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_8400
|
This alteration occurs within gene DOK7 (docking protein 7) located on Chromosome 4. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Fetal akinesia deformation sequence 1
|
CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGGCTCTCTTCTGCCCACCCTACCCAGCTTGGGGGCCCCACCCCATCACGGCCCTCATGAGCCTCTCGGGGCATCCTCCTGGATGGCATCGCAGCGGGCATTGGCCTCCCCTCCATGCCCACCTCCAATTCTGATCAGGAGCACCCCTCACCCACAGTAGGACTGGAAGCTCTATCGGGCCAGAAGGTGCACAGGGGGCCAGGGGACTTGGACTTGAGTCCACCTCGTGGCTGTGTGATGGTGGACAGGTGGCGTGCCTTCTCTGGGCCTCAGTGTCCTTTTTGCTAAAGTAGGAATGGCGCTGTCCCATGACCCGGTTTGGGGACACTACGTGGAAGGAAGCATCCACAGCACAAGGTGCCGCTCGCCCTCGTGTGCCCGGGGTGGCTGCCAAGGGGCCGGCAGCGTCGCCACGTGTCGGGGCTGGCCTGAGTTCCGTGTCCCTGGAATCTACAGCCTGTGTTCCGTGAAGGCAGAGCATGACTGGGCAGCAGGCAGCGGGGGTTCTAATGCCGAGATTTCCCTTCCCCCCAACTCCTGCCCACCCCGGCGCCTTCCCTCCTGCGTACCTTTCTTTGGGCAATGGGCAGAGGCCCCGGAGCGGGCGGGATTCCTGTGAGGTGACGCCAGCCGGAGTGTCCAGCCGGGTGCAGCCAGCCCAGTGGCCCATTCACGCGGCCGCCAGGGCTTCATTCACCCCTGGCCGGGAGGGCAGCGCCCCCGTGACTCGCAGCTGGGGCTTCTCCACGGGTGGCGGCTGCATCGCTCTGCCAGTGACGCTGGGCTGGTCCCTGGGGGCCCTCCTGCTGCTGTGGGGGTGCAGGGGTGGATGCTGGCCCCAGGATGCTGCACACGGCCTCAGGGCAGCACCCACACACTGGCAGCTCCAGCTTCCCCTGAAAGATGACCGAGGAGGTGGGGAGGACGCGGTGCTGGCCAGCAGTGACGGCTGCAGCATGTGTGGGCAGGTGCCGTGCCACACCTTTTACAAACATCTGAATGCAGCCCTCCCAACAGCCCGGGGGAAGGAAGTGTGGTCACATGGCAGCCTTCCTGGGATGTGACCCCAGCTCCAGGTGGCACAGCTCCCTTCTCCTGTGGCCTTGGAGCCCTGAGGGGACCCTACTTGATGTCTCTGGGGTCTCCTGGCTGCTTCATTTGCCCTCAAGACGGCTGTGGGGGCAGGGTCGCTGGGACCTTGGGGCAGAGGAGGGACTGATCAAGTGCCTGCTGGGTGGCAGAGCAGCCACATCCCCCCATCCCCCCAAGCAAGCCCGGAAGGCAGGTATGTGGGCGGGGGCACCCATCTGTCCAGGGCAGGGCACCCCCTCCCTCCTCCCCATGCCCTGTCGGCTGCAGGACCTAGGATGGGCGGGGCAGCACTCACCCCAGCGCCCAAGTTTGAAGGGTGCGGCGGGGTCCCTGGGGAGTCCAGAGGCTCTGGGGACCCAGCTTCACAGAGCCAGGTGGGGTGTCGGCTCTGGGCACCCGGATTCACGGGGCCAGGCGGGGTGTCGGCTCTGGGCATCTGACTTCGTGGGGCCAGGCAGGGTGTCATTGTCGGCTCTTGGTGGAGTTTGCTGCGGTTTCCTGTGTTCCTCCTCTTCAGGGTCCCCAGCCCGCCCTCGGGCCAGACTGACCTGTCTCTGTCCTTCCTCTGCAGGGGCTGGCGTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTCCGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAGGTGCGTGTGGGAGCCTGGCCGGCCGGGGAGGGTGCGCTCGGCAGGCTGTGCGACGTCCCGGGGCGGGGGGCCACAGTGATTTGTCAGCCCCAGTTAGATGGCCAGCCTCCCCACCCCCAGCTAAGGAACCAGAACCTTTCCAGGCCAGGATTGCAGCCTGGGCTTCTGCAAGCCCTGCTGAGGGATTCAGAGCAGCGGGGGCTGGGCTCGTACCTGCAGGTGCTCTCCCTCGGGGGTCCGAGCTGTTGGAACGCTTGGCCCTAGAGCTTTCTGGCTGGGACAGTCAGCCACAGCTGCCACTGTGCAGTAAGAGACCCTCTGACCCACCACCACCATCTTCCACGCCCAGGAGCAGGGAAGGCCTTGCCCGAGCTCGGTGGCCCGGGGGCAGCTGGTCTGACTCTGCAGCTGGGGTCGGGACTGGCTCTGCCTGAGCCCGGTGTTTAGGCCCAAGGCCACCTCGGGAGGTCCCCTGGCTGTGGGGTCTCAGGACACGTTGGGCTGAGGGGGTCTCGTCTTGTCTCACCCACACTTCCTTGGCTGTGGCTGCGGCACTCTCTGCAGGAGTCCTTGGCCAGGGATGTTGCTGGACCCCAGAGGGGCTCTGGTGCCTGGGCACGGTGGGGCTCCCCAGGTCGGGGCGGGTGCTGGGCCAGGTGCCTCCATGGGCTCTCTCAAATGCTCCTCTTGCTCCACGAGGGCAGCGCTTGACCCAACGTCCAAGTGAGGCCAAGGCCTAGGCCATGTGGCGGGTGAGCAGCAAGCTCACATGTGGCGCCTCCTGGCACTGGCACCCCCGCCGTGGTGTGGCGGGGAAGGGTGACTGGGAGGGCAGAGGCGAGCAGCATGTGGGGTGGGACCTGGGCCTCCCTTCTCCTGGCCACAGCCCCCAATGCCCCCTGCCCACACCAGCAAAGTCCCGTTGGGGGCAGCCCTGGGAGTGGGGAGGTGGCACCTATGGCCAGCGCCCTCCCCGCTGCCCTGCCATGCTGGATGGTGCAGCTGCACCCCTGTAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGCGGCTGCAGGCAGGTGTGGATGGTGTGGTCAGCGTGGATGATGTGGTCGGTGTGTTTGGCTGTGCAAGGCGAGGGTGTGCAGAGTGCAGGGCGGGGACAGGGCCGGGCAGGGGCAGCAGGAGGCTGAGCAGGGCTCCCTGCTCTCTCCTGCTCCCCTCAGGCAGTTCCCGGGGAGCAGAGGGAAGCAGGGAAGCAGTACTGGGCAGAGGATGCCAGGGAGGGTTTGCCTGGGACAGCCACTAGATGGGACAGGCTCCACCGCAGGCAGCACGTGGGCCAGCCCCAGGCGGGGCCATTGCTGACAGCTGGAGGGGGTTGGGCTGACCAGAAGTCCCAGACCCCACTCCACAGGACATCTTTGTCAGAGTCAGCTGGGAGCTCTCAGAAAGCTCTGTTGTCAGGGCCTCGGCCTGCAGCTGTGCCCCCAAGCTGTGCCTCTGCAGGTGTGTGGGGGCCTCAGGCCACCCGGAGGTGGGTTGAGCTGGGACACTATGCTGGGCAGCACCCCACCAGAGAAGCCGTGGGCCCAGCCCCCGCAGGCTGGACTTACTGGAGGGTCTGGGCTGATGGGTTCGTCTGCCTGTGCTGGCAGCACACTGGAGCCCCGTGATCACAGGACTCCCACAATAGAGCCCTGCGGGCGGCATCCTCAAGCTCTGGGCTTTCTGCCGTCCTCCTGTGCTGAGCCCGCTGTGACCCACTGGAGGGGCCAAGAGATGCAGGAAGTCCAGCCCCTTGGTCTTCCGCATGTGGACACCGAGTCCCAGAGGCAGCCAGACCCACCAGGAGCAGGAGGGAAGGGCTCAGAGGTCTGGGGTCCACCATGCTCCGAGTATGGCGTGCATGTTACCTTCTTGGCCTGGCCTCCACGGGGGTGCACCGTTGCTGCACCCCATTT
|
CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGGCTCTCTTCTGCCCACCCTACCCAGCTTGGGGGCCCCACCCCATCACGGCCCTCATGAGCCTCTCGGGGCATCCTCCTGGATGGCATCGCAGCGGGCATTGGCCTCCCCTCCATGCCCACCTCCAATTCTGATCAGGAGCACCCCTCACCCACAGTAGGACTGGAAGCTCTATCGGGCCAGAAGGTGCACAGGGGGCCAGGGGACTTGGACTTGAGTCCACCTCGTGGCTGTGTGATGGTGGACAGGTGGCGTGCCTTCTCTGGGCCTCAGTGTCCTTTTTGCTAAAGTAGGAATGGCGCTGTCCCATGACCCGGTTTGGGGACACTACGTGGAAGGAAGCATCCACAGCACAAGGTGCCGCTCGCCCTCGTGTGCCCGGGGTGGCTGCCAAGGGGCCGGCAGCGTCGCCACGTGTCGGGGCTGGCCTGAGTTCCGTGTCCCTGGAATCTACAGCCTGTGTTCCGTGAAGGCAGAGCATGACTGGGCAGCAGGCAGCGGGGGTTCTAATGCCGAGATTTCCCTTCCCCCCAACTCCTGCCCACCCCGGCGCCTTCCCTCCTGCGTACCTTTCTTTGGGCAATGGGCAGAGGCCCCGGAGCGGGCGGGATTCCTGTGAGGTGACGCCAGCCGGAGTGTCCAGCCGGGTGCAGCCAGCCCAGTGGCCCATTCACGCGGCCGCCAGGGCTTCATTCACCCCTGGCCGGGAGGGCAGCGCCCCCGTGACTCGCAGCTGGGGCTTCTCCACGGGTGGCGGCTGCATCGCTCTGCCAGTGACGCTGGGCTGGTCCCTGGGGGCCCTCCTGCTGCTGTGGGGGTGCAGGGGTGGATGCTGGCCCCAGGATGCTGCACACGGCCTCAGGGCAGCACCCACACACTGGCAGCTCCAGCTTCCCCTGAAAGATGACCGAGGAGGTGGGGAGGACGCGGTGCTGGCCAGCAGTGACGGCTGCAGCATGTGTGGGCAGGTGCCGTGCCACACCTTTTACAAACATCTGAATGCAGCCCTCCCAACAGCCCGGGGGAAGGAAGTGTGGTCACATGGCAGCCTTCCTGGGATGTGACCCCAGCTCCAGGTGGCACAGCTCCCTTCTCCTGTGGCCTTGGAGCCCTGAGGGGACCCTACTTGATGTCTCTGGGGTCTCCTGGCTGCTTCATTTGCCCTCAAGACGGCTGTGGGGGCAGGGTCGCTGGGACCTTGGGGCAGAGGAGGGACTGATCAAGTGCCTGCTGGGTGGCAGAGCAGCCACATCCCCCCATCCCCCCAAGCAAGCCCGGAAGGCAGGTATGTGGGCGGGGGCACCCATCTGTCCAGGGCAGGGCACCCCCTCCCTCCTCCCCATGCCCTGTCGGCTGCAGGACCTAGGATGGGCGGGGCAGCACTCACCCCAGCGCCCAAGTTTGAAGGGTGCGGCGGGGTCCCTGGGGAGTCCAGAGGCTCTGGGGACCCAGCTTCACAGAGCCAGGTGGGGTGTCGGCTCTGGGCACCCGGATTCACGGGGCCAGGCGGGGTGTCGGCTCTGGGCATCTGACTTCGTGGGGCCAGGCAGGGTGTCATTGTCGGCTCTTGGTGGAGTTTGCTGCGGTTTCCTGTGTTCCTCCTCTTCAGGGTCCCCAGCCCGCCCTCGGGCCAGACTGACCTGTCTCTGTCCTTCCTCTGCAGGGGCTGGCGTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTCTGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAGGTGCGTGTGGGAGCCTGGCCGGCCGGGGAGGGTGCGCTCGGCAGGCTGTGCGACGTCCCGGGGCGGGGGGCCACAGTGATTTGTCAGCCCCAGTTAGATGGCCAGCCTCCCCACCCCCAGCTAAGGAACCAGAACCTTTCCAGGCCAGGATTGCAGCCTGGGCTTCTGCAAGCCCTGCTGAGGGATTCAGAGCAGCGGGGGCTGGGCTCGTACCTGCAGGTGCTCTCCCTCGGGGGTCCGAGCTGTTGGAACGCTTGGCCCTAGAGCTTTCTGGCTGGGACAGTCAGCCACAGCTGCCACTGTGCAGTAAGAGACCCTCTGACCCACCACCACCATCTTCCACGCCCAGGAGCAGGGAAGGCCTTGCCCGAGCTCGGTGGCCCGGGGGCAGCTGGTCTGACTCTGCAGCTGGGGTCGGGACTGGCTCTGCCTGAGCCCGGTGTTTAGGCCCAAGGCCACCTCGGGAGGTCCCCTGGCTGTGGGGTCTCAGGACACGTTGGGCTGAGGGGGTCTCGTCTTGTCTCACCCACACTTCCTTGGCTGTGGCTGCGGCACTCTCTGCAGGAGTCCTTGGCCAGGGATGTTGCTGGACCCCAGAGGGGCTCTGGTGCCTGGGCACGGTGGGGCTCCCCAGGTCGGGGCGGGTGCTGGGCCAGGTGCCTCCATGGGCTCTCTCAAATGCTCCTCTTGCTCCACGAGGGCAGCGCTTGACCCAACGTCCAAGTGAGGCCAAGGCCTAGGCCATGTGGCGGGTGAGCAGCAAGCTCACATGTGGCGCCTCCTGGCACTGGCACCCCCGCCGTGGTGTGGCGGGGAAGGGTGACTGGGAGGGCAGAGGCGAGCAGCATGTGGGGTGGGACCTGGGCCTCCCTTCTCCTGGCCACAGCCCCCAATGCCCCCTGCCCACACCAGCAAAGTCCCGTTGGGGGCAGCCCTGGGAGTGGGGAGGTGGCACCTATGGCCAGCGCCCTCCCCGCTGCCCTGCCATGCTGGATGGTGCAGCTGCACCCCTGTAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGCGGCTGCAGGCAGGTGTGGATGGTGTGGTCAGCGTGGATGATGTGGTCGGTGTGTTTGGCTGTGCAAGGCGAGGGTGTGCAGAGTGCAGGGCGGGGACAGGGCCGGGCAGGGGCAGCAGGAGGCTGAGCAGGGCTCCCTGCTCTCTCCTGCTCCCCTCAGGCAGTTCCCGGGGAGCAGAGGGAAGCAGGGAAGCAGTACTGGGCAGAGGATGCCAGGGAGGGTTTGCCTGGGACAGCCACTAGATGGGACAGGCTCCACCGCAGGCAGCACGTGGGCCAGCCCCAGGCGGGGCCATTGCTGACAGCTGGAGGGGGTTGGGCTGACCAGAAGTCCCAGACCCCACTCCACAGGACATCTTTGTCAGAGTCAGCTGGGAGCTCTCAGAAAGCTCTGTTGTCAGGGCCTCGGCCTGCAGCTGTGCCCCCAAGCTGTGCCTCTGCAGGTGTGTGGGGGCCTCAGGCCACCCGGAGGTGGGTTGAGCTGGGACACTATGCTGGGCAGCACCCCACCAGAGAAGCCGTGGGCCCAGCCCCCGCAGGCTGGACTTACTGGAGGGTCTGGGCTGATGGGTTCGTCTGCCTGTGCTGGCAGCACACTGGAGCCCCGTGATCACAGGACTCCCACAATAGAGCCCTGCGGGCGGCATCCTCAAGCTCTGGGCTTTCTGCCGTCCTCCTGTGCTGAGCCCGCTGTGACCCACTGGAGGGGCCAAGAGATGCAGGAAGTCCAGCCCCTTGGTCTTCCGCATGTGGACACCGAGTCCCAGAGGCAGCCAGACCCACCAGGAGCAGGAGGGAAGGGCTCAGAGGTCTGGGGTCCACCATGCTCCGAGTATGGCGTGCATGTTACCTTCTTGGCCTGGCCTCCACGGGGGTGCACCGTTGCTGCACCCCATTT
|
Task1_train_8401
|
Given this variant in gene DOK7 (docking protein 7) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Congenital myasthenic syndrome 10
|
CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGGCTCTCTTCTGCCCACCCTACCCAGCTTGGGGGCCCCACCCCATCACGGCCCTCATGAGCCTCTCGGGGCATCCTCCTGGATGGCATCGCAGCGGGCATTGGCCTCCCCTCCATGCCCACCTCCAATTCTGATCAGGAGCACCCCTCACCCACAGTAGGACTGGAAGCTCTATCGGGCCAGAAGGTGCACAGGGGGCCAGGGGACTTGGACTTGAGTCCACCTCGTGGCTGTGTGATGGTGGACAGGTGGCGTGCCTTCTCTGGGCCTCAGTGTCCTTTTTGCTAAAGTAGGAATGGCGCTGTCCCATGACCCGGTTTGGGGACACTACGTGGAAGGAAGCATCCACAGCACAAGGTGCCGCTCGCCCTCGTGTGCCCGGGGTGGCTGCCAAGGGGCCGGCAGCGTCGCCACGTGTCGGGGCTGGCCTGAGTTCCGTGTCCCTGGAATCTACAGCCTGTGTTCCGTGAAGGCAGAGCATGACTGGGCAGCAGGCAGCGGGGGTTCTAATGCCGAGATTTCCCTTCCCCCCAACTCCTGCCCACCCCGGCGCCTTCCCTCCTGCGTACCTTTCTTTGGGCAATGGGCAGAGGCCCCGGAGCGGGCGGGATTCCTGTGAGGTGACGCCAGCCGGAGTGTCCAGCCGGGTGCAGCCAGCCCAGTGGCCCATTCACGCGGCCGCCAGGGCTTCATTCACCCCTGGCCGGGAGGGCAGCGCCCCCGTGACTCGCAGCTGGGGCTTCTCCACGGGTGGCGGCTGCATCGCTCTGCCAGTGACGCTGGGCTGGTCCCTGGGGGCCCTCCTGCTGCTGTGGGGGTGCAGGGGTGGATGCTGGCCCCAGGATGCTGCACACGGCCTCAGGGCAGCACCCACACACTGGCAGCTCCAGCTTCCCCTGAAAGATGACCGAGGAGGTGGGGAGGACGCGGTGCTGGCCAGCAGTGACGGCTGCAGCATGTGTGGGCAGGTGCCGTGCCACACCTTTTACAAACATCTGAATGCAGCCCTCCCAACAGCCCGGGGGAAGGAAGTGTGGTCACATGGCAGCCTTCCTGGGATGTGACCCCAGCTCCAGGTGGCACAGCTCCCTTCTCCTGTGGCCTTGGAGCCCTGAGGGGACCCTACTTGATGTCTCTGGGGTCTCCTGGCTGCTTCATTTGCCCTCAAGACGGCTGTGGGGGCAGGGTCGCTGGGACCTTGGGGCAGAGGAGGGACTGATCAAGTGCCTGCTGGGTGGCAGAGCAGCCACATCCCCCCATCCCCCCAAGCAAGCCCGGAAGGCAGGTATGTGGGCGGGGGCACCCATCTGTCCAGGGCAGGGCACCCCCTCCCTCCTCCCCATGCCCTGTCGGCTGCAGGACCTAGGATGGGCGGGGCAGCACTCACCCCAGCGCCCAAGTTTGAAGGGTGCGGCGGGGTCCCTGGGGAGTCCAGAGGCTCTGGGGACCCAGCTTCACAGAGCCAGGTGGGGTGTCGGCTCTGGGCACCCGGATTCACGGGGCCAGGCGGGGTGTCGGCTCTGGGCATCTGACTTCGTGGGGCCAGGCAGGGTGTCATTGTCGGCTCTTGGTGGAGTTTGCTGCGGTTTCCTGTGTTCCTCCTCTTCAGGGTCCCCAGCCCGCCCTCGGGCCAGACTGACCTGTCTCTGTCCTTCCTCTGCAGGGGCTGGCGTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTCCGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAGGTGCGTGTGGGAGCCTGGCCGGCCGGGGAGGGTGCGCTCGGCAGGCTGTGCGACGTCCCGGGGCGGGGGGCCACAGTGATTTGTCAGCCCCAGTTAGATGGCCAGCCTCCCCACCCCCAGCTAAGGAACCAGAACCTTTCCAGGCCAGGATTGCAGCCTGGGCTTCTGCAAGCCCTGCTGAGGGATTCAGAGCAGCGGGGGCTGGGCTCGTACCTGCAGGTGCTCTCCCTCGGGGGTCCGAGCTGTTGGAACGCTTGGCCCTAGAGCTTTCTGGCTGGGACAGTCAGCCACAGCTGCCACTGTGCAGTAAGAGACCCTCTGACCCACCACCACCATCTTCCACGCCCAGGAGCAGGGAAGGCCTTGCCCGAGCTCGGTGGCCCGGGGGCAGCTGGTCTGACTCTGCAGCTGGGGTCGGGACTGGCTCTGCCTGAGCCCGGTGTTTAGGCCCAAGGCCACCTCGGGAGGTCCCCTGGCTGTGGGGTCTCAGGACACGTTGGGCTGAGGGGGTCTCGTCTTGTCTCACCCACACTTCCTTGGCTGTGGCTGCGGCACTCTCTGCAGGAGTCCTTGGCCAGGGATGTTGCTGGACCCCAGAGGGGCTCTGGTGCCTGGGCACGGTGGGGCTCCCCAGGTCGGGGCGGGTGCTGGGCCAGGTGCCTCCATGGGCTCTCTCAAATGCTCCTCTTGCTCCACGAGGGCAGCGCTTGACCCAACGTCCAAGTGAGGCCAAGGCCTAGGCCATGTGGCGGGTGAGCAGCAAGCTCACATGTGGCGCCTCCTGGCACTGGCACCCCCGCCGTGGTGTGGCGGGGAAGGGTGACTGGGAGGGCAGAGGCGAGCAGCATGTGGGGTGGGACCTGGGCCTCCCTTCTCCTGGCCACAGCCCCCAATGCCCCCTGCCCACACCAGCAAAGTCCCGTTGGGGGCAGCCCTGGGAGTGGGGAGGTGGCACCTATGGCCAGCGCCCTCCCCGCTGCCCTGCCATGCTGGATGGTGCAGCTGCACCCCTGTAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGCGGCTGCAGGCAGGTGTGGATGGTGTGGTCAGCGTGGATGATGTGGTCGGTGTGTTTGGCTGTGCAAGGCGAGGGTGTGCAGAGTGCAGGGCGGGGACAGGGCCGGGCAGGGGCAGCAGGAGGCTGAGCAGGGCTCCCTGCTCTCTCCTGCTCCCCTCAGGCAGTTCCCGGGGAGCAGAGGGAAGCAGGGAAGCAGTACTGGGCAGAGGATGCCAGGGAGGGTTTGCCTGGGACAGCCACTAGATGGGACAGGCTCCACCGCAGGCAGCACGTGGGCCAGCCCCAGGCGGGGCCATTGCTGACAGCTGGAGGGGGTTGGGCTGACCAGAAGTCCCAGACCCCACTCCACAGGACATCTTTGTCAGAGTCAGCTGGGAGCTCTCAGAAAGCTCTGTTGTCAGGGCCTCGGCCTGCAGCTGTGCCCCCAAGCTGTGCCTCTGCAGGTGTGTGGGGGCCTCAGGCCACCCGGAGGTGGGTTGAGCTGGGACACTATGCTGGGCAGCACCCCACCAGAGAAGCCGTGGGCCCAGCCCCCGCAGGCTGGACTTACTGGAGGGTCTGGGCTGATGGGTTCGTCTGCCTGTGCTGGCAGCACACTGGAGCCCCGTGATCACAGGACTCCCACAATAGAGCCCTGCGGGCGGCATCCTCAAGCTCTGGGCTTTCTGCCGTCCTCCTGTGCTGAGCCCGCTGTGACCCACTGGAGGGGCCAAGAGATGCAGGAAGTCCAGCCCCTTGGTCTTCCGCATGTGGACACCGAGTCCCAGAGGCAGCCAGACCCACCAGGAGCAGGAGGGAAGGGCTCAGAGGTCTGGGGTCCACCATGCTCCGAGTATGGCGTGCATGTTACCTTCTTGGCCTGGCCTCCACGGGGGTGCACCGTTGCTGCACCCCATTT
|
CCAGGCCTTGCCCGGTTGACCGTGTCTTCGGGGTGAGTGACGCTCCGCAGACGCCGCATGGAATGCGGGGCCGGCTCCACTCCTTCCGTAATGTGGTTTTTTATAGTCGGGGGACTCATTGTCCCGTGGCCACTGCCAGCTGTCTGTAAGCTCAGGATTAGAGAGCCTGGCCTTTCGTGAGAGCTGGGGCTGTGCCGGCTGAGCCCTTCACAGGGAGGGGTGGACCACGGGGACAGGGAGCGACTGCCTGGCACTGAGTGAGCCAGCCAGCAGACAGCATGACGGCCTTCTCCTTGCCTGCCCCCAGGGCCTGGTGCAGGCTCTCTTCTGCCCACCCTACCCAGCTTGGGGGCCCCACCCCATCACGGCCCTCATGAGCCTCTCGGGGCATCCTCCTGGATGGCATCGCAGCGGGCATTGGCCTCCCCTCCATGCCCACCTCCAATTCTGATCAGGAGCACCCCTCACCCACAGTAGGACTGGAAGCTCTATCGGGCCAGAAGGTGCACAGGGGGCCAGGGGACTTGGACTTGAGTCCACCTCGTGGCTGTGTGATGGTGGACAGGTGGCGTGCCTTCTCTGGGCCTCAGTGTCCTTTTTGCTAAAGTAGGAATGGCGCTGTCCCATGACCCGGTTTGGGGACACTACGTGGAAGGAAGCATCCACAGCACAAGGTGCCGCTCGCCCTCGTGTGCCCGGGGTGGCTGCCAAGGGGCCGGCAGCGTCGCCACGTGTCGGGGCTGGCCTGAGTTCCGTGTCCCTGGAATCTACAGCCTGTGTTCCGTGAAGGCAGAGCATGACTGGGCAGCAGGCAGCGGGGGTTCTAATGCCGAGATTTCCCTTCCCCCCAACTCCTGCCCACCCCGGCGCCTTCCCTCCTGCGTACCTTTCTTTGGGCAATGGGCAGAGGCCCCGGAGCGGGCGGGATTCCTGTGAGGTGACGCCAGCCGGAGTGTCCAGCCGGGTGCAGCCAGCCCAGTGGCCCATTCACGCGGCCGCCAGGGCTTCATTCACCCCTGGCCGGGAGGGCAGCGCCCCCGTGACTCGCAGCTGGGGCTTCTCCACGGGTGGCGGCTGCATCGCTCTGCCAGTGACGCTGGGCTGGTCCCTGGGGGCCCTCCTGCTGCTGTGGGGGTGCAGGGGTGGATGCTGGCCCCAGGATGCTGCACACGGCCTCAGGGCAGCACCCACACACTGGCAGCTCCAGCTTCCCCTGAAAGATGACCGAGGAGGTGGGGAGGACGCGGTGCTGGCCAGCAGTGACGGCTGCAGCATGTGTGGGCAGGTGCCGTGCCACACCTTTTACAAACATCTGAATGCAGCCCTCCCAACAGCCCGGGGGAAGGAAGTGTGGTCACATGGCAGCCTTCCTGGGATGTGACCCCAGCTCCAGGTGGCACAGCTCCCTTCTCCTGTGGCCTTGGAGCCCTGAGGGGACCCTACTTGATGTCTCTGGGGTCTCCTGGCTGCTTCATTTGCCCTCAAGACGGCTGTGGGGGCAGGGTCGCTGGGACCTTGGGGCAGAGGAGGGACTGATCAAGTGCCTGCTGGGTGGCAGAGCAGCCACATCCCCCCATCCCCCCAAGCAAGCCCGGAAGGCAGGTATGTGGGCGGGGGCACCCATCTGTCCAGGGCAGGGCACCCCCTCCCTCCTCCCCATGCCCTGTCGGCTGCAGGACCTAGGATGGGCGGGGCAGCACTCACCCCAGCGCCCAAGTTTGAAGGGTGCGGCGGGGTCCCTGGGGAGTCCAGAGGCTCTGGGGACCCAGCTTCACAGAGCCAGGTGGGGTGTCGGCTCTGGGCACCCGGATTCACGGGGCCAGGCGGGGTGTCGGCTCTGGGCATCTGACTTCGTGGGGCCAGGCAGGGTGTCATTGTCGGCTCTTGGTGGAGTTTGCTGCGGTTTCCTGTGTTCCTCCTCTTCAGGGTCCCCAGCCCGCCCTCGGGCCAGACTGACCTGTCTCTGTCCTTCCTCTGCAGGGGCTGGCGTCTTCTTCCTGTCCTCGGCCGAGGGGGAGCAGATCAGCTTCCTGTTCGACTGCATCGTCTGAGGCATCTCCCCCACCAAGGGCCCCTTTGGGCTGCGGCCGGTTCTACCAGGTGCGTGTGGGAGCCTGGCCGGCCGGGGAGGGTGCGCTCGGCAGGCTGTGCGACGTCCCGGGGCGGGGGGCCACAGTGATTTGTCAGCCCCAGTTAGATGGCCAGCCTCCCCACCCCCAGCTAAGGAACCAGAACCTTTCCAGGCCAGGATTGCAGCCTGGGCTTCTGCAAGCCCTGCTGAGGGATTCAGAGCAGCGGGGGCTGGGCTCGTACCTGCAGGTGCTCTCCCTCGGGGGTCCGAGCTGTTGGAACGCTTGGCCCTAGAGCTTTCTGGCTGGGACAGTCAGCCACAGCTGCCACTGTGCAGTAAGAGACCCTCTGACCCACCACCACCATCTTCCACGCCCAGGAGCAGGGAAGGCCTTGCCCGAGCTCGGTGGCCCGGGGGCAGCTGGTCTGACTCTGCAGCTGGGGTCGGGACTGGCTCTGCCTGAGCCCGGTGTTTAGGCCCAAGGCCACCTCGGGAGGTCCCCTGGCTGTGGGGTCTCAGGACACGTTGGGCTGAGGGGGTCTCGTCTTGTCTCACCCACACTTCCTTGGCTGTGGCTGCGGCACTCTCTGCAGGAGTCCTTGGCCAGGGATGTTGCTGGACCCCAGAGGGGCTCTGGTGCCTGGGCACGGTGGGGCTCCCCAGGTCGGGGCGGGTGCTGGGCCAGGTGCCTCCATGGGCTCTCTCAAATGCTCCTCTTGCTCCACGAGGGCAGCGCTTGACCCAACGTCCAAGTGAGGCCAAGGCCTAGGCCATGTGGCGGGTGAGCAGCAAGCTCACATGTGGCGCCTCCTGGCACTGGCACCCCCGCCGTGGTGTGGCGGGGAAGGGTGACTGGGAGGGCAGAGGCGAGCAGCATGTGGGGTGGGACCTGGGCCTCCCTTCTCCTGGCCACAGCCCCCAATGCCCCCTGCCCACACCAGCAAAGTCCCGTTGGGGGCAGCCCTGGGAGTGGGGAGGTGGCACCTATGGCCAGCGCCCTCCCCGCTGCCCTGCCATGCTGGATGGTGCAGCTGCACCCCTGTAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGTGGATGCACCCCTGCAGGTGTCTTCCTGCCTAGCGGCTGCAGGCAGGTGTGGATGGTGTGGTCAGCGTGGATGATGTGGTCGGTGTGTTTGGCTGTGCAAGGCGAGGGTGTGCAGAGTGCAGGGCGGGGACAGGGCCGGGCAGGGGCAGCAGGAGGCTGAGCAGGGCTCCCTGCTCTCTCCTGCTCCCCTCAGGCAGTTCCCGGGGAGCAGAGGGAAGCAGGGAAGCAGTACTGGGCAGAGGATGCCAGGGAGGGTTTGCCTGGGACAGCCACTAGATGGGACAGGCTCCACCGCAGGCAGCACGTGGGCCAGCCCCAGGCGGGGCCATTGCTGACAGCTGGAGGGGGTTGGGCTGACCAGAAGTCCCAGACCCCACTCCACAGGACATCTTTGTCAGAGTCAGCTGGGAGCTCTCAGAAAGCTCTGTTGTCAGGGCCTCGGCCTGCAGCTGTGCCCCCAAGCTGTGCCTCTGCAGGTGTGTGGGGGCCTCAGGCCACCCGGAGGTGGGTTGAGCTGGGACACTATGCTGGGCAGCACCCCACCAGAGAAGCCGTGGGCCCAGCCCCCGCAGGCTGGACTTACTGGAGGGTCTGGGCTGATGGGTTCGTCTGCCTGTGCTGGCAGCACACTGGAGCCCCGTGATCACAGGACTCCCACAATAGAGCCCTGCGGGCGGCATCCTCAAGCTCTGGGCTTTCTGCCGTCCTCCTGTGCTGAGCCCGCTGTGACCCACTGGAGGGGCCAAGAGATGCAGGAAGTCCAGCCCCTTGGTCTTCCGCATGTGGACACCGAGTCCCAGAGGCAGCCAGACCCACCAGGAGCAGGAGGGAAGGGCTCAGAGGTCTGGGGTCCACCATGCTCCGAGTATGGCGTGCATGTTACCTTCTTGGCCTGGCCTCCACGGGGGTGCACCGTTGCTGCACCCCATTT
|
Task1_train_8402
|
A variant has been detected on Chromosome 4 in DOK7 (docking protein 7). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Congenital myasthenic syndrome 10
|
TCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAAGGCAGGTGAGCTGGCTGCCCAGGAGCAGAGGCACCTCCTCAGCTGCCGGTGGCTCTGGCTCTGTTGCCATTGTGGGGAGAGGTGGTGGTGGAAGGGGCTGGCAGAGCAGGAGGGGCCGCTGTGCTCCCCGAAGGGTGGCTGCATGGGTGACCTGTGTTCCCACGGCCAAGTGCAGGAGCCGTGCTGGTCCGGCCAGTGCCCTCTGATCACTGCTTGTCCCCCAGAGGGCACCAAGCAGACAGTGGTCATCTCCCCTCCTGCCCTGCCCCAGGAGGAGGGGACTCAGGTTTGCAATAAGCTTTTGCCTTCCTGGGGGTGACTCACAGCTGCTTTCCATTTGGGAGCCCTGGAAGGCAGAGCAGGCAGCTTAGAGACGCAGCAGAGATGAAAGTGGCTTTCCCAAGAGCACGGGAGGGGCCTGGCCTGGCAGGCGGGAGGCAGCCTGGGATCTGCATTGGGTGTGCTTCTCATCCCCCGCAGGGAGGGAGACTGGGAGTGAGGCAAGGACGCCAGCATGGTGAGGGCAGGGGGCGAGTCGAGGTGTGTGGGCACAGCTGGTGCCTCGTGTCCAGGCTGGCAGGGCCTGGGAAGTTCTTGGGGAAGGGACGTCCAGACCAGCCTGGGGCCGTGATGGTGCGGAGGGCAAGCTGCCCCAGGTGGCCCTGGAAGGTAGTCGGGATGGCTGGGTATGGAGCGTGGGGTGTTAGGCAGGGAGGGTGGGGAGCTCTAGGGAAGGGGAGGAGGCGGGGACCAAGGTAGTGGCAGGGGTGCTGAGAGGGAGGGGCGCAGGCCGTAGGAGAACAGGTGGCAGAAGGACAGGAACGGACAAAGAACAGGAGTGGATGAGGGGTAGAGGGGTTGTTGTTGGTGAAGCCAGGTTTCTGCTGTAGGCCCCGGGGCTTGGGGGCTGGAAGGGGTGGGGCGAGACCAGAGAGTGCTGGCCTGTGGGGGTCCACCAGGCATCAGCCACGTCCTGCCCAGACCCCTGTACCCCCACAACTGCCTTGGCTTCCTGCTCTGTCTCAGGGGATGACCGCAGCCTGTCCAGCTCATCCTCAGAGGCCAGTCACTTGGACGTCAGCGCCAGCAGCCGGCTCACCGCATGGCCAGAGCAATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGACCAGCAGCTGCCCAGGCCGCCGGGGAAGCCATGGTGGGTGCCTCAAGGCCACCCCCCAAGCCGCTGCGTCCGCGGCAGCTGCAGGAGGTTGGCCGCCAGAGCTCCTCGGACAGCGGCATCGCCACTGGCAGCCACTCCTCTTACTCCAGCAGCCTCTCGTCCTACGCGGGCAGCAGCCTGGACGTGTGGCGGGCCACAGATGAACTGGGCTCACTGCTCAGCCTGCCAGCAGCGGGGGCCCCCGAGCCCAGCCTGTGCACCTGCCTGCCCGGGACAGTCGAGTACCAGGTGCCCACCTCCCTGCGGGCCCACTATGACACACCACGCAGCCTTTGCCTGGCTCCTAGAGACCACAGCCCCCCCTCACAGGGCAGCCCCGGCAACAGTGCGGCCAGGGACTCAGGCGGCCAGACGTCCGCCGGGTGTCCCTCTGGCTGGCTGGGCACGAGACGGCGGGGCCTGGTGATGGAGGCCCCCCAGGGCAGCGAGGCCACACTGCCTGGCCCTGCCCCTGGCGAGCCCTGGGAAGCAGGCGGCCCCCACGCGGGGCCACCCCCGGCTTTCTTTTCGGCATGTCCAGTCTGTGGAGGACTCAAGGTAAACCCCCCTCCTTGAGAGCCGCAGATCCCGCCCCGCGGCTGCAAAGGGGCTGAATTTGCCCCCAGATGGCAGAGGAAGTGGCGCCAGCCTCCTTGCAGACTGGTGCTCTGTGTTCTGTGGGAGGGACCGGGGGTCTCCCGGAGAGGGGAGCTGGAGGGCGCGCCCTGTGGCTGCCACCGGAGGAAGGGGCTGACTTGGGGAGGTGAGTTCTGGAAGGCAGGGGCTCTGGGTCCGGCAGGTCGGGGTCACCAGAGCCCCAATGCTCAGCTGCTTCACTCCGTGTCCCCCACCCCTGAGGATCAGGTGAGTGCTGCACCTCTGTTGGCTCGTGCCTTGCACTGGGGTGCCAAGGGCTGGAGGCCCTGCCGCTGGCCTTGTCCTCCTTGGGCCTCACGCCCCCTTCGGGGGTGGCCGGTTCTCCCCATCACCTCTCTGGGGCAGTCACACCACCTGTTAAGCATCAAGCTACCACAGAGGCTCCGGCCACCTGGGCTCCACCAGCCCAGCCCCCCTGGGCTCCGTGTGCGCTGGGCCTCATCCCCATCTATGGGAGGAAACTGAAGCTCAGGAGGCTGTGTGGCTTGCGGGGTCTCTGGGTTCTGGGCCCCACTGTTCCCCAGTGAAGCCCTTGTGGGAAGGTTCCGGGAGCAGGTGGTGTCCTCAGAGCAGCCTCGCCTGCTGACCCCACTGGGAGAGGCGCCGTGCCTCGGGCCCCTGGTGGGAGCTCTGCTGGCTCCTGTCTGAACCTCCTCGCAGGGCCAAAGGCTGGCTTGGCCTGTGTTTCCCCTGGCCCAGGCCTCAGCCCCTGCGTCGGAGGTGGGGCTGTGTTGGGCCCATTGTCCCCCGCCCTGGGTGGCTTCCTCTTGCACAGCCTGGAGCCTGCCCTGACCACAGCCCAGCAGCTCCCTGTGAACACCTCTTTGTCCCTTCACTGTCAGCTGTTTCTAAACCCAGACACTGTTTGTAATAGACTGGAAATAAAATGTTCTTTCCTTACCACCTTGTCCTAGTCCGTTGCCCAGCCCTCTCCGCCTCCTCGCCCACCCTCCACGTGGGGCCTCTGCCTGGATGCGAAGTCCCCGGGCCCGGCTTCCCTGGCCTTTATCTCAGAGAGTGCGAGAGGCCTCATCTGTCTTGTGAGCCTTGGGCCTGAATGCTGTGGTGTGCGGAGAGGCAGCTCCGGGCAGCCCCCGGGCTGGGATGTGCATGTGTGGTGTGTGCACGTGTGGCACATTCCTGGGTGTGTCCTGGAGACCACAGTGGGGTCTGCAGTAGTCCCTCAGGCATGGGGCTCCTCAGGTCCCGGTGAGGGCGGACCTCAGGAGGGGGCTGGCTCTGAGCCCAGGGCCCCTGCCCTGCCTGTCTCCCCTACATGGGGCCGAGTTCCAGGCTTGTCTCAGTCACCCCTGCACATCTGTGTGGGTGCCTGCCTGCCCCCTCACCCGCCACCCTGTTGTGGGTGCCTGCCTGTCCCTTTGCCTGCCACCCTGTCAGGGACTGACTCTGAGCGGGGAGTTCTGGAGGGCTTCTGCAGCAGTGCCTGGTGAGCAAGCGTGGGCTTTGGGGACTGAGTTTGGGCCACATCCACTACCTGCTGGCTGGGTGACC
