGAGTTGAGCTTCAGACCTGCCTGGAGAGAGCGTGTTCTTTCTTAGAGTCTGAGGAAATGGTTGGGGGCACAAATTCTCTCAATCTTTTTCTTTTCCCTCATCCTGAGCTCTTATTTTCTTGTCTCAACTGCTTTCTGGTAAACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTAGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCC
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Task1_train_22883
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This sequence variant lies in TAT-AS1, TAT, TAT, TAT-AS1 (TAT antisense RNA 1| tyrosine aminotransferase| tyrosine aminotransferase| TAT antisense RNA 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Tyrosinemia type II
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ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCCACAGGACAGGATGGGGACATCGGTGCTGAGGGTGGCCAGTGGTTCATATTTGCAATCCGAAAACACCTGAGAAGAGGCACTTGTTATGGTTGTTTTCTTGTCTACTTCTCACTGCAATCCCAGATCCCGTGGCTCCCACCCATTTCCTTCTATCACTAGGGACAGGTCCTTGGATTAATGGGATCATCCCTACCCTGAAGCATGACTGGGATTGCAAGAGGCTTTGAAGGGGACTACACAAAGACATTTAATTTGGTGTCTGGACTGGATTAAAGGAAGCCTAAAATGAGGAAACTGACCCTAGCCCAGTAATATTTACAACTCCATGAAGCTGGCTCTATGAAATTACTGTCTATAGGAGTTACAGATTTAAAATATAAGTCCACAATCCCTTATCTGAAATTCCTGGGGCCAGGTATTTTCATAATGCAAAATGGTTTGGGCTTCAGAAAGGCCATGTAGCACACTTACCATACGTTATGTAACACTCCCAGAGCTGTCTAGGATAGTACCCCTAATCAAGAATATTAACATTTCTGCCATTTTCCCCACACTCTTAACAAATATATAGATCCACAAGTGGGAAAAATAAAAATCTACAAATATCAGGTCAAATCAGGTTTTGTAACCAAATGAATTCCAGGAATCTTTGGATTTCCAAAGTTCTTTGGGTTTCAGAAAACTGGCTAAGGAGTTGTGGGTCTATATATTTGTAAAAAGTGCAGGGATGCTGATTTGCTGTAATGAAACGATTAGGAGTTGTTTCTGATTATTCCACTTCTAAAGTTCCCATAAAATAATTTGAGATTACTGTAGTGATATATCCTGATCAAGACTCACCATGTCTCCATAGATCTCATCAGCTAAGATGGGGACACACTGCCGTGCAGCCACTGAAAATAAAACATGCTGAAATCAGTTTTAATGTGAATTGCTTTATCATGTAATAGTCACATAATATCATGTAATTTCCCTATCCCGTAATATTAAGAAGTTACAATTCTTAAAGAGAAAGACAAAAAGCACAAGCAAAGTGTGATTTGCATTTCATGTTTGTGTGTTTTGTCTTCCTATTTAAGAACTGTAAATTCTTAACATACTCTTCCAGAGTGCAGAGCCTGAATTCACCATTTAAGTAACTAGATATTTCAGACCCTATCTTCAACGTGATGGGAG
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ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTACAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCCACAGGACAGGATGGGGACATCGGTGCTGAGGGTGGCCAGTGGTTCATATTTGCAATCCGAAAACACCTGAGAAGAGGCACTTGTTATGGTTGTTTTCTTGTCTACTTCTCACTGCAATCCCAGATCCCGTGGCTCCCACCCATTTCCTTCTATCACTAGGGACAGGTCCTTGGATTAATGGGATCATCCCTACCCTGAAGCATGACTGGGATTGCAAGAGGCTTTGAAGGGGACTACACAAAGACATTTAATTTGGTGTCTGGACTGGATTAAAGGAAGCCTAAAATGAGGAAACTGACCCTAGCCCAGTAATATTTACAACTCCATGAAGCTGGCTCTATGAAATTACTGTCTATAGGAGTTACAGATTTAAAATATAAGTCCACAATCCCTTATCTGAAATTCCTGGGGCCAGGTATTTTCATAATGCAAAATGGTTTGGGCTTCAGAAAGGCCATGTAGCACACTTACCATACGTTATGTAACACTCCCAGAGCTGTCTAGGATAGTACCCCTAATCAAGAATATTAACATTTCTGCCATTTTCCCCACACTCTTAACAAATATATAGATCCACAAGTGGGAAAAATAAAAATCTACAAATATCAGGTCAAATCAGGTTTTGTAACCAAATGAATTCCAGGAATCTTTGGATTTCCAAAGTTCTTTGGGTTTCAGAAAACTGGCTAAGGAGTTGTGGGTCTATATATTTGTAAAAAGTGCAGGGATGCTGATTTGCTGTAATGAAACGATTAGGAGTTGTTTCTGATTATTCCACTTCTAAAGTTCCCATAAAATAATTTGAGATTACTGTAGTGATATATCCTGATCAAGACTCACCATGTCTCCATAGATCTCATCAGCTAAGATGGGGACACACTGCCGTGCAGCCACTGAAAATAAAACATGCTGAAATCAGTTTTAATGTGAATTGCTTTATCATGTAATAGTCACATAATATCATGTAATTTCCCTATCCCGTAATATTAAGAAGTTACAATTCTTAAAGAGAAAGACAAAAAGCACAAGCAAAGTGTGATTTGCATTTCATGTTTGTGTGTTTTGTCTTCCTATTTAAGAACTGTAAATTCTTAACATACTCTTCCAGAGTGCAGAGCCTGAATTCACCATTTAAGTAACTAGATATTTCAGACCCTATCTTCAACGTGATGGGAG
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Task1_train_22884
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A mutation found in AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; not provided
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TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGGTTCCCTGGATAAGTGAACATATCTGGAAACATTTCAACTTCAAATCTAGCAGCAAATGCCATTTCAAAGAGTGATAAAAAGGTATACAGTCAACTGACTTCAGTGGCTCATGCCTATAATCCCAGTACTTTGGGACGCCAAGGAGGAAGGAGTGCTTGAGGCCAGGAGTTCCACACAAACCTGGGTAACATAGCAAGACCCCATCTCTACAAAATAAAAATTAAAAAATTAGTGGCACATGATGATTTGCAGCTACAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATGGCTTAAGCCCAGAAGTCCAGGCTGCAGTAAGCTATGACTGGGCCACTGCCCTCCAGCCTGGGTGACAGAGCAAGACTCCGTTTCTAAAATTAAAGAAAAAAAAAAAAGAGGGTACATAGTCAAACTCAGATGTTTCCCATAAGATTGCAATAAGAGTTGCTAAGCTGAGAAATGAGATTTGTTTTCAGTTTCAGAGAAAATGAATCATTCAGTCAGGGCAGGAGACGATAAAGAAGAAAGAAGAAAAGGGACTGTTTTCAGACCAAGACAACATTTGGACTAAAAACTTGTTTCCTTAAATTCAGAGTGGAAAGAAGAGAAAGAATAGCTGTACTACTAAAATCATAAGGTACTTCCTCAAAATTCTGCATAGAGCTGCAATTCAGGTGCTGTAACTGTTCTATTGCCTTTATTAAAACAGCATCACAGGCCAGGTGTGGTGGCTGATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGAATCGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGACAACATAGCGAAACCCCATCTCTACAAAAAGAAAAAAACAAACCCAGAAATTAGCAGGGTGTGGTGGCGTAAGCCTATGGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGGATCCCCTGAACCTGGGAGGTCAAGGTTGCACTGAGCCGAGACTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAAACCCAAAACAAAAAAAACCAGCATCATAGATGAGAGGTTAAAGAACAGATAAAGGAGAAGATTTCATAAAAGTGTGAAATTTTTTTGGTCTCAGCATATTTAAATGCTGGCTATAATAGCCTTCTCCAAGCTAATTTATAATTGAGGGTTTGAAATAAATGTTATGTGTTTTAAACATATTTAAAGTAGTTTCCCCATTTTTTTTTTTTTGTTTTGTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAACCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCGCGTGCCACCAGGCCCAACAAATTTTTGTATTTTTAGTGGCGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCACCTGCCTTGGCCTCCCAAACTGCTGAGACTGCAGGCGTGTGCCACCGCGCCCAGCCCCCTCCCCATGTTTTAAAGACACTTCCAAAAGTTCCAAGCAGACTTTACCAATAAAGGTAAAAATTAAATCTTACTTTTCTGCAGCAAGAAAGATTCCAGATGCACAGTCTGCTTTAAATTCTGGCTCACACGAATCCAGAAAATAAAGTAATTCTTTCATCATGCCTCGGATATTATTCCCATTTACCAGGGCAAAACTCAATTCCATTGCACGCCTTGCAGAAGGGAAAAATTAAAAACAGTTAAGAAATTTATAGTGGAAATGAAACAAAGACCCAGGTATGCACTCTGTGAACACCAAGTACTGCCAGATGTGCTGACGTCCTTGCACGATCTTGTGATCCCAATCTTTGCACACGAAATAACCAAGGAGATGTATTCTTACATAATCAAAGTTAGTTTTGATATTTTGAATCTTCATGCAATATTCTTCTTCAAAAGTCCCTACGAGATATACCACTAATGTCCAAACATGCAGCTTGGGTTCAACAGGCTGTTCTACAAAGGTGGAAGTTAGAATACCTGAGAGTCTCAAAAAGAGGGGCAACAAATAAATGTATTACCCAATAATAATACCTATCTGCCTCATTCCTTAAAAATGTGACATGTTAAGTCACCATATTCTACTTTTATTACACCCCACTCTGTCCAAACATGATGTAATATAGTTTATGTCAAAAGGTATGCAGAAAATTCAAATTAAAAACAAATTCAAGGCCGAGCGTGGTGGCTCACACCTGTTTTCTCACCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATGGTGAAAGCACTTCTGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGGTACTAGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACAGAGATTGCAGTGAAGTGAGGCACTCCAGCCTCGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCAAAGGGAAAATGAGGGCCATGAGAAGGAAAAAAAAAATGGCATGTCCTAGGAGGACAAATAAGAGTTTCTATAACTGCCTATTCAAAGTTGGCAATGAAGTTAAAAATAGGAATGTTTAACATGTAAAAGCTGTAAGGTTGCTATATGCATCTTTCCATACTTGGTCAATAATATCAAACACTATATGTACACTGACTTTCAAAAGTAACAATTTAGGCTGGGCACAAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTAGCCAATACGGCAAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGGTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACTCAGGAGACGGAAGTTGCAGTGAGCCGAGGTCGCACCACCACACTCCAGCCTGAGCGACACAAGACTCCGTCTCCAAAAAAAAAAAAAAATTAACGAGTGGGGATACTTTCATCTTAGCTAACATGTAAGTAGCAAAAAATTCAATCCTTAGATATAATAACTTTTATAGGGTGCTTATGTAATTTACATATATTAATTCAATTTATCCTGCATAACCCTATGAAGTGGTTGCCCTTCTATCTGTATTTTACTTATGAGGCAATTGAGGCACTGAAAGTTTAAGTAATTTGACCCAGTCTATTAAAGGCAGAGTCAGAAAATGAAATGAGGCAGTCTGGCTCCAGAGTCTAAGCTCTTACTGTTATATATCCTTTCAAAGAGACACAAGTTTCACTTTTTTTGAAATTCACAGCCCAGTAATGAGCTAGAGAGAAACAACACAAAAAGAGTCAGAAGGCTAATATCTATTCCCAGGACTGCCCCTTACAAGGATTAAGGTTTAGGTTAAGTCATTTGATCCCCATGGGACTGAATTGTAACTAATCTGTTAATTAGGGATAGAAGTAGTTGCTTAGGCTCTCTCATTGGCCTGCTCTGAGAACCCACTGAGAGGGTACTTATAAAATCTTTTGCAAAGCACTATATAAAAGTTGGTGTTATTAAGTTTAGGTCTTATCTTTAGATTGCTCAAGCACTTAGCACCTTTTATTTGTACCTGTTCTGTGCAAATCAAAGGAACTCACCATCAATAAATGTTTGTTAACTGAATGGTTTCAGAGATCACTTTAAATATACTTTGTTCTAGATTTGAACATACAACCAAAA
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TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGGTTCCCTGGATAAGTGAACATATCTGGAAACATTTCAACTTCAAATCTAGCAGCAAATGCCATTTCAAAGAGTGATAAAAAGGTATACAGTCAACTGACTTCAGTGGCTCATGCCTATAATCCCAGTACTTTGGGACGCCAAGGAGGAAGGAGTGCTTGAGGCCAGGAGTTCCACACAAACCTGGGTAACATAGCAAGACCCCATCTCTACAAAATAAAAATTAAAAAATTAGTGGCACATGATGATTTGCAGCTACAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATGGCTTAAGCCCAGAAGTCCAGGCTGCAGTAAGCTATGACTGGGCCACTGCCCTCCAGCCTGGGTGACAGAGCAAGACTCCGTTTCTAAAATTAAAGAAAAAAAAAAAAGAGGGTACATAGTCAAACTCAGATGTTTCCCATAAGATTGCAATAAGAGTTGCTAAGCTGAGAAATGAGATTTGTTTTCAGTTTCAGAGAAAATGAATCATTCAGTCAGGGCAGGAGACGATAAAGAAGAAAGAAGAAAAGGGACTGTTTTCAGACCAAGACAACATTTGGACTAAAAACTTGTTTCCTTAAATTCAGAGTGGAAAGAAGAGAAAGAATAGCTGTACTACTAAAATCATAAGGTACTTCCTCAAAATTCTGCATAGAGCTGCAATTCAGGTGCTGTAACTGTTCTATTGCCTTTATTAAAACAGCATCACAGGCCAGGTGTGGTGGCTGATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGAATCGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGACAACATAGCGAAACCCCATCTCTACAAAAAGAAAAAAACAAACCCAGAAATTAGCAGGGTGTGGTGGCGTAAGCCTATGGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGGATCCCCTGAACCTGGGAGGTCAAGGTTGCACTGAGCCGAGACTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAAACCCAAAACAAAAAAAACCAGCATCATAGATGAGAGGTTAAAGAACAGATAAAGGAGAAGATTTCATAAAAGTGTGAAATTTTTTTGGTCTCAGCATATTTAAATGCTGGCTATAATAGCCTTCTCCAAGCTAATTTATAATTGAGGGTTTGAAATAAATGTTATGTGTTTTAAACATATTTAAAGTAGTTTCCCCATTTTTTTTTTTTTGTTTTGTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAACCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCGCGTGCCACCAGGCCCAACAAATTTTTGTATTTTTAGTGGCGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCACCTGCCTTGGCCTCCCAAACTGCTGAGACTGCAGGCGTGTGCCACCGCGCCCAGCCCCCTCCCCATGTTTTAAAGACACTTCCAAAAGTTCCAAGCAGACTTTACCAATAAAGGTAAAAATTAAATCTTACTTTTCTGCAGCAAGAAAGATTCCAGATGCACAGTCTGCTTTAAATTCTGGCTCACACGAATCCAGAAAATAAAGTAATTCTTTCATCATGCCTCGGATATTATTCCCATTTACCAGGGCAAAACTCAATTCCACTGCACGCCTTGCAGAAGGGAAAAATTAAAAACAGTTAAGAAATTTATAGTGGAAATGAAACAAAGACCCAGGTATGCACTCTGTGAACACCAAGTACTGCCAGATGTGCTGACGTCCTTGCACGATCTTGTGATCCCAATCTTTGCACACGAAATAACCAAGGAGATGTATTCTTACATAATCAAAGTTAGTTTTGATATTTTGAATCTTCATGCAATATTCTTCTTCAAAAGTCCCTACGAGATATACCACTAATGTCCAAACATGCAGCTTGGGTTCAACAGGCTGTTCTACAAAGGTGGAAGTTAGAATACCTGAGAGTCTCAAAAAGAGGGGCAACAAATAAATGTATTACCCAATAATAATACCTATCTGCCTCATTCCTTAAAAATGTGACATGTTAAGTCACCATATTCTACTTTTATTACACCCCACTCTGTCCAAACATGATGTAATATAGTTTATGTCAAAAGGTATGCAGAAAATTCAAATTAAAAACAAATTCAAGGCCGAGCGTGGTGGCTCACACCTGTTTTCTCACCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATGGTGAAAGCACTTCTGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGGTACTAGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACAGAGATTGCAGTGAAGTGAGGCACTCCAGCCTCGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCAAAGGGAAAATGAGGGCCATGAGAAGGAAAAAAAAAATGGCATGTCCTAGGAGGACAAATAAGAGTTTCTATAACTGCCTATTCAAAGTTGGCAATGAAGTTAAAAATAGGAATGTTTAACATGTAAAAGCTGTAAGGTTGCTATATGCATCTTTCCATACTTGGTCAATAATATCAAACACTATATGTACACTGACTTTCAAAAGTAACAATTTAGGCTGGGCACAAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTAGCCAATACGGCAAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGGTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACTCAGGAGACGGAAGTTGCAGTGAGCCGAGGTCGCACCACCACACTCCAGCCTGAGCGACACAAGACTCCGTCTCCAAAAAAAAAAAAAAATTAACGAGTGGGGATACTTTCATCTTAGCTAACATGTAAGTAGCAAAAAATTCAATCCTTAGATATAATAACTTTTATAGGGTGCTTATGTAATTTACATATATTAATTCAATTTATCCTGCATAACCCTATGAAGTGGTTGCCCTTCTATCTGTATTTTACTTATGAGGCAATTGAGGCACTGAAAGTTTAAGTAATTTGACCCAGTCTATTAAAGGCAGAGTCAGAAAATGAAATGAGGCAGTCTGGCTCCAGAGTCTAAGCTCTTACTGTTATATATCCTTTCAAAGAGACACAAGTTTCACTTTTTTTGAAATTCACAGCCCAGTAATGAGCTAGAGAGAAACAACACAAAAAGAGTCAGAAGGCTAATATCTATTCCCAGGACTGCCCCTTACAAGGATTAAGGTTTAGGTTAAGTCATTTGATCCCCATGGGACTGAATTGTAACTAATCTGTTAATTAGGGATAGAAGTAGTTGCTTAGGCTCTCTCATTGGCCTGCTCTGAGAACCCACTGAGAGGGTACTTATAAAATCTTTTGCAAAGCACTATATAAAAGTTGGTGTTATTAAGTTTAGGTCTTATCTTTAGATTGCTCAAGCACTTAGCACCTTTTATTTGTACCTGTTCTGTGCAAATCAAAGGAACTCACCATCAATAAATGTTTGTTAACTGAATGGTTTCAGAGATCACTTTAAATATACTTTGTTCTAGATTTGAACATACAACCAAAA