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TCCTTCTTCTTCCTGCTCATTCATTCCTTCCTTCCCCCCCATTCCTTCCTTTCTTTTCCCCCGGCTCATTCCTTCCTTCTCCCCACTCCTGCTCATTAATTCCTTCCCTCTCCCCCTGCTCGTTCATTCGTTTCTCCCTTCCCCCCATTCCTTCCTTCCTTCTTCCTCCTGCTCATTCATTCCTTCCCCCCTGCTCATTCCTTCCCCCCTGCTCATTCCTTCCTTCTCCCGCTGCTCTTTCATTCCTTCTCCCCTTGCTCATTCATTCCTTCATTCATTCCTTCCTCCGCCCCCCCGCTCATTCATTCCTGCCTTCTCCCCCTGCTCATTCATTCCTTCCTTCTTCGCCTGCTTGTTCCTTCCTTCCTCTGCTCCCCCTGCTCGTTCATTCCTTCCTGCTCACCCCAGCTTCCTTCTTTCCTTCTTCCCCTGCTCATTCATTTCTTTCTTCTCTCCCTACTCAATTTCTCTCTCACTCATTCATTCTTTCCTTGTCCCTCCGCTTATTCCTTCCTTCTGTCTGTTCATTCATTTCTTCCTTCTCCCACCTATTCATTCATTCCTTCCTTCACTTATGGTTCCACATTTACTAAACTCTGGTCTGAGGTGCTGACGGGAAAGGTGGTTCTGCCCTGAGAGCCTTTGAATCCTTTCCTGCCCACCAGCTTGTGGCTGGGGGAGACCAAGGCCCTGCATGTTGGTTTTACCTTCTGTGCCCAGACAAAAGGCTCTAAGGCAGGTGAGCTGGCTGCCCAGGAGCAGAGGCACCTCCTCAGCTGCCGGTGGCTCTGGCTCTGTTGCCATTGTGGGGAGAGGTGGTGGTGGAAGGGGCTGGCAGAGCAGGAGGGGCCGCTGTGCTCCCCGAAGGGTGGCTGCATGGGTGACCTGTGTTCCCACGGCCAAGTGCAGGAGCCGTGCTGGTCCGGCCAGTGCCCTCTGATCACTGCTTGTCCCCCAGAGGGCACCAAGCAGACAGTGGTCATCTCCCCTCCTGCCCTGCCCCAGGAGGAGGGGACTCAGGTTTGCAATAAGCTTTTGCCTTCCTGGGGGTGACTCACAGCTGCTTTCCATTTGGGAGCCCTGGAAGGCAGAGCAGGCAGCTTAGAGACGCAGCAGAGATGAAAGTGGCTTTCCCAAGAGCACGGGAGGGGCCTGGCCTGGCAGGCGGGAGGCAGCCTGGGATCTGCATTGGGTGTGCTTCTCATCCCCCGCAGGGAGGGAGACTGGGAGTGAGGCAAGGACGCCAGCATGGTGAGGGCAGGGGGCGAGTCGAGGTGTGTGGGCACAGCTGGTGCCTCGTGTCCAGGCTGGCAGGGCCTGGGAAGTTCTTGGGGAAGGGACGTCCAGACCAGCCTGGGGCCGTGATGGTGCGGAGGGCAAGCTGCCCCAGGTGGCCCTGGAAGGTAGTCGGGATGGCTGGGTATGGAGCGTGGGGTGTTAGGCAGGGAGGGTGGGGAGCTCTAGGGAAGGGGAGGAGGCGGGGACCAAGGTAGTGGCAGGGGTGCTGAGAGGGAGGGGCGCAGGCCGTAGGAGAACAGGTGGCAGAAGGACAGGAACGGACAAAGAACAGGAGTGGATGAGGGGTAGAGGGGTTGTTGTTGGTGAAGCCAGGTTTCTGCTGTAGGCCCCGGGGCTTGGGGGCTGGAAGGGGTGGGGCGAGACCAGAGAGTGCTGGCCTGTGGGGGTCCACCAGGCATCAGCCACGTCCTGCCCAGACCCCTGTACCCCCACAACTGCCTTGGCTTCCTGCTCTGTCTCAGGGGATGACCGCAGCCTGTCCAGCTCATCCTCAGAGGCCAGTCACTTGGACGTCAGCGCCAGCAGCCGGCTCACCGCATGGCCAGAGCAATCCTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGACCAGCAGCTGCCCAGGCCGCCGGGGAAGCCATGGTGGGTGCCTCAAGGCCACCCCCCAAGCCGCTGCGTCCGCGGCAGCTGCAGGAGGTTGGCCGCCAGAGCTCCTCGGACAGCGGCATCGCCACTGGCAGCCACTCCTCTTACTCCAGCAGCCTCTCGTTCTACGCGGGCAGCAGCCTGGACGTGTGGCGGGCCACAGATGAACTGGGCTCACTGCTCAGCCTGCCAGCAGCGGGGGCCCCCGAGCCCAGCCTGTGCACCTGCCTGCCCGGGACAGTCGAGTACCAGGTGCCCACCTCCCTGCGGGCCCACTATGACACACCACGCAGCCTTTGCCTGGCTCCTAGAGACCACAGCCCCCCCTCACAGGGCAGCCCCGGCAACAGTGCGGCCAGGGACTCAGGCGGCCAGACGTCCGCCGGGTGTCCCTCTGGCTGGCTGGGCACGAGACGGCGGGGCCTGGTGATGGAGGCCCCCCAGGGCAGCGAGGCCACACTGCCTGGCCCTGCCCCTGGCGAGCCCTGGGAAGCAGGCGGCCCCCACGCGGGGCCACCCCCGGCTTTCTTTTCGGCATGTCCAGTCTGTGGAGGACTCAAGGTAAACCCCCCTCCTTGAGAGCCGCAGATCCCGCCCCGCGGCTGCAAAGGGGCTGAATTTGCCCCCAGATGGCAGAGGAAGTGGCGCCAGCCTCCTTGCAGACTGGTGCTCTGTGTTCTGTGGGAGGGACCGGGGGTCTCCCGGAGAGGGGAGCTGGAGGGCGCGCCCTGTGGCTGCCACCGGAGGAAGGGGCTGACTTGGGGAGGTGAGTTCTGGAAGGCAGGGGCTCTGGGTCCGGCAGGTCGGGGTCACCAGAGCCCCAATGCTCAGCTGCTTCACTCCGTGTCCCCCACCCCTGAGGATCAGGTGAGTGCTGCACCTCTGTTGGCTCGTGCCTTGCACTGGGGTGCCAAGGGCTGGAGGCCCTGCCGCTGGCCTTGTCCTCCTTGGGCCTCACGCCCCCTTCGGGGGTGGCCGGTTCTCCCCATCACCTCTCTGGGGCAGTCACACCACCTGTTAAGCATCAAGCTACCACAGAGGCTCCGGCCACCTGGGCTCCACCAGCCCAGCCCCCCTGGGCTCCGTGTGCGCTGGGCCTCATCCCCATCTATGGGAGGAAACTGAAGCTCAGGAGGCTGTGTGGCTTGCGGGGTCTCTGGGTTCTGGGCCCCACTGTTCCCCAGTGAAGCCCTTGTGGGAAGGTTCCGGGAGCAGGTGGTGTCCTCAGAGCAGCCTCGCCTGCTGACCCCACTGGGAGAGGCGCCGTGCCTCGGGCCCCTGGTGGGAGCTCTGCTGGCTCCTGTCTGAACCTCCTCGCAGGGCCAAAGGCTGGCTTGGCCTGTGTTTCCCCTGGCCCAGGCCTCAGCCCCTGCGTCGGAGGTGGGGCTGTGTTGGGCCCATTGTCCCCCGCCCTGGGTGGCTTCCTCTTGCACAGCCTGGAGCCTGCCCTGACCACAGCCCAGCAGCTCCCTGTGAACACCTCTTTGTCCCTTCACTGTCAGCTGTTTCTAAACCCAGACACTGTTTGTAATAGACTGGAAATAAAATGTTCTTTCCTTACCACCTTGTCCTAGTCCGTTGCCCAGCCCTCTCCGCCTCCTCGCCCACCCTCCACGTGGGGCCTCTGCCTGGATGCGAAGTCCCCGGGCCCGGCTTCCCTGGCCTTTATCTCAGAGAGTGCGAGAGGCCTCATCTGTCTTGTGAGCCTTGGGCCTGAATGCTGTGGTGTGCGGAGAGGCAGCTCCGGGCAGCCCCCGGGCTGGGATGTGCATGTGTGGTGTGTGCACGTGTGGCACATTCCTGGGTGTGTCCTGGAGACCACAGTGGGGTCTGCAGTAGTCCCTCAGGCATGGGGCTCCTCAGGTCCCGGTGAGGGCGGACCTCAGGAGGGGGCTGGCTCTGAGCCCAGGGCCCCTGCCCTGCCTGTCTCCCCTACATGGGGCCGAGTTCCAGGCTTGTCTCAGTCACCCCTGCACATCTGTGTGGGTGCCTGCCTGCCCCCTCACCCGCCACCCTGTTGTGGGTGCCTGCCTGTCCCTTTGCCTGCCACCCTGTCAGGGACTGACTCTGAGCGGGGAGTTCTGGAGGGCTTCTGCAGCAGTGCCTGGTGAGCAAGCGTGGGCTTTGGGGACTGAGTTTGGGCCACATCCACTACCTGCTGGCTGGGTGACC
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Task1_train_8403
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A variant affecting Chromosome 4, within the gene LOC129992137, MSX1 (ATAC-STARR-seq lymphoblastoid silent region 15219| msh homeobox 1), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Tooth agenesis, selective, 1
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TCCCGAACTTCCCCAGGCCTCAGCATATCTCGGCGGCCTGTGGACAGATGGGAGGCTACCAATCGCTCCGGCGTCCGCAGCCCGACCCCTGCCGCCAGACCCCGGACGTCTTCCGGATAATAAAGTTCCCGCTCTAATTCATTTTCCCTAATCTGGACGCCCCTAATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGATCAGCGGCCCAGAGATAGGGACATGTCATTGTTTCCGAGGACGCGTTGTTTGAGGTCACCTTAAGGCCAGATCGGTGTTTCATTGACGATTCTGTTGGTTTTATTTCAGTAAGTTCTATATCAAAAGGATCTGGCAGCTCCTTTCCCCGCCCGGGCGCTATAGGTGTTGTGACCCTTGGGACAGAAGTTCAGAGCGAGGGTGGGGGGGGGGGAATACACATCGTGTATGAAAACCGACTGCAGATTCTAGATAATCTTACGTATTCTCACATCCTTGGCACTACAGGAAGCTAGCTTCTTCCCGCAAGGTTTACTCCAGCTCTAAGTTAGAGACAAAGGCCCACTTTTACCTCGAGGTAAAGTTTACAAGATTTCAGAACAGGAAGAAAATGAAGGTTTGGTTTTGTTTCGTTTCTTGAAAAGAAGTTAATAGTATGTCTTTCTCCTAGGATAAATAGCCATGCGTATTTTAAAAACTATATATAAAAGGAATGTGTAAGAAATAACCTCAACTCAAATTATTGTGGTAGAAGAAGAGGGGGGGTCAGACAGTGGAGGGGGGCACAGGGAAACCCAGCCACAGACTAAAGAGAAAGGTAAAAGAAGCAGTAGAGGAGAGAAACAAGGACGGGGAAAAAAAGAGGAGCGGAAAAGAGGGCTGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGCAGAAGAGAAGGAACGAGAACAAGGGAAAATCCCCCGGGAACACAGAAAGATAGAGACCCAGGGGACTCCCGCAGAGAGGGCCTCTTGGGCTTCAGCGCAGAGGAAAGTTTCCCGGGCACCCCCTCTCCTCCCCTGCCCTCCGCCGCCTGGGCCCTGCCCTGCGTGCCCCCAGGCCCAGCGCGCCTCCGGGCGAGTCCCCAGGAGCGCGGCCCAATGGATCGCTCCGGGCCCGCCCCCTCGCGCGCTGATTGGCCGCCGCCCCGCTGGCCTCGCCTTATTAGCAAGTTCTCTGGGGAGCCGCGGTAGGGCCCGGAGCCGGCGAGTGCTCCCGGGAACTCTGCCTGCGCGGCGGCAGCGACCGGAGGCCAGGCCCAGCACGCCGGAGCTGGCCTGCTGGGGAGGGGCGGGAGGCGCGCGCGGGAGGGTCCGCCCGGCCAGGGCCCCGGGCGCTCGCAGAGGCCGGCCGCGCTCCCAGCCCGCCCGGAGCCCATGCCCGGCGGCTGGCCAGTGCTGCGGCAGAAGGGGGGGCCCGGCTCTGCATGGCCCCGGCTGCTGACATGACTTCTTTGCCACTCGGTGTCAAAGTGGAGGACTCCGCCTTCGGCAAGCCGGCGGGGGGAGGCGCGGGCCAGGCCCCCAGCGCCGCCGCGGCCACGGCAGCCGCCATGGGCGCGGACGAGGAGGGGGCCAAGCCCAAAGTGTCCCCTTCGCTCCTGCCCTTCAGCGTGGAGGCGCTCATGGCCGACCACAGGAAGCCGGGGGCCAAGGAGAGCGCCCTGGCGCCCTCCGAGGGCGTGCAGGCGGCGGGTGGCTCGGCGCAGCCACTGGGCGTCCCGCCGGGGTCGCTGGGAGCCCCGGACGCGCCCTCTTCGCCGCGGCCGCTCGGCCATTTCTCGGTGGGGGGACTCCTCAAGCTGCCAGAAGATGCGCTCGTCAAAGCCGAGAGCCCCGAGAAGCCCGAGAGGACCCCGTGGATGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGTGAGTAGCCAGAACCCAGGCGCAGAGGGAGGGGGCCGGGTGGGGGCCGGGTGGGGTGTGGGACCCGAGGGCTCCTGGTGGCCTCCGGCGCCTGCGTACCTGCAGCCGGTGCTAGGGAGCCGTGGGCTGCAAGGCCGGGTCTTGCGCCTCCCTCCACTCCCACCCAGGAAGAAGGTTCCAGACCTCCTCGCCTTGGCCCAGAGACGCTGCGGGTGGGAGTTAACGGATAGGACACCGATGTCTGGGCACCCTGTCCTCCTGCCCCCACCAAACGACCTCAGGGGTCCATGATCCCTCATCTGATCCCAAACTCTGTTTCATCGGCTTCACCCCAGCGGATGAATGTGTGTGGTGCGGTATCTTCCCTGCACCCGGAGTTTCACTTTCTCGCAGTAGGAGCTGGTGTCCCCCAGCCCCTCTTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAG
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TCCCGAACTTCCCCAGGCCTCAGCATATCTCGGCGGCCTGTGGACAGATGGGAGGCTACCAATCGCTCCGGCGTCCGCAGCCCGACCCCTGCCGCCAGACCCCGGACGTCTTCCGGATAATAAAGTTCCCGCTCTAATTCATTTTCCCTAATCTGGACGCCCCTAATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGATCAGCGGCCCAGAGATAGGGACATGTCATTGTTTCCGAGGACGCGTTGTTTGAGGTCACCTTAAGGCCAGATCGGTGTTTCATTGACGATTCTGTTGGTTTTATTTCAGTAAGTTCTATATCAAAAGGATCTGGCAGCTCCTTTCCCCGCCCGGGCGCTATAGGTGTTGTGACCCTTGGGACAGAAGTTCAGAGCGAGGGTGGGGGGGGGGGAATACACATCGTGTATGAAAACCGACTGCAGATTCTAGATAATCTTACGTATTCTCACATCCTTGGCACTACAGGAAGCTAGCTTCTTCCCGCAAGGTTTACTCCAGCTCTAAGTTAGAGACAAAGGCCCACTTTTACCTCGAGGTAAAGTTTACAAGATTTCAGAACAGGAAGAAAATGAAGGTTTGGTTTTGTTTCGTTTCTTGAAAAGAAGTTAATAGTATGTCTTTCTCCTAGGATAAATAGCCATGCGTATTTTAAAAACTATATATAAAAGGAATGTGTAAGAAATAACCTCAACTCAAATTATTGTGGTAGAAGAAGAGGGGGGGTCAGACAGTGGAGGGGGGCACAGGGAAACCCAGCCACAGACTAAAGAGAAAGGTAAAAGAAGCAGTAGAGGAGAGAAACAAGGACGGGGAAAAAAAGAGGAGCGGAAAAGAGGGCTGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGCAGAAGAGAAGGAACGAGAACAAGGGAAAATCCCCCGGGAACACAGAAAGATAGAGACCCAGGGGACTCCCGCAGAGAGGGCCTCTTGGGCTTCAGCGCAGAGGAAAGTTTCCCGGGCACCCCCTCTCCTCCCCTGCCCTCCGCCGCCTGGGCCCTGCCCTGCGTGCCCCCAGGCCCAGCGCGCCTCCGGGCGAGTCCCCAGGAGCGCGGCCCAATGGATCGCTCCGGGCCCGCCCCCTCGCGCGCTGATTGGCCGCCGCCCCGCTGGCCTCGCCTTATTAGCAAGTTCTCTGGGGAGCCGCGGTAGGGCCCGGAGCCGGCGAGTGCTCCCGGGAACTCTGCCTGCGCGGCGGCAGCGACCGGAGGCCAGGCCCAGCACGCCGGAGCTGGCCTGCTGGGGAGGGGCGGGAGGCGCGCGCGGGAGGGTCCGCCCGGCCAGGGCCCCGGGCGCTCGCAGAGGCCGGCCGCGCTCCCAGCCCGCCCGGAGCCCATGCCCGGCGGCTGGCCAGTGCTGCGGCAGAAGGGGGGGCCCGGCTCTGCATGGCCCCGGCTGCTGACATGACTTCTTTGCCACTCGGTGTCAAAGTGGAGGACTCCGCCTTCGGCAAGCCGGCGGGGGGAGGCGCGGGCCAGGCCCCCAGCGCCGCCGCGGCCACGGCAGCCGCCATGGGCGCGGACGAGGAGGGGGCCAAGCCCAAAGTGTCCCCTTCGCTCCTGCCCTTCAGCGTGGAGGCGCTCAAGGCCGACCACAGGAAGCCGGGGGCCAAGGAGAGCGCCCTGGCGCCCTCCGAGGGCGTGCAGGCGGCGGGTGGCTCGGCGCAGCCACTGGGCGTCCCGCCGGGGTCGCTGGGAGCCCCGGACGCGCCCTCTTCGCCGCGGCCGCTCGGCCATTTCTCGGTGGGGGGACTCCTCAAGCTGCCAGAAGATGCGCTCGTCAAAGCCGAGAGCCCCGAGAAGCCCGAGAGGACCCCGTGGATGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGTGAGTAGCCAGAACCCAGGCGCAGAGGGAGGGGGCCGGGTGGGGGCCGGGTGGGGTGTGGGACCCGAGGGCTCCTGGTGGCCTCCGGCGCCTGCGTACCTGCAGCCGGTGCTAGGGAGCCGTGGGCTGCAAGGCCGGGTCTTGCGCCTCCCTCCACTCCCACCCAGGAAGAAGGTTCCAGACCTCCTCGCCTTGGCCCAGAGACGCTGCGGGTGGGAGTTAACGGATAGGACACCGATGTCTGGGCACCCTGTCCTCCTGCCCCCACCAAACGACCTCAGGGGTCCATGATCCCTCATCTGATCCCAAACTCTGTTTCATCGGCTTCACCCCAGCGGATGAATGTGTGTGGTGCGGTATCTTCCCTGCACCCGGAGTTTCACTTTCTCGCAGTAGGAGCTGGTGTCCCCCAGCCCCTCTTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAG
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Task1_train_8404
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The gene MSX1 (msh homeobox 1), on Chromosome 4, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Orofacial cleft 5
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ATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGATCAGCGGCCCAGAGATAGGGACATGTCATTGTTTCCGAGGACGCGTTGTTTGAGGTCACCTTAAGGCCAGATCGGTGTTTCATTGACGATTCTGTTGGTTTTATTTCAGTAAGTTCTATATCAAAAGGATCTGGCAGCTCCTTTCCCCGCCCGGGCGCTATAGGTGTTGTGACCCTTGGGACAGAAGTTCAGAGCGAGGGTGGGGGGGGGGGAATACACATCGTGTATGAAAACCGACTGCAGATTCTAGATAATCTTACGTATTCTCACATCCTTGGCACTACAGGAAGCTAGCTTCTTCCCGCAAGGTTTACTCCAGCTCTAAGTTAGAGACAAAGGCCCACTTTTACCTCGAGGTAAAGTTTACAAGATTTCAGAACAGGAAGAAAATGAAGGTTTGGTTTTGTTTCGTTTCTTGAAAAGAAGTTAATAGTATGTCTTTCTCCTAGGATAAATAGCCATGCGTATTTTAAAAACTATATATAAAAGGAATGTGTAAGAAATAACCTCAACTCAAATTATTGTGGTAGAAGAAGAGGGGGGGTCAGACAGTGGAGGGGGGCACAGGGAAACCCAGCCACAGACTAAAGAGAAAGGTAAAAGAAGCAGTAGAGGAGAGAAACAAGGACGGGGAAAAAAAGAGGAGCGGAAAAGAGGGCTGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGCAGAAGAGAAGGAACGAGAACAAGGGAAAATCCCCCGGGAACACAGAAAGATAGAGACCCAGGGGACTCCCGCAGAGAGGGCCTCTTGGGCTTCAGCGCAGAGGAAAGTTTCCCGGGCACCCCCTCTCCTCCCCTGCCCTCCGCCGCCTGGGCCCTGCCCTGCGTGCCCCCAGGCCCAGCGCGCCTCCGGGCGAGTCCCCAGGAGCGCGGCCCAATGGATCGCTCCGGGCCCGCCCCCTCGCGCGCTGATTGGCCGCCGCCCCGCTGGCCTCGCCTTATTAGCAAGTTCTCTGGGGAGCCGCGGTAGGGCCCGGAGCCGGCGAGTGCTCCCGGGAACTCTGCCTGCGCGGCGGCAGCGACCGGAGGCCAGGCCCAGCACGCCGGAGCTGGCCTGCTGGGGAGGGGCGGGAGGCGCGCGCGGGAGGGTCCGCCCGGCCAGGGCCCCGGGCGCTCGCAGAGGCCGGCCGCGCTCCCAGCCCGCCCGGAGCCCATGCCCGGCGGCTGGCCAGTGCTGCGGCAGAAGGGGGGGCCCGGCTCTGCATGGCCCCGGCTGCTGACATGACTTCTTTGCCACTCGGTGTCAAAGTGGAGGACTCCGCCTTCGGCAAGCCGGCGGGGGGAGGCGCGGGCCAGGCCCCCAGCGCCGCCGCGGCCACGGCAGCCGCCATGGGCGCGGACGAGGAGGGGGCCAAGCCCAAAGTGTCCCCTTCGCTCCTGCCCTTCAGCGTGGAGGCGCTCATGGCCGACCACAGGAAGCCGGGGGCCAAGGAGAGCGCCCTGGCGCCCTCCGAGGGCGTGCAGGCGGCGGGTGGCTCGGCGCAGCCACTGGGCGTCCCGCCGGGGTCGCTGGGAGCCCCGGACGCGCCCTCTTCGCCGCGGCCGCTCGGCCATTTCTCGGTGGGGGGACTCCTCAAGCTGCCAGAAGATGCGCTCGTCAAAGCCGAGAGCCCCGAGAAGCCCGAGAGGACCCCGTGGATGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGTGAGTAGCCAGAACCCAGGCGCAGAGGGAGGGGGCCGGGTGGGGGCCGGGTGGGGTGTGGGACCCGAGGGCTCCTGGTGGCCTCCGGCGCCTGCGTACCTGCAGCCGGTGCTAGGGAGCCGTGGGCTGCAAGGCCGGGTCTTGCGCCTCCCTCCACTCCCACCCAGGAAGAAGGTTCCAGACCTCCTCGCCTTGGCCCAGAGACGCTGCGGGTGGGAGTTAACGGATAGGACACCGATGTCTGGGCACCCTGTCCTCCTGCCCCCACCAAACGACCTCAGGGGTCCATGATCCCTCATCTGATCCCAAACTCTGTTTCATCGGCTTCACCCCAGCGGATGAATGTGTGTGGTGCGGTATCTTCCCTGCACCCGGAGTTTCACTTTCTCGCAGTAGGAGCTGGTGTCCCCCAGCCCCTCTTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAGCGAAGTGTTCCGGGGAAAGTGTAGAATTTGATTTGGATTCTATGCCACAAAACTGCCTAGCCCCACACTGAAGCACTCCGTGGGCACTGATAAATGTTTGGCCAACGCGTAAAACTAAATGTGCCCTTGGGCTGGGCGCAGGGCCTCTTTCTGCATGTTCGTCAA
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ATCTACAGCTTTTATTGCGCCCAGTTAAAAGTCGAGGGAATTCGCTGTCCCTCCGCGCTCGGATAATTACCCCTAAATGGCCACGGCAGCCCCTTGTGTTTCCTGGAGATTAGAACCCCGCAGTCATCAATGGCAGGGCCGAGTGAGCCGCCAATCACCTCCGCTCACTCCCTGAGAGCCGCTGGCCTGGGCCGCAGGAGGAGAGGCCATAAAGCGACAGGCGCAGAAAATGGCCAAGCCCCGACCCCGCTTCAGGCAGATCTTGCATCTCCCCTGACCCCAACTCATTTTTTCTGTCTTTATTATTATTATTATTATTAACAGCAAACATTAAATCACGTTTTCTCCGAAATTGGCAAAAGAAGAGTTCTCAAGTCCCACACTAGAGTCCACCTCCAGGAACTTTCCTCTTTTCCCAGCCCCCTCCCCCAAATGTGCCTCTCCCCTCCAGGATCAGCGGCCCAGAGATAGGGACATGTCATTGTTTCCGAGGACGCGTTGTTTGAGGTCACCTTAAGGCCAGATCGGTGTTTCATTGACGATTCTGTTGGTTTTATTTCAGTAAGTTCTATATCAAAAGGATCTGGCAGCTCCTTTCCCCGCCCGGGCGCTATAGGTGTTGTGACCCTTGGGACAGAAGTTCAGAGCGAGGGTGGGGGGGGGGGAATACACATCGTGTATGAAAACCGACTGCAGATTCTAGATAATCTTACGTATTCTCACATCCTTGGCACTACAGGAAGCTAGCTTCTTCCCGCAAGGTTTACTCCAGCTCTAAGTTAGAGACAAAGGCCCACTTTTACCTCGAGGTAAAGTTTACAAGATTTCAGAACAGGAAGAAAATGAAGGTTTGGTTTTGTTTCGTTTCTTGAAAAGAAGTTAATAGTATGTCTTTCTCCTAGGATAAATAGCCATGCGTATTTTAAAAACTATATATAAAAGGAATGTGTAAGAAATAACCTCAACTCAAATTATTGTGGTAGAAGAAGAGGGGGGGTCAGACAGTGGAGGGGGGCACAGGGAAACCCAGCCACAGACTAAAGAGAAAGGTAAAAGAAGCAGTAGAGGAGAGAAACAAGGACGGGGAAAAAAAGAGGAGCGGAAAAGAGGGCTGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGGCAGAAGAGAAGGAACGAGAACAAGGGAAAATCCCCCGGGAACACAGAAAGATAGAGACCCAGGGGACTCCCGCAGAGAGGGCCTCTTGGGCTTCAGCGCAGAGGAAAGTTTCCCGGGCACCCCCTCTCCTCCCCTGCCCTCCGCCGCCTGGGCCCTGCCCTGCGTGCCCCCAGGCCCAGCGCGCCTCCGGGCGAGTCCCCAGGAGCGCGGCCCAATGGATCGCTCCGGGCCCGCCCCCTCGCGCGCTGATTGGCCGCCGCCCCGCTGGCCTCGCCTTATTAGCAAGTTCTCTGGGGAGCCGCGGTAGGGCCCGGAGCCGGCGAGTGCTCCCGGGAACTCTGCCTGCGCGGCGGCAGCGACCGGAGGCCAGGCCCAGCACGCCGGAGCTGGCCTGCTGGGGAGGGGCGGGAGGCGCGCGCGGGAGGGTCCGCCCGGCCAGGGCCCCGGGCGCTCGCAGAGGCCGGCCGCGCTCCCAGCCCGCCCGGAGCCCATGCCCGGCGGCTGGCCAGTGCTGCGGCAGAAGGGGGGGCCCGGCTCTGCATGGCCCCGGCTGCTGACATGACTTCTTTGCCACTCGGTGTCAAAGTGGAGGACTCCGCCTTCGGCAAGCCGGCGGGGGGAGGCGCGGGCCAGGCCCCCAGCGCCGCCGCGGCCACGGCAGCCGCCATGGGCGCGGACGAGGAGGGGGCCAAGCCCAAAGTGTCCCCTTCGCTCCTGCCCTTCAGCGTGGAGGCGCTCATGGCCGACCACAGGAAGCCGGGGGCCAAGGAGAGCGCCCTGGCGCCCTCCGAGGGCGTGCAGGCGGCGGGTGGCTCGGCGCAGCCACTGGGCGTCCCGCCGGGGTCGCTGGGAGCCCCGGACGCGCCCTCTTCGCCGCGGCCGCTCGGCCATTTCTCGGTGGGGGAACTCCTCAAGCTGCCAGAAGATGCGCTCGTCAAAGCCGAGAGCCCCGAGAAGCCCGAGAGGACCCCGTGGATGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGTGAGTAGCCAGAACCCAGGCGCAGAGGGAGGGGGCCGGGTGGGGGCCGGGTGGGGTGTGGGACCCGAGGGCTCCTGGTGGCCTCCGGCGCCTGCGTACCTGCAGCCGGTGCTAGGGAGCCGTGGGCTGCAAGGCCGGGTCTTGCGCCTCCCTCCACTCCCACCCAGGAAGAAGGTTCCAGACCTCCTCGCCTTGGCCCAGAGACGCTGCGGGTGGGAGTTAACGGATAGGACACCGATGTCTGGGCACCCTGTCCTCCTGCCCCCACCAAACGACCTCAGGGGTCCATGATCCCTCATCTGATCCCAAACTCTGTTTCATCGGCTTCACCCCAGCGGATGAATGTGTGTGGTGCGGTATCTTCCCTGCACCCGGAGTTTCACTTTCTCGCAGTAGGAGCTGGTGTCCCCCAGCCCCTCTTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAGCGAAGTGTTCCGGGGAAAGTGTAGAATTTGATTTGGATTCTATGCCACAAAACTGCCTAGCCCCACACTGAAGCACTCCGTGGGCACTGATAAATGTTTGGCCAACGCGTAAAACTAAATGTGCCCTTGGGCTGGGCGCAGGGCCTCTTTCTGCATGTTCGTCAA
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Task1_train_8405
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With a mutation on Chromosome 4 in gene MSX1 (msh homeobox 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Tooth agenesis, selective, 1
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TTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAGCGAAGTGTTCCGGGGAAAGTGTAGAATTTGATTTGGATTCTATGCCACAAAACTGCCTAGCCCCACACTGAAGCACTCCGTGGGCACTGATAAATGTTTGGCCAACGCGTAAAACTAAATGTGCCCTTGGGCTGGGCGCAGGGCCTCTTTCTGCATGTTCGTCAACTGTATTAACATCCACCTTTCCTCTGGATGGCCCTGGGAGGAGGCCCGCCATGAAGGCCTTCCTAAGCCGCCGGGCAGCACAAAGGTGATTTCACATCTTCCCAGCTGTTTAGGCCTAAGATGTGGACATCGAGCCTTCAACGTGGGTATTTTTCTCCTGGAATCTTAGTTTCTTCATTTGCAAAAAGTAGACAGGAACTTCTCCCCTGCGGGGTTGCAATGGGAATTGGAGAAAATATATTTCAAGTGCCTTGCGCGATGCCCGGCACCGAGGCACTTGGCGGCACTCAATATCTGGTATTGTTTGGCTATTATTACTACTTCTTGGGCTGATCATGCTCCAATGCTTCTCTCTTAACCCCTTGCTTTTTTTTTCTTTCGGCCCTCAGGGCGGCTGAGCCCCCCAGCCTGCACCCTCCGCAAACACAAGACGAACCGTAAGCCGCGGACGCCCTTCACCACCGCGCAGCTGCTGGCGCTGGAGCGCAAGTTCCGCCAGAAGCAGTACCTGTCCATCGCCGAGCGCGCGGAGTTCTCCAGCTCGCTCAGCCTCACTGAGACGCAGGTGAAGATATGGTTCCAGAACCGCCGCGCCAAGGCAAAGAGACTACAAGAGGCAGAGCTGGAGAAGCTGAAGATGGCCGCCAAGCCCATGCTGCCACCGGCTGCCTTCGGCCTCTCCTTCCCTCTCGGCGGCCCCGCAGCTGTAGCGGCCGCGGCGGGTGCCTCGCTCTACGGTGCCTCTGGCCCCTTCCAGCGCGCCGCGCTGCCTGTGGCGCCCGTGGGACTCTACACGGCCCATGTGGGCTACAGCATGTACCACCTGACATAGAGGGTCCCAGGTCGCCCACCTGTGGGCCAGCCGATTCCTCCAGCCCTGGTGCTGTACCCCCGACGTGCTCCCCTGCTCGGCACCGCCAGCCGCCTTCCCTTTAACCCTCACACTGCTCCAGTTTCACCTCTTTGCTCCCTGAGTTCACTCTCCGAAGTCTGATCCCTGCCAAAAAGTGGCTGGAAGAGTCCCTTAGTACTCTTCTAGCATTTAGATCTACACTCTCGAGTTAAAGATGGGGAAACTGAGGGCAGAGAGGTTAACAGATTTATCTAAGGTCCCCAGCAGAATTGACAGTTGAACAGAGCTAGAGGCCATGTCTCCTGCATAGCTTTTCCCTGTCCTGACACCAGGCAAGAAAAGCGCAGAGAAATCGGTGTCTGACGATTTTGGAAATGAGAACAATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAAAAAAAAGACTAGCCAGCCAGGAAGATGAATCCTAGCTTCTTCCATTGGAAAATTTAAGACAAGTTCAACAACAAAACATTTGCTCTGGGGGGCAGGGAAAACACAGATGTGTTGCAAAGGTAGGTTGAAGGGACCTCTCTCTTACCAGTACCAGAAACACAATTGTAAAATTAAAAAAAAAAAAAAACTCTTTCTATTTAACAGTACATTTGTGTGGCTCTCAAACATCCCTTTGGAAGGGATTGTGTGTACTATGTAATATACTGTATATTTGAAATTTTATTATCATTTATATTATAGCTATATTTGTTAAATAAATTAATTTTAAGCTACAAAAATTATCTCTTTACTGATTGAGTCTTTTATTTTAATTTTGCTTCTTGCTATCTCTTTATGTGTACAGTTGCTTTTCAGTTTGACGGTACTTTTACGACAGCAACTTTGAAAGGTGATAACAGGGTATGCAGGGATAGAGGGGGGTGTCTTTTTGAACACCCACGACAGATCTGCATTAGGAAAGTCAAGTGGAGAGTTGAAGTAATTACCTAGGATAATTAGGCTCAATTTTCCAATTCACTTTAAGCTGAAATCGACACTTACTCGGGCAACCTATAACCAACTCTTGCTTTCTTTCTCTCCTTTTAACCTGTCTATGAAAACAAAGCAAATCGCCCAAATGGTTTGATGAGTGTGGACAGCTAATCCAGACAATTCCCACCTCCGCAAATCTGTTTTTCCCACGGGAGGCCAGGTGGGGGATGGAAGCGATTGCGTTGCCTCTCTAAATTACCCCCACTGTAGACGCGGTTTGTGGAACTAATTTTGAGCTGCCAGAATATAAGAACCTTCTCACCCCCTATTCTGGCCGCTAAAAACACAACACAACCTAACAAAGTTTACAGAAAACCCAGGGCCACCTTCCACTCTCGCCTGGAAAGTCCTCTGCAGGAGCCCTGTTTCCAAACCCTCACAAACTCGGTTTTTCTTAAGATCAGTCTTCCAGGAGAATATATTTGCACACGCGCCAAGTTTAGCTTTCCGGGGAATTCTGCAAGGACGCCGAATGCAGAAAATTACCCCCTGATTAAATAAAGCCTATTAAGCTCCAGGCACCGCTCTGTTGTCTTTCGTGTTCGGGCGGCGGCAGACCTGCGCATCCCTCTCCTCCTTCAGCCTCTGTCCCGCGGTGACCCGCTCCTCCAAATTCCACGCAGGATAGCGCCGGACAGTCTGCAGTAAGCCGTTAAGCCGGAGGTCAGTAGACTAAAGATGGTTCGAAACCTGG
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TTCCCTTTCAAGTACCTCTTTGCCTAGAGGTTCCGAAGCTCCTACAGAATTCTACCTCCCCATGCCCTTTGAGTTTGAGGCAGATAGTTGGTGCTTTGGGCGGATGGATGATTCAGGGGTGGGGACATTCAGGTTCCAGTGGAGGGGGCGGGGCACCAAGTCAATTAGGGGAAGGCGCCCCCGCTAATCCTATGGGAAGCTCCCAAACGTCTAGGACTGAGCCATTAAAGTGGACTCCAGGTGCCCAAGGCGGTTCGCTCCAAGGCCTCACGGCCCCCTGGCTGCTCTACTCAGAGAACACGCTCGGAGATATTTCAGGAGCACGGGAAATTCCCAAGTTTTCCTCGTTTCCTCCGATTATTTTGCTCGGCATAATAGCAGCCAGATTTCAATGGCGTGATGCTGAGGAATGATTTTTATCTGGGGATTAAACGTCTTTGAAAGGCCAGTCCCTCCCTAAGCCTAATGGCCGGAGAAGGTGGCCCCGCTCTGGGTTGTCGCCGCTGAAGGGAGTGACGTTTCTCTCGGCGCCCGCCCCTCGGGCGGCCCGGCGGAAAGCTAGTTGGGGGCCAAGCGCTTCCCGGACTCCCGGTGGCCTCCAGCAGGGAAGAAGCGGGGTGTTAACACGAGATTTCGTTTGACTCACATCCTGGTGGTCTGAAAGTCCAAAGGATCGTTGTGTTTTCTTTGTTTTGTTTTGTTTTTTCTGTTTGTTTGTGGTTGTTTTTTAGAGAGGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAAAGTGTCCTTTCCAACGCTTAGGGCCTTGGGCCCCAAGACCCCGAAGTCAAAGCGATCCCGGCTGTGTTGGGATAATTTGTTCCACATTTTATCCGGGGGCAGTCCCCAGCAGACCCCATCCCCGACCTGCACTAGTCCTGCGCTCTGATGCTTCTTCACTGTCCACCCTTGAGGTTTATTTTGAAGCCAAAAGAAAAAGACAGCTGGGCATGTTGATGTCTGCTGACTATGCCACAGGTTGAGGGGAGAGGCGATCTCAACACTCCCCCCGCAACAACATCAACACACACACACACACACACACACAAACGTTTGAGTGGGGCCAGAGGGCCCTGGCGCCAGGGGTGAACGCGATCCAACAGAGGACTGAGACAATCTAAAGAAAAAGCCCATTAGAATAAAGCAGCCCCTCGTTCTCCGCTCCAGATGACACTTTCTGTTTCTAAGAGGGCTGGCCACAGTGCACCCTCCATGATGGTCTGCGCTGCTCCATCTCTGGTCTGCGGGAACTACTCCTAGAATCCCGTAGGAGCGAAGTGTTCCGGGGAAAGTGTAGAATTTGATTTGGATTCTATGCCACAAAACTGCCTAGCCCCACACTGAAGCACTCCGTGGGCACTGATAAATGTTTGGCCAACGCGTAAAACTAAATGTGCCCTTGGGCTGGGCGCAGGGCCTCTTTCTGCATGTTCGTCAACTGTATTAACATCCACCTTTCCTCTGGATGGCCCTGGGAGGAGGCCCGCCATGAAGGCCTTCCTAAGCCGCCGGGCAGCACAAAGGTGATTTCACATCTTCCCAGCTGTTTAGGCCTAAGATGTGGACATCGAGCCTTCAACGTGGGTATTTTTCTCCTGGAATCTTAGTTTCTTCATTTGCAAAAAGTAGACAGGAACTTCTCCCCTGCGGGGTTGCAATGGGAATTGGAGAAAATATATTTCAAGTGCCTTGCGCGATGCCCGGCACCGAGGCACTTGGCGGCACTCAATATCTGGTATTGTTTGGCTATTATTACTACTTCTTGGGCTGATCATGCTCCAATGCTTCTCTCTTAACCCCTTGCTTTTTTTTTCTTTCGGCCCTCAGGGCGGCTGAGCCCCCCAGCCTGCACCCTCCGCAAACACAAGACGAACCGTAAGCCGCGGACGCCCTTCACCACCGCGCAGCTGCTGGCGCTGGAGCGCAAGTTCCGCCAGAAGCAGTACCTGTCCATCGCCGAGCCCGCGGAGTTCTCCAGCTCGCTCAGCCTCACTGAGACGCAGGTGAAGATATGGTTCCAGAACCGCCGCGCCAAGGCAAAGAGACTACAAGAGGCAGAGCTGGAGAAGCTGAAGATGGCCGCCAAGCCCATGCTGCCACCGGCTGCCTTCGGCCTCTCCTTCCCTCTCGGCGGCCCCGCAGCTGTAGCGGCCGCGGCGGGTGCCTCGCTCTACGGTGCCTCTGGCCCCTTCCAGCGCGCCGCGCTGCCTGTGGCGCCCGTGGGACTCTACACGGCCCATGTGGGCTACAGCATGTACCACCTGACATAGAGGGTCCCAGGTCGCCCACCTGTGGGCCAGCCGATTCCTCCAGCCCTGGTGCTGTACCCCCGACGTGCTCCCCTGCTCGGCACCGCCAGCCGCCTTCCCTTTAACCCTCACACTGCTCCAGTTTCACCTCTTTGCTCCCTGAGTTCACTCTCCGAAGTCTGATCCCTGCCAAAAAGTGGCTGGAAGAGTCCCTTAGTACTCTTCTAGCATTTAGATCTACACTCTCGAGTTAAAGATGGGGAAACTGAGGGCAGAGAGGTTAACAGATTTATCTAAGGTCCCCAGCAGAATTGACAGTTGAACAGAGCTAGAGGCCATGTCTCCTGCATAGCTTTTCCCTGTCCTGACACCAGGCAAGAAAAGCGCAGAGAAATCGGTGTCTGACGATTTTGGAAATGAGAACAATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAAAAAAAAGACTAGCCAGCCAGGAAGATGAATCCTAGCTTCTTCCATTGGAAAATTTAAGACAAGTTCAACAACAAAACATTTGCTCTGGGGGGCAGGGAAAACACAGATGTGTTGCAAAGGTAGGTTGAAGGGACCTCTCTCTTACCAGTACCAGAAACACAATTGTAAAATTAAAAAAAAAAAAAAACTCTTTCTATTTAACAGTACATTTGTGTGGCTCTCAAACATCCCTTTGGAAGGGATTGTGTGTACTATGTAATATACTGTATATTTGAAATTTTATTATCATTTATATTATAGCTATATTTGTTAAATAAATTAATTTTAAGCTACAAAAATTATCTCTTTACTGATTGAGTCTTTTATTTTAATTTTGCTTCTTGCTATCTCTTTATGTGTACAGTTGCTTTTCAGTTTGACGGTACTTTTACGACAGCAACTTTGAAAGGTGATAACAGGGTATGCAGGGATAGAGGGGGGTGTCTTTTTGAACACCCACGACAGATCTGCATTAGGAAAGTCAAGTGGAGAGTTGAAGTAATTACCTAGGATAATTAGGCTCAATTTTCCAATTCACTTTAAGCTGAAATCGACACTTACTCGGGCAACCTATAACCAACTCTTGCTTTCTTTCTCTCCTTTTAACCTGTCTATGAAAACAAAGCAAATCGCCCAAATGGTTTGATGAGTGTGGACAGCTAATCCAGACAATTCCCACCTCCGCAAATCTGTTTTTCCCACGGGAGGCCAGGTGGGGGATGGAAGCGATTGCGTTGCCTCTCTAAATTACCCCCACTGTAGACGCGGTTTGTGGAACTAATTTTGAGCTGCCAGAATATAAGAACCTTCTCACCCCCTATTCTGGCCGCTAAAAACACAACACAACCTAACAAAGTTTACAGAAAACCCAGGGCCACCTTCCACTCTCGCCTGGAAAGTCCTCTGCAGGAGCCCTGTTTCCAAACCCTCACAAACTCGGTTTTTCTTAAGATCAGTCTTCCAGGAGAATATATTTGCACACGCGCCAAGTTTAGCTTTCCGGGGAATTCTGCAAGGACGCCGAATGCAGAAAATTACCCCCTGATTAAATAAAGCCTATTAAGCTCCAGGCACCGCTCTGTTGTCTTTCGTGTTCGGGCGGCGGCAGACCTGCGCATCCCTCTCCTCCTTCAGCCTCTGTCCCGCGGTGACCCGCTCCTCCAAATTCCACGCAGGATAGCGCCGGACAGTCTGCAGTAAGCCGTTAAGCCGGAGGTCAGTAGACTAAAGATGGTTCGAAACCTGG
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Task1_train_8406
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Assess the clinical impact of this variant on gene EVC2 (EvC ciliary complex subunit 2), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Ellis-van Creveld syndrome
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TACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAAAAATATATGCTGTGCAGGTTTCTTCAGTAATAAGTTAATCTTGGCTTACTGTAATTTTTTATTTTTTATTTTATTTTATTTTACTTTAAGTTCTGGGATACATATGCAGAACGTGCAGGTTTGTTACATAGGTATACATGTGTCATGGTGGTTTGCTGCACCTATCAACCTGTCATCTAGGTTTTAAGCCCCACATGTAATTGCCCTTGCCCCCCATCCCCCGACAGGTCCCAGTGTGTGATGTTCCCCTCCCTGTGACTTTATTACCTTTGTAATTTTTTTTTTAACATTTTGACTCTTTGGTAATAACACAGCTTAAAACACAAACACACTGTACAGCTATACAAAAATAGTTCCTTTCTTTATATCCTTACTCTGTAAGCTTTCTATATTTTTAAGGTATTTTTTTAAAACACTTCTTAAACTTTTTGTTAAAAACTAAGACACACATTAGCCTAGTCCTGCACAGCATCAGGATCATCAATATCACTGCCTTCCACCCCGACACTCTGTCCCACTGGAAGGTCTTCAGAGGCAATAACAGGCATGGACCTGTCATCTCCTAGGATAACAATGCCTTATTCTAGAATCCCTCCTGACGGACCTGCCTGAGGCTGATTTATAGGTAAGCTTATTTCGGATTTGATCAGTGGAAGGGATACACTCTAAAATAACAATAAAAAGTATGTATAGTAAATACGTAAACCAGCAACATAGTCTTTTAGTGTCATTATCAAGTATTATGTTTTGTACATAATGGTATGTGCTAGACTTGTTATGATTGGCAGCACAGTAGGTTTCACACCAGAATCACCAAACAGGTGAGTAAACGCACCATGCTACGATGGATATTACACAACCACATTATCACTAGGTGACAGGAATTTTTCAGCTGCATTGTAATCCTGCGGGACCACCTTCATATATGCAGTCCACTGTTCACCAAAATGTCATTATGTGGCGCGTGACTGTATATGTAAGTCCCGTGAGTCACCCTAGAGAATCACCGAACCCGGGGGTGGGTGTTGGGGACCCTGACATTCTAGCCATGGGATACTGGGCAAATCACTTGACTTTAATGTGCCTCGGTTTCCCCATCTGAAATGGCAGAGATTTTAAAATAGAATCTGTCTCACAAGACTGTGGTAAAGATGACATAATTCCACATAAGTAAATTGCTTAGAATGCTTGGCACCCAGTTTTAAGAAACGTGAAGTGTTGTTACCTGGTGAATTAACACTTGGTGAATACATGAGTGAGTGAACATGTGAGCTGCAAATGATTAAACTGAAGAACAGAAATGGAGAAGTATTATGGTGAAGAGCAGAAGCAGAGAGACCCGCCCCACAGACTGCAGGCTTTGGGAAGATCTGGGAAAACACAATGTCACCAGCAGCTTGACCTAGTGGCAAACACTGGGGATAGGTAGGAGCGTGACTGGACAGTAGCACAGACGGGCTGTGGAGCCTCAGCCTGTCCAGCCCACGGCCTACCTGCCTTGTCCAGGTGGAGGGTCATCCAGGGAAACCAGTCAGATAGCCTCAGGGCACACGGGGGACCCGAGAGACTGCACAGAGTCCCAGTCTCAACGCATAACTGGGGGACCAAGGCCAGCAGCTGGCCGCTCCCCATGGCTCCAAGGACAGGCAGGACCCACACAGCACAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTCTGCTGTTATGGAAAAAAGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACATTTGGTGCGATTTCCAACCCTCCAAGCCTGGAGCTACAATCAGCCCTAACTGCTGCACAGGTCAGAGCTTGTGAAGGTCTCACCATCAGGAGGAAGGGGCTTTGGGGATAGGATCCCTCCCTCTCTACTGGAGGCCGTGTGAAATCCAAACACCAGCTTCGCTAACATCCAGAGAAAGTCATGGCAGCATGCCCTTGTGGAGAAACGCTTGGGGTTGGGCACTGACTCCAAGCCTGTGACCAAGGCAGGTCACCTCCACTCTCCCAGCGTCTGCCTCCTTCACAGAGGTAGATGGAATCCTGGGCTCTGACTGCACTGCACGTGTTCTTCTCTCACTCAAACGCACTTGATTCTCCAAGCCCCAACCCGCTGTGGGTCTATTCCTAATGCTCTCTAATATTCCTCTGCTGAGAAGATACAGGAAACAGAAAAATAAAGTGTGTCATGGTATCCACCTGTCTAACCGCATGGTGACCGACAAGACCCACCGTGAGAACATACTTCTTCCTGGGGGTAAAGGCAGAATAGCTTGCCACTGACAGGCTGTCTATAGGGTGGTGGTTAGGGCCAGGCTGTCTAAGTTCATACAGGGCCCCACTGCTCACCAGCAGTTGGACCTTGGGCAAGGTATTAGCCTCTCTGTGCCTCTGTTTTCTCATCTGTGAAATGGTAATCATATTCAACTCACAGAATTGCTATGAAGATTAACTTAGGTAATATAGAACCCTGAAGAGTGCCTGGCACTAGGGAATGCTATAAAATATTACTGCTATTGGTGGCTGTAGGTAGTAGTAGTAACATTAGCAGCAGCAGCAGCAGTAGTAGCAATAGCAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTAGTGAAACCCCATCTCTACTAAAAATCAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGCTGTCTCAAAAAAAAAAAATAATAATAATAATAAAATTTTTTAAAAGCAATAGCAATAGTAGTAGCAGTAGTATCATTATATAGAACCAGACTGGCTGGGCGCTGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCCAGACTGCGCCATTACACTCCAGCCTGGGCGACAGGAGTGAAACGCTGTCTCAAAAAAAAAAAAAAAAGAACCAGACCTTGGGACTTAGAGCTTGCAGCCCAGTGAGCTCAGCAACCCATGTAATTCTCATTACAGACGCGACTAAGGCATTTTTCTGTAACCTGAGCTATGCTCCTCCCAAGGTAGCAAATCCCCGATCCATGCCCTACAGATGTTATGGCAGCAGTGCTAGGAAGCAGTGGGACTTCCCAAATCCACTGTGGGCCAGCAGGCAACCTCATGGAGGCTTCAGCGAAAATCAAAATACCGTAAGTCCTCTTTTCATAGGAGGGAAATGGAACAGTTTTAGAATATGACTCTAAAGAAGAGACACCTCTGAGGCATTCATTCCCTTGGCCTTTTCCATTCTTGAGTTACCTCTGCTTTGGAATACGTACGGTGCCTTGGAGTCTCAGGGTCTCCTGAGCTGGAGCCTGAGGCTAAGTTCAGAGCCCACATTCTAGTACATTCTGCTGTGTTCC
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TACATTTATTTATTTATGTTGAGACAGAGTCTCACTCTGTTAACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCGCATGTCTCAGTCTCCCGAGTAGCTGGAATCACAGACACGCACCACCATGCTCAGCTAATTTTTTTTGTATTTTTAGTAAAGACCGGTTTAGCCATGTTGGCCAGGCTGATCTTGAACTCCTGGCTTCAAGTGATCAGCCCACCTCAGCCTCCCAAAGTACTGAGATTACAGGCATGAGCCACTATGCCTGGCCACTAAATTTATTTTAAAAATATATGCTGTGCAGGTTTCTTCAGTAATAAGTTAATCTTGGCTTACTGTAATTTTTTATTTTTTATTTTATTTTATTTTACTTTAAGTTCTGGGATACATATGCAGAACGTGCAGGTTTGTTACATAGGTATACATGTGTCATGGTGGTTTGCTGCACCTATCAACCTGTCATCTAGGTTTTAAGCCCCACATGTAATTGCCCTTGCCCCCCATCCCCCGACAGGTCCCAGTGTGTGATGTTCCCCTCCCTGTGACTTTATTACCTTTGTAATTTTTTTTTTAACATTTTGACTCTTTGGTAATAACACAGCTTAAAACACAAACACACTGTACAGCTATACAAAAATAGTTCCTTTCTTTATATCCTTACTCTGTAAGCTTTCTATATTTTTAAGGTATTTTTTTAAAACACTTCTTAAACTTTTTGTTAAAAACTAAGACACACATTAGCCTAGTCCTGCACAGCATCAGGATCATCAATATCACTGCCTTCCACCCCGACACTCTGTCCCACTGGAAGGTCTTCAGAGGCAATAACAGGCATGGACCTGTCATCTCCTAGGATAACAATGCCTTATTCTAGAATCCCTCCTGACGGACCTGCCTGAGGCTGATTTATAGGTAAGCTTATTTCGGATTTGATCAGTGGAAGGGATACACTCTAAAATAACAATAAAAAGTATGTATAGTAAATACGTAAACCAGCAACATAGTCTTTTAGTGTCATTATCAAGTATTATGTTTTGTACATAATGGTATGTGCTAGACTTGTTATGATTGGCAGCACAGTAGGTTTCACACCAGAATCACCAAACAGGTGAGTAAACGCACCATGCTACGATGGATATTACACAACCACATTATCACTAGGTGACAGGAATTTTTCAGCTGCATTGTAATCCTGCGGGACCACCTTCATATATGCAGTCCACTGTTCACCAAAATGTCATTATGTGGCGCGTGACTGTATATGTAAGTCCCGTGAGTCACCCTAGAGAATCACCGAACCCGGGGGTGGGTGTTGGGGACCCTGACATTCTAGCCATGGGATACTGGGCAAATCACTTGACTTTAATGTGCCTCGGTTTCCCCATCTGAAATGGCAGAGATTTTAAAATAGAATCTGTCTCACAAGACTGTGGTAAAGATGACATAATTCCACATAAGTAAATTGCTTAGAATGCTTGGCACCCAGTTTTAAGAAACGTGAAGTGTTGTTACCTGGTGAATTAACACTTGGTGAATACATGAGTGAGTGAACATGTGAGCTGCAAATGATTAAACTGAAGAACAGAAATGGAGAAGTATTATGGTGAAGAGCAGAAGCAGAGAGACCCGCCCCACAGACTGCAGGCTTTGGGAAGATCTGGGAAAACACAATGTCACCAGCAGCTTGACCTAGTGGCAAACACTGGGGATAGGTAGGAGCGTGACTGGACAGTAGCACAGACGGGCTGTGGAGCCTCAGCCTGTCCAGCCCACGGCCTACCTGCCTTGTCCAGGTGGAGGGTCATCCAGGGAAACCAGTCAGATAGCCTCAGGGCACACGGGGGACCCGAGAGACTGCACAGAGTCCCAGTCTCAACGCATAACTGGGGGACCAAGGCCAGCAGCTGGCCGCTCCCCATGGCTCCAAGGACAGGCAGGACCCACACAGCACAGGTGTGTCCTGAGGGTGCTCAGGGCATGTCATGTCTCTTACCGTTACGTTTTCTTCTGCTGTTCTGGAAAAAAGCACTTTCAGCTGTGTTCTGTTCTAGAAAAGGAAAAAAGAAAACACTTTCAGCAACAGTTTGGGGTCTGACACGTGGGATAACATTTGGTGCGATTTCCAACCCTCCAAGCCTGGAGCTACAATCAGCCCTAACTGCTGCACAGGTCAGAGCTTGTGAAGGTCTCACCATCAGGAGGAAGGGGCTTTGGGGATAGGATCCCTCCCTCTCTACTGGAGGCCGTGTGAAATCCAAACACCAGCTTCGCTAACATCCAGAGAAAGTCATGGCAGCATGCCCTTGTGGAGAAACGCTTGGGGTTGGGCACTGACTCCAAGCCTGTGACCAAGGCAGGTCACCTCCACTCTCCCAGCGTCTGCCTCCTTCACAGAGGTAGATGGAATCCTGGGCTCTGACTGCACTGCACGTGTTCTTCTCTCACTCAAACGCACTTGATTCTCCAAGCCCCAACCCGCTGTGGGTCTATTCCTAATGCTCTCTAATATTCCTCTGCTGAGAAGATACAGGAAACAGAAAAATAAAGTGTGTCATGGTATCCACCTGTCTAACCGCATGGTGACCGACAAGACCCACCGTGAGAACATACTTCTTCCTGGGGGTAAAGGCAGAATAGCTTGCCACTGACAGGCTGTCTATAGGGTGGTGGTTAGGGCCAGGCTGTCTAAGTTCATACAGGGCCCCACTGCTCACCAGCAGTTGGACCTTGGGCAAGGTATTAGCCTCTCTGTGCCTCTGTTTTCTCATCTGTGAAATGGTAATCATATTCAACTCACAGAATTGCTATGAAGATTAACTTAGGTAATATAGAACCCTGAAGAGTGCCTGGCACTAGGGAATGCTATAAAATATTACTGCTATTGGTGGCTGTAGGTAGTAGTAGTAACATTAGCAGCAGCAGCAGCAGTAGTAGCAATAGCAGGCCGGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCAAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTAGTGAAACCCCATCTCTACTAAAAATCAAAAATTAGCTGGGTGTGGTGGCGGGCACCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGTGAAATGCTGTCTCAAAAAAAAAAAATAATAATAATAATAAAATTTTTTAAAAGCAATAGCAATAGTAGTAGCAGTAGTATCATTATATAGAACCAGACTGGCTGGGCGCTGTGGCTCACACTTGTAATCTCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGGGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCCAGACTGCGCCATTACACTCCAGCCTGGGCGACAGGAGTGAAACGCTGTCTCAAAAAAAAAAAAAAAAGAACCAGACCTTGGGACTTAGAGCTTGCAGCCCAGTGAGCTCAGCAACCCATGTAATTCTCATTACAGACGCGACTAAGGCATTTTTCTGTAACCTGAGCTATGCTCCTCCCAAGGTAGCAAATCCCCGATCCATGCCCTACAGATGTTATGGCAGCAGTGCTAGGAAGCAGTGGGACTTCCCAAATCCACTGTGGGCCAGCAGGCAACCTCATGGAGGCTTCAGCGAAAATCAAAATACCGTAAGTCCTCTTTTCATAGGAGGGAAATGGAACAGTTTTAGAATATGACTCTAAAGAAGAGACACCTCTGAGGCATTCATTCCCTTGGCCTTTTCCATTCTTGAGTTACCTCTGCTTTGGAATACGTACGGTGCCTTGGAGTCTCAGGGTCTCCTGAGCTGGAGCCTGAGGCTAAGTTCAGAGCCCACATTCTAGTACATTCTGCTGTGTTCC
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Task1_train_8407
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The gene JAKMIP1 (janus kinase and microtubule interacting protein 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Smith-Magenis Syndrome-like
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GATGGCAGGGCTTAAGAAGATGCTCTGGGGTGAGACTGAAGGAAAGAGGGAGGGCTGGGCACTAATTCAATCAATTTCCATGAAGCCCTAACCTGACTAACCTAGGTTTGAAACAGTCTAGTAAGAAAACCTTATTTCCCTTATTAGCCAAAATTTAAAAAAATAAAATAAAAAAAAAACAAGCAAAAAAACAAATTTCATGATGGTTCCATTCCACAGATGACTTTCTACCAGCAAATTTACTTAAATGGCGTCCCCATAGAAAAAGTGGCCCCCAAAACTCAGATTTTATATGAACAAAAGTCATTTTGTAGGCCGGGCATGGTAGCTTATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCCCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCTGTGTCTACTAAAAATACAAAAATTAGCTGGGTGAGGAGGTGTGTGCCTGTGATCCCAGCTACTAGGGAGGTTGAGGCCGGAGAATCACTCACACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGAGTGCACCACGCCACTGTCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCCTAAAAAAAAAAAAAAAAAAAAAAAAGCCATTTTGTTTCTGGTGGTTCTGAAGGATGGTGGAGACCATTAAAGAAAACTCTAGTAAACTGGGTAGTGCTTATAGAATTCTCATGAGAAAGACTCATAACAAGGATTTGTGAAAGGTTCTCTAACAGCGGCAGGAGTATTAACAATGACCTCACATAACTTCCAATTCTGTCGCACAAATAAAATGCTCATGTCATGCTGAGCCAAGAGCTGAGTCACTCTTGGTGTGAGAAATACTCAGGCCACAGGTCCCTGCCCACACGACAAGGTACACACGGTCAGTTCTAATGCAGACAGAATTGTAACTCAAGCCGGCAGGAGAAAACAAAATTGGGGAAGCCACAGACACTGTGAAGGTGCTCACTTTGAGGGTTTCACGCATGCAAAGGTTTCAGCTGAGAGACAGCAGAGCTGCGCCACTACAGGTGCTTAGAGAAACTCATCACAAACTTAAGTGATGTTTAAAATGCCAATGATTTTTCAACAGAAACAAAAAAAAGGATTATGAAGTACCATGAGAGCAAGGCAATACAGTAACACACCCGAGGTAAGATTTCAGCTGGAAGCAGTAAGACCATTAGTATTCTTTCACTGAATCTCACTCGGTGCATTGGGGCAGTTCCTGAAGGAACAGGATTTCTACATGTGAACAGCAACTGATCTCCCTCCAGTAGTTTTGAGGTGCAGTTTGAGTTGCAAATAGTAATTTCTTTAGTCCAATATTGCTGCAATGCCTGGGTCTGTATTTACTGGATAAAAGAGTTTGAACAACGTAACTAGTTTTCTTAAACGCCTATGCAAATACATCCTTCTACCCTGTCTTTACTTACCTTGTGTTTACCTTGGCAAATAGAAAATGGGCCCAAACTGGCATTAAACACATTCTAGAGTCAATTGCTGGCTCAGGTCAGACTCTGCTATTTCAAAAGGTGAGATTTACTGCATGCAAGATCACTTAAAAAGGTGTGTTATTAATTGCAACAGTGCTTCCGTCTGGGTGTGCAGAATGCGTACCCGGTGACTACGCATGCAGGAAAGAAGTAGTTATGGAAATGAAACACAAATAAAAAAGGCAAAATATTGCAAAAACAAATTATTTTATTAAGTGCAAAACAAGCCATAGGCAATAAATATATTAGCTCTGGTACATGTCCATAGACTTGGGTGAGCACGCTCTCCAGAACACATTAAGGCAGTGAAATTATTCTGAACATACAGATTTAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAACTATAACATGTCCCCTTTACACATGCTTGAAAACATCTGAGAGCTTTACATGAATTTCAGTTTGGGTTCAAAGAGAATGTCTGCTCCGTTTGAGAGTTTACAACAGATAGAGTCTCTTACTTCGAGTTCTAGCACTCTGAATTCTAACAGCTCGTTCTGATCCTTGGCGTCTTGCATTTCATTCTTCAGCTGGTTCTCTTCCATTTCCAGTCTGTAAATCTAGAGCAAAGATACCTGCGGATTAACAGGATGGGTGGGAGCACTGGGGTCCCCTGGTCACAGGCCACCTGACTGAGTGGCTGGAGGGAAACAGACGACTGGCCACGGAGGCAAGGGGCAGGAGAGGGCAGGGTTTGCAGCAAGCAAACGAATGAGGTAGGTGCTGCAGGTCCTTTTTGCTGATGCGGCTGGAAATGAAGGAGACAGAGGCTGGGCCAGGTTCACCCCTGCACCTCCGAGCCTGGCCCAGTGGAGTAGGGGCTACTTACATATTTGCTGAATAAATGAATGATGGGGAGACTGAGGCATGAAGCTATGAAGTCCCTTCCTTGAGGCCAAACACTGGGAAGCAAGAGTGCCACACCCAAAGCCTGTCCAGGTCTTTCCAACTCAAGCCCCACCAGATTCAACCCACCCAGACAGAGGCCCAGCCAGCTGCGGCAGGGAGGGCCCCTCCTGCTTCCCCACAGAGCTTGCAGAAGAAGCCGTAAAGGCAGGAGTTCTCTGAGAGCGCAGATCAGTGTGGGAAGTGACACCGCCTGCATCCCAGACCCAGCTGGGAGACGCTGGATCACTCAGCCCACTACTCCAGCCCTCACCTTCTGTCCAAGAAGGGAAACAGCAGCACCCATCGCCTGGCAGCAGCGAGAAGTCACTAAAATAACGCATGTACACGAGGGCTTTGAGTAAAGCCTCATAGCACCATTACAGAAGGCTAGAGGGGGGCCCTCTGCCAGGTGATCCCACCCCCGGGAGACCTTTAGAAATGGGATGAGGGGGTGAGGGTTTTCTGCGGCTCCCTGGATTTAGTGAACAAGACACCAAAGATGCTAAAATTCTCCCGAGGCCTGGGGTTGCTCGCTGTCCCAAATGCCCTTGTCCCAAATGCCCTTGAGAAATGCAGGGAAGGGAATGGGGCCACATGCTGGTTAGCAGCAGATTGGGGGCTGGGCCAAGGACCCCCACCAGGGCCAGGCCAGGTTCCTCCAGTCCTGGTGCCCCAGGATGCTTAAAAGCTGAGGCCTAACCTAGGGTCTGGCTGCACTTACTTGCAACATCCAGAGACAGTGGACTGGAGGCTGCCAGGGGCCGGGAGGCAGGGCAGAGGGGGGACTGCACATGGGCAGGAGGGGTCTTTATCAGGCTGATCATGTTCCAAAACTGCATTGCGGTGATGGTTGTGCAACACAGTAGATTTACAAAAAGAATAAGTGAATTGTACACCAATAAGGAAAAAATAAGCTACGATTTTAATTCCAAAGCATTAGAGCTACTCGCCAAGCAGACTCTCCGAGAGCTCTGGAAAGTTCCACAACCAGAAAGAGAAGAACAGAGGCCCAGTTCCCATTATGGGTCAGCTGCACTGGGCTGAGATGGCCTGAGGATCTGCCCATGGACCTGCCTCAGGCGCCCACCACACTGGTGGTTGAAGGGCTCTGGACCATAAAGCCACAGCAGAGGCGGCCTGGAGCCCAGTGTCAGGAAGATGGACCAGCCCAACAATAGGCCAGCCCTCCCCATTTCTTCAGTTGTCCCCAGAGGTCAGGGACAGCCCTCCCCATTTCTGCAGGTGTCCCCAGAGGTCGGGCCAGCCCTCCCCATTTCTGCAGGGTATCCCCAAAGGACAGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAGGCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCTCCTTATTTCTGCAGAGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCCAGAGGTCGGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAGGCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCTCCTCATTTCTGCAGGGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCTAGAGGTCGGGGCAGCCCTCCCCATTTCTGCAGGGTGTCCTTAGAGAACAAGG
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GATGGCAGGGCTTAAGAAGATGCTCTGGGGTGAGACTGAAGGAAAGAGGGAGGGCTGGGCACTAATTCAATCAATTTCCATGAAGCCCTAACCTGACTAACCTAGGTTTGAAACAGTCTAGTAAGAAAACCTTATTTCCCTTATTAGCCAAAATTTAAAAAAATAAAATAAAAAAAAAACAAGCAAAAAAACAAATTTCATGATGGTTCCATTCCACAGATGACTTTCTACCAGCAAATTTACTTAAATGGCGTCCCCATAGAAAAAGTGGCCCCCAAAACTCAGATTTTATATGAACAAAAGTCATTTTGTAGGCCGGGCATGGTAGCTTATACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCCCTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCTGTGTCTACTAAAAATACAAAAATTAGCTGGGTGAGGAGGTGTGTGCCTGTGATCCCAGCTACTAGGGAGGTTGAGGCCGGAGAATCACTCACACTCGGGAGGCAGAGGTTGCAGTGAGCCAAGAGTGCACCACGCCACTGTCCTCCAGCCTGGGTGACAGAGCGAGACTCTGTCCTAAAAAAAAAAAAAAAAAAAAAAAAGCCATTTTGTTTCTGGTGGTTCTGAAGGATGGTGGAGACCATTAAAGAAAACTCTAGTAAACTGGGTAGTGCTTATAGAATTCTCATGAGAAAGACTCATAACAAGGATTTGTGAAAGGTTCTCTAACAGCGGCAGGAGTATTAACAATGACCTCACATAACTTCCAATTCTGTCGCACAAATAAAATGCTCATGTCATGCTGAGCCAAGAGCTGAGTCACTCTTGGTGTGAGAAATACTCAGGCCACAGGTCCCTGCCCACACGACAAGGTACACACGGTCAGTTCTAATGCAGACAGAATTGTAACTCAAGCCGGCAGGAGAAAACAAAATTGGGGAAGCCACAGACACTGTGAAGGTGCTCACTTTGAGGGTTTCACGCATGCAAAGGTTTCAGCTGAGAGACAGCAGAGCTGCGCCACTACAGGTGCTTAGAGAAACTCATCACAAACTTAAGTGATGTTTAAAATGCCAATGATTTTTCAACAGAAACAAAAAAAAGGATTATGAAGTACCATGAGAGCAAGGCAATACAGTAACACACCCGAGGTAAGATTTCAGCTGGAAGCAGTAAGACCATTAGTATTCTTTCACTGAATCTCACTCGGTGCATTGGGGCAGTTCCTGAAGGAACAGGATTTCTACATGTGAACAGCAACTGATCTCCCTCCAGTAGTTTTGAGGTGCAGTTTGAGTTGCAAATAGTAATTTCTTTAGTCCAATATTGCTGCAATGCCTGGGTCTGTATTTACTGGATAAAAGAGTTTGAACAACGTAACTAGTTTTCTTAAACGCCTATGCAAATACATCCTTCTACCCTGTCTTTACTTACCTTGTGTTTACCTTGGCAAATAGAAAATGGGCCCAAACTGGCATTAAACACATTCTAGAGTCAATTGCTGGCTCAGGTCAGACTCTGCTATTTCAAAAGGTGAGATTTACTGCATGCAAGATCACTTAAAAAGGTGTGTTATTAATTGCAACAGTGCTTCCGTCTGGGTGTGCAGAATGCGTACCCGGTGACTACGCATGCAGGAAAGAAGTAGTTATGGAAATGAAACACAAATAAAAAAGGCAAAATATTGCAAAAACAAATTATTTTATTAAGTGCAAAACAAGCCATAGGCAATAAATATATTAGCTCTGGTACATGTCCATAGACTTGGGTGAGCACGCTCTCCAGAACACATTAAGGCAGTGAAATTATTCTGAACATACAGATTTAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAACTATAACATGTCCCCTTTACACATGCTTGAAAACATCTGAGAGCTTTACATGAATTTCAGTTTGGGTTCAAAGAGAATGTCTGCTCCGTTTGAGAGTTTACAACAGATAGAGTCTCTTACTTCGAGTTCTAGCACTCTGAATTCTAACAGCTCGTTCTGATCCTTGGCGTGTTGCATTTCATTCTTCAGCTGGTTCTCTTCCATTTCCAGTCTGTAAATCTAGAGCAAAGATACCTGCGGATTAACAGGATGGGTGGGAGCACTGGGGTCCCCTGGTCACAGGCCACCTGACTGAGTGGCTGGAGGGAAACAGACGACTGGCCACGGAGGCAAGGGGCAGGAGAGGGCAGGGTTTGCAGCAAGCAAACGAATGAGGTAGGTGCTGCAGGTCCTTTTTGCTGATGCGGCTGGAAATGAAGGAGACAGAGGCTGGGCCAGGTTCACCCCTGCACCTCCGAGCCTGGCCCAGTGGAGTAGGGGCTACTTACATATTTGCTGAATAAATGAATGATGGGGAGACTGAGGCATGAAGCTATGAAGTCCCTTCCTTGAGGCCAAACACTGGGAAGCAAGAGTGCCACACCCAAAGCCTGTCCAGGTCTTTCCAACTCAAGCCCCACCAGATTCAACCCACCCAGACAGAGGCCCAGCCAGCTGCGGCAGGGAGGGCCCCTCCTGCTTCCCCACAGAGCTTGCAGAAGAAGCCGTAAAGGCAGGAGTTCTCTGAGAGCGCAGATCAGTGTGGGAAGTGACACCGCCTGCATCCCAGACCCAGCTGGGAGACGCTGGATCACTCAGCCCACTACTCCAGCCCTCACCTTCTGTCCAAGAAGGGAAACAGCAGCACCCATCGCCTGGCAGCAGCGAGAAGTCACTAAAATAACGCATGTACACGAGGGCTTTGAGTAAAGCCTCATAGCACCATTACAGAAGGCTAGAGGGGGGCCCTCTGCCAGGTGATCCCACCCCCGGGAGACCTTTAGAAATGGGATGAGGGGGTGAGGGTTTTCTGCGGCTCCCTGGATTTAGTGAACAAGACACCAAAGATGCTAAAATTCTCCCGAGGCCTGGGGTTGCTCGCTGTCCCAAATGCCCTTGTCCCAAATGCCCTTGAGAAATGCAGGGAAGGGAATGGGGCCACATGCTGGTTAGCAGCAGATTGGGGGCTGGGCCAAGGACCCCCACCAGGGCCAGGCCAGGTTCCTCCAGTCCTGGTGCCCCAGGATGCTTAAAAGCTGAGGCCTAACCTAGGGTCTGGCTGCACTTACTTGCAACATCCAGAGACAGTGGACTGGAGGCTGCCAGGGGCCGGGAGGCAGGGCAGAGGGGGGACTGCACATGGGCAGGAGGGGTCTTTATCAGGCTGATCATGTTCCAAAACTGCATTGCGGTGATGGTTGTGCAACACAGTAGATTTACAAAAAGAATAAGTGAATTGTACACCAATAAGGAAAAAATAAGCTACGATTTTAATTCCAAAGCATTAGAGCTACTCGCCAAGCAGACTCTCCGAGAGCTCTGGAAAGTTCCACAACCAGAAAGAGAAGAACAGAGGCCCAGTTCCCATTATGGGTCAGCTGCACTGGGCTGAGATGGCCTGAGGATCTGCCCATGGACCTGCCTCAGGCGCCCACCACACTGGTGGTTGAAGGGCTCTGGACCATAAAGCCACAGCAGAGGCGGCCTGGAGCCCAGTGTCAGGAAGATGGACCAGCCCAACAATAGGCCAGCCCTCCCCATTTCTTCAGTTGTCCCCAGAGGTCAGGGACAGCCCTCCCCATTTCTGCAGGTGTCCCCAGAGGTCGGGCCAGCCCTCCCCATTTCTGCAGGGTATCCCCAAAGGACAGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAGGCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCTCCTTATTTCTGCAGAGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCCAGAGGTCGGGGCAGCTCTCCCAATTTCTGCAGTGTGTCCCCAGAGGACAGGCCAGCCCTCCCCATCTCTGCAGGGTATCCCCAGAGGTCGGGGCAGCCCTCCTCATTTCTGCAGGGTGTCCCCAGAGGACAGGGCTGCCCTCCCCATTTCTGCAGAGTGTCCCTAGAGGTCGGGGCAGCCCTCCCCATTTCTGCAGGGTGTCCTTAGAGAACAAGG
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Task1_train_8408
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Assess the clinical impact of this variant on gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Wolfram-like syndrome
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGTTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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Task1_train_8409
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This is a variant in WFS1 (wolframin ER transmembrane glycoprotein), located on Chromosome 4. Is this mutation a likely cause of disease or not?