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Task1_train_22885
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Gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Usmani-Riazuddin syndrome, autosomal recessive
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CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACAAGGCTATAGGCTAATAGTTCTAATATTAATAAATGATAGAATGAACAAATTCATGAAGGAGAAGGGATAACTCCTCTTTATAGAAGAATTCCAATTAATGAGAAAAAAATGAGGGAAATGAAAAATTGTCATTAGAATACATCTTAATAATTGTTGTGGGCCAGATCCTCTGGTGGATACTAAAACTGATAGGTAAAAGTCTGAGAATAGGATATTTACATAGTCTCAAAATATCTGCCAAAATATTTTTAATTACAAAAGAAAAAATAATGACTTTACAGTGGACAGACCCAGCAGACACCATCTCAACCAAATGATCAAGGTTAACGTCACCAATGATAAGACAAATATATCTACTATATTGCTACACCTGAGATCTCCCAAAGTTTATTATAATCAATGTTAAGCCTTCAGTGGGAAGGAATATTTCAGATACCAAAAATCCAGCATTCCACATTTTGCATCATTCTTTCTTAAAGTCGAGTTCCAAATGGAATACAATTCTGAAGTACTGAAGTCCAAGTCAACCATTCTAAGTGAAACATTTAGGGGGGGAAGAAAAGATTCAAAAAGACTTACTCGCAATCCACTCTCTGACTTAATATCCATGATAGTCAAAACCGTTTCATAAAGAATAGCATTTCCTACATTTTTACTAGTCTCAGTATTAGTGGCAACCTGAAAAGACATATCGAGGGCAGTACATAAGTGATAAAAACAATGCTCCCAAAACATATTCACAGGTAACAAGAGGCATTTTGTGATTACAGCTATGAATGAGGAAACACAAATAAAAACTGCTCCATATAACCATAATCATTCTACTCCCAGCGAAACTAAAATAAATATATATTTAATATGTTTGGTCTACTCACCTGTGCTAATATATCATTCATAGCTTCACTTGAATCATCATCATTTCGTCCTAAAATTCTTAATAACCGCAAAATTCGTACCTAACGTGCAAAAGATGAGAGGTGTCAACAAATTATGTCTCACACAAAGAAATCTCACTTGGTATGAAATTCAAATAACTAAATGAAGTCTTAGAAATTCATTTGGAACCATTTATTCATATCAGAAATAGTCAAAAATCAAACAGAAGAATTGAAAACATTTTCTTTATTTAGAGAAGCTATATATGCTTCTACATCTAATAAAGTTATTATAAAACAACCCACACTTCAGTACTCCACAGCTAAAGGATACTACCAGATACTACCACCTGCAGAGCTATATTAAATAATTCAAATAATAAATGATTTTGACTATTAAAACTGTAATTTGAAGTGGGGCACAGTGGCTCTTGCCTGTAATCCCAGTACTTTGAGAGGCTGAGGGGGGCGGGCTACTTGAGTCCAGGAGTTTGAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTACAAAATATACAAAATGAGCCGGGCATGGTGGCATGCACCTGAAATCCCAGCTACTTGGGAAGATCACTTGACCCTGGGAGGTCGAGGCTGCAGTGAGGCAAGATTGTGCCACTGCACTCCAGCCTAAGTGACAGAGCAAGACCTGTAATTGTATCCTCTTAATCTAATATAGAATTGTGTCACTATTCATTAATATAATTAATCAATTAACTACCAAATTTCTACTCAACACAAACTTAAGAGGAAGGAAATTGTCTACTTAAAGATATTAAATTCATATAACATTTATTTAAAACGTTCTTTCAACCTCACCTGCAAAAAGGGGTCACTGATACCAGAAACATCATGTTCTGGTGAATATCCGGACATGATGAGGTTCTTTAAAATACGAACTAATTGGGGCACAAGCTGCAGAGAAGAAAGATGCATCAAAAAACAGTGAATATTGAAGAATGTCTCATGAATAAGCAGGTCCTTTGGTTTAGAAAAAGGGTGTAAGGGTCCCAGTCCAAGCAAATTCTACTGATTTAATATACTAGTGTATTGTAGATGTTTGATAAACTTAGGAGTAACTTAGGGCAATATTCAAGAAGTAGTATGTATTTTATCTGGATAAAACCAAACCAGACTTTTTTATGCAAGAGTTATATGTAAAGATATTACAAATAATATTGGGTCAGAAAGCCTATGGGAACCAGGTAAAACAGATGCCTATGGGGCATACCGCATTTCTAGTTCTGTAGAACTTGAAAAGCCTAGGTGGCAAAAACATGTTCAGTTTTCACCCATTCAAACATTTGCATGTAACATGTCATCATGCCAAAATACAACTAGTGATCTTATTAAAATTATAGCTTTAAAACATACAACCTCAAATAGAGAAAAAAATCTCTTCTCTTAAGATAGAAGAGTTATACCCTTTTCCAACAAACAACAGGGAATACCAAAGCTGACAATAGTAATACGGTAATCAAATGGAAGACACATGAAAAAATTACATCTTTCATCTTAAGAGACATCAAGGCCATGAATAATTTCCTCTTCCTATTCTTAACTCCTATGATACAATTTTTTTAAATTTCAGGACTTATTTATATATATGGCTTTATGGCCTGTTTTCTTGTCTTTTCAATGAGACTATACATTCCTTATAATCAGGAATTTCCTTCCTATCCTTCCTTTACTTTATCCATTAAGAGTCCTAACACATAGTAAAGGCAATTTTACTGCCAAGCCGAAGATGTTTTAAATATTGGCACTCATTTCATTTCTGTTGATCAATTACTTGATATTAAAACAAAAGGTTTGCCACAATAGGAACTTTTTATGTTTCCAACTAAAAACTCAATTTTTAGCTATATAAACAACTCTAATGACCAAAAATTAAGTTAAATAGTGTGCAAAGTGAATTGCATTCCATCTCTTTTGCAGGCAATTTTAGCTACAACTCTGCTGCAACTCAGTTATTTTTTCTCACTATATTTAGACTCTGTCCCTTCCCTACTCCCCAAGCCTAAAAGGGGATCAAGATTGAAATGAAAAGCCAAGCTATATCCAAGGCATGCACTCAAAGCATTCAAAACATTAAGGCCACTTATAAACACAAGAAAACACAGTATGTAAGAATTTAAATAAGTTGAGCCATAACAGTTTGGAATTAAGTAACTTATAAGTCACCTAAACAAAAGTCTACTTTGGACAACTCCAAATAAGACAAATCTAAGCCATGGAGATCTGTAAATTCATTAAATCTGTCAACTATGGGCAAAGTTATATTAGAGATAATAATATACCTTTTAAAACCACTTTAAATCAATATTTTTGTAATAAAATGAAGACCAAGTAGTTACCAACCTTATCTTACATACTTCCCAATGGTCTGTTTTTTTTGTACTAGATATAACCCTAGTTATTTTTTATCTGGTTTATTTCTTGGAAAAGTCATTTTTCCTTGGGCTACTAAATTCAGAAATTGTTTTATCCACTGCCAAAAAGGCCAGCACATCACATAACATTACCCTGGGACACAGAGCACAAATGACTAAATGTTCAGCATACAATTCTTGGAACCCAGTTTCATTTTTCAGACAAAAATGCAAGTTATTAAAACTGATGACAAGACAAACAAAATAAGATGACACAGGGAAAGGCTGCAGCCATGAAAATCAGTTGGTGCCCACTACTCTACCTCAAAATCCTTTTAATATTCCAAAACTTCTATGTAAGATTAAGTACAGGTAAGAGAGAAATAAAATCTCTAAGTGTGAACTGAAAGCTCAGCAGTACATACGGAGCTTTTTAAAGTATGAGGTTACCCACATGCGGTTCTAAAATATCTACTTCAAAAAGCAGCAGCATTTTGTGTCAAAG
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CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACAAGGCTATAGGCTAATAGTTCTAATATTAATAAATGATAGAATGAACAAATTCATGAAGGAGAAGGGATAACTCCTCTTTATAGAAGAATTCCAATTAATGAGAAAAAAATGAGGGAAATGAAAAATTGTCATTAGAATACATCTTAATAATTGTTGTGGGCCAGATCCTCTGGTGGATACTAAAACTGATAGGTAAAAGTCTGAGAATAGGATATTTACATAGTCTCAAAATATCTGCCAAAATATTTTTAATTACAAAAGAAAAAATAATGACTTTACAGTGGACAGACCCAGCAGACACCATCTCAACCAAATGATCAAGGTTAACGTCACCAATGATAAGACAAATATATCTACTATATTGCTACACCTGAGATCTCCCAAAGTTTATTATAATCAATGTTAAGCCTTCAGTGGGAAGGAATATTTCAGATACCAAAAATCCAGCATTCCACATTTTGCATCATTCTTTCTTAAAGTCGAGTTCCAAATGGAATACAATTCTGAAGTACTGAAGTCCAAGTCAACCATTCTAAGTGAAACATTTAGGGGGGGAAGAAAAGATTCAAAAAGACTTACTCGCAATCCACTCTCTGACTTAATATCCATGATAGTCAAAACCGTTTCATAAAGAATAGCATTTCCTACATTTTTACTAGTCTCAGTATTAGTGGCAACCTGAAAAGACATATCGAGGGCAGTACATAAGTGATAAAAACAATGCTCCCAAAACATATTCACAGGTAACAAGAGGCATTTTGTGATTACAGCTATGAATGAGGAAACACAAATAAAAACTGCTCCATATAACCATAATCATTCTACTCCCAGCGAAACTAAAATAAATATATATTTAATATGTTTGGTCTACTCACCTGTGCTAATATATCATTCATAGCTTCACTTGAATCATCATCATTTCGTCCTAAAATTCTTAATAACCGCAAAATTCGTACCTAACGTGCAAAAGATGAGAGGTGTCAACAAATTATGTCTCACACAAAGAAATCTCACTTGGTATGAAATTCAAATAACTAAATGAAGTCTTAGAAATTCATTTGGAACCATTTATTCATATCAGAAATAGTCAAAAATCAAACAGAAGAATTGAAAACATTTTCTTTATTTAGAGAAGCTATATATGCTTCTACATCTAATAAAGTTATTATAAAACAACCCACACTTCAGTACTCCACAGCTAAAGGATACTACCAGATACTACCACCTGCAGAGCTATATTAAATAATTCAAATAATAAATGATTTTGACTATTAAAACTGTAATTTGAAGTGGGGCACAGTGGCTCTTGCCTGTAATCCCAGTACTTTGAGAGGCTGAGGGGGGCGGGCTACTTGAGTCCAGGAGTTTGAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTACAAAATATACAAAATGAGCCGGGCATGGTGGCATGCACCTGAAATCCCAGCTACTTGGGAAGATCACTTGACCCTGGGAGGTCGAGGCTGCAGTGAGGCAAGATTGTGCCACTGCACTCCAGCCTAAGTGACAGAGCAAGACCTGTAATTGTATCCTCTTAATCTAATATAGAATTGTGTCACTATTCATTAATATAATTAATCAATTAACTACCAAATTTCTACTCAACACAAACTTAAGAGGAAGGAAATTGTCTACTTAAAGATATTAAATTCATATAACATTTATTTAAAACGTTCTTTCAACCTCACCTGCAAAAAGTGGTCACTGATACCAGAAACATCATGTTCTGGTGAATATCCGGACATGATGAGGTTCTTTAAAATACGAACTAATTGGGGCACAAGCTGCAGAGAAGAAAGATGCATCAAAAAACAGTGAATATTGAAGAATGTCTCATGAATAAGCAGGTCCTTTGGTTTAGAAAAAGGGTGTAAGGGTCCCAGTCCAAGCAAATTCTACTGATTTAATATACTAGTGTATTGTAGATGTTTGATAAACTTAGGAGTAACTTAGGGCAATATTCAAGAAGTAGTATGTATTTTATCTGGATAAAACCAAACCAGACTTTTTTATGCAAGAGTTATATGTAAAGATATTACAAATAATATTGGGTCAGAAAGCCTATGGGAACCAGGTAAAACAGATGCCTATGGGGCATACCGCATTTCTAGTTCTGTAGAACTTGAAAAGCCTAGGTGGCAAAAACATGTTCAGTTTTCACCCATTCAAACATTTGCATGTAACATGTCATCATGCCAAAATACAACTAGTGATCTTATTAAAATTATAGCTTTAAAACATACAACCTCAAATAGAGAAAAAAATCTCTTCTCTTAAGATAGAAGAGTTATACCCTTTTCCAACAAACAACAGGGAATACCAAAGCTGACAATAGTAATACGGTAATCAAATGGAAGACACATGAAAAAATTACATCTTTCATCTTAAGAGACATCAAGGCCATGAATAATTTCCTCTTCCTATTCTTAACTCCTATGATACAATTTTTTTAAATTTCAGGACTTATTTATATATATGGCTTTATGGCCTGTTTTCTTGTCTTTTCAATGAGACTATACATTCCTTATAATCAGGAATTTCCTTCCTATCCTTCCTTTACTTTATCCATTAAGAGTCCTAACACATAGTAAAGGCAATTTTACTGCCAAGCCGAAGATGTTTTAAATATTGGCACTCATTTCATTTCTGTTGATCAATTACTTGATATTAAAACAAAAGGTTTGCCACAATAGGAACTTTTTATGTTTCCAACTAAAAACTCAATTTTTAGCTATATAAACAACTCTAATGACCAAAAATTAAGTTAAATAGTGTGCAAAGTGAATTGCATTCCATCTCTTTTGCAGGCAATTTTAGCTACAACTCTGCTGCAACTCAGTTATTTTTTCTCACTATATTTAGACTCTGTCCCTTCCCTACTCCCCAAGCCTAAAAGGGGATCAAGATTGAAATGAAAAGCCAAGCTATATCCAAGGCATGCACTCAAAGCATTCAAAACATTAAGGCCACTTATAAACACAAGAAAACACAGTATGTAAGAATTTAAATAAGTTGAGCCATAACAGTTTGGAATTAAGTAACTTATAAGTCACCTAAACAAAAGTCTACTTTGGACAACTCCAAATAAGACAAATCTAAGCCATGGAGATCTGTAAATTCATTAAATCTGTCAACTATGGGCAAAGTTATATTAGAGATAATAATATACCTTTTAAAACCACTTTAAATCAATATTTTTGTAATAAAATGAAGACCAAGTAGTTACCAACCTTATCTTACATACTTCCCAATGGTCTGTTTTTTTTGTACTAGATATAACCCTAGTTATTTTTTATCTGGTTTATTTCTTGGAAAAGTCATTTTTCCTTGGGCTACTAAATTCAGAAATTGTTTTATCCACTGCCAAAAAGGCCAGCACATCACATAACATTACCCTGGGACACAGAGCACAAATGACTAAATGTTCAGCATACAATTCTTGGAACCCAGTTTCATTTTTCAGACAAAAATGCAAGTTATTAAAACTGATGACAAGACAAACAAAATAAGATGACACAGGGAAAGGCTGCAGCCATGAAAATCAGTTGGTGCCCACTACTCTACCTCAAAATCCTTTTAATATTCCAAAACTTCTATGTAAGATTAAGTACAGGTAAGAGAGAAATAAAATCTCTAAGTGTGAACTGAAAGCTCAGCAGTACATACGGAGCTTTTTAAAGTATGAGGTTACCCACATGCGGTTCTAAAATATCTACTTCAAAAAGCAGCAGCATTTTGTGTCAAAG
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Task1_train_22886
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A variant found in Chromosome 16 affects AP1G1 (adaptor related protein complex 1 subunit gamma 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant
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AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAA
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AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACTGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAA
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Task1_train_22887
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The gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant
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AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAAC
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AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCAGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAAC
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Task1_train_22888
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A genomic change on Chromosome 16 affects DHODH (dihydroorotate dehydrogenase (quinone)). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Miller syndrome
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ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGA
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ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGTGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGA
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Task1_train_22889
|
This sequence variant lies in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Miller syndrome
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CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
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CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGACCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
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Task1_train_22890
|
This variant lies on Chromosome 16 and affects the gene DHODH (dihydroorotate dehydrogenase (quinone)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Miller syndrome
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CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
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CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGCCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
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Task1_train_22891
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Here is a mutation in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Miller syndrome