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Pathogenic; Cataract 41
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGTTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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Task1_train_8410
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Gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGTTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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Task1_train_8411
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A variant found in Chromosome 4 affects WFS1 (wolframin ER transmembrane glycoprotein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Type 2 diabetes mellitus
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGTTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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Task1_train_8412
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Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Wolfram syndrome 1
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGCTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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ATTTCAGTTTCTGTTTTGCTGGTGGCCTTCTCATTTTAGACACTGTTTCTGGACTTAACATGGGATATTTAACAGACCAAGCCATTTTCATTCTCTTTGGCTTGTGTTGGTATCTCCAAGTGGTAACTATACATCCTGCTTCCCTGCTGGGTTCTGATCCAAACTGAGACATCGATCCTGGGTTCAGCTGAGAGGCAGTTTCCCTGAGGCAAAGCTGGAGACTGTAATGTGGCCTGCAGTCAGAGTGGCCCATGCCCCTGAGCTGATGTCCGTCGAGTCTGGGCAGACCAGCTGAGGGGCTGTGGGCCCACACAGACCTGGACAAGCATGTTCACTTTGGGAGGAGGCAGGCTGACCCTTCATAGATAATCTCTTTCAAACAGAGAGGCAGGGGAGGAAAGGGACGCAGCTCAGGCCAGGGGTGGTGAGTTAGGACGTTGTCCTGCGCAAGGGAAGTGGCTGTCCCTGGTGCCGTGGGGCAGTGTGCTTCCTGAAGGTTCCACGCCTCAGGGAAAGATGAAAGTGGGTGTCACAAAGGTGTTTTTTCTAATGATACCTTTTTTTTCAGATTGTAAGAGTATTTTATGCTTATCATAGAAAACTTGGACTATGTAGAAAACATAAAGATACAAATTACTCATAACCTTGAAGCCCAGAAGCAACTCCCCATATTTTGGTGTATTTCCTTCTGTGTTTGTTGTTGTTGTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAGGGGTGCGATCTCAAGTCACTGTAACCTCCACCTCCCTGGTTCAAGCAATTCTCCTGCCTCAGCCTTTTGAGTAGCTGAGATTACAGGCGTGCATTACCACACCTAGCTAATTTTTGTATTTTTAGCAGAGACAGGGTTTCATCAGGTTGGCCAGGCTGGTCACAAACTCCTGACCTCAGGGGATCCACCCTCCTTGGCCTCCCAAAGTGATGAGAGTACAGGCGTGAGCCACCATGCCCAGCTTGTATCATATTTTAAGAGTTACATTTATTATACAGAGTCTTCTCTTTGAAAATTAAACTGATGATTTTGAAAAACTAACAGTGGCATTGTTAGCCAGAATTTCTCACCAACCCAGCCTGCTGATTCCAGAGCAGTTGGAATGACCTGGAGGGGGCTCAGGCGGCCCACACGGCTCATTGTTGGGTGCCAGGGATAGCCCAGAGGCTGCTGGGGCAGAGCGTGCAAGGGAGGAGGCCGGTTGGCCCCGTGTTCCCCCAGCTGCACACACCTTCTGATGTGCAGTTGTGCTTTCTGATTTGAAAAGAAATACATGCTCATGTGGAAAATTTTGGAAATGTTCAAAAGGAGAAAAACATCCAGACCCCCGTGCCAGTCCTCCTGCCCTCTGCTTGGTTGTGCCAGTGTCCCAGGCCGTTGGGGGTAAAGGGAGGAAGGCAGCTGCTGACCAGCGGTAAAACCTGCTCTCCCTCTCCCCGCTGTCCAAGCCTTCCTTAGAAAGGGCTGGGCTGTGTGTGAGACAGAGGAAAGCTCTGTAGACACAGGGGTGGCCCTGCCAGTGCACCCAGGCTGGTGACTGCAGTGAGTCCACCCTGGGTTCAAGACAGCTCTGCCTCTTTCTGACTGTGTGACCTTGAGTGAGCCAGAACACAGGCCTGTGCCTCCGGGTCTGCACCTCTGAGAGAGGGGAGGAACAGGAAGAGGCTGCCTTCTTCCCGCCAGCATGTAGGGGGCACTTGGGGGCGTCTGGTGGGAGACCAGTCTGGCCTCCCAGCTGGAGAGTGGGCGTGGCGCGATGTCCTCTTGAGTCAGATGTCCATGCATCCTTCCCTGGTAACCAAGTCCTGACACCTTCTATGAGTCTCGCTCGAAAGCCTTCCAGGCAGAGTTGGCAGGGTCAGAGTGGCACCGAAAGCCTAGGCAGGGCACACAAGGCCTTTGACCACATCCTATCCCTCAGGCATCACGTCCGAGAACGAACGGGAGGTGAGGCAGCTCTCCTCCGAGACCGACCTGGAGAGGGCCGTGCGCAAGGCAGCCCTGGTCATGTACTGGAAGTTCAACCCCAAGAAGAAGAAGCAGGTGGCCGTGGCGGAGCTGCTGGAGAATGTCGGCCAGGTCAACGAGCACGGTGCGAGGATTCACCCTGGGCACCAGCCTTCCCTGGGCGCCAGCCTTCCCACAGGAGCCAGGACCTTCCCATAGGGGCTGGGACCTTCCCTCAGGGGCTGGGTCTTCCCACAGGAGCCGGGACCTTCCCTGTGAGGACAGGGCCCTTCCTTGTGGGGACCAGGGGACCAGAACCTTCCTGTAGAGACCGTGCCCTAGTGGTGAGGTGTGTGGGTGGCATTTTGACAGCATCTGCCCTGGCTCAAGTGCTCACTCATTGAATAAACCAGAGGGTATTCTGCCCAGTGCTCTGTGACCACGTCTACCAATGGGACGGACTGTGTCCATCACCAAGTGGGAGCACGCTACGTGGTGCTGAGTCCACCCCAGCTACTGGAGGTACAGAGGTGTGGCCCCTGCTCTGCCTGCCCTGGGGGCCCTATGATCCCCAGAACGTAGGATGCCCCTGGAACTGGCGTGCCCTAGGAACAGTGCGCCAGTTTCTGGTGGGCTGCAGGGCACGAGGAGATAGTCAACTTGTCTGACTGTTAATCCACCCTGTCCCCTGCAGATGGAGGGGCGCAGCCAGGCCCCGTGCCCAAGTCCCTGCAGAAGCAGAGGCGCATGCTGGAGCGCCTGGTCAGCAGCGAGTGTGAGTGCAGCCCCTGCCCCGTCTCACCCATGCCTCCCAGCCTGCACCTGCAGGGCGACCTCTCCTTCCTGTGCGACTCCATCCTGGCCTGCCCTATCTCACCCGTGCCTCCCAGCCTGCGCCTGCAGGGCGACCTCTCCTTCCTGTGCGACCCCATCCTGGCCCTGCTAGGATCTCAGGCGGTCCGTTTGGGGCTCAGTGTTCTGGACGCTGGGAGTAGACCCTGCCCACCTGGAGCGCACGCACTGGAGGGAAGGCAGACCCAGGACAGAAACCATGATGTGCCAGTCCCTCTTGGACAAGGAAATACTGGGGGTGGGGACTGGCGGGGGGGTCCTGAGTGGGGAAGGATGAGGAGGGCATTAGGGGAAGGGGCTCCGGGCAGAGGGAACAGCATGAGCAAAGGCCCAGGAGACCCAGCAGGGTGTGGAAGGGGCTCTGCCCCAGCGTAGGCCCTTTGTAGGTAGGCAGGGAACAGAGTGGGCAGAGCCTAGGTTGGGGGATAGAGTCTCTGGGGCACACTGAGCTGGGGGTGCCTCTGGGATGTTTGTGGTCAAAGACTGAGAAGAGACGTCACATCCTCCACGTGCAGCTGGCCAGCCTCACTGTCTTCCATCCACGTGGGGTAGACTCTGCAGTCTGAGGCACTGGGAGCTCCTGTCCTGGAGAAGATAGACAGGCAGGAGGCTTGGGGGCTCAGTATCAATGGGGGGATGGGCCAAGACCCAGGTCTGCCACAGACTCTTCTTGTGACATGGGCAGGTCTCATTTTTCTTTCTGGGTGTCAGTTTCCCCTTCTGAACAGTGAGATGATCAGACAAGGGGACTGAAGGACCTCGCCCATCCTAGAAGCCTCTGTGGCATGTAGGGCAGAGTACAGGTGGGAGCACAGATCCCACCTTCCCACTGGGCCCGTGAGGAAACCGTCCATAGGGTGTGGTCAGAGCCCTCGCCTCTGCGTGGGCGGACATGGGTGCTTGCGCTGCTGTTTTCCTGCTCCATTTGGGGGAGACAAAGAAACACCTCACATGGAAGTGGGAAGAAATCTGTGACTCTAGGAAGCCCGAGGACCAGAGAGGCTGTGACAGTGTCCTGCCACCGAGGTGGCATGGTGCCTGCTGTCCTGAAGTGAGGTGCCTCTGGGCAGGAGCAGCCCAGCCTGGGTCTCCATCCTGGGGGGCACTGCAGGCAGAGTCTGGACCCCAACCTCACTTCCCAGTCCCACAGGGGTTTGTGATGAGCCGGGCACACCTGCTGCTGGGCCCTGTCGCTGTTGCTGGGGGCGAGTTAGGAGTCAGCGCTGCCAGCCTGTGGTCCCCTCCGCCAGGCCCTCAGGGACAGGGCC
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Task1_train_8413
|
Given this context: Chromosome 4, gene WFS1 (wolframin ER transmembrane glycoprotein) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; not provided
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CCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGAT
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CCTGCCCCTCTCCTCTCATCTGTGGAAGACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACCGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGAT
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Task1_train_8414
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A variant affecting Chromosome 4, within the gene WFS1 (wolframin ER transmembrane glycoprotein), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Optic atrophy
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ACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAA
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ACTCAGTCTTCTGGTTGTTTCCAGGTGTCCTGGTCCTCCAGAGCTGATAGCCAGGCTGTTGGCAGGTGAGGGCCACATTCTGGTGTTGTCACCTAGTTGCCATTCACCTGGGATCCCTCCTTGGCCTTCTGGTGGGCCTGGTGGAGAGAACCTGCCCCAGGGGATTTGTGGGGTCTGGTGCTTCCCCGAGGCCCGGAGCTGATGGGGGGCTCCAGCCTGGATGTGTCATGTAGCCCCTCAGTGGGCCCTGGACATGCAGCCAGGCTTCCCTACCCCCATGTGGGGCCGCCCCCTAGGCGTCCACTTCCTGGTGTTGGTCCAGGCCCCTGGCACTTCTGAAGATGCACAGAACCTGCTTTGTATGCCACGCCATGCTGTGTGAGCACTGGCACCATGGCCACTTTGTCCCCCATCCCCTCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCGCATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAA
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Task1_train_8415
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Consider a variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein). Determine its clinical classification and disease relevance.
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Pathogenic; not provided
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TCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTC
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TCCAGTCCCTCTGCCTGGCTGCCCTGTGTTCTGGCAGGGCTCAGGGCCTCTGAGTTCTGCACAGACCAGGAAGGCATGAGGGCTGGCCCTGGGTGGCAGCGCTGCTTCACCCCATCCTGAGGCTGCTCCCAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGGGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTC
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Task1_train_8416
|
Located on Chromosome 4, this mutation impacts WFS1 (wolframin ER transmembrane glycoprotein). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Diabetes mellitus
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CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAA
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CAGCATGCCTCCCTCAGCCCTCTGCTCCTCTTGGCTGTGGTGAAGGCCAAGAGCTCTTTCTGACCTTAGCGCTGCATGCAGAGCAGGGGAGCAGGACCCACAGGTCGGGGGAAGGCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTACCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAA
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Task1_train_8417
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A variant was discovered on Chromosome 4, affecting WFS1 (wolframin ER transmembrane glycoprotein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCGCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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Task1_train_8418
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A mutation in WFS1 (wolframin ER transmembrane glycoprotein), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Type 2 diabetes mellitus
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCGCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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Task1_train_8419
|
Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cataract 41
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCGCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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Task1_train_8420
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This mutation is located in gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Wolfram syndrome 1
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCGCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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Task1_train_8421
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Here’s a variant in WFS1 (wolframin ER transmembrane glycoprotein) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Wolfram-like syndrome
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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GCAGCCTTTGGCCTTGACTATGGGGAGGTAGGGGTGCGCTGGTGTGTATGTGTAGGTGCACACGTGTAGGGGTGGGTGTGCATGTGTGAGGGTGCACGTGTGGGGGTGGGTGTGCACGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCGCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTA
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Task1_train_8422
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This mutation is located in gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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TTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCG
|
TTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTTGAATGCAGGTAGGTTGCGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCGCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCG
|
Task1_train_8423
|
Gene WFS1 (wolframin ER transmembrane glycoprotein), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; not provided
|
GGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAA
|
GGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGTGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAA
|
Task1_train_8424
|
A mutation on Chromosome 4 affecting WFS1 (wolframin ER transmembrane glycoprotein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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TGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATT
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TGTGAATGTGTGTGTAGGGGTGGGTTGTTTGCGGGTAGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTGTGAATGCGGGTAGGTTGCGTGTGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCACGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATT
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Task1_train_8425
|
A variant was discovered in gene WFS1 (wolframin ER transmembrane glycoprotein), Chromosome 4. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; not provided
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TGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAG
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TGTAGGGGTGGGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGCATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAG
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Task1_train_8426
|
Here is a mutation in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Diabetes mellitus
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GGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCT
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GGTTGCGTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCCGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCT
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Task1_train_8427
|
Gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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GTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCT
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GTGTGTGTGAATGTGTGTGTAGGGGTGGGTTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGAGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCT
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Task1_train_8428
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A variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein) 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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TTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTC
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TTGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGACGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTC
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Task1_train_8429
|
A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Optic atrophy
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8430
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This genomic variant is located on Chromosome 4, within the WFS1 (wolframin ER transmembrane glycoprotein) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8431
|
An alteration has been detected in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; WFS1-spectrum disorder
|
TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8432
|
A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Wolfram syndrome 1
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8433
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This gene mutation involves WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Rare genetic deafness
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8434
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Consider a variant on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein). Determine its clinical classification and disease relevance.
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Pathogenic; Wolfram syndrome 1
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8435
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This sequence variant lies in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8436
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The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Wolfram-like syndrome
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8437
|
A variant found in Chromosome 4 affects WFS1 (wolframin ER transmembrane glycoprotein). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; WFS1-related disorder
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8438
|
A mutation found in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Inborn genetic diseases
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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TGTTTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGTGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCT
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Task1_train_8439
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The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Rare genetic deafness
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TTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTG
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TTGAATGCGGGTAGGTTGCGTGTGTGTGAATGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCCCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTG
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Task1_train_8440
|
This sequence variant lies in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Type 2 diabetes mellitus
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGTCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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Task1_train_8441
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A mutation on Chromosome 4 affecting WFS1 (wolframin ER transmembrane glycoprotein) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Autosomal dominant nonsyndromic hearing loss 6
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGTCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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Task1_train_8442
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The gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Wolfram syndrome 1
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGTCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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Task1_train_8443
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The gene WFS1 (wolframin ER transmembrane glycoprotein) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cataract 41
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGTCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
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Task1_train_8444
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This sequence change occurs on Chromosome 4, altering WFS1 (wolframin ER transmembrane glycoprotein). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Wolfram-like syndrome
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TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
|
TGTGTATAGGGGTGGGTTGTGTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGTCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTG
|
Task1_train_8445
|
This variant impacts the gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Optic atrophy
|
GTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGT
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GTGAATGCGTGTGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCAGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGT
|
Task1_train_8446
|
Gene WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; not provided
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TGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTG
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TGTGTAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAACTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTG
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Task1_train_8447
|
A mutation found in WFS1, WFS1 (wolframin ER transmembrane glycoprotein| wolframin ER transmembrane glycoprotein) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Wolfram syndrome 1
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TAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTT
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TAGGGGTGGGCTGCATGTGTGTGTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACTTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTT
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Task1_train_8448
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With a mutation on Chromosome 4 in gene WFS1 (wolframin ER transmembrane glycoprotein), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Rare genetic deafness
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GTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCA
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GTGTAGGGGTGGGTTGTGTGTGTGTGTATGGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACACCAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCA
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Task1_train_8449
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Here is a variant affecting WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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GGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACG
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GGGGTGGGTTTGTGTGAATGCGTGTGTGTAGGGGTGGGTTGCGTGTGTGTGTGTGCACGTGTGTGTACGGGCAGAAGGTGGCCTGGCAGCTGCTTCTCAGGGTCTCCGGCCATAGGGAGGGCAGCTCACCCGGCAGCCCCGTGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCTCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACG
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Task1_train_8450
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This mutation occurs in WFS1 (wolframin ER transmembrane glycoprotein) on Chromosome 4. Does this change lead to a known medical condition, or is it benign?
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Pathogenic; not provided
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TGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACAC
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TGCAGCTGAACGGTATTTTTGCTGGGAGAGTGGTGCTGGGCCCTCTGCCTGTGTCTGCACTGAACTCCCTTTCCCTAATGCTTGCTCTGCCACCCCTCCGGGGACTGCCTGCGGCTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCCACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACAC
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Task1_train_8451
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A variant was discovered on Chromosome 4, affecting WFS1 (wolframin ER transmembrane glycoprotein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Wolfram-like syndrome
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CTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCGAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCAT
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CTTCTCCTCCTCGTAAGGATCGCCATTTCCCTTCATGGAGGCTCAGGGAGGTGACATCCTTGCTGTAGTGCAGAGCTGGGTCACAAAACCAGCTCCCAGACAGGCATCTCAGGGCTCCGTCATCTCTTCATGTGGGTGACCCTGAGGGGAGGGAAGTGGGGAGCCCGTGGGTCCCTCCAGTGCTGGAGGTCTTGCAGGGAGAGAAGCACACATGCATCTAGTCACGCTGGTAGAAGGTGGGGAGCCAGGCACGGGGCAGAGGGGGGCTCCAGGCCCAGAAGAGGGAGGGCTCACAGGGACCGCGAGCATGGGGAGGGCCACCTGGAGAAGGGGGGAGGGAGGACCACTAGGATGGGGCTGGTGATGGGAAAACGCAAGGGTGCGGGTTCCTTTTGCCCAGAGGCAGGGTGGTCAGAGGGAGGCGTGAGATGGGAGCAGTGGGGGTCCTGTCCCAGCCTCGTTCCCACGTACCATCTTTCCCCCAGGTGGTCAAGTACCCCCTGCACGCCATCATGGAGATCAAGGAGTACCTGATTGACATGGCCTCCAGGGCAGGCATGCACTGGCTGTCCACCATCATCCCCACGCACCACATCAACGCGCTCATCTTCTTCTTCATCGTCAGCAACCTCACCATCGACTTCTTCGCCTTCTTCATCCCGCTGGTCATCTTCTACCTGTCCTTCATCTCCATGGTGATCTGCACCCTCAAGGTGTTCCAGGACAGCAAGGCCTGGGAGAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCGAGGTCAACTTCGGCTGGAACCACCTGGAGCCCTATGCCCATTTCCTGCTCTCTGTCTTCTTCGTCATCTTCTCCTTCCCCATCGCCAGCAAGGACTGCATCCCCTGCTCGGAGCTGGCTGTCATCACCGGCTTCTTTACCGTGACCAGCTACCTGAGCCTGAGCACCCATGCAGAGCCCTACACGCGCAGGGCCCTGGCCACCGAGGTCACCGCCGGCCTGCTATCGCTGCTGCCCTCCATGCCCTTGAATTGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTCGGCCACCTGGTCGTCCTCAACGTCAGCGTCCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCCGCATGGCACAGCTGAGGAATTTCAAGGGCACCTACTGCTACCTTGTGCCCTACCTGGTGTGCTTCATGTGGTGTGAGCTCTCCGTGGTCATCCTGCTGGAGTCCACCGGCCTGGGGCTGCTCCGCGCCTCCATCGGCTACTTCCTCTTCCTCTTTGCCCTCCCCATCCTGGTGGCCGGCCTGGCCCTGGTGGGCGTGCTGCAGTTCGCCCGGTGGTTCACGTCTCTGGAGCTCACCAAGATCGCAGTCACCGTGGCGGTCTGTAGTGTGCCCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTGGTGGGGATGGTGAAGTCCCTGACGCGGAGCTCCATGGTCAAGCTCATCCTGGTGTGGCTCACGGCCATCGTGCTGTTCTGCTGGTTCTATGTGTACCGCTCAGAGGGCATGAAGGTCTACAACTCCACACTGACCTGGCAGCAGTATGGTGCGCTGTGCGGGCCACGCGCCTGGAAGGAGACCAACATGGCGCGCACCCAGATCCTCTGCAGCCACCTGGAGGGCCACAGGGTCACGTGGACCGGCCGCTTCAAGTACGTCCGCGTGACTGACATCGACAACAGCGCCGAGTCTGCCATCAACATGCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACGGCGAGGCCTACCCTGCCTGCAGCCCTGGCAACACCTCCACGGCCGAGGAGGAGCTCTGTCGCCTTAAGCTGCTGGCCAAGCACCCCTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTACCGTGGGCATGCCATTCAGCAGCGGCGCTGACGGCTCGCGCAGCCGCGAGGAGGACGACGTCACCAAGGACATCGTGCTGCGGGCCAGCAGCAAGTTCAAGAGCGTGCTGCTCAGCCTGCGCCAGGGCAGCCTCATCGAGTTCAGCACCATCCTGGAGGGCCGCCTGGGCAGCAAGTGGCCTGTCTTCGAGCTCAAGGCCATCAGCTGCCTCAACTGCATGGCCCAGCTCTCACCCACCAGGCGGCACGTGAAGATCGAGCACGACTGGCGCAGCACCGTGCATGGCGCCGTGAAGTTCGCCTTCGACTTCTTTTTCTTCCCATTCCTGTCGGCGGCCTGAGGATGGTCCGCCACGAGGAGCTTCCAGTGCATGTTGCCATGAGGCCTTTCCCCAGTGTGGCCCCAGCCCGACAGGCATGCACCAGTGCCGCCTGTGCCCACGTGTGCAGACTGTGGCTGCAGAGACCTTGCGACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTGCTGTGTAGCTCTGTCCACTCTGAATACCAAGTGTGTTGGGAATTGCATGCCATCTCCACCCTGAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTGGAAAAGCACTTTACAGATGAGATTCCCTCTCCTCCCCCACCTTCAAGCACCCTGTTCCCTCTTTCTTTCTTTTGTGTTGGATTTGTTTAAAAACCAAATAAGCATCTGTGTAACCTCCACAGTAGCATTTCTTATTTGTTTGGTCACTGCTACACCTTAGCAGCTCTTCCCCTTTCCTGGGGGATGTGCACGGCAGCTTGAGCCTGTCACGTGGTCAAGGCCCGGCCCCATCAGAGGCTGGGGGAGGCGGCACATTGGCAGTGTGTCACACTGAGCTGGGCACCACAGGCTGCCTCATGACCCTCCTGTCCAGCAGGTAGTGGGTGAATGTGTGAAGGTCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCTGTGGGGGCGGCTGTGGGGGAGGTCCCTGCCAGTGTTTAGAAGAGCCTGACTGTGTTCAGTGCCTTGGAGCAGAAAGCCAGGGTCCTGAGTGGCTGAAATAAAAGCCTCTGGTGGAACCTGCAGCGCTTTCCTTCCTTTCTTTACCGAAAAGAAGTCTTTCTTGTACGTGCGTGAGAATCAGCAGAGCCTGCACTCCTGTTGAATGAAATGCAAGTGCAATTTGAGTTATAAAAGAGCAAGGTTGATGTTTCACAGTTGATGGCTTCCTGCCACAGCGAGACCCTGGCTTCATCTCCAGCTGGAGGGGCCCCTGGGGCATCTGCCGTAACTGTGGGGTGGCCTGGGCATGGGCTGCCTGTGCAGAGAGACCTGTGCTGAAGGTGACCATGGAGTGTCAGCCCAGCCATCTTCAGATCTTACTGAGCGGAAAGTGCACGGTCATAATTATCTTTGAATTCCAGTTACCCATGAAGTGGAGCCTACAGGGTGATTGATGGCGTGGGGGCTGCTGTCCATGCGGGAGTGTGTTGTGAAACCACCTCCTGTGTTCCCTAACCTGCAGTGATGACCCCATGGGATTATAATCAGAACTTAGTCATTTGGGGGCACCCGAGCAGCTGCAGGCCCCTCAGCAAACCTCACCCCTCTTGGGCAGCCTGTCTGTCCCAGCCCCTTGGGTCTTTGGTGTCTTCCCTGAGGTTGAGGACGTGGCCTGTACCTGCTCCTGTCCCCCGTAGGCTGGGCTGCTCTCTGCTGGGCACCAGGCCTCACCTCTTTGCTGTGGGTGGGAAGCGTCGAGTGGTCACACGATCTGGCTTGGCCACCTGGTGTTGCCATGCAGGATGTGGTTGCTCCATTTTCCTTGGACGACACTGGGTGGTGGCAGCTACACCCGACACTGTCCTCTCATCCTGGTTTGTCCTGCCTGGAGGGGCTGCGTGAAACCACACGAGAGGCTCAGGTGGTGTCATCACTCCGAGCCACGGGTGGTGGAAGCTGCACCCCCACACTGTCCTCTGCGTGAAACCACACGAGAGGCTCAGGAGGTGTCATCACTCCGAGCCACATGCTCGCCCCTGGGTTTCTTTCCCAGGCAATGAGATGAGGTTGGGGTTCAGCCTCAT
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Task1_train_8452
|
Here’s a variant in HMX1 (H6 family homeobox 1) located on Chromosome 4. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Oculoauricular syndrome
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GTGGACCTGCGGGCCCAGAGGCTGAAGGAGGCCCCCTGGGCTTGCTGGAACCCTGGCCTCACAGTAAGGAACCAACTGATGGGCCGGGGCGGGGGCTGGGGCTTGGAGGACATGATTCTGGGTCAGGAGCTGGATGGTAGAGACACACAGATGCACTGACCCCCAGGCCCACTGCACGCTCTCCTTGGCCGTCTGGCGCTACCTTGATTGCCCCAAGACCAGCGTATGGCCCGGCTGCTGCCCATCTCACCCGGGGAGCGTCTACACCCAAGTGAAGCAGGACAGGGAGATGGGTTTTCTTAGGGGCTCAATTCTGCCATGGAAGTGAACTTTTCAAACCCGAACAACATATTTCTCCTAGGCTGAAACACACACCAAATACTGTCCCTCCCCCACCCAAAAGCAGCCAGCTTGGGGCTGATGGAGGTGGGGTGGCCCCAGTGGCCCAGAATAGGGGAACGAGCTCTCCTTCAGATCCCATCATCACCGGCCGTGAACAGCTTTGTCCACCACCTGAGTCCTCCAGCTGACCAGAGACCAGAGACTGCAGGCCGGGAGGAAGACCCAAGGCAAGAGCACGGTGGCCTGACCTTGAGTGCCACGGCTTTGTTTTGGCCCAAAGAAAAATTCCATACCAGATAGGAAATGGCTGTGCACACGGGGCGCCACACAGCCGAGCCCCTGTGACGAATGCCAGCGGCCATCAGTGGGCCTCTGCCTTCACCTGCTCCTGCCTTTCGGTTTCAGTCAAGGCTCTAGAACTTGGGACACACCATCATCACTTCCTCCTCCCTACTCCCGGCTCCTGGCCCTTCCCTGTGGTGTGTCATAGAAGAGGGGCACAGCGCTCATCACCTCCGACTAGGGTCTGCCCTGCCCACCTGCACCTGGCCCAGCCCTGGGCTCCAGGTGTCCCCAGTCAGCACTGAAAGGTGCTCCCAGGAGGGACGGCACCCAGCGCAGCTTGAGCTGTCTCTGCCCTCGTGATCACAAAGCAGTGAAACTGTCCAGAAAATGTCCCTTTTTATTCCATACGCAAATAAGTAGATTCATTTAAAAAAACAACAACCCGGAGGCTGCGACGTCTGCAGAGAGCCCCAGCCTGCCTGCTCCTGGAACGGACGATGGGACCCACAGGTCCAGGGTCCTTTCTCCACCAGCACCCGCGAGAGGGGTAGCACAGCCCTCCGGGCCGGCCTGCTGTCTGGGTCCCAGGAAAGGGACGTTTAGTGTTGGGGGCAGTCTGTGGGGACAGTCACCGCTCAGCCTTGGACAGCCGGTTCGTAGTTTTCCTTTGTTGCGCTGGGCTTGGCCTGAGGGCAGCTGCCCCGGGTGGCCATGGCCGACCGCTCCTCGCTGAGGCCGGGGGGTGGCCGTGGCGCCGGGGGCTGCGCAGCCCAGAGTCTCTGCATGGCCCCCTGTTCGAGTGGGGATCCAGCCTGGCAAATGGGTGGGGCGTCCCATTACATTCTAGAGGCGCTCCCCACAGAAGCTGAGGCCCGCCCGGCCGCGGCCTGCGCTCCCGAGGTATCTAGGAGGCCGCAGGAGCGACCATCCCTTCCCTAACGCCCCCTGAGCCCTGCGCCTGCCGCTGAATCGCGCGTCCACACAGGTCCACAGGGTCGTGGGGAGAGGGCCCGGCAGGCGGGGCTCACACCAGGCCAGGCATCTGCGCCCGCAGAAAGGGCACGGAGGCGGCGGCCGGGAAGGCGGCCAGCGGGTAGGCGAGGGCCCCGGAGAAGCCGAGCAGCGGTGGGGGCGGCGCGGGCGCGGCGGGCGCCAGCGGGAAGGGCAGGGTGGCCGGGGGCCCAGCGGCGGCTGCGGCCGGGGGGCTTTCGTGGTAGAGCACCGGCACGCGGACCAGGCGCTGCGCTCCCGGCGGGGACAGGCTGGCCGCCTCCAGCTCGGCTGCCAGCTGCCGCTTCCACTTGTTGCGGCGGTTCTGGAACCAGATCTTAACCTGCGTCTCGGTGAGCTGCAGGGAGGCGGCCAGGCCGGCGCGCTCGGCGCTGCTCAGGTAGCGCTTCAGGTCGAAGGTGGATTCCAGCTGGAAGACCTGGCTGCGGGAGAAGACTGTGCGCGTCTTCTTCTTTCGGCCGCCGCCCACGCCAACGCCGCCGCGTGTCTCCCCAGCCGCCGCAGGGACCTCGGCCAGCTCCGACGCCTCCTCCGTGCCGGCCGCCGGGCCACGCGCCGCCAGCTCCGCTGCCTCCCGCTGCACCGCTCCCGGCCCGGGGCCTCGCGGCCAGGCGCCCTCCGCACGGCCCATCTCCTCGCCCGTCTCCGGTGAGTCCCGGTCGCTGGCTGCAGGGGAGAGAGGGCACCACCGTTGGTTCTAGGGCACTGATTACCAGACTCAATCACTGAGGCCAGCCGTCCCCACCTTGAGGTCGCTCACAGCCACAAGCAGGAAGACCTTCCAGCACAGGGCTGGGCACCCAGCAGCTCTGGGGATGCACACATTGTCAGAACCGTGGGAGGCGGCCCAGAGACCAGGCAGCAGCTCCAAACCAACACCCCGCAACACACCAACACCCCGCAACACACAAACACAAACGCACACCCATGCCAGAGGACAACAAAGGGATGCAGAGCAAAGAAAAGAAACAAAAATACTACACAAGAAAAGCAGGCTGACCCCAGTGAGCACTCCCCACTCCCAGCTGCACCACGGGCGGCCCGGAAAAACACACAAACCTCCCGCAGAAGTCCCGGGACAAGAGGAAAGATGTCCTTCCGAGAAATGTTCACACCGAAAAACAAGCACAGGACACCCCCTGCCACCTGGCATCCAGCCCCACGCCAAGCTCCCCAGAAGGAGGAATGAAGAGTTCACAGGCCTCTTCCCGCGCCCTCTGCCCGCTTGCACAGAAACATTCCATAGTAGGAGGACAAACCAATGCAAAGGATCCCCAAAAGAGAACTCCCATCAGGTGAGGCTGTCACCCCCACACCACATACTCCTGTAGCCCTGACCCAGTGTCCACAAGGCAAGTCCACACCAGCCACAATCATGCTCAAAGGGAACACGGGCACATGCCACTCTAAGCAACATGCAGCAGCTGAGTCCTGCCCCAAACACTTTCAAGACTGGAGGTTCAGCCTCATGGGTTTGGGCTGAAACCAGAAGCTCACAGGCGGTGTCTGAGTTCATGTTCCAAGTACCAAGCTCCCCTACTCATCTCCTAGGAACAAGAAGAGGCCCACAGGCTGGCAAGGGATGATGTCAGGTTAAAGAGGCCAGCCGGGACCCAGAAGCACTTGCCCAGATTGAAGAGGGCAGCAGCCTCCCACTGCAGGGCTCTGGAGGCTGACTCGGACCCGCTGCTTTTCTGCCTTGGTCTGGAGCCTCCCGTGCAAAGGGCAGGCCCAGGTTGACAGGTTAGAGGTGGAGGCAGAGTTTGGCCTGGCCCTGGGCCCCTGGAAGGCTGTGCACTCGGCCGGGTGTGTGCCTGCAGTGTATTTGCAGCATTTGCACGCTCATGCAAGGGGTGCGCACACTGGTGGGCTTCTGTGCGTGGTTCCAGCTCTGTGCCTCATGCCCAAGGAGTGTGCACATCCCACTCACGCCCGTGGCCAATCCCCATGGTGTGTGCCCTCACAGCACCCACAGGGGAGTCAGGCAGCAGGTTGTGGTGCATGCTACTAGATCTGGGGAGTCCCTGCCTCCCCCCAATACCCCAAACTCACAGAGGCCCATGTGCTGCCACAAGGCACTAGGCTGACTTGCCAGCTCCAGTGAGGAAGTGGGACCCTAACCCGCATGGCACGAAATAAGGGGGAGCCGCCTCTGCAGGGGTGCCACCTGGGCTGCAGGAGGGGATGCACCCCAGGGATGAGTGGAGAACAAATTTCACCCTGAGAAACCCTTTCCATAGTCTCCCCCAGAAGGGCACTAGACAGAGTCGCTCGATTTCTGGGAAACCACGGAAGCCCTGCTCAAGTCTACGTGAAGGGGGTGGGGGCCTAGACTTCCTGAGTGTGGGTGCCGAGATGTGGGGGCTTTTGCAAAGGATCACTCCACGACATGGAAAGGGTTATCTAACAAGTGAGTGAGGGTCGTAGGCCACTTACTCCCCAGCACACACTAATATTC
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GTGGACCTGCGGGCCCAGAGGCTGAAGGAGGCCCCCTGGGCTTGCTGGAACCCTGGCCTCACAGTAAGGAACCAACTGATGGGCCGGGGCGGGGGCTGGGGCTTGGAGGACATGATTCTGGGTCAGGAGCTGGATGGTAGAGACACACAGATGCACTGACCCCCAGGCCCACTGCACGCTCTCCTTGGCCGTCTGGCGCTACCTTGATTGCCCCAAGACCAGCGTATGGCCCGGCTGCTGCCCATCTCACCCGGGGAGCGTCTACACCCAAGTGAAGCAGGACAGGGAGATGGGTTTTCTTAGGGGCTCAATTCTGCCATGGAAGTGAACTTTTCAAACCCGAACAACATATTTCTCCTAGGCTGAAACACACACCAAATACTGTCCCTCCCCCACCCAAAAGCAGCCAGCTTGGGGCTGATGGAGGTGGGGTGGCCCCAGTGGCCCAGAATAGGGGAACGAGCTCTCCTTCAGATCCCATCATCACCGGCCGTGAACAGCTTTGTCCACCACCTGAGTCCTCCAGCTGACCAGAGACCAGAGACTGCAGGCCGGGAGGAAGACCCAAGGCAAGAGCACGGTGGCCTGACCTTGAGTGCCACGGCTTTGTTTTGGCCCAAAGAAAAATTCCATACCAGATAGGAAATGGCTGTGCACACGGGGCGCCACACAGCCGAGCCCCTGTGACGAATGCCAGCGGCCATCAGTGGGCCTCTGCCTTCACCTGCTCCTGCCTTTCGGTTTCAGTCAAGGCTCTAGAACTTGGGACACACCATCATCACTTCCTCCTCCCTACTCCCGGCTCCTGGCCCTTCCCTGTGGTGTGTCATAGAAGAGGGGCACAGCGCTCATCACCTCCGACTAGGGTCTGCCCTGCCCACCTGCACCTGGCCCAGCCCTGGGCTCCAGGTGTCCCCAGTCAGCACTGAAAGGTGCTCCCAGGAGGGACGGCACCCAGCGCAGCTTGAGCTGTCTCTGCCCTCGTGATCACAAAGCAGTGAAACTGTCCAGAAAATGTCCCTTTTTATTCCATACGCAAATAAGTAGATTCATTTAAAAAAACAACAACCCGGAGGCTGCGACGTCTGCAGAGAGCCCCAGCCTGCCTGCTCCTGGAACGGACGATGGGACCCACAGGTCCAGGGTCCTTTCTCCACCAGCACCCGCGAGAGGGGTAGCACAGCCCTCCGGGCCGGCCTGCTGTCTGGGTCCCAGGAAAGGGACGTTTAGTGTTGGGGGCAGTCTGTGGGGACAGTCACCGCTCAGCCTTGGACAGCCGGTTCGTAGTTTTCCTTTGTTGCGCTGGGCTTGGCCTGAGGGCAGCTGCCCCGGGTGGCCATGGCCGACCGCTCCTCGCTGAGGCCGGGGGGTGGCCGTGGCGCCGGGGGCTGCGCAGCCCAGAGTCTCTGCATGGCCCCCTGTTCGAGTGGGGATCCAGCCTGGCAAATGGGTGGGGCGTCCCATTACATTCTAGAGGCGCTCCCCACAGAAGCTGAGGCCCGCCCGGCCGCGGCCTGCGCTCCCGAGGTATCTAGGAGGCCGCAGGAGCGACCATCCCTTCCCTAACGCCCCCTGAGCCCTGCGCCTGCCGCTGAATCGCGCGTCCACACAGGTCCACAGGGTCGTGGGGAGAGGGCCCGGCAGGCGGGGCTCACACCAGGCCAGGCATCTGCGCCCGCAGAAAGGGCACGGAGGCGGCGGCCGGGAAGGCGGCCAGCGGGTAGGCGAGGGCCCCGGAGAAGCCGAGCAGCGGTGGGGGCGGCGCGGGCGCGGCGGGCGCCAGCGGGAAGGGCAGGGTGGCCGGGGGCCCAGCGGCGGCTGCGGCCGGGGGGCTTTCGTGGTAGAGCACCGGCACGCGGACCAGGCGCTGCGCTCCCGGCGGGGACAGGCTGGCCGCCTCCAGCTCGGCTGCCAGCTGCCGCTTCCACTTGTTGCGGCGGTTCTGGAACCAGATCTTAACCTGCGTCTCGGTGAGCTGCAGGGAGGCGGCCAGGCCGGCGCGCTCGGCGCTGCTCAGGTAGCGCTTCAGGTCGAAGGTGGATTCCAGCGGGAAGACCTGGCTGCGGGAGAAGACTGTGCGCGTCTTCTTCTTTCGGCCGCCGCCCACGCCAACGCCGCCGCGTGTCTCCCCAGCCGCCGCAGGGACCTCGGCCAGCTCCGACGCCTCCTCCGTGCCGGCCGCCGGGCCACGCGCCGCCAGCTCCGCTGCCTCCCGCTGCACCGCTCCCGGCCCGGGGCCTCGCGGCCAGGCGCCCTCCGCACGGCCCATCTCCTCGCCCGTCTCCGGTGAGTCCCGGTCGCTGGCTGCAGGGGAGAGAGGGCACCACCGTTGGTTCTAGGGCACTGATTACCAGACTCAATCACTGAGGCCAGCCGTCCCCACCTTGAGGTCGCTCACAGCCACAAGCAGGAAGACCTTCCAGCACAGGGCTGGGCACCCAGCAGCTCTGGGGATGCACACATTGTCAGAACCGTGGGAGGCGGCCCAGAGACCAGGCAGCAGCTCCAAACCAACACCCCGCAACACACCAACACCCCGCAACACACAAACACAAACGCACACCCATGCCAGAGGACAACAAAGGGATGCAGAGCAAAGAAAAGAAACAAAAATACTACACAAGAAAAGCAGGCTGACCCCAGTGAGCACTCCCCACTCCCAGCTGCACCACGGGCGGCCCGGAAAAACACACAAACCTCCCGCAGAAGTCCCGGGACAAGAGGAAAGATGTCCTTCCGAGAAATGTTCACACCGAAAAACAAGCACAGGACACCCCCTGCCACCTGGCATCCAGCCCCACGCCAAGCTCCCCAGAAGGAGGAATGAAGAGTTCACAGGCCTCTTCCCGCGCCCTCTGCCCGCTTGCACAGAAACATTCCATAGTAGGAGGACAAACCAATGCAAAGGATCCCCAAAAGAGAACTCCCATCAGGTGAGGCTGTCACCCCCACACCACATACTCCTGTAGCCCTGACCCAGTGTCCACAAGGCAAGTCCACACCAGCCACAATCATGCTCAAAGGGAACACGGGCACATGCCACTCTAAGCAACATGCAGCAGCTGAGTCCTGCCCCAAACACTTTCAAGACTGGAGGTTCAGCCTCATGGGTTTGGGCTGAAACCAGAAGCTCACAGGCGGTGTCTGAGTTCATGTTCCAAGTACCAAGCTCCCCTACTCATCTCCTAGGAACAAGAAGAGGCCCACAGGCTGGCAAGGGATGATGTCAGGTTAAAGAGGCCAGCCGGGACCCAGAAGCACTTGCCCAGATTGAAGAGGGCAGCAGCCTCCCACTGCAGGGCTCTGGAGGCTGACTCGGACCCGCTGCTTTTCTGCCTTGGTCTGGAGCCTCCCGTGCAAAGGGCAGGCCCAGGTTGACAGGTTAGAGGTGGAGGCAGAGTTTGGCCTGGCCCTGGGCCCCTGGAAGGCTGTGCACTCGGCCGGGTGTGTGCCTGCAGTGTATTTGCAGCATTTGCACGCTCATGCAAGGGGTGCGCACACTGGTGGGCTTCTGTGCGTGGTTCCAGCTCTGTGCCTCATGCCCAAGGAGTGTGCACATCCCACTCACGCCCGTGGCCAATCCCCATGGTGTGTGCCCTCACAGCACCCACAGGGGAGTCAGGCAGCAGGTTGTGGTGCATGCTACTAGATCTGGGGAGTCCCTGCCTCCCCCCAATACCCCAAACTCACAGAGGCCCATGTGCTGCCACAAGGCACTAGGCTGACTTGCCAGCTCCAGTGAGGAAGTGGGACCCTAACCCGCATGGCACGAAATAAGGGGGAGCCGCCTCTGCAGGGGTGCCACCTGGGCTGCAGGAGGGGATGCACCCCAGGGATGAGTGGAGAACAAATTTCACCCTGAGAAACCCTTTCCATAGTCTCCCCCAGAAGGGCACTAGACAGAGTCGCTCGATTTCTGGGAAACCACGGAAGCCCTGCTCAAGTCTACGTGAAGGGGGTGGGGGCCTAGACTTCCTGAGTGTGGGTGCCGAGATGTGGGGGCTTTTGCAAAGGATCACTCCACGACATGGAAAGGGTTATCTAACAAGTGAGTGAGGGTCGTAGGCCACTTACTCCCCAGCACACACTAATATTC
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Task1_train_8453
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This alteration in SLC2A9 (solute carrier family 2 member 9) on Chromosome 4 may affect gene function. Does it lead to a disease or is it benign?
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Pathogenic; Hypouricemia, renal, 2
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TTCCCTGCCAGCCTTTGCTCAGTTATTTTATTCCCTCTCTAACAAGTACTTGTGGAGCCTTACTATGTCTTCAGCACAGTTCTAGGTTATCAGGATAAGATTGTGAACCACACACCAGGTCCTTTCATGGAGCTTATTTTCTAGCCTGGAGGAGACACACATTAAAGACAGACTGCAGCACACAGGCCGCATGCAGCCCACTGCCTGCTTTTGTAAATAAAGTTTTACTGGGACACAACCATGCAGTCCATTCATTTACTCGTTATCTATGGCTGTGTCCACACTACCATGGCAGAGGTGAGTAGTTGTGATAGAGAATGCATGGTCTGTGAAATAAAAGTATTTACACCTGGCCCTTTGCAGGAAAAATCTTCCCATGTCTGCATTAAACAAATGAGTACGCAGGAAACCAACATGCCTGTGAACAATGCTATGATGGGTGATGAGATAGAGGGTAGGTGTGCATGTGTGTGTGAGTGTATATAGTAAATGTGTGTGTGCTGGTTTTAGAATAAGTGGCCAGGAGAGGCCTCACTGAGCAGCTGACATCTCAGAGGGGACTTCCACACCAGAGGCAAGCCCCTCTGGGAGCAGAGACTGCTCCTGTCTGGTTTGCTCACGCATGTCCCCAGGCTAGCATAGGGCCGTAGGCTGGACACCTCCAGAGCACTGATGTGAAGATGTGGATGTGAGGTTGTGATGCAGATGCCCTGGAAGACTAAACACATTTACTCCTCGCGTCCACTGTAAACTACAACATGTGCTGTGTGTTCATCCTCTAATTCGCTGCCCTGCCTGGGAGGTGCTTGCTTTCTTTTTCTTGCAGCCGTTCTGACCACCCTCATAGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGTGTGCATGTATGTGCACCTGATGCCCTCCCCAACCATTCCATGGCCCACCTTGCCACCTTGCCATCTTATTATAATATCCCGATGTCCTGAATGGACACTTTCCATCCACCATGAATGCAATAGAACCTGGAATGTAATGGCTTACGAGAATCAGCAACACAAAGGGAGAAACAGAAGTTCAGTTCCCTTTGTTCTGATAGAAACTTACTGTTTGCATCCACCAAGAAACACAACCAAAGAACAGCCATGAATATCATCCCATGAGAGAGCACATGGCTGTGTCAGACCCTGCCCTGAGCCCCCCTTCTCAGTCTGACCTTGGACTCTGCTGGAGGTCCCTGCTGGACGTGGACACAGGGCCAGGGAATGGTAGGGTCCTCAGTTGCATTGCATCCTTGTCGTTGTACAGATGGGGAAACTGAGGCTAACAAAGAGAAGAAGTCTCTCCTACTGACCCATGGCTAGGAAACAGCAGGGCTAGAAGTGAGTCCCAGGTAAACTGAGGCTGGGATACTCCAGCTGCACACTCACACAGCTACCATGTAAGCTGGTGGTTGGGGCCTGGGCCTGGCAGTCAGGCCACTCCACCTACTCGCTCATGCAAGTCACCTTCCATCTCTGTCTTCTTTGGCACTGTCCTGAGCCTTAAATGAGCTCACACAGGTCAAGTTCTTAGCCAAGTATAACACAAAATCAATGAACAATATGTCTTAGACATGATTATTGCCACATCTTTCACCATAGACGGTAACTGCTTAGGCACAGACTGTGACTTGGTTGTCTTTGATTCAACACAAACCAGTGTCACCTCTGGATCAGAGCCCTCCCGCGTATGAACTGCTCTTGCTGTGTGGTGGGAAATTATCTCCCACTCATCTTCAGGTGAGTCCACTTTCACCTTCTGTGGGATAGACTGCAGACAGTCGGCTACATTTAAATTGGGCCAAAAGAAAGGCAGCAGACACACATCCCCAGTCAGGCTTTGCTTCTTCTGGGCTCTGGGTTCCCCATCTGTATGAGGAGAGCCCCCCAGCTTGGTGATGCCATGAGTCCCTGGGCGGGGCAGTGGGGAGGGTGGGGTGCCTTACCTGGCCCACTGCAGAAAGAGGCGATGATGGCCAGAATGCCCACGATACTCAGGTAGGGGACCCAGGGGGCGTGGTCCTGGGAGAGAACAGGGAGTGGTCAGGTGAGGAGGTGATGGTGTGACCGGAGGACCTGAGTTCCCACCCCAGCTCCTCCTCCATCCATCTGTGTGACCTTGGACAGGTCACTTGATGTCCCCAAGCCCCAGCTTCAGCATCTATAACATGGGAACAATGATAACCCTTCGGTCACTCCATCTGCTTATTTTATAGCCATGATGAAATCAGATGAAGCCTGTGATGAGTTTGACATAGTCCTGGCATACAGGAAGTGGTAAATAAATCAATAACTCACATTGATTGAGGGCTTAGTTGGCATCAGGCAATATGAGCAATTTTCACAGCTTTATCACATTTATAAAAGTTCATCATTCTCAGCAAACTGACACAAGAACCGAAAACCAAACCCCACATGTCTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACATGCTGGGGCCTGTTTTGGGGGGTGGGGGGCTGGAGGAGGGATAGCATTAGGAGAAACACCTAATGTAGATGATGGGTTGATGGGTGCAGCCAACCACCATGGCACATGTATACCTATGTAACAAACCTGCACGTTCTGCACATGTATCCCAGAACTTAAAGTATATATATACATATATATATATATATGTATATATATGAATGTTTCCTCATATACATTTTAAAGGCTTCTATATTTTGCTTAAAAGAAGTTATCTTAGTTCTGATATTATTACATAAAGGACCTTATTTGTACCCCTGCCATCTTGCAAGGTGTGAGATGCGTTAATTCATTTCATGGAATATGTCTGGAGAAGCTGTCACTCATCCGGGGGGTGGGTGGCTTGGTGCTGGTTGGGATTGCTCCTGCTCTAGCAGACTGGACAGCTGAGCATTAGAACACAGTGTCACCAGTTCTGAATCTGTGGGGGTGCCAGGGCTGCCCCAGGAGAGGCCACCTGACTTGAAGGGAAGGTAAGAGCCTGCGTTCATCTCTGTAGGCTGAGCCAGAGTCAGCCCAGTGGGAAAGGAAAGGAAAGAGGTTCCAGTAGGGGGTTCAGCATACACAAGGGCATAGAATCCTAAGAGGGCACCATCGGCGGGGGGGTAAGCTGCAAACAGTCTGGAGTGGAGGGCGAGGGGTACAGAGGGCAGACAGAGGAATGGGGAACTCCCTCCTTCCCCTTGTTCTATGTCCAAATCCATTAGCTTTAGGGGTTGAGAGGAGCTTCATGGACTCTTGTACACTGTATGGCTTGCTTCTGTACCAAGTCACTCACTCACTCACTAATTCAGCTGATTGATCCGAGCTGCCCCTGGGTGCCAGGCACTGGGATGGGAGGTGGAAATGCAGATATGGTTCATGCCAGGCCCTTGCCCTACACAACTCACTCACTGTCTATTTGGAGAGAGACATGTGCCAACAGTGAAAGTCAATGGTATGTGATAAGTGATCTCACAGGGTTCCCCCTTGGGGCTTATGGGAACACAGGAGAGAGCACCTCACCCAGACTTGGAAGCAAGGGGAGGCTTCCTGCAGGAAGAGGTGTCCAGGAATGTCCAAGGCCTCCTGAGTCCAGAGCAAGGAGAAGCTAGCCAAGCACAGAAGAGCCCTAGGAGAGGAAACTGCCAGGTTCCTTGAGGAGCTGCCGGGGGCAGGGTGTGGGGCACTGGAGGAGACAAGGGTGGCCAAGCCAAGAACAGCTCTGAAACCTTGTGAAATGAGGCTTAGATGGGGTTTGTGGGCTTCAGGCTTTCCTTTTAAACTTCGGACACAAGTTTCAGAAAGACAATGGCCTGGAACATCGCCTAACTGGCTTCCTGAGAACTTTGAAGGACTGTAAAGATGCTGGAGCTTGGGACAGCTTGGGCCTGGCTGTCAGGAAGGAACTGCATCTGCCAGCACATTGTCCCTGAAGGCAATGCTTCCACCTCCTGCCGGTCAGCGTGCTTGCCAGCCCCACCTCTTCAAAGGGCACCCATCAGCCACCACCATGCTAACAGTGCCTTCTTCTAGAAACATTTGGGCCACT
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TTCCCTGCCAGCCTTTGCTCAGTTATTTTATTCCCTCTCTAACAAGTACTTGTGGAGCCTTACTATGTCTTCAGCACAGTTCTAGGTTATCAGGATAAGATTGTGAACCACACACCAGGTCCTTTCATGGAGCTTATTTTCTAGCCTGGAGGAGACACACATTAAAGACAGACTGCAGCACACAGGCCGCATGCAGCCCACTGCCTGCTTTTGTAAATAAAGTTTTACTGGGACACAACCATGCAGTCCATTCATTTACTCGTTATCTATGGCTGTGTCCACACTACCATGGCAGAGGTGAGTAGTTGTGATAGAGAATGCATGGTCTGTGAAATAAAAGTATTTACACCTGGCCCTTTGCAGGAAAAATCTTCCCATGTCTGCATTAAACAAATGAGTACGCAGGAAACCAACATGCCTGTGAACAATGCTATGATGGGTGATGAGATAGAGGGTAGGTGTGCATGTGTGTGTGAGTGTATATAGTAAATGTGTGTGTGCTGGTTTTAGAATAAGTGGCCAGGAGAGGCCTCACTGAGCAGCTGACATCTCAGAGGGGACTTCCACACCAGAGGCAAGCCCCTCTGGGAGCAGAGACTGCTCCTGTCTGGTTTGCTCACGCATGTCCCCAGGCTAGCATAGGGCCGTAGGCTGGACACCTCCAGAGCACTGATGTGAAGATGTGGATGTGAGGTTGTGATGCAGATGCCCTGGAAGACTAAACACATTTACTCCTCGCGTCCACTGTAAACTACAACATGTGCTGTGTGTTCATCCTCTAATTCGCTGCCCTGCCTGGGAGGTGCTTGCTTTCTTTTTCTTGCAGCCGTTCTGACCACCCTCATAGCACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGTGTGCATGTATGTGCACCTGATGCCCTCCCCAACCATTCCATGGCCCACCTTGCCACCTTGCCATCTTATTATAATATCCCGATGTCCTGAATGGACACTTTCCATCCACCATGAATGCAATAGAACCTGGAATGTAATGGCTTACGAGAATCAGCAACACAAAGGGAGAAACAGAAGTTCAGTTCCCTTTGTTCTGATAGAAACTTACTGTTTGCATCCACCAAGAAACACAACCAAAGAACAGCCATGAATATCATCCCATGAGAGAGCACATGGCTGTGTCAGACCCTGCCCTGAGCCCCCCTTCTCAGTCTGACCTTGGACTCTGCTGGAGGTCCCTGCTGGACGTGGACACAGGGCCAGGGAATGGTAGGGTCCTCAGTTGCATTGCATCCTTGTCGTTGTACAGATGGGGAAACTGAGGCTAACAAAGAGAAGAAGTCTCTCCTACTGACCCATGGCTAGGAAACAGCAGGGCTAGAAGTGAGTCCCAGGTAAACTGAGGCTGGGATACTCCAGCTGCACACTCACACAGCTACCATGTAAGCTGGTGGTTGGGGCCTGGGCCTGGCAGTCAGGCCACTCCACCTACTCGCTCATGCAAGTCACCTTCCATCTCTGTCTTCTTTGGCACTGTCCTGAGCCTTAAATGAGCTCACACAGGTCAAGTTCTTAGCCAAGTATAACACAAAATCAATGAACAATATGTCTTAGACATGATTATTGCCACATCTTTCACCATAGACGGTAACTGCTTAGGCACAGACTGTGACTTGGTTGTCTTTGATTCAACACAAACCAGTGTCACCTCTGGATCAGAGCCCTCCCGCGTATGAACTGCTCTTGCTGTGTGGTGGGAAATTATCTCCCACTCATCTTCAGGTGAGTCCACTTTCACCTTCTGTGGGATAGACTGCAGACAGTCGGCTACATTTAAATTGGGCCAAAAGAAAGGCAGCAGACACACATCCCCAGTCAGGCTTTGCTTCTTCTGGGCTCTGGGTTCCCCATCTGTATGAGGAGAGCCCCCCAGCTTGGTGATGCCATGAGTCCCTGGGCGGGGCAGTGGGGAGGGTGGGGTGCCTTACCTGGCCCACTGCAGAAAGAGGCGATGATGGCCAGAATGCCCACGATACTCAGGTAGCGGACCCAGGGGGCGTGGTCCTGGGAGAGAACAGGGAGTGGTCAGGTGAGGAGGTGATGGTGTGACCGGAGGACCTGAGTTCCCACCCCAGCTCCTCCTCCATCCATCTGTGTGACCTTGGACAGGTCACTTGATGTCCCCAAGCCCCAGCTTCAGCATCTATAACATGGGAACAATGATAACCCTTCGGTCACTCCATCTGCTTATTTTATAGCCATGATGAAATCAGATGAAGCCTGTGATGAGTTTGACATAGTCCTGGCATACAGGAAGTGGTAAATAAATCAATAACTCACATTGATTGAGGGCTTAGTTGGCATCAGGCAATATGAGCAATTTTCACAGCTTTATCACATTTATAAAAGTTCATCATTCTCAGCAAACTGACACAAGAACCGAAAACCAAACCCCACATGTCTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACATGCTGGGGCCTGTTTTGGGGGGTGGGGGGCTGGAGGAGGGATAGCATTAGGAGAAACACCTAATGTAGATGATGGGTTGATGGGTGCAGCCAACCACCATGGCACATGTATACCTATGTAACAAACCTGCACGTTCTGCACATGTATCCCAGAACTTAAAGTATATATATACATATATATATATATATGTATATATATGAATGTTTCCTCATATACATTTTAAAGGCTTCTATATTTTGCTTAAAAGAAGTTATCTTAGTTCTGATATTATTACATAAAGGACCTTATTTGTACCCCTGCCATCTTGCAAGGTGTGAGATGCGTTAATTCATTTCATGGAATATGTCTGGAGAAGCTGTCACTCATCCGGGGGGTGGGTGGCTTGGTGCTGGTTGGGATTGCTCCTGCTCTAGCAGACTGGACAGCTGAGCATTAGAACACAGTGTCACCAGTTCTGAATCTGTGGGGGTGCCAGGGCTGCCCCAGGAGAGGCCACCTGACTTGAAGGGAAGGTAAGAGCCTGCGTTCATCTCTGTAGGCTGAGCCAGAGTCAGCCCAGTGGGAAAGGAAAGGAAAGAGGTTCCAGTAGGGGGTTCAGCATACACAAGGGCATAGAATCCTAAGAGGGCACCATCGGCGGGGGGGTAAGCTGCAAACAGTCTGGAGTGGAGGGCGAGGGGTACAGAGGGCAGACAGAGGAATGGGGAACTCCCTCCTTCCCCTTGTTCTATGTCCAAATCCATTAGCTTTAGGGGTTGAGAGGAGCTTCATGGACTCTTGTACACTGTATGGCTTGCTTCTGTACCAAGTCACTCACTCACTCACTAATTCAGCTGATTGATCCGAGCTGCCCCTGGGTGCCAGGCACTGGGATGGGAGGTGGAAATGCAGATATGGTTCATGCCAGGCCCTTGCCCTACACAACTCACTCACTGTCTATTTGGAGAGAGACATGTGCCAACAGTGAAAGTCAATGGTATGTGATAAGTGATCTCACAGGGTTCCCCCTTGGGGCTTATGGGAACACAGGAGAGAGCACCTCACCCAGACTTGGAAGCAAGGGGAGGCTTCCTGCAGGAAGAGGTGTCCAGGAATGTCCAAGGCCTCCTGAGTCCAGAGCAAGGAGAAGCTAGCCAAGCACAGAAGAGCCCTAGGAGAGGAAACTGCCAGGTTCCTTGAGGAGCTGCCGGGGGCAGGGTGTGGGGCACTGGAGGAGACAAGGGTGGCCAAGCCAAGAACAGCTCTGAAACCTTGTGAAATGAGGCTTAGATGGGGTTTGTGGGCTTCAGGCTTTCCTTTTAAACTTCGGACACAAGTTTCAGAAAGACAATGGCCTGGAACATCGCCTAACTGGCTTCCTGAGAACTTTGAAGGACTGTAAAGATGCTGGAGCTTGGGACAGCTTGGGCCTGGCTGTCAGGAAGGAACTGCATCTGCCAGCACATTGTCCCTGAAGGCAATGCTTCCACCTCCTGCCGGTCAGCGTGCTTGCCAGCCCCACCTCTTCAAAGGGCACCCATCAGCCACCACCATGCTAACAGTGCCTTCTTCTAGAAACATTTGGGCCACT
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Task1_train_8454
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The variant affects gene SLC2A9 (solute carrier family 2 member 9), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Hypouricemia, renal, 2
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GAGAGACTGTTTCTAACACACTCGCAATTAATTATAGAAATCGTCATGCATATGACAACCACAAATGTAAAATGTGAGTTGTTTCTGTTTTTGCAAAAGAAGAAACTAAAGTCATAGCCGTAATAACCCAGAATGGTCATAATAAAAGATCAGAAGCAGATGCCTCTGAGGTGACCTCGATTGGCTGAAATATAAAAAGTCACTTATAATATCACAGAAAAGTACACTTAAGAATGGTCAAAATGGTAAACTTTATGTGGATTTTACCACAATAAAAAATGTTCAAAACATTTAAAATTTGCTTTAAAAATGGAATACAGTGATTCCTCCACTTATAAAACCTTCCACTGAATGAGAAAGGAGCTGGCCCTAGAGTCAGTGAGGCTCAGTAGCTGGGACAGAAAGGACCCTGTGGGCAGAATTAGCCCCTTCTCTCCAGAGCGCCCACATTCCCAGAAACACCAGTGTGATCCATCCTTGGATGTGTAAGACACAACCCATACGTGGCTTTGAAAGCACACAGACCCGGGTTCTGGTTTCAGCACCAATATGCCCTTGTTTGTGAGAGCTCTGTCCCTTACCTCTCTCTGCTTGCGTCCAAGGCTGCATATCTGAGCTACTCACAAAGTAGCTGTTAGGATTTGAGCAGCATAACAAATGAGTCTTTTACATAACTGCTCTAGGACGTGCGAATTTGTTATGTTTGCCCCCTGCTGCTAGAATTCAGCTCCACAGGGAGCTGTTTGTCTGTTGTGCACTGTTCGTGCCTAGAACAGTCTGGCATGAAGTGGGCATTCGACCATCATTAGTGGTTTAATCTCTGCCTACCCTCCTGCCCTGCCTGTGTGAGTGGGAAGGCAGCGCCCCTGCATCCCTGGGAGGCATCCCCTGGGAGGAATCCTAGCAAGTCCAGTGGCCTCTTTATCCCCATGTCTACCACCTCAGTCGCAGCTGCATCCTTCCCTTACCATGTGTACCAATAGCAGCAGCCCTCTGCCTCTCTCCTCCCCACCCTTCCCACTCTAGTCTACACCCACCGCCTCCACCCCAGAGCCACCTTCTAACACTGATCTGGCCATGTCACCCTCCAGCTCCAGTGCCATCCAGGGCTTCCTATTCCCCCAGGGTGAAGTCTGTGGTGGCTCAGTGAACAGACGCTTCATCTCTCACCCTCCCCATGCCTGCTTTCTCCTCAGCCCCACAGCCATCTGAGTTCTTTCCCAGGGCTGTGCCCCATCTTGAGCCTTTTCTTTACTGATTTCCTTTCTCTGGTATATCCTCTGTCCCAATCCCCATCATCACCTGCCTAACTCCTGCTTACCCTTCAGGAGTCCATTTAGAGGCCACCTCTTCTAAAAAGCCTTCCTTGAGTTTACCCCACCCCATTCGACCTGAGTGAAATGTTTCTTTTCTCCCTGCTAAGGCCACACAGCAAGTAAATCATCGAACTGGGATTCAAATTCAGGCCCACCTGCTCCCAAAACAGCAAGCCAAAACCGGAAGACTCTACTTACTTATCTATTCAGGAAAAAAGAGACTAAAGAATGAGGTAGAGCTAAGCTAACGTCTTGAAAAGATGCCCAAAATATATTAAATGAAAACACCAGGTTGTAGAACAATGTGTATGGCATAATTCCATCAAAGCCACAATAAACTATATATGTTTATATAGGTTTTTAAAGCACAGAAGATGCCTAAACAAACACAAATTGAGCTATTAATGATAATTACTGGGTGGGTGGACTTAAACATTCTATAAGGTTTCAATTTGTTATGTATTCTTTATGTACTTAAAAAAAATAAACTCAAAGGAACTCCACAACTTTTCTCCAATAATAAGTAAGAGGCTTGAATACCAGAAATTGCAAAATACAGGGACCAGCTTTTGGAGAAAAGGCTCCTTCCTGCAGTGGTAACATGAGATGAGAGCAGATGCGGTTGACCAGGGAGCCACACTCACCTTTCCCAGCAGCTCGGGCAGGCCCAGAAGCTGCCCAGTGAACACGCCAATGCAGATAAAGATGGCAGTCACCTGCCCCAGAGAGCCACGGATCTCCTTGGGTGAGATCTCACTAAGGTACATGGGGAGCACACTGAGGGCGACGCCTGTAGAGAGAAAGCATAGCAGCAGTTAGAGAGGTGTCTTCCCGGGGGAGCTGCACTCTGGTTACAATGCCTCTCTTGGCTCTGCTTTGCCCTGGACATTAAATAGCACTGTAGCCACGGCATTTTTCCCAGCACTTAGCACAAATTGCCAAAGCTTTCCCATGAACTTTATAATTTAATCCTAAAGTATGACTGGAGGTGCATTTCAGAGGACAGGACACAGCTGATGGTGTTGGTGGAGGTGATGGTATTGATGGTGATAATGACGGTGATGGTGATAACGGTGGTCGTGATGGTAGTGATGGTGGTGGTGATAGTGATGGTCATGATGGTGATGATGATGGTAGTAGTGATGGTAGTAATGGTGATGGTGGTAGTGGTAGTGATGGTAATGATGGCGATGGTGACGGTGATGATGGTGGTGGTAATGGTAGTGATGGTGGTGGTGGTAGTGATGGTCATGATGGTGATGATGATGATGGTGGTGGTGATGACTGTGATGATGGTTGTGGCAATGATGATGATGGTGATAGTGGTGGTGGTAGTAGTAATGGTTATGATAGTGATGGTGGCGATGGTGGTGATAGTGATGGTGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTCACAATGATAATAGCCAATACACATAGTGGCTACCAAGTAACAGGAATCCTTCTCATCTCTTTATATGTATTAACGTTATTTACTTTTAACAATAGTCTTCTGAATTAAATATACTATTACCATTTCTCTTCTAAAGATTAGTAAACTGAGGCACAGAAAAGTTGAGTAACTTGCCTAAATCACCAAGTAATGTCCAGAGATGTTTAAAAAAATTATTTTGCCCAATAGAGCCCCAGTGGGTCTCTGATCTTAGAACTTGCACTTTTCCCACCAGCTAACATTGCCTCTTGTCATAAATTATGGGACTCCGTTATGGCAGATGCTATTATACTCATTTTATAAAAATATAATAGTTTTTTTCTCTAAACCTTCTAGATGAAGAACACTCCAGGAAGATGCCCTGTTGTCCTATTATGGTTTCAAATACTCCGGGAGAACCTGGCTGGATTAGCAAGTCTTAGAGCCTTCTATCATCTCAAAATCCTTCAGGTTTATCATTTGGCTTTAAATTCTTTTTTTTTTTTTTCCAAGATGGGGTTTCACTCTTGTTGCCCAGGCTGGAGCACAATGGCTTGATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCTCCATGTTGGTCAGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGCGCCCGGACCGGCTTTAAATTCTTTATTACAAACAGATCGGCCAGTTCAGGTAATAGCAGCAATATTCCTTTCTTTCTGACCAATTGTCTCACCTTAAGTGCCCTCGAGTTCTTCTCTCTGCTTTGAGAGGGTTGGTGAGAATACATGACATGAAGTCTCCAAGTCCTGGCGTGACTCCAACAGGCCACGTGCCACAAGTCGGAAAGACCGAAGTTTTTTCTTTCCTTCTTGTTCTTCTTTCTTTCCTGCTTCTTTTTGAAAGCTCATAGGAAAAAGGGTCTAAAAGACATTTGTTCTATCTCTGTGGTTTTGTAAAAGGTCCATCTTGGAATGCAGCTTATTTTTAGTTAAGGAAATTCAGAGATCAATTAGTTATATGTTCGAAGGGTCAACTCCCCAGATTAGTCAAAGCAACAAGAAAGGGGATAATGGATAAAATATAAAACTGCCAAACAGAGAATCTCAGTTGCCTCCACTAGGAAAGGACTTCCCAGAAGATCCACTGCAACCTCATCCAGGCTTTCTCCAAAGCAGGCAGGGCCTCTGAAACCCAAAT
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GAGAGACTGTTTCTAACACACTCGCAATTAATTATAGAAATCGTCATGCATATGACAACCACAAATGTAAAATGTGAGTTGTTTCTGTTTTTGCAAAAGAAGAAACTAAAGTCATAGCCGTAATAACCCAGAATGGTCATAATAAAAGATCAGAAGCAGATGCCTCTGAGGTGACCTCGATTGGCTGAAATATAAAAAGTCACTTATAATATCACAGAAAAGTACACTTAAGAATGGTCAAAATGGTAAACTTTATGTGGATTTTACCACAATAAAAAATGTTCAAAACATTTAAAATTTGCTTTAAAAATGGAATACAGTGATTCCTCCACTTATAAAACCTTCCACTGAATGAGAAAGGAGCTGGCCCTAGAGTCAGTGAGGCTCAGTAGCTGGGACAGAAAGGACCCTGTGGGCAGAATTAGCCCCTTCTCTCCAGAGCGCCCACATTCCCAGAAACACCAGTGTGATCCATCCTTGGATGTGTAAGACACAACCCATACGTGGCTTTGAAAGCACACAGACCCGGGTTCTGGTTTCAGCACCAATATGCCCTTGTTTGTGAGAGCTCTGTCCCTTACCTCTCTCTGCTTGCGTCCAAGGCTGCATATCTGAGCTACTCACAAAGTAGCTGTTAGGATTTGAGCAGCATAACAAATGAGTCTTTTACATAACTGCTCTAGGACGTGCGAATTTGTTATGTTTGCCCCCTGCTGCTAGAATTCAGCTCCACAGGGAGCTGTTTGTCTGTTGTGCACTGTTCGTGCCTAGAACAGTCTGGCATGAAGTGGGCATTCGACCATCATTAGTGGTTTAATCTCTGCCTACCCTCCTGCCCTGCCTGTGTGAGTGGGAAGGCAGCGCCCCTGCATCCCTGGGAGGCATCCCCTGGGAGGAATCCTAGCAAGTCCAGTGGCCTCTTTATCCCCATGTCTACCACCTCAGTCGCAGCTGCATCCTTCCCTTACCATGTGTACCAATAGCAGCAGCCCTCTGCCTCTCTCCTCCCCACCCTTCCCACTCTAGTCTACACCCACCGCCTCCACCCCAGAGCCACCTTCTAACACTGATCTGGCCATGTCACCCTCCAGCTCCAGTGCCATCCAGGGCTTCCTATTCCCCCAGGGTGAAGTCTGTGGTGGCTCAGTGAACAGACGCTTCATCTCTCACCCTCCCCATGCCTGCTTTCTCCTCAGCCCCACAGCCATCTGAGTTCTTTCCCAGGGCTGTGCCCCATCTTGAGCCTTTTCTTTACTGATTTCCTTTCTCTGGTATATCCTCTGTCCCAATCCCCATCATCACCTGCCTAACTCCTGCTTACCCTTCAGGAGTCCATTTAGAGGCCACCTCTTCTAAAAAGCCTTCCTTGAGTTTACCCCACCCCATTCGACCTGAGTGAAATGTTTCTTTTCTCCCTGCTAAGGCCACACAGCAAGTAAATCATCGAACTGGGATTCAAATTCAGGCCCACCTGCTCCCAAAACAGCAAGCCAAAACCGGAAGACTCTACTTACTTATCTATTCAGGAAAAAAGAGACTAAAGAATGAGGTAGAGCTAAGCTAACGTCTTGAAAAGATGCCCAAAATATATTAAATGAAAACACCAGGTTGTAGAACAATGTGTATGGCATAATTCCATCAAAGCCACAATAAACTATATATGTTTATATAGGTTTTTAAAGCACAGAAGATGCCTAAACAAACACAAATTGAGCTATTAATGATAATTACTGGGTGGGTGGACTTAAACATTCTATAAGGTTTCAATTTGTTATGTATTCTTTATGTACTTAAAAAAAATAAACTCAAAGGAACTCCACAACTTTTCTCCAATAATAAGTAAGAGGCTTGAATACCAGAAATTGCAAAATACAGGGACCAGCTTTTGGAGAAAAGGCTCCTTCCTGCAGTGGTAACATGAGATGAGAGCAGATGCGGTTGACCAGGGAGCCACACTCACCTTTCCCAGCAGCTCGGGCAGGCCCAGAAGCTGCCCAGTGAACACGCCAATGCAGATAAAGATGGCAGTCACCTGCCCCAGAGAGCCATGGATCTCCTTGGGTGAGATCTCACTAAGGTACATGGGGAGCACACTGAGGGCGACGCCTGTAGAGAGAAAGCATAGCAGCAGTTAGAGAGGTGTCTTCCCGGGGGAGCTGCACTCTGGTTACAATGCCTCTCTTGGCTCTGCTTTGCCCTGGACATTAAATAGCACTGTAGCCACGGCATTTTTCCCAGCACTTAGCACAAATTGCCAAAGCTTTCCCATGAACTTTATAATTTAATCCTAAAGTATGACTGGAGGTGCATTTCAGAGGACAGGACACAGCTGATGGTGTTGGTGGAGGTGATGGTATTGATGGTGATAATGACGGTGATGGTGATAACGGTGGTCGTGATGGTAGTGATGGTGGTGGTGATAGTGATGGTCATGATGGTGATGATGATGGTAGTAGTGATGGTAGTAATGGTGATGGTGGTAGTGGTAGTGATGGTAATGATGGCGATGGTGACGGTGATGATGGTGGTGGTAATGGTAGTGATGGTGGTGGTGGTAGTGATGGTCATGATGGTGATGATGATGATGGTGGTGGTGATGACTGTGATGATGGTTGTGGCAATGATGATGATGGTGATAGTGGTGGTGGTAGTAGTAATGGTTATGATAGTGATGGTGGCGATGGTGGTGATAGTGATGGTGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTCACAATGATAATAGCCAATACACATAGTGGCTACCAAGTAACAGGAATCCTTCTCATCTCTTTATATGTATTAACGTTATTTACTTTTAACAATAGTCTTCTGAATTAAATATACTATTACCATTTCTCTTCTAAAGATTAGTAAACTGAGGCACAGAAAAGTTGAGTAACTTGCCTAAATCACCAAGTAATGTCCAGAGATGTTTAAAAAAATTATTTTGCCCAATAGAGCCCCAGTGGGTCTCTGATCTTAGAACTTGCACTTTTCCCACCAGCTAACATTGCCTCTTGTCATAAATTATGGGACTCCGTTATGGCAGATGCTATTATACTCATTTTATAAAAATATAATAGTTTTTTTCTCTAAACCTTCTAGATGAAGAACACTCCAGGAAGATGCCCTGTTGTCCTATTATGGTTTCAAATACTCCGGGAGAACCTGGCTGGATTAGCAAGTCTTAGAGCCTTCTATCATCTCAAAATCCTTCAGGTTTATCATTTGGCTTTAAATTCTTTTTTTTTTTTTTCCAAGATGGGGTTTCACTCTTGTTGCCCAGGCTGGAGCACAATGGCTTGATCTCGGCTCACCACAACTTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGTTTCTCCATGTTGGTCAGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACTGCGCCCGGACCGGCTTTAAATTCTTTATTACAAACAGATCGGCCAGTTCAGGTAATAGCAGCAATATTCCTTTCTTTCTGACCAATTGTCTCACCTTAAGTGCCCTCGAGTTCTTCTCTCTGCTTTGAGAGGGTTGGTGAGAATACATGACATGAAGTCTCCAAGTCCTGGCGTGACTCCAACAGGCCACGTGCCACAAGTCGGAAAGACCGAAGTTTTTTCTTTCCTTCTTGTTCTTCTTTCTTTCCTGCTTCTTTTTGAAAGCTCATAGGAAAAAGGGTCTAAAAGACATTTGTTCTATCTCTGTGGTTTTGTAAAAGGTCCATCTTGGAATGCAGCTTATTTTTAGTTAAGGAAATTCAGAGATCAATTAGTTATATGTTCGAAGGGTCAACTCCCCAGATTAGTCAAAGCAACAAGAAAGGGGATAATGGATAAAATATAAAACTGCCAAACAGAGAATCTCAGTTGCCTCCACTAGGAAAGGACTTCCCAGAAGATCCACTGCAACCTCATCCAGGCTTTCTCCAAAGCAGGCAGGGCCTCTGAAACCCAAAT
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Task1_train_8455
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Gene WDR1 (WD repeat domain 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Lazy leukocyte syndrome
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GTCTTTTTTGATTTTGGGACTGGTGGTTTTTCCCTCTTCAACAGATTTTAAAAATACATAGTCAAATATATCACTTCTATTCTCTACCATTTTTGTCATTCTTAGAAACACTAGCGTTTGTGTGGCTAAATTCAGTATTTTCTTGCCCTCTTACGGTTTTTGCTGCAAAGACAAGGTAAGCAAGACTATTTTTGTCACCCAGTTTTATCATCACCATTTACTGAATGGTTCACCATTCCCATTGATGTGAAAAGTACCTTCTTCCTAACCCAAAATACACATAGGAACAAAGTCATTTGTGGACTTTTAATTATTAAGAGGCAGCCCCAGCTTCAGATGTTAGAGACTAACATTTTATCCCCTGACTTTTCTAAGAAGCAGTATCCTTAGACTCTTCGAAGACTTTTTTTTTAATTGGGATTGCACATTTAGACAACTTTACAATTGTTACAAAAGTACAAAAGGCAGTTTCAAAGAACAGTGCCTTTCACTTTGCAATGAATTTGGATGTTTGGGAATTTGATTTTTAACATCTAAATGCATGCTATTCCTTACCTGAAAGCTATACAGGCTGCTAAGAATTTGAGAAGTAGATGGGATGCAGACATCATCTGGTCCAGTGTTTTCAGTTGACAAAGAAACTTAGGCTCAGAGAAGGGCAGGGATGTGACCCAGGTCAGAGGGTGATCTGGCGGTATGGTTGGGAGCAGGAACCGAGGGTTCCAGCCCCTTCTCTGGGGCTTCCCTTCCACCACATGATGGATCTGACAATCCTGTGTTCCAAACATTTCCTGCCTGAGGCTGCAGACTGGTAAGACCTCTAAAGCCATGAAAATCCCACAAACGTTCCTCCCCACCCAGCCGCCCCACACACCCCCATCACACAAAGTCAGTGACCCACAGTGAAGAGAAAAGATATTTAATTATTTCTCAGGCTAATCTCTTAAAGCGCTCAAAGTGTTTTCACAAGTGCAAGGGGAGGGATTGTTCTCAGCCAACATTTACCAGTGATTCCGACACACGCAAAAACACTCCCAATCACGGTGCTTTATACTTACTTTTAATTTCTGCACTGAAAAAGAAAAGGAAGGTAAAAACAATGACAGATTAGTTTACAGTGACTTCATCTTTGTCCTTAAATTAACCTTTGCTCTTGAGAGCAGAAGAGGGAAAGACAGGGGAACATCAAAGCATGATGGTGAAACGGTGACCAGGACACCTCGGTCTGGCTAACAAGGGTTCTAAAAACTTGGACACGGTGCCGTCAACGCACTAGTTTGTAAACACTGACAGGCAACAGTTAAGATACATTAAAAAAAAAGGAAAGATACCCACAATTCCATTCTTAAAATCAAGCACAAAATCTGACAATGAAACATATCCAGGGGTTGTGTGTCCCCATCTGATCTGGAGGTGGCGCTCTGAAGGCAGCCACAAGGTGTGAGTCACACACTAGGGAGACAGACATCTGTTCAACACAGAATTCCGGCTTTGCTGAACTGCAATGCATATTCCCTCTTCTCACTAGTACAGAAATGTTCTGCAGGCAGGAACATGAGCCCCCCGGCTCATTCACCTGTACAACCTCCCCTGACAGATAGTGAGAGCCGCGGCGGGGCCAGGGGCTCTGTGTGCTTTGGAGGCTACTGCCTCTGGAATGTTTCGCATTCTCAAGGTTTGGTTGGGCTGTGGGTTTTAGTTATGCTCCACACATTGTTTAGGTGCTCGCTTTATTTTTCATGTGCAAACTGTTACTGTCTAAAGCTTTCAGAAGAACGTGTACAGACACCCTGCAGAGACGAGGGTCATGACTGGGCCCTCCTGCCTCTTGTGGTGGGGTGGGGGCATGGGGGCGCGTCACAGAAATAGAGAAATGACATGTTCCGCTGCAGTTAAACTCTAGTCCCTGATTCGGTCCATCCAGAGGCGGGGGTGGGGCTCCTCAGTAGGTGATTGTCCACTCCTTGACAGAGGCATCATGGGAGGTCGTGACCAGCGTGTGCTCGTCCAGCCAGGCCAGGCTGCTGACATGGTGCAGCCGGTGTGCATCTGGGAAGAAAGGGTGCAATTTAACGAAAAGCCAAACTTCTCTGCAACTATGTACATCTTGGACTAGGAAGATGGAACAACCTGTGCCTAAATCATCTCCAGGGCCAAGAAAATGGCCACGAATCGTTGTAACTCAGGAGCCTGGCACGGTGGCAGTGTGGCTGAATTCTCCACGTGACACTCCTGAACCCCGGGGCCGGGTACCTCTTTTTTGTGTGCTGCAGGGTAATTAGCAGCATCCCTGGCTCCACCTACAGATGCCAGTGGCTCCCTCTCTCCAAGTCTTGACAACCAAGTTCCACAGGAGTGAAATAACAATGTCTTCTTATGTATAAAAGCGATGACATGCAGACACCACACAAACAGCTACACTGTATCCATGCCCTATTAAAATGGGGCAGGCATGACAACCAGTAAGAGGCTGGAACACACAGGACTGGGGGGGCCACTGACTTTCCCCTCTGTGACAGTCACACCGTGGGTGAACAGATTCGATTCCCCATAATCTTGCCTCCACCCAACCGAGATGCCAATAGTGAGACGGTGCCTGTGCGCTTATGGCTCCTCTGTGGCTAGCTCTGCCCATGAAGCCCAGGGAGGCTCCCAGCTGCAGGCAAGGGGGTTCCCACCAGCTCTCTGCTCCCCAGGTCCGGGTGGCCCCCAGCCTCTAGATCTGCAGCCCCACCTAGACAGGGTGAGATTCAGCCCCCACCCCTGCCTGGCACGGCATACATCCTGATGAAGGAAGCCTTGGCCTGCGGGTGGCACAGGTGCCCAGGAGCGCCTTCAACCACCAAGCATGACTTGGCTGTGAGGCCAGGCTTTAGCACTCTGTCCACATCACCAGGCTGGCTCTTTTCCAGATGCAGAACTCAACTATCTGCACGAGAACCCGATGCTGAGGTCACTTCATGTTTGGTGGCCTGTGACCTCACAGTGAAGACACAGACCCCGACCTCCTAATCTCTATCTGACTAGCTCTTGCTGTATTTTTTTCTGGATCCATTTCATTCATGAACTTGTTTGATTCTCACTACCAGACTGGCGATTGCCTTATAAACCAGGACGGACGTTGAAACCTGCTTTGTCTCTCCTCCCTTCCAGACCGGGCTGCCTTCCCTCTTTGCCTGTCCTGCACCTGAAGCCTGCAGCTGGGGAATGGGCTCTGGGGGTGGGCTCAGACATTTTTAAATAGGAAAGGGCCCCATTAATGTTTAACACAAAAGGATGTCTTCAAGGAGAATGGATGAGGGGACTTGACTACACACTAGGAGGAGAGTGGTAGGGGGGCACTCGGGGAGGGGAGGGTTTGGACAACACAGAGCTGCCTTACAATACGTGCATGGCCACGCGGGGACATCACAACCCCCTCAGGGAGAAATGATGACATGCGGGGCTAAATAAAACCTACTGTTACAAATCATTTCACCTGTTTCTTTTTTAAATGTGGCTACCAGGAAATTTCAACGCCACATGAGGCTCACATTATACACTGGACGTGGCTGTCTTAGGGAGGGGGAGACCCTGGTCCCAGGTGGGATTTAAGGGGTGAGTGGGGGAAGTGAAGATGTCAAAAGTGAGGCCTTCACTCAGCTCAGCAGGTGTCCTGTGCATGGGGCCCCCGTGGTCCCTCAGTACGGCCAGCAGCGCAGCTGGTGTTTGCTGGATGGAAGGAGACCCACAACTCTTCCGGGCCACCTGTCTAGAAGCACAGAGGCTACTTAGCCCTGGGGACTGAAGCCAGGGGACAGCCTGTGAGGTGGCCCATGGAGCCCCGAACCATGGGTGGTCCCTGCCAAGGCCTGGGGGCGGAAGTCACCTTGGATCTTGACTCTGGTTTCCGGGTCACTCAGGGTCCAAACATACACCATCATGTCCATGCCACCGGAGGCAAAGTGTTCATTGTCTGGGGACCAGGCCAGGCAGACGATTTTTGCATGGTGTCCATAAAAAACATTGTTCTCCTAGTTGCAGGTTGAAAACAAGAGAGGTGGCAGGTCAGGTTCAGGCCGCAGTTGCCCATATCACCTCGCTTATCCCTCATGGC