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TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTGGGAAGCCCCTCCGGGATTTATCAACTCAAACCATTCGGGAGATGTATGCACTCACCCAAGGCAAGGTTTCCCGTGTTTGTGTCTTCAGATCTGCGTGTGGCTTGGGCTCCTGGGTCGTGATGGGAATCATCATTCCCTAATCTGTCTTGATTGTGGGGGACTCTGGGGCTGAAGCCACATCCTTCTTTATGGTGTCGCCATGTGCTTCTCTGTAGGCCGAGTTCCCATAATTGGGGTTGGTGGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCTGTACACGGCCCTCACCTTCTGGGGGCCACCCGTTGTGGGCAAAGTCAAGCGGGAACTGGAGGCCCTTCTGAAGTGAGTGAGGTCATGTGTGGCTTGAAACAGAAGTTAGGCAGAGGTTCATTTAGATCACTCAAGTCAACGAGATACTGTTGATCTGTTTCTTATTCATTCAAAAAGGAGTTGAGGGGTACACTCTGAAGGGGAGAGAAATTCTGGGTTACTCTTTTGATGAAGGACAAACAATGCCAAGGAGAACTGAGGATTAACCTCCAAGGCAATGGTGTTTCTAAGGTGGAGTTGTCCATTTGCTCAAGGGAGGGGAGCCTGAGGAATCCCATCAGCATTCCCATTAATTAAGCAACACTGGTTCAATGTTGGGAGCTGTCAATACTTAAAAGCAATTTCCTTCCTGCTCTGTTCCTACCTGGGTAGAAATATCCCTAGGTCTCTGGGTGAAGAGTGTAGAGGAAACCAGATGTGCCTGGGCCGGGATGATGCGTTTCTGGGTGAACGTGGGCTTCCTGTAAGAGCAGGGCCTGTTCTCCACTGTTTGCTGAAATTGCTTTGTTTGCTCTTTTTCCAGAGAGCAGGGCTTTGGCGGAGTCACAGATGCCATTGGAGCAGATCATCGGAGGTGAGGACAGCGTCTGACGGGAAGCCTGATCTGGAACCTTCCCAAGGACTCAGGCAAGCCTTTGTGGCTGGATCATGAGAGGAGGGACTCCATCTTGAGCCATGTCCCCCAGCCATGGCATGGCTGCACTGTAAACGCCAATCGGGGGGTCACCAGGATCAACCGCAGGCTTTCTTCAGTCCCTTGGTCAGACCATAAACTGCATTTTTGATTCTTTGTGGATTCAAACCCTAGGATC
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TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGTGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTGGGAAGCCCCTCCGGGATTTATCAACTCAAACCATTCGGGAGATGTATGCACTCACCCAAGGCAAGGTTTCCCGTGTTTGTGTCTTCAGATCTGCGTGTGGCTTGGGCTCCTGGGTCGTGATGGGAATCATCATTCCCTAATCTGTCTTGATTGTGGGGGACTCTGGGGCTGAAGCCACATCCTTCTTTATGGTGTCGCCATGTGCTTCTCTGTAGGCCGAGTTCCCATAATTGGGGTTGGTGGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCTGTACACGGCCCTCACCTTCTGGGGGCCACCCGTTGTGGGCAAAGTCAAGCGGGAACTGGAGGCCCTTCTGAAGTGAGTGAGGTCATGTGTGGCTTGAAACAGAAGTTAGGCAGAGGTTCATTTAGATCACTCAAGTCAACGAGATACTGTTGATCTGTTTCTTATTCATTCAAAAAGGAGTTGAGGGGTACACTCTGAAGGGGAGAGAAATTCTGGGTTACTCTTTTGATGAAGGACAAACAATGCCAAGGAGAACTGAGGATTAACCTCCAAGGCAATGGTGTTTCTAAGGTGGAGTTGTCCATTTGCTCAAGGGAGGGGAGCCTGAGGAATCCCATCAGCATTCCCATTAATTAAGCAACACTGGTTCAATGTTGGGAGCTGTCAATACTTAAAAGCAATTTCCTTCCTGCTCTGTTCCTACCTGGGTAGAAATATCCCTAGGTCTCTGGGTGAAGAGTGTAGAGGAAACCAGATGTGCCTGGGCCGGGATGATGCGTTTCTGGGTGAACGTGGGCTTCCTGTAAGAGCAGGGCCTGTTCTCCACTGTTTGCTGAAATTGCTTTGTTTGCTCTTTTTCCAGAGAGCAGGGCTTTGGCGGAGTCACAGATGCCATTGGAGCAGATCATCGGAGGTGAGGACAGCGTCTGACGGGAAGCCTGATCTGGAACCTTCCCAAGGACTCAGGCAAGCCTTTGTGGCTGGATCATGAGAGGAGGGACTCCATCTTGAGCCATGTCCCCCAGCCATGGCATGGCTGCACTGTAAACGCCAATCGGGGGGTCACCAGGATCAACCGCAGGCTTTCTTCAGTCCCTTGGTCAGACCATAAACTGCATTTTTGATTCTTTGTGGATTCAAACCCTAGGATC
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Task1_train_22892
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This variant affects gene RFWD3 (ring finger and WD repeat domain 3) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
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Pathogenic; Fanconi anemia, complementation group W
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TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAATCAAGTTATCTACAATAGCTTTTTGCTTAAGAGAAAAACAATTCTGTGAGTTGTCTGTTTTAGTAAAATCAGTCTCCTGCCAGACCTCTGCTAGGGGATTTCTCTCTCAAGAATTCTCAGTAAAAGGTTTTTCCCTTCCCCCAGTGAGAACCTCATTAGCCCCTGGGACTGCACATTTTTATAAAGTGAAAGCATGCTATTACAGAAAGGGAAACATGTATCTGAAATTCTGCTGGGAGGCAAACAAAAGCAAGATAACAAAATAGGACCCCCAGGCTTTGTACACCAGTCACAACAAATCACAGTCTTGGAGACAGCCGAGCTGTGGGATGATGAAGAGCCAAAGGGTCTGAAGTGGTACTGGGATGTTTCTCAGCTCAAACAAAACTTAAAAACATGAGTAGACCCACCCACAACTAGCAGAAGTGTGAGCATTTAATGACTAACTCTGACTATACATCTGCCTGACTGTTACAAATGTGTTTAATACAGTTGTTACCTCAGCATCTGTTTTTAGGGCTAGCATAAATTATTTGAAACCCAGATGTACCCTGTCAACTTTGGCCTAGTTAAAACATCCCTTCCCTGAGCAGAGGTTTGAAATATAGCCCACTTGTCCCTCCCCTCCACCCCTACCCCACCCCTAAGGGAGCAGGCCTGTCCTGGATGGCTCCCCCTTCTTCCCATTGGCCCCTGAAGCATGCTGCCCTCTTCTCTGTGGGATCTGTCAAGTAAGCTGATTCCGTTATTTCCTGTGTTTTGTGCACTGCCTCCTTTGTGTCTCACCTGACCAACACACCTGAACCTAACTTGTTTCCTAGTCAGGGCTCTTCTAGAGAGTCACTATCTCAAGGGAAATGAACTAGACACAGTTCAGACAAGAGCCACAAGGGTACCTGCCAGTACAAACAAGTTTCCTGTGAGAGGGACATCTGGTCATGGGTCAGGCAGGCATTAGGCCATCTGCCAGGACAGAGGAGTATCCTGTGAAAGGCAAACTATGAACACCCACAACGAACTCCCTAGTGTTTGGCAGGACAGGGCTAGAGTTTATAGCCACTCTCCTGACAGAGACCTCAAGACCAAATTAGAAAGAAAAAACCTAGAACACTGACCATCAGTACAGTTTACCAGGAATTTAGATTCATGCCGCTTAGCCTAGAAAGAACCTGTGAATGAAGCACAGTCTGCTGTTATGCGTTCCACCTCTGATTCCAGAGGCAGAGATGTTCAGCTGGCTGGGCACACACAGCCACTGTTGTCCATTTCAGTATGCCAGCCGGGCTACTACATGGCTGCCCTAATCTGGGCCTTTCTCTCAGGGGAAGTAAGAGGCAGGCAGAAGATACGAAAGTGATCTCAAGGTGGCTCAATGACCTAGAGCTGGCCCCCTTGTTCCACTACTGTTCTAAACTGTAGGGGCTCCTAAGTGGCTAATTCACTTCCAGGAGTACCTGGCAGAATATGCTCCAGTCCTCACACGTAAGGAGCAGGGAGGCAGGCTCTGTGGGGGAGCTTGGAGCCACCATACTCCCTGTAGTAGCAAGAGCTACAACACACCTCGTTAGCCTGTGAGCGGTACCACAGCCACCCAAAGGGTAGGATCAAACCCTCCTTCCCTTTTCTCTACCACTGTGCTCCCAAATAAGCTATGGGAGACCCCAGCACTACTTACCAGGCCTGTAGGTCACAAGACAGTGCCGGGAGCTGTTCTCTGTCTGAAAGTCTATGCAGCCCCCTGGCTCCAAGGGCAGCACATGAGGCCAATGAGAAAAGTCCATTTTCTGTTCCCAGAATGAAGCATCCTCCAAGGTTCCAGCCAGCACCCCACCATATGGAAATGCAGCTGAGGCAGCTCTGGGCATGTATGACAGGGAGACCAGTGGGCATCTGAAAGGAAAGTAAGGAAACTGTATCTCACACTCCAAAACTCGGACGGCTCCAGACCCCACTACCAGACCTCAAGCACATTCCCACCTCTGCAGAGGAGGTTAAACGCCTTTAGTCACTATCCTCTGATATCTGATAAAAATTATCAACCCTCTCTGTAGAAACAAAAGGACATACATATAATATTCTGCAACTAATTTCAGGTGAGATACCAGATGCTCTAAAAGAAAAGGAAAAAAAGAACTAGGAAATTTAAGGGATACAAGATCACAATTACTATGAAGCTTGACTGATGTGAAGCTTCTGGAAATGGGTTTAGCCACATAAGAAAAGTCAGAAAAGAAACAAAGCTTATATACATAACAAAATAAAGATCCCAAGTTGTAGTTGACAGACCCCACAATTAAAATACAGCTAAAAGCAGCTACATTTTAATTCAGAAACAGGACTGTTTTAGGTTTTCTAAATTTCCTTCTGCAAGCATATGACCAGGACTATGCGCCAAGAATTCTCTCAGAAATATCATCCTTCCGACTGTGTTCCTATCAACTCATTTCTGCTATGAAGTCGTTCGTGCCAAAGTTGCCAAAGTGTCTACTTTGCCTGTTTTATTTTCCCTGTCACAATAAAGGTAATCAAAGTAAACAAAAATAAAAATGAACATTACATACAAATATTCTTTCCTTGCTATTTTAAAACTTGCTGTGTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAAGCCGAGGTGGGAGAATCACTTGAGGTCACCGGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGTCAGGTGTGGTGGCACACGCGTATAGTCCCAGCTACTCGGGAGGTGGAGGATGCAGTGATCCAAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACCATCTTAAAAAAACAAAACAAAACAAAAAAACCACTACCACCAACAAAAAAAAAAAACCTTGCCATATTTTACTGTCTACTCTATTTGGGCCTAGGTTTCAGTAAAGAATTATTACTTTAGTGGTATCTTTATGTTTGGCTCTCCTTGCTCTTTTTAATATATCCAGTTGGAAACATAAATTATCTGTTAAGATACTTCAGATTTTGGCCAGGTCACAGACCCTACTCCCTTTTTGATAACTTTATACCTACAGGGCAGCTCAACACATTCTAAGACAGAGTGGTGCTGGTGGCCATCCATCCTCAGAACTTGGGCTCACTTTATAAACTTCTCAATCTCATAACTGGATTAAATGATAAATAATAATAATATGGTATCTTCAAACAAGTTGGTTTAGCTTTGGATTAGGGAAGTTTTAAATCACTTTTGATTAGGTTACCCTTAACTGATCTCTTCCTATGTGCTAGACATGTGGCTATTTTTTTTTTTCTTGAGATGGCGTCTCACTCTGTTGCCCAGACTGGAGTGCAACGGCGCAATCTCGGCTCACCGCAACCTCCGCCTCCGAGGCTCAATAGATTCTTCTGCCTCGGCCTTCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCATGGCTAACATTTTTTTGTATTTTCAGTAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCCTGATCTGTCCGCCTCGTCTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCGACATGTGGCTATTAAAGCAAGTCTACATTGACCAGATTTTACAGATTAAGCTCACAGTGGGCCAAGAAAATACAACTAAGGTCACACAACTTCTAAGTAGTGGAGCTGGGTTCTGAATATAGATCTGACTCTATTTTGCCATGTTAGATGATTAC
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TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAATCAAGTTATCTACAATAGCTTTTTGCTTAAGAGAAAAACAATTCTGTGAGTTGTCTGTTTTAGTAAAATCAGTCTCCTGCCAGACCTCTGCTAGGGGATTTCTCTCTCAAGAATTCTCAGTAAAAGGTTTTTCCCTTCCCCCAGTGAGAACCTCATTAGCCCCTGGGACTGCACATTTTTATAAAGTGAAAGCATGCTATTACAGAAAGGGAAACATGTATCTGAAATTCTGCTGGGAGGCAAACAAAAGCAAGATAACAAAATAGGACCCCCAGGCTTTGTACACCAGTCACAACAAATCACAGTCTTGGAGACAGCCGAGCTGTGGGATGATGAAGAGCCAAAGGGTCTGAAGTGGTACTGGGATGTTTCTCAGCTCAAACAAAACTTAAAAACATGAGTAGACCCACCCACAACTAGCAGAAGTGTGAGCATTTAATGACTAACTCTGACTATACATCTGCCTGACTGTTACAAATGTGTTTAATACAGTTGTTACCTCAGCATCTGTTTTTAGGGCTAGCATAAATTATTTGAAACCCAGATGTACCCTGTCAACTTTGGCCTAGTTAAAACATCCCTTCCCTGAGCAGAGGTTTGAAATATAGCCCACTTGTCCCTCCCCTCCACCCCTACCCCACCCCTAAGGGAGCAGGCCTGTCCTGGATGGCTCCCCCTTCTTCCCATTGGCCCCTGAAGCATGCTGCCCTCTTCTCTGTGGGATCTGTCAAGTAAGCTGATTCCGTTATTTCCTGTGTTTTGTGCACTGCCTCCTTTGTGTCTCACCTGACCAACACACCTGAACCTAACTTGTTTCCTAGTCAGGGCTCTTCTAGAGAGTCACTATCTCAAGGGAAATGAACTAGACACAGTTCAGACAAGAGCCACAAGGGTACCTGCCAGTACAAACAAGTTTCCTGTGAGAGGGACATCTGGTCATGGGTCAGGCAGGCATTAGGCCATCTGCCAGGACAGAGGAGTATCCTGTGAAAGGCAAACTATGAACACCCACAACGAACTCCCTAGTGTTTGGCAGGACAGGGCTAGAGTTTATAGCCACTCTCCTGACAGAGACCTCAAGACCAAATTAGAAAGAAAAAACCTAGAACACTGACCATCAGTACAGTTTACCAGGAATTTAGATTCATGCCGCTTAGCCTAGAAAGAACCTGTGAATGAAGCACAGTCTGCTGTTATGCGTTCCACCTCTGATTCCAGAGGCAGAGATGTTCAGCTGGCTGGGCACACACAGCCACTGTTGTCCATTTCAGTATGCCAGCCGGGCTACTACATGGCTGCCCTAATCTGGGCCTTTCTCTCAGGGGAAGTAAGAGGCAGGCAGAAGATACGAAAGTGATCTCAAGGTGGCTCAATGACCTAGAGCTGGCCCCCTTGTTCCACTACTGTTCTAAACTGTAGGGGCTCCTAAGTGGCTAATTCACTTCCAGGAGTACCTGGCAGAATATGCTCCAGTCCTCACACGTAAGGAGCAGGGAGGCAGGCTCTGTGGGGGAGCTTGGAGCCACCATACTCCCTGTAGTAGCAAGAGCTACAACACACCTCGTTAGCCTGTGAGCGGTACCACAGCCACCCAAAGGGTAGGATCAAACCCTCCTTCCCTTTTCTCTACCACTGTGCTCCCAAATAAGCTATGGGAGACCCCAGCACTACTTACCAGGCCTGTAGGTCACAAGACAGTGCCGGGAGCTGTTCTCTGTCTGAAAGTCTTTGCAGCCCCCTGGCTCCAAGGGCAGCACATGAGGCCAATGAGAAAAGTCCATTTTCTGTTCCCAGAATGAAGCATCCTCCAAGGTTCCAGCCAGCACCCCACCATATGGAAATGCAGCTGAGGCAGCTCTGGGCATGTATGACAGGGAGACCAGTGGGCATCTGAAAGGAAAGTAAGGAAACTGTATCTCACACTCCAAAACTCGGACGGCTCCAGACCCCACTACCAGACCTCAAGCACATTCCCACCTCTGCAGAGGAGGTTAAACGCCTTTAGTCACTATCCTCTGATATCTGATAAAAATTATCAACCCTCTCTGTAGAAACAAAAGGACATACATATAATATTCTGCAACTAATTTCAGGTGAGATACCAGATGCTCTAAAAGAAAAGGAAAAAAAGAACTAGGAAATTTAAGGGATACAAGATCACAATTACTATGAAGCTTGACTGATGTGAAGCTTCTGGAAATGGGTTTAGCCACATAAGAAAAGTCAGAAAAGAAACAAAGCTTATATACATAACAAAATAAAGATCCCAAGTTGTAGTTGACAGACCCCACAATTAAAATACAGCTAAAAGCAGCTACATTTTAATTCAGAAACAGGACTGTTTTAGGTTTTCTAAATTTCCTTCTGCAAGCATATGACCAGGACTATGCGCCAAGAATTCTCTCAGAAATATCATCCTTCCGACTGTGTTCCTATCAACTCATTTCTGCTATGAAGTCGTTCGTGCCAAAGTTGCCAAAGTGTCTACTTTGCCTGTTTTATTTTCCCTGTCACAATAAAGGTAATCAAAGTAAACAAAAATAAAAATGAACATTACATACAAATATTCTTTCCTTGCTATTTTAAAACTTGCTGTGTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAAGCCGAGGTGGGAGAATCACTTGAGGTCACCGGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGTCAGGTGTGGTGGCACACGCGTATAGTCCCAGCTACTCGGGAGGTGGAGGATGCAGTGATCCAAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACCATCTTAAAAAAACAAAACAAAACAAAAAAACCACTACCACCAACAAAAAAAAAAAACCTTGCCATATTTTACTGTCTACTCTATTTGGGCCTAGGTTTCAGTAAAGAATTATTACTTTAGTGGTATCTTTATGTTTGGCTCTCCTTGCTCTTTTTAATATATCCAGTTGGAAACATAAATTATCTGTTAAGATACTTCAGATTTTGGCCAGGTCACAGACCCTACTCCCTTTTTGATAACTTTATACCTACAGGGCAGCTCAACACATTCTAAGACAGAGTGGTGCTGGTGGCCATCCATCCTCAGAACTTGGGCTCACTTTATAAACTTCTCAATCTCATAACTGGATTAAATGATAAATAATAATAATATGGTATCTTCAAACAAGTTGGTTTAGCTTTGGATTAGGGAAGTTTTAAATCACTTTTGATTAGGTTACCCTTAACTGATCTCTTCCTATGTGCTAGACATGTGGCTATTTTTTTTTTTCTTGAGATGGCGTCTCACTCTGTTGCCCAGACTGGAGTGCAACGGCGCAATCTCGGCTCACCGCAACCTCCGCCTCCGAGGCTCAATAGATTCTTCTGCCTCGGCCTTCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCATGGCTAACATTTTTTTGTATTTTCAGTAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCCTGATCTGTCCGCCTCGTCTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCGACATGTGGCTATTAAAGCAAGTCTACATTGACCAGATTTTACAGATTAAGCTCACAGTGGGCCAAGAAAATACAACTAAGGTCACACAACTTCTAAGTAGTGGAGCTGGGTTCTGAATATAGATCTGACTCTATTTTGCCATGTTAGATGATTAC
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Task1_train_22893
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Consider this mutation in MLKL (mixed lineage kinase domain like pseudokinase) on Chromosome 16. Is this a benign change or a disease-causing variant?
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Pathogenic; Maturity onset diabetes mellitus in young