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GTCTTTTTTGATTTTGGGACTGGTGGTTTTTCCCTCTTCAACAGATTTTAAAAATACATAGTCAAATATATCACTTCTATTCTCTACCATTTTTGTCATTCTTAGAAACACTAGCGTTTGTGTGGCTAAATTCAGTATTTTCTTGCCCTCTTACGGTTTTTGCTGCAAAGACAAGGTAAGCAAGACTATTTTTGTCACCCAGTTTTATCATCACCATTTACTGAATGGTTCACCATTCCCATTGATGTGAAAAGTACCTTCTTCCTAACCCAAAATACACATAGGAACAAAGTCATTTGTGGACTTTTAATTATTAAGAGGCAGCCCCAGCTTCAGATGTTAGAGACTAACATTTTATCCCCTGACTTTTCTAAGAAGCAGTATCCTTAGACTCTTCGAAGACTTTTTTTTTAATTGGGATTGCACATTTAGACAACTTTACAATTGTTACAAAAGTACAAAAGGCAGTTTCAAAGAACAGTGCCTTTCACTTTGCAATGAATTTGGATGTTTGGGAATTTGATTTTTAACATCTAAATGCATGCTATTCCTTACCTGAAAGCTATACAGGCTGCTAAGAATTTGAGAAGTAGATGGGATGCAGACATCATCTGGTCCAGTGTTTTCAGTTGACAAAGAAACTTAGGCTCAGAGAAGGGCAGGGATGTGACCCAGGTCAGAGGGTGATCTGGCGGTATGGTTGGGAGCAGGAACCGAGGGTTCCAGCCCCTTCTCTGGGGCTTCCCTTCCACCACATGATGGATCTGACAATCCTGTGTTCCAAACATTTCCTGCCTGAGGCTGCAGACTGGTAAGACCTCTAAAGCCATGAAAATCCCACAAACGTTCCTCCCCACCCAGCCGCCCCACACACCCCCATCACACAAAGTCAGTGACCCACAGTGAAGAGAAAAGATATTTAATTATTTCTCAGGCTAATCTCTTAAAGCGCTCAAAGTGTTTTCACAAGTGCAAGGGGAGGGATTGTTCTCAGCCAACATTTACCAGTGATTCCGACACACGCAAAAACACTCCCAATCACGGTGCTTTATACTTACTTTTAATTTCTGCACTGAAAAAGAAAAGGAAGGTAAAAACAATGACAGATTAGTTTACAGTGACTTCATCTTTGTCCTTAAATTAACCTTTGCTCTTGAGAGCAGAAGAGGGAAAGACAGGGGAACATCAAAGCATGATGGTGAAACGGTGACCAGGACACCTCGGTCTGGCTAACAAGGGTTCTAAAAACTTGGACACGGTGCCGTCAACGCACTAGTTTGTAAACACTGACAGGCAACAGTTAAGATACATTAAAAAAAAAGGAAAGATACCCACAATTCCATTCTTAAAATCAAGCACAAAATCTGACAATGAAACATATCCAGGGGTTGTGTGTCCCCATCTGATCTGGAGGTGGCGCTCTGAAGGCAGCCACAAGGTGTGAGTCACACACTAGGGAGACAGACATCTGTTCAACACAGAATTCCGGCTTTGCTGAACTGCAATGCATATTCCCTCTTCTCACTAGTACAGAAATGTTCTGCAGGCAGGAACATGAGCCCCCCGGCTCATTCACCTGTACAACCTCCCCTGACAGATAGTGAGAGCCGCGGCGGGGCCAGGGGCTCTGTGTGCTTTGGAGGCTACTGCCTCTGGAATGTTTCGCATTCTCAAGGTTTGGTTGGGCTGTGGGTTTTAGTTATGCTCCACACATTGTTTAGGTGCTCGCTTTATTTTTCATGTGCAAACTGTTACTGTCTAAAGCTTTCAGAAGAACGTGTACAGACACCCTGCAGAGACGAGGGTCATGACTGGGCCCTCCTGCCTCTTGTGGTGGGGTGGGGGCATGGGGGCGCGTCACAGAAATAGAGAAATGACATGTTCCGCTGCAGTTAAACTCTAGTCCCTGATTCGGTCCATCCAGAGGCGGGGGTGGGGCTCCTCAGTAGGTGATTGTCCACTCCTTGACAGAGGCATCATGGGAGGTCGTGACCAGCGTGTGCTCGTCCAGCCAGGCCAGGCTGCTGACATGGTGCAGCCGGTGTGCAACTGGGAAGAAAGGGTGCAATTTAACGAAAAGCCAAACTTCTCTGCAACTATGTACATCTTGGACTAGGAAGATGGAACAACCTGTGCCTAAATCATCTCCAGGGCCAAGAAAATGGCCACGAATCGTTGTAACTCAGGAGCCTGGCACGGTGGCAGTGTGGCTGAATTCTCCACGTGACACTCCTGAACCCCGGGGCCGGGTACCTCTTTTTTGTGTGCTGCAGGGTAATTAGCAGCATCCCTGGCTCCACCTACAGATGCCAGTGGCTCCCTCTCTCCAAGTCTTGACAACCAAGTTCCACAGGAGTGAAATAACAATGTCTTCTTATGTATAAAAGCGATGACATGCAGACACCACACAAACAGCTACACTGTATCCATGCCCTATTAAAATGGGGCAGGCATGACAACCAGTAAGAGGCTGGAACACACAGGACTGGGGGGGCCACTGACTTTCCCCTCTGTGACAGTCACACCGTGGGTGAACAGATTCGATTCCCCATAATCTTGCCTCCACCCAACCGAGATGCCAATAGTGAGACGGTGCCTGTGCGCTTATGGCTCCTCTGTGGCTAGCTCTGCCCATGAAGCCCAGGGAGGCTCCCAGCTGCAGGCAAGGGGGTTCCCACCAGCTCTCTGCTCCCCAGGTCCGGGTGGCCCCCAGCCTCTAGATCTGCAGCCCCACCTAGACAGGGTGAGATTCAGCCCCCACCCCTGCCTGGCACGGCATACATCCTGATGAAGGAAGCCTTGGCCTGCGGGTGGCACAGGTGCCCAGGAGCGCCTTCAACCACCAAGCATGACTTGGCTGTGAGGCCAGGCTTTAGCACTCTGTCCACATCACCAGGCTGGCTCTTTTCCAGATGCAGAACTCAACTATCTGCACGAGAACCCGATGCTGAGGTCACTTCATGTTTGGTGGCCTGTGACCTCACAGTGAAGACACAGACCCCGACCTCCTAATCTCTATCTGACTAGCTCTTGCTGTATTTTTTTCTGGATCCATTTCATTCATGAACTTGTTTGATTCTCACTACCAGACTGGCGATTGCCTTATAAACCAGGACGGACGTTGAAACCTGCTTTGTCTCTCCTCCCTTCCAGACCGGGCTGCCTTCCCTCTTTGCCTGTCCTGCACCTGAAGCCTGCAGCTGGGGAATGGGCTCTGGGGGTGGGCTCAGACATTTTTAAATAGGAAAGGGCCCCATTAATGTTTAACACAAAAGGATGTCTTCAAGGAGAATGGATGAGGGGACTTGACTACACACTAGGAGGAGAGTGGTAGGGGGGCACTCGGGGAGGGGAGGGTTTGGACAACACAGAGCTGCCTTACAATACGTGCATGGCCACGCGGGGACATCACAACCCCCTCAGGGAGAAATGATGACATGCGGGGCTAAATAAAACCTACTGTTACAAATCATTTCACCTGTTTCTTTTTTAAATGTGGCTACCAGGAAATTTCAACGCCACATGAGGCTCACATTATACACTGGACGTGGCTGTCTTAGGGAGGGGGAGACCCTGGTCCCAGGTGGGATTTAAGGGGTGAGTGGGGGAAGTGAAGATGTCAAAAGTGAGGCCTTCACTCAGCTCAGCAGGTGTCCTGTGCATGGGGCCCCCGTGGTCCCTCAGTACGGCCAGCAGCGCAGCTGGTGTTTGCTGGATGGAAGGAGACCCACAACTCTTCCGGGCCACCTGTCTAGAAGCACAGAGGCTACTTAGCCCTGGGGACTGAAGCCAGGGGACAGCCTGTGAGGTGGCCCATGGAGCCCCGAACCATGGGTGGTCCCTGCCAAGGCCTGGGGGCGGAAGTCACCTTGGATCTTGACTCTGGTTTCCGGGTCACTCAGGGTCCAAACATACACCATCATGTCCATGCCACCGGAGGCAAAGTGTTCATTGTCTGGGGACCAGGCCAGGCAGACGATTTTTGCATGGTGTCCATAAAAAACATTGTTCTCCTAGTTGCAGGTTGAAAACAAGAGAGGTGGCAGGTCAGGTTCAGGCCGCAGTTGCCCATATCACCTCGCTTATCCCTCATGGC
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Task1_train_8456
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The gene WDR1 (WD repeat domain 1) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Lazy leukocyte syndrome
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AAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCAGACAGTGGCCTTCATCTCTGAGTTTTGCCTTTATCCCAGTGTGCCCCTACCCAAGCCACCAGCTGTCATGAGGGAAGGCAGCCTCTGCCCCTACCGTCTGGGCTTCTGTTTCTGCGTGGATTGTGGGTGGATCGCGATGAATGGTAGCAGCACCCTGACTAAAACCTACTACTGAAGAGGCACCTCTGTCATCTGCCCGGCTCTGGAGGTGGCCTTACCTACTCACAGGTGAAGAATGAGGGCCTAAGCATTTGCCTGAAGCTTCGTCCGACATGAGACTTGAACCTGGTTGTTTCCTGATCTAAAATCCCAGGCCCCTCCTAGCACCCTCCTAACTCTTTGACTGGTGACAGGGAGCTCTGCAGAAAATTCTGACCCAGAGCAGGGGTTCCAGATGCCCTGGGAGGATCAGGTAACAGCAGATCACAGAGAAATGCCACATGAGGAGGTGCAGAGACCTGGAGCCTGTCCCCTGCACACCACAACCCTACCGGGGTCCTTTCTAACCTCCTGGGCAGCAGGCGCCAGCTGGGCCAGTCTGAACATCCTCTCAGCCTCAGGGGAAAGGGTGGCCTATGATGACCACAACTTTACAGATGAGGAAACCTGGGTCTGGAGACACAGGGCACGCTGCCCTAGGCCTCATCCCCTCACCCACAAAGCCCCATGTGCAGACCCCTTGGCTGGGAAGAGCCCTGCTGTGCAGAGATAGGCCACCTGCCAGCCTTCTAGAACTCCGCTTTGTAGCGTTTCCCCCAGGCCCCGAGGCGCTCCATGTGTGGATTCCCTTTGCACCTCCCCACCCCCACTGGCTGTCCAGGCTGTTTGCAATAATTACTTGGCAGGGATTTCTTATTATCTAGGACACAGAGAAATCCACTGTCCCTAACGCAATTAAGTTCACAAGGCAAAGGAGGGCCAGAGGGTGCTGAAAGCAGCTTTCTTTAGCAGGGCTCGCCACTCGTGCCAACAGGTGCCCCTTGACTTCCCCGGTCTACATGCCAGCAAGCCTAGGCCCGCCAACAGATAATATCTTCTGCAGGGCAGAATTCTGTATAAAGTGGGTCAGGCTTGGGTCTCAGGTGGCTTTGGTCCAGATATTCCAAAGGTGTGCAGGTGGCCCCACTGTCTGGGGTTAGAAGCCAGGCCGGGAAGTCAGGTGCCACCCTTCTGCATGTGGGAAAGTACCAAGCTGCTCTAGGCCTCAGCCTCCTCATCTGTAAGAGGAACCAAGATGGTGTAAGGAGACTTACATGTACTTCCTCATAATCACCTGGATCTGTGAGTGCTGGGGATGGGAAACTAAGGCTCAGAGAGGGTGAGGTAAATGCCGGAGGTCACACAGCTACAATGCAGCAGGGCTGGGATGTGAACAGGAGCAAAGGCAGGCCCACCCCACAGGGTATCTCATAGACTTTACAGGCTGACAGGCAGGCAGCGTGGTCTGAGGCTTAGAGACAAATCCCAGCTCTGCCCTCCGACCAGCTGCGGCCTTGGACAACCAATTTATCCATTCCGTGCCTCCATTTCTTCATCTGTACAACTGATGTGATGGTGGTGAGGATTAAATATGTGAGATCCCTTAGTGCAGTGCAAATGAGCACTCAACCAAAACACTGGCTAGAGCAACTGTCAAACGGGACATGAGTCAAATTCAGCAAGCAGGCACCACACAGCTGCAGGCTCCCACCCAAACACTAAGCCAGGTCCCTACCTGTCCAATGCACACGACCACGGCGTATCCCCCGGGGCCGACGGCTACGCACTTTGGCTGAACGTCCAGTTTCACAACTCCTTGTCCGCTGTTAGAGAGAAAGGAAGCACATTACTTCGACAATGCAGCAGCTCAGGGTAGGTATGCATACATATTTACTGTTAAACCACAGTTTTGCTCCTTAGAAGGCAATTCTATTGCCACCTATACTGGAGAGACTTGCTAAAATATGGGATGGTAGCGAAAAAACGATCCATGACTCTGGTGCAAAGAGATTATAAGTCATAATGGGGGCCCGGGGAGGGGTGGGGGGGGGGGAAGGAGGGGCGGGAGGCGGTGAAAGGCGTTGATTATGCTCCTATTTATCTGTGGTAAGCCCTCATTACACCCAGATGTGGCTTTTGTCCCCCTGTCTGTTGGCTAAAGACTGGAGTTTACTGAGCACAGACAGAATTGAGCTCTGCTCCCCAAAATGGATGGGTAACTTTTAAGAATCCGTTACCTTTAATGGGTGAAAATCATGTTATTTTTAGCCTTGGCCAATGCTATCAAAACTTGTTCTAGAAAGACTCATACACACAAACTTCTTGAAAACTGAGATAATCAAGGAAATTTCTGTGTCACTCGGCCAAGTGTGGCATCCCCAAAGGCTCTGCAGCAAGGTCACCAGGCCAAGGCTGGCTCTGTAAGGGCCTTGCCTTGGGTTATCTGGCCCAGGGAAGACCCTTTTATGGGACGTGTTAAGAGTGGGGTCACCACAGGGCAGTAGAAAGAGGACCAGGGCCCAGATGCCTGGGCTCTGGGGCCGCTTCTGCCACTCATCGGGAGGCCCAATTTACCTACAGATGCCCAGTCTGCCAGGCAGGCAGGGCCTGTGTTACCTACAAGGACGGCACACCTGCTAGGAGTTGCGTGCTGCACCCTGTGCCAGGCTCCCATCAACAGGCCCCAGGAGTCCCCATCTCCCAGGCAACACGACTTAGGCAGGACTACCGGGTGACAAAGGGGTCTACACAAGAAATGTAGGGCCAGAGGAGGGGTCAGACCTGGGCATGGGGACACTGGATGTGCAGTGGCCTCGTCAGGTCCTGGAACATTTCTCTTTCAAGTCCCTCCAACTGCATTTAGGACTTCAGATCACTTGCAAACTGCTACTCTCCTAGCTCCACTGACTGCCAATCAAAGGCCCAAGACCAAAAACAAACAAGACATTGTCTTTTAACCAGATCACTGTGTGCCCATCTCACCCTTGAGCAGAAGGGGAATGCTGTCTTGTACTCAGCACCTGCCCTGTGCCAGGCTCACCTAATCCACAACAGCCTGAGGCAGGCTCCACTGTACCCGCCTTTACTGATGAGGAAAGGGACACAGGGAGAGACCGCAGCAGGTTCCTGGAGAACAGGGCTGTGATCTGCTGCCCCTGCTTCCAGGGCAGAGTCCACACCTGGTCGTTGTCTGTGGGCAAGAGCATTACCCAGACCACCTGGATCTGTAACACAGTGCTGGGCTCAGGGCCCAACAACAGGAGAACAATGCTGGGGACGGGGTGGGAGAGATGAAAGGAGCAAGTGAGGCGTCCTCCAGAACAGTAACTGCTGGAGGGCACAAGCCCTCCGAGGGGAGCTGAGGCTCATCCGGAACCCCCGCAGACCCGAGTGCTCTCACCTGTAGTCCCGCAGCATGAGGCTGGTGTACCGCACGGTGTCGTCCATGCTGCAGCTGATGAGCTGCCCCGACTCATCCACGGTCATCCTGGACACCTGGTTCGTGTGGCCTTTCCCAGCGAAGGAGTCGTTCTCCCCCGTCTCTGAATCCCAGTAATGTAGGGTGGGGTTAAGGAAAAGCCCGGCTCCCAGGACTGCTGGGTGTTCTCAGGTGTGGCTTCAGTCCTAAGATTCTCCATTTACATCAAGAATGAGAATCTCGCCGCAAACGGACATAACCATTCCCCCTGGGAAGCCTGCAGTGTCCACTGTTGACACGTTCTTAGGAAGGGGTATCTGAAGTGTGGGTGCACCACACAGGGATTGGGATGAGGCAGAAAGGGAGCCGTGCTGAAGGC
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AAGAAAGGTACTAACAACAGTAAACAAAAACAGCGACAGCCCCTAGGCACGTGCCAGCGCTCTGCTGTGAGTGTTCCAGCCCCACAAGGCAGGGATCGGGTTCCCCGTTTCAGAGAAGAAAATGGGGTACGGTGCTTATGCTGCACGCCCAAGGCTCCAGTTCCCACAGGCTGAGCCGGGACTCGCCCAGAATCCAAGCCTCGGCACCCGCACTGGGCCTTTGCCTCTGGTACATGCAGCAGAGGCTCTGCAGCGGGGGCCTTCCTTCCATCTCCCTTCCTTGTCAATTCTTCCGGTTCTAACTTACTCAACTGCTCCCAGACAGTGGCCTTCATCTCTGAGTTTTGCCTTTATCCCAGTGTGCCCCTACCCAAGCCACCAGCTGTCATGAGGGAAGGCAGCCTCTGCCCCTACCGTCTGGGCTTCTGTTTCTGCGTGGATTGTGGGTGGATCGCGATGAATGGTAGCAGCACCCTGACTAAAACCTACTACTGAAGAGGCACCTCTGTCATCTGCCCGGCTCTGGAGGTGGCCTTACCTACTCACAGGTGAAGAATGAGGGCCTAAGCATTTGCCTGAAGCTTCGTCCGACATGAGACTTGAACCTGGTTGTTTCCTGATCTAAAATCCCAGGCCCCTCCTAGCACCCTCCTAACTCTTTGACTGGTGACAGGGAGCTCTGCAGAAAATTCTGACCCAGAGCAGGGGTTCCAGATGCCCTGGGAGGATCAGGTAACAGCAGATCACAGAGAAATGCCACATGAGGAGGTGCAGAGACCTGGAGCCTGTCCCCTGCACACCACAACCCTACCGGGGTCCTTTCTAACCTCCTGGGCAGCAGGCGCCAGCTGGGCCAGTCTGAACATCCTCTCAGCCTCAGGGGAAAGGGTGGCCTATGATGACCACAACTTTACAGATGAGGAAACCTGGGTCTGGAGACACAGGGCACGCTGCCCTAGGCCTCATCCCCTCACCCACAAAGCCCCATGTGCAGACCCCTTGGCTGGGAAGAGCCCTGCTGTGCAGAGATAGGCCACCTGCCAGCCTTCTAGAACTCCGCTTTGTAGCGTTTCCCCCAGGCCCCGAGGCGCTCCATGTGTGGATTCCCTTTGCACCTCCCCACCCCCACTGGCTGTCCAGGCTGTTTGCAATAATTACTTGGCAGGGATTTCTTATTATCTAGGACACAGAGAAATCCACTGTCCCTAACGCAATTAAGTTCACAAGGCAAAGGAGGGCCAGAGGGTGCTGAAAGCAGCTTTCTTTAGCAGGGCTCGCCACTCGTGCCAACAGGTGCCCCTTGACTTCCCCGGTCTACATGCCAGCAAGCCTAGGCCCGCCAACAGATAATATCTTCTGCAGGGCAGAATTCTGTATAAAGTGGGTCAGGCTTGGGTCTCAGGTGGCTTTGGTCCAGATATTCCAAAGGTGTGCAGGTGGCCCCACTGTCTGGGGTTAGAAGCCAGGCCGGGAAGTCAGGTGCCACCCTTCTGCATGTGGGAAAGTACCAAGCTGCTCTAGGCCTCAGCCTCCTCATCTGTAAGAGGAACCAAGATGGTGTAAGGAGACTTACATGTACTTCCTCATAATCACCTGGATCTGTGAGTGCTGGGGATGGGAAACTAAGGCTCAGAGAGGGTGAGGTAAATGCCGGAGGTCACACAGCTACAATGCAGCAGGGCTGGGATGTGAACAGGAGCAAAGGCAGGCCCACCCCACAGGGTATCTCATAGACTTTACAGGCTGACAGGCAGGCAGCGTGGTCTGAGGCTTAGAGACAAATCCCAGCTCTGCCCTCCGACCAGCTGCGGCCTTGGACAACCAATTTATCCATTCCGTGCCTCCATTTCTTCATCTGTACAACTGATGTGATGGTGGTGAGGATTAAATATGTGAGATCCCTTAGTGCAGTGCAAATGAGCACTCAACCAAAACACTGGCTAGAGCAACTGTCAAACGGGACATGAGTCAAATTCAGCAAGCAGGCACCACACAGCTGCAGGCTCCCACCCAAACACTAAGCCAGGTCCCTACCTGTCCAATGCACATGACCACGGCGTATCCCCCGGGGCCGACGGCTACGCACTTTGGCTGAACGTCCAGTTTCACAACTCCTTGTCCGCTGTTAGAGAGAAAGGAAGCACATTACTTCGACAATGCAGCAGCTCAGGGTAGGTATGCATACATATTTACTGTTAAACCACAGTTTTGCTCCTTAGAAGGCAATTCTATTGCCACCTATACTGGAGAGACTTGCTAAAATATGGGATGGTAGCGAAAAAACGATCCATGACTCTGGTGCAAAGAGATTATAAGTCATAATGGGGGCCCGGGGAGGGGTGGGGGGGGGGGAAGGAGGGGCGGGAGGCGGTGAAAGGCGTTGATTATGCTCCTATTTATCTGTGGTAAGCCCTCATTACACCCAGATGTGGCTTTTGTCCCCCTGTCTGTTGGCTAAAGACTGGAGTTTACTGAGCACAGACAGAATTGAGCTCTGCTCCCCAAAATGGATGGGTAACTTTTAAGAATCCGTTACCTTTAATGGGTGAAAATCATGTTATTTTTAGCCTTGGCCAATGCTATCAAAACTTGTTCTAGAAAGACTCATACACACAAACTTCTTGAAAACTGAGATAATCAAGGAAATTTCTGTGTCACTCGGCCAAGTGTGGCATCCCCAAAGGCTCTGCAGCAAGGTCACCAGGCCAAGGCTGGCTCTGTAAGGGCCTTGCCTTGGGTTATCTGGCCCAGGGAAGACCCTTTTATGGGACGTGTTAAGAGTGGGGTCACCACAGGGCAGTAGAAAGAGGACCAGGGCCCAGATGCCTGGGCTCTGGGGCCGCTTCTGCCACTCATCGGGAGGCCCAATTTACCTACAGATGCCCAGTCTGCCAGGCAGGCAGGGCCTGTGTTACCTACAAGGACGGCACACCTGCTAGGAGTTGCGTGCTGCACCCTGTGCCAGGCTCCCATCAACAGGCCCCAGGAGTCCCCATCTCCCAGGCAACACGACTTAGGCAGGACTACCGGGTGACAAAGGGGTCTACACAAGAAATGTAGGGCCAGAGGAGGGGTCAGACCTGGGCATGGGGACACTGGATGTGCAGTGGCCTCGTCAGGTCCTGGAACATTTCTCTTTCAAGTCCCTCCAACTGCATTTAGGACTTCAGATCACTTGCAAACTGCTACTCTCCTAGCTCCACTGACTGCCAATCAAAGGCCCAAGACCAAAAACAAACAAGACATTGTCTTTTAACCAGATCACTGTGTGCCCATCTCACCCTTGAGCAGAAGGGGAATGCTGTCTTGTACTCAGCACCTGCCCTGTGCCAGGCTCACCTAATCCACAACAGCCTGAGGCAGGCTCCACTGTACCCGCCTTTACTGATGAGGAAAGGGACACAGGGAGAGACCGCAGCAGGTTCCTGGAGAACAGGGCTGTGATCTGCTGCCCCTGCTTCCAGGGCAGAGTCCACACCTGGTCGTTGTCTGTGGGCAAGAGCATTACCCAGACCACCTGGATCTGTAACACAGTGCTGGGCTCAGGGCCCAACAACAGGAGAACAATGCTGGGGACGGGGTGGGAGAGATGAAAGGAGCAAGTGAGGCGTCCTCCAGAACAGTAACTGCTGGAGGGCACAAGCCCTCCGAGGGGAGCTGAGGCTCATCCGGAACCCCCGCAGACCCGAGTGCTCTCACCTGTAGTCCCGCAGCATGAGGCTGGTGTACCGCACGGTGTCGTCCATGCTGCAGCTGATGAGCTGCCCCGACTCATCCACGGTCATCCTGGACACCTGGTTCGTGTGGCCTTTCCCAGCGAAGGAGTCGTTCTCCCCCGTCTCTGAATCCCAGTAATGTAGGGTGGGGTTAAGGAAAAGCCCGGCTCCCAGGACTGCTGGGTGTTCTCAGGTGTGGCTTCAGTCCTAAGATTCTCCATTTACATCAAGAATGAGAATCTCGCCGCAAACGGACATAACCATTCCCCCTGGGAAGCCTGCAGTGTCCACTGTTGACACGTTCTTAGGAAGGGGTATCTGAAGTGTGGGTGCACCACACAGGGATTGGGATGAGGCAGAAAGGGAGCCGTGCTGAAGGC
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Task1_train_8457
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The following genetic variant occurs in WDR1 (WD repeat domain 1) on Chromosome 4. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Lazy leukocyte syndrome
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GGGGCGTCAGCAGCCAGCGCTTTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAGGGCTGACACCTGGAGAACACTGTCGGGGATGGCTCATGGGAAACTGTTTTTCTGGGCAGTAGCGAAGCCTTACTCACCCGTGTACAATTTCTCACCATCCCACTTGGAGGCCCACTGGAGCATGGTCTCGACAAGAGCCCTCAGCTCCCCCAGGCAACAACCTCCTCGGCCCCATGCTGTGCGTGCCTTCCTTTTTATACTCATCACCCTGGGCTGTGAGCCCAGCAAGGAGGCGCTCCCGATTCCCCTCTATCCTCGAGGCCACGTCTAGTGAACCTTTATGGTTCAGCCTTCCCCCTCTCAGCAGTGCTGCTGCCCCCACTGCCCCGGCACAAAGGAACCGTGACTCTATGCATGAGCGTTGAGGTGACCTGGTCCGTAGGAGTCACACACACAACGTTAACGAGGCCCCTTCCTCGTGGGCAAACTCCCATGTAGAATGGATTTGGTGATTCTAGCAGCCCCTCCTAGAAGCCGTGGTGTGAAGGAGCCACTGACAGCACAGCACGGGCCGAGTGCACAGGCCCGGGGGCTGCTCCAGGCTGGCCCACACTAGCCCTGCAGGGTTCAGACCCTCTGCAGAGGCTGGTCCCCCAGAGCTCCACGGCAGCAGGATGCAATGGGTGAGGGAAGTGCTAGGGTTTGTCTCCCCGAGTGGCTTAAAGCAGGAGCCCGAGAAGGGCTGCTGGGATGAAGTGCATTGTCCACCTGCCTTGATATTACAGCTTAGAATAGCAGGAGGGGTCACCCACCCTGGGCCACCAGCGCTGGGGGAACCTGACTTGGAGTTCCCAGCAGATGCAGTGTGGGAAGCAGGCGAGGGCGCTGCTGTGAGAGGAGGACCTGAGGATACAGAAGGGACCCCTGCTCTGGCTCCTGTCCAGCTGCGAGATTCCCAGAGGCGTCAACTTGGCTGGTGTGGGTGGAGGGAGAAGGCAGGACCCCCCCAGCCAATGGAACACAGGGAGCCTTTGGCTCAAGTGAACCCTTCCGGGTTAGGGTTCAGAAGCAGGCACCTTGCTCCTCCCCAGGTTGGCATTTGGGGCCTTCACACCTGGGACCCATGGATGATTCTAACTCCGTTTCCTCCTGCTCCCATCGCTCCCTTATGGAACTCCAGTATCTCCTTCACACCCTGCCCACCACATTCAAACTCCAGGCAGCGCCAAGGCCCAGGCCCAAGGCCACCTGCTCTTGCTCCTCCCTCCTGCCCCTGGACCTCAGCGATGCCCCGTCACCTGCCCTGGTGCTCAGTGAGCTTCTGCTCTTGCCTGCAGTCGGGTAAAGCACAGGCTGTGCACTCCCAATTCAGGGAAGGCAGAGCCCTGCAGGAAGTAACCGCTCTCAACAGCTGGGGGTGATGGCCACTGCCCCGAATCACTAGGCCCTGACTCTCCAGTTCTCACAGTAGCTCAAGGGGAACTTGGCACCTGGCCTGCCACCATGGCTAAACTCATGTCCCAAGAAAGCAACCAGCATCCCAGCCTTCCACCAAAACCCCAAGGGCCAAGGAGGCCTGAGGACACCTCTCTAGCTTCCACCTGGCTTCCCCTCGGTTCCCCTTCCTTGCTGGCCACTCTGGTCTCTTCCCTGTCCACCCAGCGGGCAGAGCCTTCCCCAGGGCAGGCCTTACCTTGATGACGTGCAGGGGCTTGCTGGGGTTGTTTCTGTCCAGATAGTTGATGTACCCGGACAGGGAGACACTGAGCAGGTGGTCCTTCTGCCATAGGCAGCCCAGCTGCTGGTCCAGAACCGTGGAGCCCATGGGAAATGTGCTGACCACGGAGTTCACGCTGACGTCCCAAATCTTGGAAGTTTTGTCCCCAGAAGCAGAAAGCAAATGGGTGCTGTCGGGACTCCAACTAATCTATTCAGAAAAAAGCAGTGTGTCATGTGCCAGAGGACTACAGACTGGAGAGAGACCCCAAAAAGCAGCTTGTCCACTGCGACTGTTTGAGTAGGACAGAAGGAGCCCAGAGAGAGGGTGGGACATGAGTGAGGCCAAGGACAACACCCGCCTCCAGGTCTCCCGTTCCAGCCACTACCTTCTCCCATCACCTTATTGCGACCTTAAAGCTTTTCTGGGCAGATATAAAACCGCCCCGACTTATAGCCCCTCATTTCAAGTTTTTGTCTAACTCCGGAGTGAGTGTGGATGGACTGACACGTGGACTCGGCCAAATTCCCACCACTAGGCCGGGAAACACGCTCATACTCACTGCGTAAATCCCACCGTCGTGGGCCTTGCTTCCGCCCAGCGCGCACACCTTCTCCCCAGTCTTCCCGTCATAGATGTATATCTTCCAAGAAATAAAAACATGTGGGTCATGTGTGTGTGAACACCCTCTGGAGTAAGCAGTTTCTCCATGGACTGTGGCTGTAGAAAACCGGGGCTCACAGACTAAGCTCCCAGTGTGGTTTAAAAGCAGACATGCATTTACTGGGCTCTGACGACGAGTCTGCAGATGTGGGGAGGGCGATGTCTAAGTTCTGCATGTCAGGACTAGCATTAGGCAGCCTGCGGCTCTGAGCAGTCACGGGAGCAGGCAGACAAGCCATTCCCCACCCCAAAACCCATCCCAGTTCTTACCTGGCCGTCAGCACTGGCTGTGGCAAATCTGTTCCCATCAGGAGAGAATCGCACACAGTTGACAAAGCGGCTGTGGTCCTGCAGGAAAACAATTACCTGCCTGATGAGGGGCCGCAGGCCTGACTCTAGGTTCAAGAATGCTCTCTATGAAACACAGCTTGCAGCTCCAGCTGTTCATCAGTGTGAACTGTTAGTCCACTGGAAAATTTCAGAGCTTAAAAAAACATCCTGGGCAGTCCCTTAGTGGAGGGGCAGGAGTCTGCTCCAGCCTGCCTGCCATGCTGACCGCTCTACCTGCTGGGAAAGCTGATTAGCCCGAGCGAAGGCAGACCACCTCCAGTTATGCCCCCCCCAGTGAGGTGCCCCCAGCAGCTGCCCTCTTCCCTCTGGGCTCTGAAAGAGCTCAAGCCCCAATCCTTAAGCTTCACGATGGCTGAGACCAGGAGGCCTCTTCCTGGAGGCACCAGCCCTGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGTGCCCGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCCCTTTGTTAGCCAGGATGGTCTCAGTATCCTGACCTCATGTTTCCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGTCACTGCGCCTGGCCAATAATTAACTTTTAAACAAAGTTAATGATTATGACCTTCATCAAGAACAAGAGCCTGAGCGACTAAAAGGAAATGACATGACTTCCAGGGGCGACTCTGTTACTCGAATAAGGAAATGAATGCATTCTTTCCGCAGTCAACAAGAGTTTGTATCAGAGACTGATCCTTAAATAAGCAGTTGTAAAGCTGCCAACACCTGCCCTGCCCTCTTGCTGCCCACCTGCAGGCGGCGCTAACCCGGCAAATGCACATCCAGTGCTAACAACTCTCTTGGCACAGGAAGGGCTCGCTGCTCAGCAGGTACGAACACTAACCTTCAGGAAAAGCAATTCAACCCCAAGGCGGATAAGCTGCCCCGCGCTCTAAGTAAATCACGGACTTAATTTTAAAGCATGAGCTACCTGTGTGGGGGACCTGCCTGT
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GGGGCGTCAGCAGCCAGCGCTTTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAGGGCTGACACCTGGAGAACACTGTCGGGGATGGCTCATGGGAAACTGTTTTTCTGGGCAGTAGCGAAGCCTTACTCACCCGTGTACAATTTCTCACCATCCCACTTGGAGGCCCACTGGAGCATGGTCTCGACAAGAGCCCTCAGCTCCCCCAGGCAACAACCTCCTCGGCCCCATGCTGTGCGTGCCTTCCTTTTTATACTCATCACCCTGGGCTGTGAGCCCAGCAAGGAGGCGCTCCCGATTCCCCTCTATCCTCGAGGCCACGTCTAGTGAACCTTTATGGTTCAGCCTTCCCCCTCTCAGCAGTGCTGCTGCCCCCACTGCCCCGGCACAAAGGAACCGTGACTCTATGCATGAGCGTTGAGGTGACCTGGTCCGTAGGAGTCACACACACAACGTTAACGAGGCCCCTTCCTCGTGGGCAAACTCCCATGTAGAATGGATTTGGTGATTCTAGCAGCCCCTCCTAGAAGCCGTGGTGTGAAGGAGCCACTGACAGCACAGCACGGGCCGAGTGCACAGGCCCGGGGGCTGCTCCAGGCTGGCCCACACTAGCCCTGCAGGGTTCAGACCCTCTGCAGAGGCTGGTCCCCCAGAGCTCCACGGCAGCAGGATGCAATGGGTGAGGGAAGTGCTAGGGTTTGTCTCCCCGAGTGGCTTAAAGCAGGAGCCCGAGAAGGGCTGCTGGGATGAAGTGCATTGTCCACCTGCCTTGATATTACAGCTTAGAATAGCAGGAGGGGTCACCCACCCTGGGCCACCAGCGCTGGGGGAACCTGACTTGGAGTTCCCAGCAGATGCAGTGTGGGAAGCAGGCGAGGGCGCTGCTGTGAGAGGAGGACCTGAGGATACAGAAGGGACCCCTGCTCTGGCTCCTGTCCAGCTGCGAGATTCCCAGAGGCGTCAACTTGGCTGGTGTGGGTGGAGGGAGAAGGCAGGACCCCCCCAGCCAATGGAACACAGGGAGCCTTTGGCTCAAGTGAACCCTTCCGGGTTAGGGTTCAGAAGCAGGCACCTTGCTCCTCCCCAGGTTGGCATTTGGGGCCTTCACACCTGGGACCCATGGATGATTCTAACTCCGTTTCCTCCTGCTCCCATCGCTCCCTTATGGAACTCCAGTATCTCCTTCACACCCTGCCCACCACATTCAAACTCCAGGCAGCGCCAAGGCCCAGGCCCAAGGCCACCTGCTCTTGCTCCTCCCTCCTGCCCCTGGACCTCAGCGATGCCCCGTCACCTGCCCTGGTGCTCAGTGAGCTTCTGCTCTTGCCTGCAGTCGGGTAAAGCACAGGCTGTGCACTCCCAATTCAGGGAAGGCAGAGCCCTGCAGGAAGTAACCGCTCTCAACAGCTGGGGGTGATGGCCACTGCCCCGAATCACTAGGCCCTGACTCTCCAGTTCTCACAGTAGCTCAAGGGGAACTTGGCACCTGGCCTGCCACCATGGCTAAACTCATGTCCCAAGAAAGCAACCAGCATCCCAGCCTTCCACCAAAACCCCAAGGGCCAAGGAGGCCTGAGGACACCTCTCTAGCTTCCACCTGGCTTCCCCTCGGTTCCCCTTCCTTGCTGGCCACTCTGGTCTCTTCCCTGTCCACCCAGCGGGCAGAGCCTTCCCCAGGGCAGGCCTTACCTTGATGACGTGCAGGGGCTTGCTGGGGTTGTTTCTGTCCAGATAGTTGATGTACCCGGACAGGGAGACACTGAACAGGTGGTCCTTCTGCCATAGGCAGCCCAGCTGCTGGTCCAGAACCGTGGAGCCCATGGGAAATGTGCTGACCACGGAGTTCACGCTGACGTCCCAAATCTTGGAAGTTTTGTCCCCAGAAGCAGAAAGCAAATGGGTGCTGTCGGGACTCCAACTAATCTATTCAGAAAAAAGCAGTGTGTCATGTGCCAGAGGACTACAGACTGGAGAGAGACCCCAAAAAGCAGCTTGTCCACTGCGACTGTTTGAGTAGGACAGAAGGAGCCCAGAGAGAGGGTGGGACATGAGTGAGGCCAAGGACAACACCCGCCTCCAGGTCTCCCGTTCCAGCCACTACCTTCTCCCATCACCTTATTGCGACCTTAAAGCTTTTCTGGGCAGATATAAAACCGCCCCGACTTATAGCCCCTCATTTCAAGTTTTTGTCTAACTCCGGAGTGAGTGTGGATGGACTGACACGTGGACTCGGCCAAATTCCCACCACTAGGCCGGGAAACACGCTCATACTCACTGCGTAAATCCCACCGTCGTGGGCCTTGCTTCCGCCCAGCGCGCACACCTTCTCCCCAGTCTTCCCGTCATAGATGTATATCTTCCAAGAAATAAAAACATGTGGGTCATGTGTGTGTGAACACCCTCTGGAGTAAGCAGTTTCTCCATGGACTGTGGCTGTAGAAAACCGGGGCTCACAGACTAAGCTCCCAGTGTGGTTTAAAAGCAGACATGCATTTACTGGGCTCTGACGACGAGTCTGCAGATGTGGGGAGGGCGATGTCTAAGTTCTGCATGTCAGGACTAGCATTAGGCAGCCTGCGGCTCTGAGCAGTCACGGGAGCAGGCAGACAAGCCATTCCCCACCCCAAAACCCATCCCAGTTCTTACCTGGCCGTCAGCACTGGCTGTGGCAAATCTGTTCCCATCAGGAGAGAATCGCACACAGTTGACAAAGCGGCTGTGGTCCTGCAGGAAAACAATTACCTGCCTGATGAGGGGCCGCAGGCCTGACTCTAGGTTCAAGAATGCTCTCTATGAAACACAGCTTGCAGCTCCAGCTGTTCATCAGTGTGAACTGTTAGTCCACTGGAAAATTTCAGAGCTTAAAAAAACATCCTGGGCAGTCCCTTAGTGGAGGGGCAGGAGTCTGCTCCAGCCTGCCTGCCATGCTGACCGCTCTACCTGCTGGGAAAGCTGATTAGCCCGAGCGAAGGCAGACCACCTCCAGTTATGCCCCCCCCAGTGAGGTGCCCCCAGCAGCTGCCCTCTTCCCTCTGGGCTCTGAAAGAGCTCAAGCCCCAATCCTTAAGCTTCACGATGGCTGAGACCAGGAGGCCTCTTCCTGGAGGCACCAGCCCTGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGTGCCCGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCCCTTTGTTAGCCAGGATGGTCTCAGTATCCTGACCTCATGTTTCCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGTCACTGCGCCTGGCCAATAATTAACTTTTAAACAAAGTTAATGATTATGACCTTCATCAAGAACAAGAGCCTGAGCGACTAAAAGGAAATGACATGACTTCCAGGGGCGACTCTGTTACTCGAATAAGGAAATGAATGCATTCTTTCCGCAGTCAACAAGAGTTTGTATCAGAGACTGATCCTTAAATAAGCAGTTGTAAAGCTGCCAACACCTGCCCTGCCCTCTTGCTGCCCACCTGCAGGCGGCGCTAACCCGGCAAATGCACATCCAGTGCTAACAACTCTCTTGGCACAGGAAGGGCTCGCTGCTCAGCAGGTACGAACACTAACCTTCAGGAAAAGCAATTCAACCCCAAGGCGGATAAGCTGCCCCGCGCTCTAAGTAAATCACGGACTTAATTTTAAAGCATGAGCTACCTGTGTGGGGGACCTGCCTGT
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Task1_train_8458
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Assess the clinical impact of this variant on gene WDR1 (WD repeat domain 1), found on Chromosome 4. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Lazy leukocyte syndrome
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TTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAGGGCTGACACCTGGAGAACACTGTCGGGGATGGCTCATGGGAAACTGTTTTTCTGGGCAGTAGCGAAGCCTTACTCACCCGTGTACAATTTCTCACCATCCCACTTGGAGGCCCACTGGAGCATGGTCTCGACAAGAGCCCTCAGCTCCCCCAGGCAACAACCTCCTCGGCCCCATGCTGTGCGTGCCTTCCTTTTTATACTCATCACCCTGGGCTGTGAGCCCAGCAAGGAGGCGCTCCCGATTCCCCTCTATCCTCGAGGCCACGTCTAGTGAACCTTTATGGTTCAGCCTTCCCCCTCTCAGCAGTGCTGCTGCCCCCACTGCCCCGGCACAAAGGAACCGTGACTCTATGCATGAGCGTTGAGGTGACCTGGTCCGTAGGAGTCACACACACAACGTTAACGAGGCCCCTTCCTCGTGGGCAAACTCCCATGTAGAATGGATTTGGTGATTCTAGCAGCCCCTCCTAGAAGCCGTGGTGTGAAGGAGCCACTGACAGCACAGCACGGGCCGAGTGCACAGGCCCGGGGGCTGCTCCAGGCTGGCCCACACTAGCCCTGCAGGGTTCAGACCCTCTGCAGAGGCTGGTCCCCCAGAGCTCCACGGCAGCAGGATGCAATGGGTGAGGGAAGTGCTAGGGTTTGTCTCCCCGAGTGGCTTAAAGCAGGAGCCCGAGAAGGGCTGCTGGGATGAAGTGCATTGTCCACCTGCCTTGATATTACAGCTTAGAATAGCAGGAGGGGTCACCCACCCTGGGCCACCAGCGCTGGGGGAACCTGACTTGGAGTTCCCAGCAGATGCAGTGTGGGAAGCAGGCGAGGGCGCTGCTGTGAGAGGAGGACCTGAGGATACAGAAGGGACCCCTGCTCTGGCTCCTGTCCAGCTGCGAGATTCCCAGAGGCGTCAACTTGGCTGGTGTGGGTGGAGGGAGAAGGCAGGACCCCCCCAGCCAATGGAACACAGGGAGCCTTTGGCTCAAGTGAACCCTTCCGGGTTAGGGTTCAGAAGCAGGCACCTTGCTCCTCCCCAGGTTGGCATTTGGGGCCTTCACACCTGGGACCCATGGATGATTCTAACTCCGTTTCCTCCTGCTCCCATCGCTCCCTTATGGAACTCCAGTATCTCCTTCACACCCTGCCCACCACATTCAAACTCCAGGCAGCGCCAAGGCCCAGGCCCAAGGCCACCTGCTCTTGCTCCTCCCTCCTGCCCCTGGACCTCAGCGATGCCCCGTCACCTGCCCTGGTGCTCAGTGAGCTTCTGCTCTTGCCTGCAGTCGGGTAAAGCACAGGCTGTGCACTCCCAATTCAGGGAAGGCAGAGCCCTGCAGGAAGTAACCGCTCTCAACAGCTGGGGGTGATGGCCACTGCCCCGAATCACTAGGCCCTGACTCTCCAGTTCTCACAGTAGCTCAAGGGGAACTTGGCACCTGGCCTGCCACCATGGCTAAACTCATGTCCCAAGAAAGCAACCAGCATCCCAGCCTTCCACCAAAACCCCAAGGGCCAAGGAGGCCTGAGGACACCTCTCTAGCTTCCACCTGGCTTCCCCTCGGTTCCCCTTCCTTGCTGGCCACTCTGGTCTCTTCCCTGTCCACCCAGCGGGCAGAGCCTTCCCCAGGGCAGGCCTTACCTTGATGACGTGCAGGGGCTTGCTGGGGTTGTTTCTGTCCAGATAGTTGATGTACCCGGACAGGGAGACACTGAGCAGGTGGTCCTTCTGCCATAGGCAGCCCAGCTGCTGGTCCAGAACCGTGGAGCCCATGGGAAATGTGCTGACCACGGAGTTCACGCTGACGTCCCAAATCTTGGAAGTTTTGTCCCCAGAAGCAGAAAGCAAATGGGTGCTGTCGGGACTCCAACTAATCTATTCAGAAAAAAGCAGTGTGTCATGTGCCAGAGGACTACAGACTGGAGAGAGACCCCAAAAAGCAGCTTGTCCACTGCGACTGTTTGAGTAGGACAGAAGGAGCCCAGAGAGAGGGTGGGACATGAGTGAGGCCAAGGACAACACCCGCCTCCAGGTCTCCCGTTCCAGCCACTACCTTCTCCCATCACCTTATTGCGACCTTAAAGCTTTTCTGGGCAGATATAAAACCGCCCCGACTTATAGCCCCTCATTTCAAGTTTTTGTCTAACTCCGGAGTGAGTGTGGATGGACTGACACGTGGACTCGGCCAAATTCCCACCACTAGGCCGGGAAACACGCTCATACTCACTGCGTAAATCCCACCGTCGTGGGCCTTGCTTCCGCCCAGCGCGCACACCTTCTCCCCAGTCTTCCCGTCATAGATGTATATCTTCCAAGAAATAAAAACATGTGGGTCATGTGTGTGTGAACACCCTCTGGAGTAAGCAGTTTCTCCATGGACTGTGGCTGTAGAAAACCGGGGCTCACAGACTAAGCTCCCAGTGTGGTTTAAAAGCAGACATGCATTTACTGGGCTCTGACGACGAGTCTGCAGATGTGGGGAGGGCGATGTCTAAGTTCTGCATGTCAGGACTAGCATTAGGCAGCCTGCGGCTCTGAGCAGTCACGGGAGCAGGCAGACAAGCCATTCCCCACCCCAAAACCCATCCCAGTTCTTACCTGGCCGTCAGCACTGGCTGTGGCAAATCTGTTCCCATCAGGAGAGAATCGCACACAGTTGACAAAGCGGCTGTGGTCCTGCAGGAAAACAATTACCTGCCTGATGAGGGGCCGCAGGCCTGACTCTAGGTTCAAGAATGCTCTCTATGAAACACAGCTTGCAGCTCCAGCTGTTCATCAGTGTGAACTGTTAGTCCACTGGAAAATTTCAGAGCTTAAAAAAACATCCTGGGCAGTCCCTTAGTGGAGGGGCAGGAGTCTGCTCCAGCCTGCCTGCCATGCTGACCGCTCTACCTGCTGGGAAAGCTGATTAGCCCGAGCGAAGGCAGACCACCTCCAGTTATGCCCCCCCCAGTGAGGTGCCCCCAGCAGCTGCCCTCTTCCCTCTGGGCTCTGAAAGAGCTCAAGCCCCAATCCTTAAGCTTCACGATGGCTGAGACCAGGAGGCCTCTTCCTGGAGGCACCAGCCCTGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGTGCCCGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCCCTTTGTTAGCCAGGATGGTCTCAGTATCCTGACCTCATGTTTCCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGTCACTGCGCCTGGCCAATAATTAACTTTTAAACAAAGTTAATGATTATGACCTTCATCAAGAACAAGAGCCTGAGCGACTAAAAGGAAATGACATGACTTCCAGGGGCGACTCTGTTACTCGAATAAGGAAATGAATGCATTCTTTCCGCAGTCAACAAGAGTTTGTATCAGAGACTGATCCTTAAATAAGCAGTTGTAAAGCTGCCAACACCTGCCCTGCCCTCTTGCTGCCCACCTGCAGGCGGCGCTAACCCGGCAAATGCACATCCAGTGCTAACAACTCTCTTGGCACAGGAAGGGCTCGCTGCTCAGCAGGTACGAACACTAACCTTCAGGAAAAGCAATTCAACCCCAAGGCGGATAAGCTGCCCCGCGCTCTAAGTAAATCACGGACTTAATTTTAAAGCATGAGCTACCTGTGTGGGGGACCTGCCTGTGTTTGATTGTGTAATGTTTTC
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TTTTAGAGCTCCCAGGTGGTTCTAACACGCAGCCTGGGCTGATACCTGCTGCTCCATCCCACTGCAGCCCAGATCAGCACCGAACATCAGCATCTGCGTGACTCACACAGGTGTGGCATTTGAGAGTTGGGACATGGGGGTTTTGACAACTGGCCCTTGGGGTTTTGGTGGAAGGGTGGGATGCTGGTTGCTTTTTTGGGACATAAGTTTAGCCACGGTGGCAGGCCGGGTGCACTGGCCCCAGACAGTTGGCAGCAGTGGTATTAGGAAGAGCACTCTCAGGGCAGCCCTGCCAACAGAAACGGGACGGCAGACCTGAGGGCTGACACCTGGAGAACACTGTCGGGGATGGCTCATGGGAAACTGTTTTTCTGGGCAGTAGCGAAGCCTTACTCACCCGTGTACAATTTCTCACCATCCCACTTGGAGGCCCACTGGAGCATGGTCTCGACAAGAGCCCTCAGCTCCCCCAGGCAACAACCTCCTCGGCCCCATGCTGTGCGTGCCTTCCTTTTTATACTCATCACCCTGGGCTGTGAGCCCAGCAAGGAGGCGCTCCCGATTCCCCTCTATCCTCGAGGCCACGTCTAGTGAACCTTTATGGTTCAGCCTTCCCCCTCTCAGCAGTGCTGCTGCCCCCACTGCCCCGGCACAAAGGAACCGTGACTCTATGCATGAGCGTTGAGGTGACCTGGTCCGTAGGAGTCACACACACAACGTTAACGAGGCCCCTTCCTCGTGGGCAAACTCCCATGTAGAATGGATTTGGTGATTCTAGCAGCCCCTCCTAGAAGCCGTGGTGTGAAGGAGCCACTGACAGCACAGCACGGGCCGAGTGCACAGGCCCGGGGGCTGCTCCAGGCTGGCCCACACTAGCCCTGCAGGGTTCAGACCCTCTGCAGAGGCTGGTCCCCCAGAGCTCCACGGCAGCAGGATGCAATGGGTGAGGGAAGTGCTAGGGTTTGTCTCCCCGAGTGGCTTAAAGCAGGAGCCCGAGAAGGGCTGCTGGGATGAAGTGCATTGTCCACCTGCCTTGATATTACAGCTTAGAATAGCAGGAGGGGTCACCCACCCTGGGCCACCAGCGCTGGGGGAACCTGACTTGGAGTTCCCAGCAGATGCAGTGTGGGAAGCAGGCGAGGGCGCTGCTGTGAGAGGAGGACCTGAGGATACAGAAGGGACCCCTGCTCTGGCTCCTGTCCAGCTGCGAGATTCCCAGAGGCGTCAACTTGGCTGGTGTGGGTGGAGGGAGAAGGCAGGACCCCCCCAGCCAATGGAACACAGGGAGCCTTTGGCTCAAGTGAACCCTTCCGGGTTAGGGTTCAGAAGCAGGCACCTTGCTCCTCCCCAGGTTGGCATTTGGGGCCTTCACACCTGGGACCCATGGATGATTCTAACTCCGTTTCCTCCTGCTCCCATCGCTCCCTTATGGAACTCCAGTATCTCCTTCACACCCTGCCCACCACATTCAAACTCCAGGCAGCGCCAAGGCCCAGGCCCAAGGCCACCTGCTCTTGCTCCTCCCTCCTGCCCCTGGACCTCAGCGATGCCCCGTCACCTGCCCTGGTGCTCAGTGAGCTTCTGCTCTTGCCTGCAGTCGGGTAAAGCACAGGCTGTGCACTCCCAATTCAGGGAAGGCAGAGCCCTGCAGGAAGTAACCGCTCTCAACAGCTGGGGGTGATGGCCACTGCCCCGAATCACTAGGCCCTGACTCTCCAGTTCTCACAGTAGCTCAAGGGGAACTTGGCACCTGGCCTGCCACCATGGCTAAACTCATGTCCCAAGAAAGCAACCAGCATCCCAGCCTTCCACCAAAACCCCAAGGGCCAAGGAGGCCTGAGGACACCTCTCTAGCTTCCACCTGGCTTCCCCTCGGTTCCCCTTCCTTGCTGGCCACTCTGGTCTCTTCCCTGTCCACCCAGCGGGCAGAGCCTTCCCCAGGGCAGGCCTTACCTTGATGACGTGCAGGGGCTTGCTGGGGTTGTTTCTGTCCAGATAGTTGATGTACCCGGACAGGGAGACACTGAGCAGGTGGTCCTTCTGCCATACGCAGCCCAGCTGCTGGTCCAGAACCGTGGAGCCCATGGGAAATGTGCTGACCACGGAGTTCACGCTGACGTCCCAAATCTTGGAAGTTTTGTCCCCAGAAGCAGAAAGCAAATGGGTGCTGTCGGGACTCCAACTAATCTATTCAGAAAAAAGCAGTGTGTCATGTGCCAGAGGACTACAGACTGGAGAGAGACCCCAAAAAGCAGCTTGTCCACTGCGACTGTTTGAGTAGGACAGAAGGAGCCCAGAGAGAGGGTGGGACATGAGTGAGGCCAAGGACAACACCCGCCTCCAGGTCTCCCGTTCCAGCCACTACCTTCTCCCATCACCTTATTGCGACCTTAAAGCTTTTCTGGGCAGATATAAAACCGCCCCGACTTATAGCCCCTCATTTCAAGTTTTTGTCTAACTCCGGAGTGAGTGTGGATGGACTGACACGTGGACTCGGCCAAATTCCCACCACTAGGCCGGGAAACACGCTCATACTCACTGCGTAAATCCCACCGTCGTGGGCCTTGCTTCCGCCCAGCGCGCACACCTTCTCCCCAGTCTTCCCGTCATAGATGTATATCTTCCAAGAAATAAAAACATGTGGGTCATGTGTGTGTGAACACCCTCTGGAGTAAGCAGTTTCTCCATGGACTGTGGCTGTAGAAAACCGGGGCTCACAGACTAAGCTCCCAGTGTGGTTTAAAAGCAGACATGCATTTACTGGGCTCTGACGACGAGTCTGCAGATGTGGGGAGGGCGATGTCTAAGTTCTGCATGTCAGGACTAGCATTAGGCAGCCTGCGGCTCTGAGCAGTCACGGGAGCAGGCAGACAAGCCATTCCCCACCCCAAAACCCATCCCAGTTCTTACCTGGCCGTCAGCACTGGCTGTGGCAAATCTGTTCCCATCAGGAGAGAATCGCACACAGTTGACAAAGCGGCTGTGGTCCTGCAGGAAAACAATTACCTGCCTGATGAGGGGCCGCAGGCCTGACTCTAGGTTCAAGAATGCTCTCTATGAAACACAGCTTGCAGCTCCAGCTGTTCATCAGTGTGAACTGTTAGTCCACTGGAAAATTTCAGAGCTTAAAAAAACATCCTGGGCAGTCCCTTAGTGGAGGGGCAGGAGTCTGCTCCAGCCTGCCTGCCATGCTGACCGCTCTACCTGCTGGGAAAGCTGATTAGCCCGAGCGAAGGCAGACCACCTCCAGTTATGCCCCCCCCAGTGAGGTGCCCCCAGCAGCTGCCCTCTTCCCTCTGGGCTCTGAAAGAGCTCAAGCCCCAATCCTTAAGCTTCACGATGGCTGAGACCAGGAGGCCTCTTCCTGGAGGCACCAGCCCTGTCTGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCACTACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACGACAGGTGCCCGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGATGGGGTTTCCCTTTGTTAGCCAGGATGGTCTCAGTATCCTGACCTCATGTTTCCCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGAGTAAGTCACTGCGCCTGGCCAATAATTAACTTTTAAACAAAGTTAATGATTATGACCTTCATCAAGAACAAGAGCCTGAGCGACTAAAAGGAAATGACATGACTTCCAGGGGCGACTCTGTTACTCGAATAAGGAAATGAATGCATTCTTTCCGCAGTCAACAAGAGTTTGTATCAGAGACTGATCCTTAAATAAGCAGTTGTAAAGCTGCCAACACCTGCCCTGCCCTCTTGCTGCCCACCTGCAGGCGGCGCTAACCCGGCAAATGCACATCCAGTGCTAACAACTCTCTTGGCACAGGAAGGGCTCGCTGCTCAGCAGGTACGAACACTAACCTTCAGGAAAAGCAATTCAACCCCAAGGCGGATAAGCTGCCCCGCGCTCTAAGTAAATCACGGACTTAATTTTAAAGCATGAGCTACCTGTGTGGGGGACCTGCCTGTGTTTGATTGTGTAATGTTTTC
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Task1_train_8459
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A variant found in Chromosome 4 affects WDR1 (WD repeat domain 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Lazy leukocyte syndrome
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CCTGTTTCCGGGAGGGCCCAGAGGCATGACTCACCCGAGGGGGGCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGACCCTGCTGAGCACCCTGTGCTGGGTTTAATGCACAGCTGCAGAGTGGAAATGATCCCTCCCAGGGCAGGCCAAGGAGCCCCCACCCACAGCCGGCTTCTAGCTACCACAGAAGTCTCTGAGCTGCTTCCTCCTGCCCTGGGCTGAGATGGGGTGTGCAGCTGACTCAGCATTACTCACCCTGCTCTGCAGTGCCTCCACCCTAGCGAAGAAACATGGCCTGAAGCCACAGCCTTCAATACAGCTCCCAAAATAGCCAGGTCTCCACTACCTACCCATTAGGTGGTAGCCACAAGAGCAGAGTCTGAGAGCTGCCGCGTGTTCAGCTGCATACAGGGAGCCTCCCTATGCTTTCACCTGCCCAGCCAGGCCCAGCTCAGCCTGCGGTTCCGTGACAAAATGAAGCCTGTTTCACTACGAACGGGGCATCCTTGGAAAGCCCCCTCCTGTACCCTAAGCCAAGAACAGTCTCTGGAAATTCTGCTCACTTTGTGGGTCCCGTCCTCGCCCTTTCCAGCTGCACTGCGCAGGCTATTTATGATTCATGGCATGATGTCACTAAAATGGACAGTGCTCCTCACTGAGCCACTTTAAGGACATGATCTCATTAATCCTCCATGAGGCAGACAGTGAAACCACTGACGGTTCCAAGAGGAGTCCCGAGAACTTGGTCCAATCTGCAAACACAACCTCCTCCAAGGACATCAACAGTCCCTAAAATGTGCATTTCCGGGTCCATTGTTCTTGTCCATCCTCAGCGCAAGCACAAGCGGGATGGGGAAAGCCAGGGCAGAGCCGTGGGGTTGTGCTGAGACTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTGTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGAAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCCGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGAT
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CCTGTTTCCGGGAGGGCCCAGAGGCATGACTCACCCGAGGGGGGCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGACCCTGCTGAGCACCCTGTGCTGGGTTTAATGCACAGCTGCAGAGTGGAAATGATCCCTCCCAGGGCAGGCCAAGGAGCCCCCACCCACAGCCGGCTTCTAGCTACCACAGAAGTCTCTGAGCTGCTTCCTCCTGCCCTGGGCTGAGATGGGGTGTGCAGCTGACTCAGCATTACTCACCCTGCTCTGCAGTGCCTCCACCCTAGCGAAGAAACATGGCCTGAAGCCACAGCCTTCAATACAGCTCCCAAAATAGCCAGGTCTCCACTACCTACCCATTAGGTGGTAGCCACAAGAGCAGAGTCTGAGAGCTGCCGCGTGTTCAGCTGCATACAGGGAGCCTCCCTATGCTTTCACCTGCCCAGCCAGGCCCAGCTCAGCCTGCGGTTCCGTGACAAAATGAAGCCTGTTTCACTACGAACGGGGCATCCTTGGAAAGCCCCCTCCTGTACCCTAAGCCAAGAACAGTCTCTGGAAATTCTGCTCACTTTGTGGGTCCCGTCCTCGCCCTTTCCAGCTGCACTGCGCAGGCTATTTATGATTCATGGCATGATGTCACTAAAATGGACAGTGCTCCTCACTGAGCCACTTTAAGGACATGATCTCATTAATCCTCCATGAGGCAGACAGTGAAACCACTGACGGTTCCAAGAGGAGTCCCGAGAACTTGGTCCAATCTGCAAACACAACCTCCTCCAAGGACATCAACAGTCCCTAAAATGTGCATTTCCGGGTCCATTGTTCTTGTCCATCCTCAGCGCAAGCACAAGCGGGATGGGGAAAGCCAGGGCAGAGCCGTGGGGTTGTGCTGAGACTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTCTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGAAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCCGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGAT
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Task1_train_8460
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A mutation in WDR1 (WD repeat domain 1), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Intellectual developmental disorder 61
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GCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGACCCTGCTGAGCACCCTGTGCTGGGTTTAATGCACAGCTGCAGAGTGGAAATGATCCCTCCCAGGGCAGGCCAAGGAGCCCCCACCCACAGCCGGCTTCTAGCTACCACAGAAGTCTCTGAGCTGCTTCCTCCTGCCCTGGGCTGAGATGGGGTGTGCAGCTGACTCAGCATTACTCACCCTGCTCTGCAGTGCCTCCACCCTAGCGAAGAAACATGGCCTGAAGCCACAGCCTTCAATACAGCTCCCAAAATAGCCAGGTCTCCACTACCTACCCATTAGGTGGTAGCCACAAGAGCAGAGTCTGAGAGCTGCCGCGTGTTCAGCTGCATACAGGGAGCCTCCCTATGCTTTCACCTGCCCAGCCAGGCCCAGCTCAGCCTGCGGTTCCGTGACAAAATGAAGCCTGTTTCACTACGAACGGGGCATCCTTGGAAAGCCCCCTCCTGTACCCTAAGCCAAGAACAGTCTCTGGAAATTCTGCTCACTTTGTGGGTCCCGTCCTCGCCCTTTCCAGCTGCACTGCGCAGGCTATTTATGATTCATGGCATGATGTCACTAAAATGGACAGTGCTCCTCACTGAGCCACTTTAAGGACATGATCTCATTAATCCTCCATGAGGCAGACAGTGAAACCACTGACGGTTCCAAGAGGAGTCCCGAGAACTTGGTCCAATCTGCAAACACAACCTCCTCCAAGGACATCAACAGTCCCTAAAATGTGCATTTCCGGGTCCATTGTTCTTGTCCATCCTCAGCGCAAGCACAAGCGGGATGGGGAAAGCCAGGGCAGAGCCGTGGGGTTGTGCTGAGACTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTGTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGAAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCCGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGATTCTCTTCTCACCGGAGCGTGGGCAGCCAATTGTAACAGAAGCA
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GCACAGCCACCTAGCTCTGTGCCAGGCCACAGCCCTTTCTATTTCTCCCAGGTCCTCAGGCAGGGCCCATGGTTGTGGGTTCCACAAAAGACTTCAAGACACATGGTGGTACCCACCCTGGAGCTGGGCTAGCTGGGCAGACATTTGTACCCAACACTCCTGGGCCAGGGCAGTGGGGTGAAGTCCTTTCTGAAGTTAGAAAGGACAACTAAAGAGAAAGAATGTTCTGGACAAGTCCCCAAGCAAGCACACAGGGGCACAGCAGCCTGGTGAAGAAGACAGGCTCCAGCCCACCCCTGGAACAAACTGGTGCCCCTGACCCTGCTGAGCACCCTGTGCTGGGTTTAATGCACAGCTGCAGAGTGGAAATGATCCCTCCCAGGGCAGGCCAAGGAGCCCCCACCCACAGCCGGCTTCTAGCTACCACAGAAGTCTCTGAGCTGCTTCCTCCTGCCCTGGGCTGAGATGGGGTGTGCAGCTGACTCAGCATTACTCACCCTGCTCTGCAGTGCCTCCACCCTAGCGAAGAAACATGGCCTGAAGCCACAGCCTTCAATACAGCTCCCAAAATAGCCAGGTCTCCACTACCTACCCATTAGGTGGTAGCCACAAGAGCAGAGTCTGAGAGCTGCCGCGTGTTCAGCTGCATACAGGGAGCCTCCCTATGCTTTCACCTGCCCAGCCAGGCCCAGCTCAGCCTGCGGTTCCGTGACAAAATGAAGCCTGTTTCACTACGAACGGGGCATCCTTGGAAAGCCCCCTCCTGTACCCTAAGCCAAGAACAGTCTCTGGAAATTCTGCTCACTTTGTGGGTCCCGTCCTCGCCCTTTCCAGCTGCACTGCGCAGGCTATTTATGATTCATGGCATGATGTCACTAAAATGGACAGTGCTCCTCACTGAGCCACTTTAAGGACATGATCTCATTAATCCTCCATGAGGCAGACAGTGAAACCACTGACGGTTCCAAGAGGAGTCCCGAGAACTTGGTCCAATCTGCAAACACAACCTCCTCCAAGGACATCAACAGTCCCTAAAATGTGCATTTCCGGGTCCATTGTTCTTGTCCATCCTCAGCGCAAGCACAAGCGGGATGGGGAAAGCCAGGGCAGAGCCGTGGGGTTGTGCTGAGACTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTGTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGCAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCCGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGATTCTCTTCTCACCGGAGCGTGGGCAGCCAATTGTAACAGAAGCA
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Task1_train_8461
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The gene WDR1 (WD repeat domain 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Lazy leukocyte syndrome
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CTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTGTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGAAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCCGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGATTCTCTTCTCACCGGAGCGTGGGCAGCCAATTGTAACAGAAGCAACACCGGGGGCCACGTACCCCCAATCCCCCACCACGATCCTGTCACCAAGTACCAAGTCCCAATCCCGACACACCCTCTCCAAATGAGCACTGTGTTGGCGTGAAGAAATGGGAGCATTCTAGACTAACTCTCAAGGCTTCACGCTTTAAAACCTCAGCCCCATCTGCTAAGCAGGTAAAGGCGCCTTTTTAAGAGGATTGTCAGGACACGTTAACAACCACCACAGCTCTACAGCTGCTTCCAGTGAAAAGAGCTTTTGTTTTCTTGCTGCAACTGAGCAGCTCAAAGGAGGGCAGCAGCTAAGAGCCAGGCCTTGGGAGCAGGGGCCCTGGGTTCAAATCCAGCCTCTGCCACACACAGGCTTTGTGGGGCTCAGCAAGCAACATGGCTTGTGTCCTTATCCAGAAGAGTGGAAATAACAGAGCCACTCACAGGGCTGCTGTAGGTTCCACGAGTTAACACGTGCGAAGTCTCCAACTAGTCTTCAGTGCACAGCAAGAGCTCGTTACGAGTCAGGTGGAACGAGTCCACGAATTAACGGAGGCTCTACACAGGCCACGAAGATGCCTTGCTTGTGGGCAGACACAGCCCGAGCCTAGACTGAGCCATCCTCTGAGATGAGGGAGATGCACGTAAGGACTGTCCTGCTCTCAGTCCAGCTGCGGGGACAGGCAAGAGGTGATGCCAAATCCAGTGAACAGCACTAACTAAGGGGAGTCCCAGAAGGGCCCAGTTCTCTGCACAAGGTCCAGGAAGACCACCTGCTGTGCTACCTGAGCTGAGTTCCAAAGGTGACCTGGAGATCTGCTTAGTTAAGTCCTTTCACTGATAAAACAGGCCGGGGGGGAAGAAGGGGTCAGAAGAGGAAGTCACCACAGGCTGGCAGCATCGGAGGGGAGCACTGTGTGTGCAGGAAGGACATGCAGATACACTCAGGAGCATACATATCCACACATGCACACATGTCCACACATGCACATGTGACCACGTGGTCTGCTATGCTCAGGCCCATCCAGGGCCCATGCTGCCCCATGGAGAAGACATTGCTCTCAGGACAAGGCAGAGGGCGTCCCACCCTGAAAGAGGCGCCTTCCTCCAGGAAGCCTGCCCTGGGCCTACGTAAGGCCAAA
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CTGGCTGCTGGGCTCCTCCCCTCACTCCTACAAAGCTGGGGCAGGAAAATGGGCATCACAGATGCTCCAGACCTGCCAGGTGGCTCTCCTACTTCAAATTCATAGTCAAAACCCTCAGATGCTGCTGGCCCCGGCACACCCCCGTCTTGCAGAAGGGAGAAGTGAGGAGGCTTGGCAAGGCCTGGGTGCCTAAGGCGGGGCGCATGCACGGCATGGGCCTCTGAGATGCTGCCAGCTACACCCAAAGCCTGCCGCATTTCTGGCACATTTCTTCCACAAAGTATCTTTCAGTCTTCTAACCGTTTGTCACTTTGCAGGCGCATCACTGCCCTCACTGTCTCTAGGAGAGACCAATCTGGATGTCCCGCAAGCTCCCTTCCTCTGCCACTTTGGTGGCTCAGCTAACAGCAGGCCCTGCAGGCTCCCCTCTCTAATGAGCACCTCCAGCCCCAGATGCTTGCCTGGTTACACGGTCAGGGACATTCCTGCCCCAATCCCCGACAGGCACACATCATCCTAGGGCAGGGCCCTTCCTTGTGGGAACCATCCATGCCCAGCTGAGGGCCTGGGGAGGACGAGTGCTGGGTGGGGGAGCCCTCCCTCTCTCTGCACACCCCTGGGAGCCCACTTCTGTGTATCATGGCATACGTGGCATGTGCTGTGGTCTCTGCCATCAGCATCTAAACAGGCTCAGCCTCTGCTAGCCTCATGTACAAACCACAAATTTCACCCAAAAAGTAAGTTCACTTACGCCAATTGTGAACTTGAACTTGAATGGGGGTCCCTCAAAGAATGCCGCGCAGTTATCATCGCTTCCCGTGGCCAGCCGGTATGGCCGGCTCTGCTTGATGTCCACGCTGTTGATGACTTTGTTGTGTCCTGTAATCTCGCCCACAGAAGAGCCACTATCCCAGAGGAAGACTGCTCCAAACCTTGACCCAATGACACAGGTGGAAGACAAAAAAAAAAAAAAAAAATCAATCCCAGAAGGCTGGTAAGCAATCTGATAGCTGAGCTGCCAGTGCACAGAGGATGGAGTGACTGTCAGCAGGCAGCTCAGAACGCCACAGGGACAAATGAGGGAAGCACTGGGGTTCTGGCTCCACAAGGCATTTGTCCAAAGGACCCAAGAACAAGATGGGGCAAGCCGGCGCCTTCGGGAAGGGGATGCATGTGTGTGTCTGTGGGGCCCCACGCCACAGGGCCCAGGGCTATCTTTACAGCTTCACCATTCTCCTTACAGTTCTATTGGGAGGGAACAGTTACCATCCCCTACAGGAATGAGATGCCCTGCTCTTGGCTGACATTCAACAAAAACACTGTTTTAGTTACTATTTGCTACTGAAAAAAGAAGGAATTAAGACCAACAGGAATGACTTGAGAAGCCATGGAAAAACACCTACTAGAACATGTACGAGAAAGTGCCATTCAGTGAAGAACAGACATGCCACTGTCAAGTTCAAGGGGTTATGGCCAGCCATGGTGCTGCAGGGGGGACTCTGACTCTCTTGAATTAAAAAAACCTGGGTTTCGGCACCAACCTCACCAGTCACTAGGCCCCTGAGGTCAGTAGCCACCCAGTGCCACCCAGCCAGCATCCACTGCCCCTCCCTCCTCCATCAGAGACCCTTGGGGGAGGTGCCCAGCTGGAAGAAACAGTTCAGCCTCCCTGGCAGCTTCATGGGGCAGCTGCTGTGAGGGACCCCGAATAGAAGTGCTGTTGCTCTTTCACTCTGTCCCCTTCTTGCTGCCTGCAGGTGGGCATGAGAGCTGGGGTTCTAGCAGGCAAGGCACTCAGGACGTCAGAGGAGATACATGAGTGCTGGGCCCTGGTGACAAACCCAGTGTGATGTGGAGTTCTACCTTACCTGGGGCTGCAGCCAGCCCTCACGGGGCCCGGCACCTACTGGGAGCTCAACCCTCACGAGTGCAAGTTAGTACAGACATCAGCGCATCCCCCTCCCAGGGTCATAGCACATGGACGCATGAGCCACAGCAACAGGGCAGGGAGGGGCTGAGAGGAGTGACTCACTTCTCCCTTCCTTCCCTGACCACGGCGATCCTCTTACTGTCTTCAGTCCAAGCAATGTCTTTGATCTTCCCAGCGAAAGGCTGGTACTCATACTTCAACAGGTGCTCCTTCTGCGTGGTATCCCAGATCCTCAGCTTCCCAGACACATCTGTGGGGCACAGCGGGCGGGGGAGGGGGGGAGGCGGTGGTGGGGTAAAGGGCAGGGGGAGAGCCACAGGTCACTGCCGGGCCAGGGCCACGTGGCCATAGGCCCACTCAGAACCATGTCTGGTTGCTTAGGCTTTCTAGAGGAAAAGGCCTAGTGAAGAGAACGTGTCTTAGGGCAACAATATTCAGCCACCCTTAAGTCAGAGCCCGTGGCATCCAGAGGCCTGCCATTTGGGCCTCTGCATTTTGCCAGAAATCTTGCCAGAAATCATCTGGATAACAAACCCTGCTTAGGCATCAGAAAAAGCCCAGGGACACATCATGGTAAACTCCAATATGCCAGGAAGTGGTTTAGTTTTCTCACTGTGTTTCTTTTCTTGTAGGGGCATCAGAATGACGTGTGGGCCTCAGGCCACCTTTGTGGAATGGGACGGCACTGGCTACACCTGCCTCTCCTTTGCAGTTGCTGCAGTGACTTCTGGAAACGAGGTGCACAGCTGTGAGGGTGCAGCGTGCTGCCCACTGCGATGCCTCAGCGTGGCCTGGCGGCCTCCACCTGGGCCTGCAGACCGGGCTTCCTGTGCAGCTTCCCAACAGCGTGCTGCTGCCTGGCAAATCAGCAGCCTCACTCACACACCGAGCAGTTCCACGACGCACAGGAATCCAAGCGTAAGATTCTTCTGTGAGAGTAGCAGGTGGGTGTTGCGGGGGAAGGAGAATTACACACAGAACTCGATGCTGATTCTCTTCTCACCGGAGCGTGGGCAGCCAATTGTAACAGAAGCAACACCGGGGGCCACGTACCCCCAATCCCCCACCACGATCCTGTCACCAAGTACCAAGTCCCAATCCCGACACACCCTCTCCAAATGAGCACTGTGTTGGCGTGAAGAAATGGGAGCATTCTAGACTAACTCTCAAGGCTTCACGCTTTAAAACCTCAGCCCCATCTGCTAAGCAGGTAAAGGCGCCTTTTTAAGAGGATTGTCAGGACACGTTAACAACCACCACAGCTCTACAGCTGCTTCCAGTGAAAAGAGCTTTTGTTTTCTTGCTGCAACTGAGCAGCTCAAAGGAGGGCAGCAGCTAAGAGCCAGGCCTTGGGAGCAGGGGCCCTGGGTTCAAATCCAGCCTCTGCCACACACAGGCTTTGTGGGGCTCAGCAAGCAACATGGCTTGTGTCCTTATCCAGAAGAGTGGAAATAACAGAGCCACTCACAGGGCTGCTGTAGGTTCCACGAGTTAACACGTGCGAAGTCTCCAACTAGTCTTCAGTGCACAGCAAGAGCTCGTTACGAGTCAGGTGGAACGAGTCCACGAATTAACGGAGGCTCTACACAGGCCACGAAGATGCCTTGCTTGTGGGCAGACACAGCCCGAGCCTAGACTGAGCCATCCTCTGAGATGAGGGAGATGCACGTAAGGACTGTCCTGCTCTCAGTCCAGCTGCGGGGACAGGCAAGAGGTGATGCCAAATCCAGTGAACAGCACTAACTAAGGGGAGTCCCAGAAGGGCCCAGTTCTCTGCACAAGGTCCAGGAAGACCACCTGCTGTGCTACCTGAGCTGAGTTCCAAAGGTGACCTGGAGATCTGCTTAGTTAAGTCCTTTCACTGATAAAACAGGCCGGGGGGGAAGAAGGGGTCAGAAGAGGAAGTCACCACAGGCTGGCAGCATCGGAGGGGAGCACTGTGTGTGCAGGAAGGACATGCAGATACACTCAGGAGCATACATATCCACACATGCACACATGTCCACACATGCACATGTGACCACGTGGTCTGCTATGCTCAGGCCCATCCAGGGCCCATGCTGCCCCATGGAGAAGACATTGCTCTCAGGACAAGGCAGAGGGCGTCCCACCCTGAAAGAGGCGCCTTCCTCCAGGAAGCCTGCCCTGGGCCTACGTAAGGCCAAA
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Task1_train_8462
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A mutation found in WDR1 (WD repeat domain 1) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Lazy leukocyte syndrome
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GACTCAGTGCCTGATCTACATCCAGCCCAGGGAGGGCTATATTAGTAGCATCTCGTGCTGACCTGGCATTGCAGAAACTTAAAAATAATTGAGAAGGGAAACAGGGTAACCCCTGAGAAGAAAATGGCAAACCACGGGGAAGGGGTAAGAATACAGAGCTCAGAAACAGGCAGAATGGGTTTCACAAGCTGGGAAATGCTTTCTGCAAAGGGGTGCCTGTCCCTGAATGACCACTCCATTAGAAGCAGCTCCAGTTACTGGCCTGCCTCACCTTGCTAAGTCTGACTCCTCTTTAGAGTAACGGACCCATGTGGGGTGGAAAGAGATGCTACAGTTTAAGAAGCTATCACAGGGCCAGATGCACAGCAGGTACTTTATGTGAGGCCCCCTCCCTGGAAGTCAATGTGGACTGCAACGACAGGGAAGGCCTGGTTAGGGGCAAAACGAAATATCCTACTGCTCTGTATCCGAGGACGTGTTAGTGGATTTTATTTGCCAAACTACTAAATATCTCTTTAGGGTTGTCTCAATTTTTATTTTCTCAAAAGCCTCAGGACCTGCCTTCGGAGACTTCCAGATCATTACCATTAGATCCCTGGTGATTTTCTCCAGTTCTAAGCAAGGCCCTTCGGCTTTCTAGGAATCTGTGTGACTAGCAAGTTGTTAGCACCTTCAAAGCACATTCACACCCGCCCACCCCCTCATTTGAGGGGCCCAGCAATCCAGGGCAGGTAGAGCTCTGTCTTCCAGCAGAGGAACAGCAGCGACTGCCTGGGTTAACGAGACAGATGCGGGCAGAGCCAGCAGCTCTTCGGACCAAGAGGCTTCTCCTTTCACAGAGAAGGAAACTGAGACCCAGAGACCCCTTCATTCCCTCAGCCAGTTGCTGGCCTCCTGGAGGGCAAGTGTGTCCGATCAACAGTCCCAACCTACCAAGGGAAATCAGGCTGACTTTAAGTTGACAACCCTTGTATGCCTATGGCATCAATCAAAACATACATCTTTGTGCCAGCCGCCCCCACTAAGCACAGCACAGGAGAAATCACCCAATGGCCGGGCCGGCACCTCCAACTCCCACCCCACCAATTCCATCACTCAGGCTGAGGAAGGGAAAAGCAAAATTTAAGCGTGTAACCCAGGAAGGGAGGGAGACTGACAGACTGGGTCACCCCAACAATTACAGAGGAATAACATGAATTTGCAAGGATTTCCCAAGGAGCTGGCTCTAGAAGCCTTTTCAGCCTGGGTACCGGAGGCTTGCAGAGAATGATTCATGGGAAAACACTGCTTCCTGTTTTTGCTTTGGGGCTTAGATCCATGGTGGCAGATCTGGCTGGCCCAGAGGCCCGGGTGTTTTTCCGGGCTCTGCCATACTGGAAGACCAGGGTATTAACAGCGAGTTAGCTGAGTGCCATTCCATTCAGCAAGGGCTCAAAGTGCACCAGGCACCGCTGGGCTTGAGGGACGCCAGCAGCTCATTCATTCCATCTGCCCAGCCAGCAGGCGAAGCGAGAGTGGTCATCATCTCATCATCTGTTTTACAGACGAGAAAACTGGGGCTCAGAGATGCCCAAATCGCCAATCTTCTCAAGGTCACGCAGCGGCCGACCGGGTCAGTCTGATCCCTCAAATCCGGAGCCCTTGCTTTTAAGGAATGAACTAATCTAATCTCCCATCCACGTACTAACCAGGCCTGACCGTGCTTAGCTTCCAAGATCAGAGGCGATCCGGCGCTTTCAGGGTGCTATGACCGTAGACAGAAACGAACTAAGACTCAGTTTCCTCATCAAGAAGGAGCAGACAAGGACCTGGGTGAATCTGAGGCCGGCTTCCGGGGCTCCGAGGTGTGGCTCCCGGTAGAGGGGGCGTGGCGCCCTCACCCTCCCCGGGCCAATGGGCAGGAGGTGAGAAGTGGAGAGGAAGGCGAATTATCCCATCCCAAGGTGGCTCCGGAGCAGAACCGCGCCCGGGGTAGGGGGTACTCACGTCGATGTTCCTTAGGATGACGCACTTTCCATTGGTGTACAGAAAATTGTTGCCCTTAGGGTCGCCGCCGATGATCTTGGAGACGCCCCTCTCCACCTGCGGGAGGCTGGCGAACACCTTCTCTGCGGAGACACAAATGCGGCGGGGCATGTCAGGGCAGGGCGGGGACGGCGGGGACAGAAGGGAGAAGGAGCCCCGGACCGGTCTCGGCCGGTCACCTGTTGACTGCGCCGGGAGGGCGGCCTCCACTTTCCACGAGCGCCAGGAACCGCGCGACTTCCTGGTCCGCGCCCCGGGCCAGGCCCTTGGGGGCAGCGGGGCTCCTCCGGCTCGGCCCACGGCGCCAACTTGGGGGCGCACCCCCCGTCGGGGGTCCCGCCCTGCACCACCGAGGGCGGCCCCGCCACGCCTCCGGCCGGCGCCCGCACCCCTCCCCCGCGCCGAGGACTCCCCCGCCACCCGCACGGCGCCTAGGGGCCGGGGACCGGGGCCGGGGCAGCGCGGCGGCCGCTCGGGGGCCCCGCGCCGCGGCACTTACTGATCTCGTACGGCATCCTCGCCCACTTGTTACCGCGCCGCGCTCGCCGAGAGCCTCCGGGGCCGGCCCGCGCTGCGAATTACACCTCGCCGAGGCCGAGCCCGGGGACTGGAGCCGGAAGGCGGCACCGGGCGTGCCGGGAGTGGAGTGGGCGGTCCGAGGCCGGGGCTCAGAGGCCAGCTCGCGCCTGCCCTGCGCGCTGTGGTTGCGGACGCCCCGAACCCGGAAGCGCGGTCCCGCGCGCGGCTCGCCCCCAGCTTTGACCATATATAGTCAAGCGCTCGGCTCGGCGGCTGCGGTCCCGGCGAGCCTGCGCGGACCTGGCGCTCCCCTCCCCCGCCGGCCCCGGCCCCGCCTCCGCCTTGCTCGCCCCGCCCCGGAAGTGACGTATAGCACGCCCCGCGGGCCCTTGAAAAGGCGGCGCAGACAAGCAGCCGCGTCAGAATGCTTCTGGGAGTCGGGGGGTGGGTGCCTTTCTGTTGCTAGCTTGTAGGAGAAGCTGGGCTGTAGGAAGTTTATTTGCGGGGGGGTCTTAAAGACGCTGAAAGTACTGGCGGGCTTTGGTGGGGGTCTGGAAAAACCTCTCTGTACCTGTGACCGCGTTGCGTGGCGGGCGCTCCCCGGCCTCTCCTTTTTGACCGGTCCCGGGCGTTGCCCAGCCGCCAGTCCTCCTGCTCGGGTTTTGTAAGCAGGAGAGGGATGCTTTTTACGTCTTCTTAAAGTACGGTTAAGTGCCCTTGCTTGAAGTAGTTGCTGGCAACAAGAACGTAGGGGTTACTCTTTGTTGGGCCTGAACTCGTGCTTTTTCTCTCAAAAGTTGAGCTTTTGAAAGGCAAAAAAGGCGTGGGGGATGGGGGAGCTGTCGGTCTTAAGGAAGTTAAAGGTTATTTCCTAAACAAAACAAGTCTCACTCCTAAAACCAGGGTAGTGGCTCAGTTGTGGCGGGAGAGCAGGGGCTGTAAAGTGTCCAAGTTTCTAGTCTCATCTTTCAGTAGGATGGGTACAAGCTTTCCCCTTGGGGCTCTGGGGGCTGGGAGGGTTGTAAAAGTGGGAGAAAGCAAAGTATTTGGCGGGGTGCGGGCGGGTAGCTGAATGTTGTTGTAAGTGGAAGAGGAATGCTGTTGGCGTCTTTCTCTAAGCACGGTTAAGTGCTTTTTCTTGAAGTAGTTACTGGCAACAAGAACGTAAGGGTTACTCTTTGTTAGGCCTGAACTCGTGCTTTTTCTCAAAAGTTTAGCTTTTGAAAGGCAAAAGTGGGGGTGGGGGCGCTGCTGCTTTTAAGGAAGTTAAAGGTTATTTCCTAAGAAAGCAAAACAAGCCCCACTTGTAAAACCCGGGTAGTGGCTCAGCTGGAGAGCAGGCGCTGTGAAGTGTACAAGTTTCTAGTCTCATCTTTCAGTAGAATGGGTACAAGCTTTCCCTCGGGGCTCTGGGGGTGGGAGGGTTGTAAAAGTGGGAGAAAGCAAAGTACGTGGGTGGGGGGTAGCTAAATGTTGTTGTAAGCGGGAGATGGATGCTTTTGGCGTCTTTAAGCACGGTTAACTGCCCTTGAAGTAGTTGCTGGCAACAACG