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TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTGGTTTCATTTGTGGTTACCTATTTTTGGCAAGTGACACTGGTTTTCAATTTATGGTAGTAAGAGAAAGTGTCCTTTTTAAAAGCTTTATTTCAATTATTATTATTATTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGCCTGGAGTGCAGTGGTACGATATCAGTTCATTGAAACCTCCGCCTCCTGGGTTCAAGTGATTCTTGTCCCTCAAGCCTCCTGAGTAGCTGAGATTACAGGCCTGTGGCACCATGCTGGGCTAATTTCTGTATTTTTAGTAAAAACAGGGTTTCGCCACGTTGGCCAGGCTAGTCTCCAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTATGGGCGTGAGCCACTGGGCCAGGCCTTTATTCCGATTTTTAAAAAGTGAGTCAATGTAATGAAAAATGTTAAGTAAATAACACTGGTAGTAGTATAGTTAAAACCCTGCAGATGGTTTGTGAGTGACTAACCTTTGGGGACCCTTGGGACTAAGAATCCATAGATTCTGCAGGTGAGAATAGGTAGAGTTGCCAAATAAAACACAAGACACGGCCGGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAATTAGCCAGGCGTAGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAGAAGAAAAAAAAAGAAAAGAAAAAAACACAAGACACTCCATTAAATTTGAGTTTCTGATAAGCAATGAATATATAGATTCACGTACACGCATATATATATGTACAAGCATGCCCACAAATTGTATAGGACATAGTTGTACTAAAAATAAATGTTTATCCAAAATTTGAGACTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGAAAGCTGAGGCAGGAGGATTGCTTGAGCCCAGTAGTTCGAGACCAGCCTAGGCAGCATGGCAAAACCTTATCTCTACAAAAAATATATATAAAAAAAAAACTGGCTGAGTGTAGTGGTGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTAAGGTAGGAGAATCCCTTCAGCTCGGGAGGTTAAGTGATCTGTGATCATATCAGTGCACTCCAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAACATAAAATAAAATTTGATATTTTTGATATTTAGTATAAGTATATACCATGCAATGTTTAGGATGCACTTATACTAAAAAATGATTCATTACTTTCCTAACGTTCAAATTTAACTGGATATGTTCATTTTTATGCTAAATCTGTCCACTCCAAAATTAGGGCTCATCCAACTCTATAAGTGCAGTGTGGACATCAATTTCAACCGTCAGTTCTGGGAGCTGGTGTTCCCTGGGTTAAGCCTCTTTCCTCCCTCCTATCTGTAATCAGAGTAAATAGTAAAACAGTGTATGGGAGGGAGACTGTCTGGGGCGTCTGGCCTGTTCTCTCACCATCTCTGGGAGTATCAGGAGTGTGGACAGACCCATCCAACCCTTAGTGGCGCCTTTTCACCCCGTCTTACCGGTATAGGCCTCGGGCTGCCCCCAGGACTAGGACCATGCGCTTGCCAAGTGTGAGGTCTTTTTCCCTATCCAACAGCTCCCTCAGGGTCCCGAGTTCACAGTACTCCATGACAATGGAGAATTGAGGCGGAGTCACTGGTGGAAAGGAGCCAGACACTATGAGGACCCGCCCTACTTGAAGCTTCCCATGTCTGCAGCCCACCTCTCCCAGCCTCGGTACAGATACAGACTTGGCTCTGCTGAGTCCCATTTCTCCCCCAATCCTCAGCCCACAGTTTTGGTCCCCGGCCTCCTTGAATGGACCAAATATGCCCAGAATTCCCATCCTCTTCTCCATAATACTTGGCTTGTCGTAATTCTACCTTAAAAAAAAAATTGGCTGGGTGCGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAATGTGGGTGGAACACAAGGTCAGGAGTTTGAGATCAGCCTGGCCTACGTGGTGAAACCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCGTGTAATCCCATCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCTGCGTGGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGACACTACATCTCAAAAAAAAAAAAAAAATGTTCTGCCAGGTGTGGTGACTCACGCCTGTAATCCTGGCTCTTTGGGAGGCTGAGGCTGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTATGAAAAATGCAAAAATTAGCCAGGTGTGGTGGGACATGCCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTCGGAGGTGGAAGCTGCAGTAAGCATATTGTACCACCGCACTCCAGCCTGAGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCTTTTTCTTTTTCTTTTTTAACTTCTATCTCCCTTTCTTGGTATAATTCAAAATTTTCTTGAGCAGTTATTTGGCGAATGTCTTCCTCACTCAACTGGATTCCCAAGAAGGCAGGAAATGTGTCTGTCTTGTTCACATGGGTGCTCACAAGAAGCTTCGTACATCTGTGTGGGAGGAATGAGTAGGGCACACATGGCAGGGGCGGGTGAGGACTCAGACAAGAAGTCGACTTCCCCATTCATGGGCCTGAGCTGCAAAACTGACATGTGACTGAGCCAGGCACCTCAGCGGTCCCCAAGGAGAACAAACGTTGCTGAACATTTGTCTTTATTTTTTATTTTTTAATTTTTTTGAGACAGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCAGTTAATTTTTATATTTTTAGTAGAGACAGGGTTTTATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTGCCTGGCCTACGTTTCCCTTTAGATTGGGATTCCACACTCTGAAATCAAGTTGGCCTGAGGCTGTGGAGCAACTTCCAAAGGGGATAAGACAGGAGTTGCTCTGTCCAATCTCTAGGCAAGACGGCAGCAAAACATGACCAGCAGGAGGGGTCATTCCATGAGAGAAAATGCAGTCACATTGGGAAAAAAAGAAAAAAAAAAAAAAAAAAAGAGCCTGTCACATAAGGCTCTTGGTAGAGGGGTAAAGTAATGGTTTTTTTTTTTGTTTGTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAGAGGCATGTGCCACCACATCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGG
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TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTGGTTTCATTTGTGGTTACCTATTTTTGGCAAGTGACACTGGTTTTCAATTTATGGTAGTAAGAGAAAGTGTCCTTTTTAAAAGCTTTATTTCAATTATTATTATTATTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGCCTGGAGTGCAGTGGTACGATATCAGTTCATTGAAACCTCCGCCTCCTGGGTTCAAGTGATTCTTGTCCCTCAAGCCTCCTGAGTAGCTGAGATTACAGGCCTGTGGCACCATGCTGGGCTAATTTCTGTATTTTTAGTAAAAACAGGGTTTCGCCACGTTGGCCAGGCTAGTCTCCAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTATGGGCGTGAGCCACTGGGCCAGGCCTTTATTCCGATTTTTAAAAAGTGAGTCAATGTAATGAAAAATGTTAAGTAAATAACACTGGTAGTAGTATAGTTAAAACCCTGCAGATGGTTTGTGAGTGACTAACCTTTGGGGACCCTTGGGACTAAGAATCCATAGATTCTGCAGGTGAGAATAGGTAGAGTTGCCAAATAAAACACAAGACACGGCCGGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAATTAGCCAGGCGTAGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAGAAGAAAAAAAAAGAAAAGAAAAAAACACAAGACACTCCATTAAATTTGAGTTTCTGATAAGCAATGAATATATAGATTCACGTACACGCATATATATATGTACAAGCATGCCCACAAATTGTATAGGACATAGTTGTACTAAAAATAAATGTTTATCCAAAATTTGAGACTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGAAAGCTGAGGCAGGAGGATTGCTTGAGCCCAGTAGTTCGAGACCAGCCTAGGCAGCATGGCAAAACCTTATCTCTACAAAAAATATATATAAAAAAAAAACTGGCTGAGTGTAGTGGTGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTAAGGTAGGAGAATCCCTTCAGCTCGGGAGGTTAAGTGATCTGTGATCATATCAGTGCACTCCAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAACATAAAATAAAATTTGATATTTTTGATATTTAGTATAAGTATATACCATGCAATGTTTAGGATGCACTTATACTAAAAAATGATTCATTACTTTCCTAACGTTCAAATTTAACTGGATATGTTCATTTTTATGCTAAATCTGTCCACTCCAAAATTAGGGCTCATCCAACTCTATAAGTGCAGTGTGGACATCAATTTCAACCGTCAGTTCTGGGAGCTGGTGTTCCCTGGGTTAAGCCTCTTTCCTCCCTCCTATCTGTAATCAGAGTAAATAGTAAAACAGTGTATGGGAGGGAGACTGTCTGGGGCGTCTGGCCTGTTCTCTCACCATCTCTGGGAGTATCAGGAGTGTGGACAGACCCATCCAACCCTTAGTGGCGCCTTTTCACCCCGTCTTACCGGTATAGGTCTCGGGCTGCCCCCAGGACTAGGACCATGCGCTTGCCAAGTGTGAGGTCTTTTTCCCTATCCAACAGCTCCCTCAGGGTCCCGAGTTCACAGTACTCCATGACAATGGAGAATTGAGGCGGAGTCACTGGTGGAAAGGAGCCAGACACTATGAGGACCCGCCCTACTTGAAGCTTCCCATGTCTGCAGCCCACCTCTCCCAGCCTCGGTACAGATACAGACTTGGCTCTGCTGAGTCCCATTTCTCCCCCAATCCTCAGCCCACAGTTTTGGTCCCCGGCCTCCTTGAATGGACCAAATATGCCCAGAATTCCCATCCTCTTCTCCATAATACTTGGCTTGTCGTAATTCTACCTTAAAAAAAAAATTGGCTGGGTGCGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAATGTGGGTGGAACACAAGGTCAGGAGTTTGAGATCAGCCTGGCCTACGTGGTGAAACCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCGTGTAATCCCATCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCTGCGTGGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGACACTACATCTCAAAAAAAAAAAAAAAATGTTCTGCCAGGTGTGGTGACTCACGCCTGTAATCCTGGCTCTTTGGGAGGCTGAGGCTGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTATGAAAAATGCAAAAATTAGCCAGGTGTGGTGGGACATGCCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTCGGAGGTGGAAGCTGCAGTAAGCATATTGTACCACCGCACTCCAGCCTGAGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCTTTTTCTTTTTCTTTTTTAACTTCTATCTCCCTTTCTTGGTATAATTCAAAATTTTCTTGAGCAGTTATTTGGCGAATGTCTTCCTCACTCAACTGGATTCCCAAGAAGGCAGGAAATGTGTCTGTCTTGTTCACATGGGTGCTCACAAGAAGCTTCGTACATCTGTGTGGGAGGAATGAGTAGGGCACACATGGCAGGGGCGGGTGAGGACTCAGACAAGAAGTCGACTTCCCCATTCATGGGCCTGAGCTGCAAAACTGACATGTGACTGAGCCAGGCACCTCAGCGGTCCCCAAGGAGAACAAACGTTGCTGAACATTTGTCTTTATTTTTTATTTTTTAATTTTTTTGAGACAGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCAGTTAATTTTTATATTTTTAGTAGAGACAGGGTTTTATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTGCCTGGCCTACGTTTCCCTTTAGATTGGGATTCCACACTCTGAAATCAAGTTGGCCTGAGGCTGTGGAGCAACTTCCAAAGGGGATAAGACAGGAGTTGCTCTGTCCAATCTCTAGGCAAGACGGCAGCAAAACATGACCAGCAGGAGGGGTCATTCCATGAGAGAAAATGCAGTCACATTGGGAAAAAAAGAAAAAAAAAAAAAAAAAAAGAGCCTGTCACATAAGGCTCTTGGTAGAGGGGTAAAGTAATGGTTTTTTTTTTTGTTTGTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAGAGGCATGTGCCACCACATCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGG
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Task1_train_22894
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Assess the clinical impact of this variant on gene FA2H (fatty acid 2-hydroxylase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Hereditary spastic paraplegia 35
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GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCGGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
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GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCAGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
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Task1_train_22895
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This alteration occurs within gene FA2H (fatty acid 2-hydroxylase) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
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Pathogenic; Spastic paraplegia
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GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCGGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
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GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCAGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
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Task1_train_22896
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This genomic variant is located on Chromosome 16, within the FA2H (fatty acid 2-hydroxylase) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Hereditary spastic paraplegia 35
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GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTA
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GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGGAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTA
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Task1_train_22897
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The variant affects gene FA2H (fatty acid 2-hydroxylase), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hereditary spastic paraplegia 35
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GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTATGTTTAACCTTTTGAAGAATAGCCAGACTGTTT
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GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGGGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTATGTTTAACCTTTTGAAGAATAGCCAGACTGTTT
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Task1_train_22898
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This variant impacts the gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Hereditary spastic paraplegia 35
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CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTG
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CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCAGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTG
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Task1_train_22899
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This is a variant in LOC130059394, FA2H (ATAC-STARR-seq lymphoblastoid silent region 7701| fatty acid 2-hydroxylase), located on Chromosome 16. Is this mutation a likely cause of disease or not?
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Pathogenic; Spastic paraplegia
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GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
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GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACCAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
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Subsets and Splits
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