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GACTCAGTGCCTGATCTACATCCAGCCCAGGGAGGGCTATATTAGTAGCATCTCGTGCTGACCTGGCATTGCAGAAACTTAAAAATAATTGAGAAGGGAAACAGGGTAACCCCTGAGAAGAAAATGGCAAACCACGGGGAAGGGGTAAGAATACAGAGCTCAGAAACAGGCAGAATGGGTTTCACAAGCTGGGAAATGCTTTCTGCAAAGGGGTGCCTGTCCCTGAATGACCACTCCATTAGAAGCAGCTCCAGTTACTGGCCTGCCTCACCTTGCTAAGTCTGACTCCTCTTTAGAGTAACGGACCCATGTGGGGTGGAAAGAGATGCTACAGTTTAAGAAGCTATCACAGGGCCAGATGCACAGCAGGTACTTTATGTGAGGCCCCCTCCCTGGAAGTCAATGTGGACTGCAACGACAGGGAAGGCCTGGTTAGGGGCAAAACGAAATATCCTACTGCTCTGTATCCGAGGACGTGTTAGTGGATTTTATTTGCCAAACTACTAAATATCTCTTTAGGGTTGTCTCAATTTTTATTTTCTCAAAAGCCTCAGGACCTGCCTTCGGAGACTTCCAGATCATTACCATTAGATCCCTGGTGATTTTCTCCAGTTCTAAGCAAGGCCCTTCGGCTTTCTAGGAATCTGTGTGACTAGCAAGTTGTTAGCACCTTCAAAGCACATTCACACCCGCCCACCCCCTCATTTGAGGGGCCCAGCAATCCAGGGCAGGTAGAGCTCTGTCTTCCAGCAGAGGAACAGCAGCGACTGCCTGGGTTAACGAGACAGATGCGGGCAGAGCCAGCAGCTCTTCGGACCAAGAGGCTTCTCCTTTCACAGAGAAGGAAACTGAGACCCAGAGACCCCTTCATTCCCTCAGCCAGTTGCTGGCCTCCTGGAGGGCAAGTGTGTCCGATCAACAGTCCCAACCTACCAAGGGAAATCAGGCTGACTTTAAGTTGACAACCCTTGTATGCCTATGGCATCAATCAAAACATACATCTTTGTGCCAGCCGCCCCCACTAAGCACAGCACAGGAGAAATCACCCAATGGCCGGGCCGGCACCTCCAACTCCCACCCCACCAATTCCATCACTCAGGCTGAGGAAGGGAAAAGCAAAATTTAAGCGTGTAACCCAGGAAGGGAGGGAGACTGACAGACTGGGTCACCCCAACAATTACAGAGGAATAACATGAATTTGCAAGGATTTCCCAAGGAGCTGGCTCTAGAAGCCTTTTCAGCCTGGGTACCGGAGGCTTGCAGAGAATGATTCATGGGAAAACACTGCTTCCTGTTTTTGCTTTGGGGCTTAGATCCATGGTGGCAGATCTGGCTGGCCCAGAGGCCCGGGTGTTTTTCCGGGCTCTGCCATACTGGAAGACCAGGGTATTAACAGCGAGTTAGCTGAGTGCCATTCCATTCAGCAAGGGCTCAAAGTGCACCAGGCACCGCTGGGCTTGAGGGACGCCAGCAGCTCATTCATTCCATCTGCCCAGCCAGCAGGCGAAGCGAGAGTGGTCATCATCTCATCATCTGTTTTACAGACGAGAAAACTGGGGCTCAGAGATGCCCAAATCGCCAATCTTCTCAAGGTCACGCAGCGGCCGACCGGGTCAGTCTGATCCCTCAAATCCGGAGCCCTTGCTTTTAAGGAATGAACTAATCTAATCTCCCATCCACGTACTAACCAGGCCTGACCGTGCTTAGCTTCCAAGATCAGAGGCGATCCGGCGCTTTCAGGGTGCTATGACCGTAGACAGAAACGAACTAAGACTCAGTTTCCTCATCAAGAAGGAGCAGACAAGGACCTGGGTGAATCTGAGGCCGGCTTCCGGGGCTCCGAGGTGTGGCTCCCGGTAGAGGGGGCGTGGCGCCCTCACCCTCCCCGGGCCAATGGGCAGGAGGTGAGAAGTGGAGAGGAAGGCGAATTATCCCATCCCAAGGTGGCTCCGGAGCAGAACCGCGCCCGGGGTAGGGGGTACTCACGTCGATGTTCCTTAGGATGACGCACTTTCCATTGGTGTACAGAAAATTGTTGCCCTTAGGGTTGCCGCCGATGATCTTGGAGACGCCCCTCTCCACCTGCGGGAGGCTGGCGAACACCTTCTCTGCGGAGACACAAATGCGGCGGGGCATGTCAGGGCAGGGCGGGGACGGCGGGGACAGAAGGGAGAAGGAGCCCCGGACCGGTCTCGGCCGGTCACCTGTTGACTGCGCCGGGAGGGCGGCCTCCACTTTCCACGAGCGCCAGGAACCGCGCGACTTCCTGGTCCGCGCCCCGGGCCAGGCCCTTGGGGGCAGCGGGGCTCCTCCGGCTCGGCCCACGGCGCCAACTTGGGGGCGCACCCCCCGTCGGGGGTCCCGCCCTGCACCACCGAGGGCGGCCCCGCCACGCCTCCGGCCGGCGCCCGCACCCCTCCCCCGCGCCGAGGACTCCCCCGCCACCCGCACGGCGCCTAGGGGCCGGGGACCGGGGCCGGGGCAGCGCGGCGGCCGCTCGGGGGCCCCGCGCCGCGGCACTTACTGATCTCGTACGGCATCCTCGCCCACTTGTTACCGCGCCGCGCTCGCCGAGAGCCTCCGGGGCCGGCCCGCGCTGCGAATTACACCTCGCCGAGGCCGAGCCCGGGGACTGGAGCCGGAAGGCGGCACCGGGCGTGCCGGGAGTGGAGTGGGCGGTCCGAGGCCGGGGCTCAGAGGCCAGCTCGCGCCTGCCCTGCGCGCTGTGGTTGCGGACGCCCCGAACCCGGAAGCGCGGTCCCGCGCGCGGCTCGCCCCCAGCTTTGACCATATATAGTCAAGCGCTCGGCTCGGCGGCTGCGGTCCCGGCGAGCCTGCGCGGACCTGGCGCTCCCCTCCCCCGCCGGCCCCGGCCCCGCCTCCGCCTTGCTCGCCCCGCCCCGGAAGTGACGTATAGCACGCCCCGCGGGCCCTTGAAAAGGCGGCGCAGACAAGCAGCCGCGTCAGAATGCTTCTGGGAGTCGGGGGGTGGGTGCCTTTCTGTTGCTAGCTTGTAGGAGAAGCTGGGCTGTAGGAAGTTTATTTGCGGGGGGGTCTTAAAGACGCTGAAAGTACTGGCGGGCTTTGGTGGGGGTCTGGAAAAACCTCTCTGTACCTGTGACCGCGTTGCGTGGCGGGCGCTCCCCGGCCTCTCCTTTTTGACCGGTCCCGGGCGTTGCCCAGCCGCCAGTCCTCCTGCTCGGGTTTTGTAAGCAGGAGAGGGATGCTTTTTACGTCTTCTTAAAGTACGGTTAAGTGCCCTTGCTTGAAGTAGTTGCTGGCAACAAGAACGTAGGGGTTACTCTTTGTTGGGCCTGAACTCGTGCTTTTTCTCTCAAAAGTTGAGCTTTTGAAAGGCAAAAAAGGCGTGGGGGATGGGGGAGCTGTCGGTCTTAAGGAAGTTAAAGGTTATTTCCTAAACAAAACAAGTCTCACTCCTAAAACCAGGGTAGTGGCTCAGTTGTGGCGGGAGAGCAGGGGCTGTAAAGTGTCCAAGTTTCTAGTCTCATCTTTCAGTAGGATGGGTACAAGCTTTCCCCTTGGGGCTCTGGGGGCTGGGAGGGTTGTAAAAGTGGGAGAAAGCAAAGTATTTGGCGGGGTGCGGGCGGGTAGCTGAATGTTGTTGTAAGTGGAAGAGGAATGCTGTTGGCGTCTTTCTCTAAGCACGGTTAAGTGCTTTTTCTTGAAGTAGTTACTGGCAACAAGAACGTAAGGGTTACTCTTTGTTAGGCCTGAACTCGTGCTTTTTCTCAAAAGTTTAGCTTTTGAAAGGCAAAAGTGGGGGTGGGGGCGCTGCTGCTTTTAAGGAAGTTAAAGGTTATTTCCTAAGAAAGCAAAACAAGCCCCACTTGTAAAACCCGGGTAGTGGCTCAGCTGGAGAGCAGGCGCTGTGAAGTGTACAAGTTTCTAGTCTCATCTTTCAGTAGAATGGGTACAAGCTTTCCCTCGGGGCTCTGGGGGTGGGAGGGTTGTAAAAGTGGGAGAAAGCAAAGTACGTGGGTGGGGGGTAGCTAAATGTTGTTGTAAGCGGGAGATGGATGCTTTTGGCGTCTTTAAGCACGGTTAACTGCCCTTGAAGTAGTTGCTGGCAACAACG
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Task1_train_8463
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A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Joubert syndrome 9
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACCGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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Task1_train_8464
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This variant impacts the gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Meckel-Gruber syndrome
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACCGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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Task1_train_8465
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This variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Evaluate its biological effect and specify any disease association.
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Pathogenic; Familial aplasia of the vermis
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACTGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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ACAGCCATATTTCAGCCAAAGATAGCTGCAAATTGTAATTTTTCTTTAGCTGTAATTATAAAATTGAAAAAAAAAAGGTTAGTTTTCAGGACAAGTGTAAGACTGTGTGATCTTTGAGAGCAGGGACCCTATTGCCATTGTATATTTGGTCCCTACAAGAGCACCTGCCACTTAGTATCTGCTCAGTTAATATTGGTTAACAAATTCAAATATGCTACCCCACAAAAATAATGGCTGTCTCCCAGAAATTCCAGTGTTTGTGCTTTCGAATTCCATCTCCTAGGCTGAGCCTCCCACAGAAGCAGTACAGAAATCCTTGCCAGATTATTTTCTCTCTCCCTCCCTCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCGCCCATCATCCCTGCTGCTAACTCTCCCTCCATCCCTCCCCTCCTTCTTTTTGAGTTTATAGGGTAAACTAAATTTATAGGCATTTTACCCATAAGGTCATAACACTCCTTCCCCTGATAAGTGGCTATCTTCCAAATTCTTTTGGAGTACCCTTTTTTCACATTCTTGATTCATCTAGCCACCTTATAATAAAGCATAGTTTTTCCCACAAAAAAAAAACTATTCAAGTTTATTCATGCTTTTGAATAACAATGAGAAAAGTGAATGGTTTTCTGTATATCAGAGATGGAACATAATTTTGAAGCCGAATTCCCCCTGGTGTTTATAAATTTCGGGTACCACTGTGCATCCAAAGTGACTTATTTGGTAGTCATCCTAGAGAGCTGCAAGAGCTTGTGCCTTGGGGGACTGTAAACTGCTTAAACTCCAGGCGATATGTGTCCATAAGCAAATATTTGTCAGCTTTATGCACTTGTCTAAGTTTATGTAAAATGGATTACGAAGCTTAACTGCCTTGGGGGAAATAGTGCAGTCAGTATTCGGCACCATCTCCAAAGTGCTGGGTGGGATGGATGAAGTCACCACACATTTGCCGCCATCTACCAGGAGAGCCATGCTGTTCATCAACATGTTAAGGGCTCTGAAAAGATGACCAGCAAGGAACCTTTCACACTTATTTAATCCAGTGTTAATATGGCCACAATATCTTTTCCTGGTGGTACATCTCACAGAACTAATGTCCTACAGAACACACTGTGGGAAACGGTGGTTTGAACTGGGCTGATCTCCTGGTGGAGTATAAGCAAAATCATCAAAGAAAAACCCAAATCCTCCATCCAAAGTCAAAAAAGTGGTTTCACCATCATTCTCAGCAAACTATCACAAGGACAGAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACGTGGACACAGGGCGGGGAACATCACACACCAGGGCCTGTCGGGGGTGGGAGGGTTGGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGATGGGTTGATGCATGCAGTAAACCAACATGGCACATGTATACCTATGTATCAAACCTGCATGTTGTGCACATGTACCCTAGAACTTAAAGTATAATTTTAAAAAATTAAAATTAAAATTTTTTAAAAAGTGGTTTCAGGGACTCAGTAGCAACAAAATGAAGCAGTTCCTCAGAGACTTGAAGAAGTCATAAAATAACTAATGAAATTTCCACCACTATCAGCTGAGAACTTACAGGCCCCATGTCAGCACACCACACAGATCATTTAACACAGAGAGGCATGGCTGCTCAGTGTTCAGTGGGTTGGGCTCATATTCAGCCCTTCCACTCACCAGCTGTGTGTTCTTGGGAACTTACTTAACTTCTATGTGCCTCTGTCATCTCATGTATACGATGTGGATAATAATAGCATCTGCCTCACAGGATTGTGAGTTTACATGTGCGACATTTTTAGAAGAGGAACTGGCACATAGCAAGTCCAATATAAGTATTTGCTGTTATTATTGCTCTCTTACTTAATTTCCAGAAATAACCAAGGGACTACAAATTATTTTAAAGGGAAAAAGCTGACCAGAAAGCAGATGAAGAAGCATATGAAGCAGAAATTCAAGCTGAAATAAGTGAACCGTTAGAAGAGCACACGGAGGAGTACGCACAGAAGATGGAAGAATACAGAACGTCGTTACAACAGTGGAAGGCCTGGAGGAAAGTGCAAGTGTGTAAACAAACACTCAGCCTGGAATAGGGCTGGCCAGGAAGTGTCTGGGAGGGCAGCCTCCAGTACAGGAGTGGGGAAACCAGACTGGCAGACTAGGGTATCCTGTGGCTCCCTCTGTCTCTTCCCCGTCCCCTGGCTAAGGGATAAAAGGATGAATGAATTGACTGGCTAATGCATTTGCTTAAAAAGCCACCCAGCTGACTGATACCAGAGCCAGCTGTGTCCACAGAGAATGCTATGGTAGCACTCTGTGCCTATTTAAGTAATAATGTAGTAATCACTAATGCATGTGTCCAGCACTGTGCTGAGTATCTTACATGCATTATTCCATTAAATGTAGGGATTGATGCTTCTGAGTTTCCTTCAGAAAATTATATAACTTTATGCACATGACCCTACAAAACTGAGTCCAAGGGCAACAAATAATAGATCAGGTGGGCCTGCAATGCTCACTGTGCTTACATGCCTTATTTTAATATTTCAAGATGTGTACTTCGCCTTGAAAACCAAAATTAATGATCACATGAATACCTACCATTTTTTAAGCTCTTTCCAGGGACTAGGCTGTATGACAAATGCTTTTTAGGCATTTCAACAGTCTCATTTCAACAGCCCTGGGAGAAATTTCCTGGGCTCCATTCTGTAGATGAAAAAACTGAGGCACAGAGAGGTCAGGTGGCTTAGTGACCTGCCTGATTACACACTTCTGGTTGAAATGGGGCTGGGGTTTGTATCCAGGTCCATCTGGCTATGAAGACTGTGCTCTTAAATGAAATTCCAAAATTCCTGTTTGATATCATGTTGCCTCTAACTCAACAGAGGGCCAAGAAGAAGAAAAGGAAACAAGCAGCAGAAGAACATCCCGGTGATGAGATTGCAGAGCCGTATCCCGAGGAGGACCTTGTGAAGCCCAGCCCTCCAGAGCCCACTGATCGGGCAGTGATAGAGCAGGAGGTGAGGGAGAGAGCAGCCCAGAGCAGGAGGAGGCCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGGAAGCGTAACACCCAATGACCAGTGCCCCAGGTGAGTGGATGCTCCGACCGTAAATGAGGCTGACATCTGATACACATGTTCACGTGGGCACATGCACACACACATGCACGACATGGGGAGTGTACACTTACTGACCTACACGAGCATCAGGAGTATCATTAACTCTAAATGAATATTAGGTTGAACCACATGAAATTGCTGACATTTGCCCACTTTAGGTGATTTCATATGATTCACCTACCTCATGCATCTGCACTGGCCACTCAGGAGCACACTGGAAAGCTCCCTGTAGGAGAAGCATCCCAGTTGCAAATCTCTGCCTGCTCTTCACAGTGGCTGTCTGTGTGGCTTTTGATTTGAGTCCCTTATCTGTAACCTCAATGAGTCCTTCAGTCCACTGGTAGCATGTCCCACCTTTCTGGCACAGGCACGGATGCCTTTCCTTGCCCCTTCCTTGATTTCAGCTGCTCCAGGGATCAGCTTTTCTCCTTGAAGACCCCCCAGAAAGTTGTGGGTGGTATTTAAGTCAGGCCATCTGAAGCACACCCTCCAGATATGATAAAAATACATGTCTAGTCATTCTCACTTGATGCCTAAGAGAAACATCATTTGATTTATATACATTTGTACATATAATAATTCATAAACATACATTTGTAAGTTCATCTTTTTAAAAATTATAACATAATAAAAATATTTTTATGTTTCCTATTTATTCTTTCCTTCACTGAATAGCCATGGTTCTCAAAGTATAGCCCCAGAATCAGCAGCATCAGCATCACTGAGGACTTGTTAGAAACATAAACTCAGGCCAGGCATGGTGGCTCATGCCTGTAACCTCAGCACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGGCCAGGAGTTGGAGACCAGCCTGGGGAACAAAATGAGACCTCACCTCTAT
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Task1_train_8466
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This variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Evaluate its biological effect and specify any disease association.
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Pathogenic; COACH syndrome 2
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8467
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The gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Meckel syndrome, type 6
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8468
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Consider a variant on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A). Determine its clinical classification and disease relevance.
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Pathogenic; Joubert syndrome 9
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8469
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The variant affects gene CC2D2A (coiled-coil and C2 domain containing 2A), which is on Chromosome 4. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Retinitis pigmentosa 93
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8470
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Gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; not specified
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8471
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Gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Meckel-Gruber syndrome
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8472
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This mutation is located in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Familial aplasia of the vermis
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCGACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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CTTTCTAAACAGCATCCTGTTTAATCTGGTGTTTCCCCAGGAGTGCCCTTCTCATTTGAAGCTGATGGCAGTAACCAGCTGACTCTGATGACCTCAGGGAAAGTGTCTCATAGTGTGGCATGGGCCATTGGAGAAAACGGGATACCTTTAATTCCTCCATTGTCACAGCAGAACATCGGATTTCGGAGGTAATACATGGCAAGAGTAAATTGATGAGCAATGTCAGTGTTATCATTAAAGATACCCAAGGGGAAAGAAAGCTTGCAGTATCATATTCTTTCCTTTTATTGTCAGGTGCCAGTATTTTCAAGAGTTTTTTATTCTTAAGGTAAAAACAAAAAATGTTTTATAATAACCTCTAGTCCAAAAAATTAAAATATTAATAGCCTAAGAAATATTAAGTGTTTATCGGTATTCGATACAGTGAAAAGAACTTAATCTTCACAGTAACTCTAGGAGGTATTCTCTCCCCTATTTTACAGATGGGGGAGATGCACAGCATCACAGTTGTATATATTTTGCCCTTAGTAAAGGTTTGTTGCTAATGATGATTGGTGTAGGATCTGCTGTTTACATGAAAGTCCCCATTCTCCAGCCTCCTCCCTTGATCGCTATATCCTTGAGTCTCTACTCAGAACAGAAGAAAGGCACTCTGGGCCTCACCCTAGGCCAGCCCCTCCCTGTGTTTGATGGTTGTCCCTGAAGCTTAGATTGTGGTAGCCCGTGGCCTGGGTCTTCCTCTGTCAGAGCCTCTCTCTGTCATTCCCCAGTAGATGTGTCTACAGTCAATCATTTCACCATTCCAGGCCTCAGTTGCCTCATCTCTAAAATAAAAGGATTCATTGTGATCATGAAGAAGACACTTTCCAAGTCACAGGCTGTCATGTTCAACTTATGGAAAAACAGAATTGGGCTCGTTTAGTTCCCTTGATGCCTTCAATCCCCATAACGACCACACATGTCCATGTGATAAAAACCACAAGGAGATGCTGCTATTTGCTTTCTAAGTCAGAAGCCACTTCCAGTGGAGGCCTGACTATGCCTTTGAATGTAAGAAGTCTGCATTCATTTCACTTGCATTTAGTGCTAGAAAAATCTCCTGGGGAGTAAAGCTTTCAACTCCTCAGAATAGAAGGTAAAACACAATGTGAGTAACAAGATATGCAGGACTATTAATAAAGCCCCAGCTCAACCTTGCTGACTACTGTGGCTTCCTTTGATCTCCAGGTGTCCAAAGCTGGTGCTTAAGTTTGTTGTTTAGTAGTTGGTTTTAGGCTGGGCACGGTGGCTCACGTCCATTATCCGACTATTTTGGGAGGCCGAGGCAGGCAGATCACATGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATGGCAAAACCCCATCTCTACTAAAAAAAATAATAAAATTAGCTGGGCATGGTGGCGCATGCCTGCAATCCCAGCTACTTGGGTGGCTCAGGCATGAGAATCATTTGAACCTAGCAAGTAGAGGTTGCAGTGAGCTGAAATCGCACCACTGCGCTCTAGCCTGGCCGACAGAGCAAGACTGTCTCAAAAAAAAGAGTTGGTTTTGTTTCTTTTTCTTTTGGTTTGTCCTCAGCTATAGTGGGCCCCAGTGGCCTGGGATGTGAGGCTTTGTGGGCTTCCAGCACCAGATACAGAGGCCCCTCTTCACTGGCCAGAATCCAGGGACCAAGGGGCACTTTTATGCACTGGACAGAGTTGTAGGAATTAGTCATATCTGCAGTCCTTCCATTCCTGTTTCTTTATTGTCCTTATGTTTAATAGCCATCATCATGTAAAGAAAAATGACAAAATCCTTCCTTATGATAACATTTTCTCTCATGGAGGATAATAGCTTCCTCAAGTCATGCTGTCTCTAGAATTTGAGGTCCTGATGCAAACTGTTCTGTGGTCAAGTCAGTCTCATGGAATCAACTCTTCTTTTCAGTGCTTTGAAGAAAGCAGATGCCATCTCATCTATTGGCACATCAGGACTGACAGACATGAAAAAATTGGCCAAGTGGGCAGCAGAGTCCAAGCTCAACCCAAATGACCCCAACAATGCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCACACATGCCATTTCTTGACTTGGCCTTTTACACAATTTTCCTTTACACTATCTTCTCCTATGCAATACTGTTTAAGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAA
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Task1_train_8473
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This gene mutation involves CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Neurodevelopmental disorder
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AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAA
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AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGAAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAA
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Task1_train_8474
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A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Joubert syndrome 9
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AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAA
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AGAACATGGGTGCTGGGTTGAATGCCAAGTTTGAATTCCAGCTGTGCTTCTTGCCTGGCTATGGGACCCAGGCAAGTATTCAGTGCTTCTAAGCCCTGTGCTGCTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGAAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAA
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Task1_train_8475
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Gene CC2D2A (coiled-coil and C2 domain containing 2A), found on Chromosome 4, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Familial aplasia of the vermis
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8476
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An alteration has been detected in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Meckel-Gruber syndrome
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8477
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A variant on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; COACH syndrome 2
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8478
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A genomic change on Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Retinitis pigmentosa 93
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8479
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Given a variant located on Chromosome 4 and affecting CC2D2A (coiled-coil and C2 domain containing 2A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Joubert syndrome 9
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8480
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A mutation in CC2D2A (coiled-coil and C2 domain containing 2A), located on Chromosome 4, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Meckel syndrome, type 6
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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CTGTCATAGCGGGGTCATGAGGAAATGAACAGCTGCAGATAAACTCTTAGCTCGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGAAGGAGGATCGCTTGAGCCCAAGAGTTCGAAACCAGTCTGGGCAACATGGCGAAACCCTATCTCTGCAAAAAATGTAAAAATGTGCTTGGCACGGTGGCGCATGCCTATAGTCCCAGCTACTAAGGAGGCTGAGGTGGGAGGATCAATTGAGTCCACAAGGTTGAGGCTTCAGTGAGCTGTGATCTTGCCACTGCACTCCAGTCTGAATAGAGTGAGACTCCCATCTCAAAAACAAACAAACAAACAAAACCCCTTTATCTGGGCACACAATTTGTGAGCAGTAAATATTGTTGTTGTTGTCACTCCTACCTCCAACCTCTGTAAAACTCCTAAAGGTTTTATATCCCCTTCTCCAGAGAGGAAGCTGAGTTCAGAAACTCAGCGTTATTTGCTTAAGGTCACTCAGCTAATAAGTCGATTTGATTTCAGGACACTTGCTTTTTTCATCACAACTTAAAGCACTGATGGGGCATTTTAGGGAAAATTTGTTTTGTTTTCTTGTTGTTGATTAATTAGTTATCATTTAGGTTTCACTTAAGTATTTACCAGATAAATTGCTCAGATCTACCATAATATTCAAAATTCTTTCTTCAATGAATTTGCAAATAAATTGGAACATTAGTTTATTTTTCTTGGTATCGAATACAATTGGTTTTATTGGCAACTTCATTATTCACACAAAGCCATAATAAACAAGTAGGTAATCCAGAGGGTAGCCCTAGCAACACATCCTTATGATCATGGCTATCAGTATGTGTTTATCAATAGGATAATTGTAGCCGGCATGAACATTTTCATTTTGGTTCTAGTTTTTCCAAGTCCCATAACAAACCTTGGTTTATTCTGACTTTTATCTTTATAAACTCTCCTAAAGCATGATACACCTTAGTGTGCCTAATAGAAATATTTGGAAGATTGGGTCATATTACCTAAAATGTAGTCTATTCCATGTAAAGTTTTCAAATCACATTTCAATAGACACGTCACTTTCATTATTTTCTTTTTAACTATATGTTTTCCCATCAAAGAACAAAACGGGGATTGCCTTCTTGACTGGTCTCTTGCTATGAACCAGGATTGCCTTTCCCATGCAAGGCCCCAGCACATCTTGGGGCACTAGCTTTTCCTCTGCTCAGGAGGAGGTTACAGCCAGCAAAGCACCAAGCAGAGAGGCAGGCAGCACCTGGGTGAGGTGCAGTCCACATCTGCTCAGCTTCTCAGAGGTGCCAGACTTGGCCTTCTTGAGACAATGCACAGGGGCCTTGGAGGCTGGCTGGGCTGGATCCATCTCTGGCTAACTTTTCTCAGTGACCAAGGCTGTGAGGTGCTATTCAGGGACAGGAAAGCATGGCTGTGGAGCCAAGTAAAGCTGACCAGCTGCCTCTGAGGCCTTTATCTGCATATGCACATGACATTAAAAAGTCATATATTCGATTTTATATACGATATGTATATGGGTAATCTTATTTCTAGTAGGCACCTCGTAATACACTGTAGTCTGGCACAAATCTCTCCTTTTTCAGTCTGTATATTTGTGTAATAACACTACTAGGGAAGCATGAACACCAAAAGTGAAACATATAATTTTTATTGTTTGGAAAATGATTTGTGGTATTGTTTATAGCTACTAAATGAATATAATAGCATGTGACTCATTATTATTATATTTTAAAGTATTTTGTCTTTCAAGTCTTTTAATCTAAAACTGTTAAATGTTCCTTGACACTCAGTGCCAAGTTTCTTTGGATGAGATCTGACTGTCATCTGGAGTTTTGCATTTTCCGTTTTTTATAGGTTGCTACCAGTGGTGAATCCTATGTCCCTGATTTCTTTAGACTGGAGCAGCTGCAACAGGAGTTTAACTTTGTTTCAGATCAAGAATTAAATAGATCCAAACGATTTAGGCTTCTTCATCTTAGAAGCCAAGAGGTGCCAGAATTCCCAAATTATAAGCAAGTTCCAGTCTATGACCGAGAAATTATGGAAAAGGTATTCCAGGTAAGAAACTGCCATAGAGGGGTTAATAAAATAATAAAGTACCTACTGTGCTGTTAGGTATACTACTGTATATGTATTTTGTTTTTGTTATGTTGTCACTAGCAATAGCGGTTTCTCTTTTATTTCACTTTTATACATAACCTTTCCATGCTTTTTCTTGAATTCACCATTTAAATAATCTCTCTGCCTCAATATAATGATATATAAACTAATCAGTAACCAGGATTCTGAGTCAACTGAACTGCATACAATTAGAATTGTAGGGTTGAAAAATATCTTAGAGGTTAATATGGCTAATAATATGGCTAGTTAATTATTAACATGGCTAATTATTGAATGCCTTAGTCAGGAATTCAATTCCATTTTAATGCAGTATGTACTAAGTGTCATGTACTCAGCACACTGGTAAAGCACTACAGGGAAAACTAGAGGGATAGGATCTGAATAGCCATGGGATGGGTGGGGCATGAAGGAGGTAAAGGAACAGGGCTGGGCATCCATCCTGGTCAAGGGCAGCAGGAGGAACAAAGACTCAGAGGAGGGCAGATCGCACCTCCAGGTGTGGGGTGGAGGAGCCTTTGAGGAACTGCAGGTAACAGGCCTGTGTAGGTGGGGCAGGCCAGTGAAACCAGATGCATGCACTTTTTTTTTCTTTTTCCCTGCTTTTCATGAGCTGTAGACACATGCACTTTTATTAATACTTAACAAGGTAAATGGAGAGCCATCAGGAATTAGTACCAGGAAGATTTTTCATGGCAAAACTATTCTTGAAGAATATGGTTGGTTATTTGGTTCTTCTCTGTATTAGTTTGGACTTTGATCACAGGAGATAAAAGCCAATTTTGAACTACCTTAGGCACCAAGGGGAGTTTACTGGATGATGAAATCTCAAAATAGCATTAAATATCTAAAAACGTGTGAATGGCATGAGTGCATCTGTGCCTGGCCTGCTACCAGGACCCTTCTCCATCCTCTCTAGGCTTCTTTGATGTGTTGGCATCATGCTCCTCCTTTGCAGACAGGTTTTCTCTACTTGACCACATGGTCACCAACATCATACAAGTTCACATCTAGTATCTTCAGCCAGCAGAGGTGTGTCCCCCGAGCCTGAGTTAGGTACCACTACCAGGCATTCAACTGTGACCAAAGAGTGGGATTAGAGGAGAACATAGCAGTTCCCAGGGCACACACATAATTTTGTTGACAGAAAAGGGGAGAGGCCTGAGCAGACAAAGCCAGATGTATGCATCACTCTCCTCCAAGCAGATGACCTGGCTCAGCTACAGCCAGATGTTATATGATTATGGTAATGTGTTAACTGAAACTTTACTTAAAACAGAAAAGGCAAAACTTAAGCAGGAGCTTTGGCTAAATTGCTTGGAAGAGCTTCTCTGTGGCCTCTATTTCTTCCTGACTTAACGTTTTAACTTGTAACTACTATACAGAATTCTCTTCTACTAGTAAGGCATTTCAGCCACCTGTCTCAGAATCCTGGTTACTCTATCAAAGACCAATTCTGAACCAAAAGTTAGGAAGAAGGTGGAAGAAATATTTAAAACCACAAGTTATAACTTAAATCATATGTGATAAATAATTACCTGATCTTAAGAAAAGCACCAGAGAGTGCTTTAAAATCATTGCCTCTTTTTAATTTTAGGACTATGAGAAACGGTTACGAGACAGAAATGTAATAGAAACCAAGGAACACATAGACACCCATAGGGCCATAGTAGCCAAGTACCTCCAGCAGGTAAGAAAAATCATATAAAACTGTCTTCATAGGGAGAAAAGAGCCAGCACCCTAAGGTGGAAAGTCCTCTACTCTTTTAAATATCTATGTGAGCTTATGCAAGCCACTTAGCTTGCATAAATTTCCTCATAAACACAAATATATAATTGATTGACAACTATCATCACCTTTCAAATATATGAAACAACCAGGCTATGTTCTGGTTTATTATCAGCAGTTACCTTTTAATGGGTCATGATTAC
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Task1_train_8481
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This mutation is located in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Joubert syndrome 9
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGCGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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Task1_train_8482
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This gene mutation involves CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Meckel-Gruber syndrome
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGCGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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Task1_train_8483
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A genomic change on Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Familial aplasia of the vermis
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGTGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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CACATAAATCCATGCAAAACCTCTCTCTCTATTCCAGGCCCACAGTCCAGTCATTGAATGTTTTCAAAGTCATGAAAATTACACTTAGAATAGATGATGATTTTTCATATTGTTTTTTTTTTCTTTTCCTTCCTTTTTTTCTGCTTTACTTTCTGCATTAAGTTCTGAAGGCTCAGGGTATGTTCTTTCTTCTTTTAATTTCAGTTCCTTCTTGGCTTTAAGATGTTTCTGTATTTGATGGTCCTGGCTGACATGGTGCTCCCATGCTGACTGCTATGGAGACATCAAAGTCTCAGGGAGGACTTACCTCCAGGGGAGGGAGGAAGCATTGACAATGGAAGAGTGTTGTCATGTTAGGACCTCTAACAAAGTTCTGTCTCTGAGGCCCCCTAGTTTGGGTTAGGTAGGTGTCCTGGCAGAGTGATTAAAAACATGAGCTATATAGTCACAGTGACCTGAGTTTGAACCCCTGCTCTCCCTCCTACTACTAAGGAACCTTCAGCAAATCATAACACCTCTCGTAGCCTCTAATTTCTTCATCTGAAATACAGGGTAAATATTATATGCGTAAAGATTAGAAATGTTATATGTAAGGCACCCAGCACTCTTCTCAATACATAGGAGGTGCTTATAAATGGTAGCTATTTTGTGTAAAACCTTGGAGAATAAACAGGAACAACAGCTCCTGGAATCCTGGAACTTCCTTGGGTTTCCTTATAGGAGCTGTCAGCAGCGCCTAGACAGGAGCTGCAGAGACCTCAGCCTCAGCTGGCATGTGCCTCTTGCAAAGAGGGGCTCCAGTCAAGAGGTCACTTAGCCAGCTCTGATCCTCAGGAAGGAAGCAGAGAACCATGTGCATTATAGCCTGTGGCCAGCTCTGCAAAGCTGGCTTTGTTCTTTGGCTGTTTCACACAGCCATTAACATCAGCTTCCAGATACAGTCACATCTTTGTTTCTGTTTAGTTTCTGGGCCAGAATTTATTTGGTCCATGAACGTTTCTCCTATGATTCACTGACTCTGTTGCTTTCATCTTACAGGAAGTGTTTCTTGCATATCATCTCCGTGAAAGGTAGAGACATGAGAGAAGGAGTCTCTTGCTTCTCCCCTAACCCCTTCCTCCTCCCTATACCTCCTCCTCTTCTTCCACCTTAATCACTGGCATCAACCCAATAGTTACCATTTTAGGACATCTACTAAGTGCTAGAGCAGTGTCAGGGTGCTTTACACACACTTCCTTATTCAATCCCTTCAACAATCCAAAGAAGTAGGTATCATTATCCACATTTTACAGATGATGAAACAGAGACTTAAAGAGGTGAAATGATTTGCCCAAGGGCAAAGAGTGGAGCCAGGATTCACACCCAGTTCTAACTCCAGAGTGAAAGAGATAACCCAGGAACTGCCTAAGCAGCTGTACACACCCACTGTCATGTGAAGGGAGCAGGCTAATAGGAGCTCAAGAGGTTTGGAAGAGAGAGTAACCCTTCCAGCTGGAGTAGCTGAGTCTCTGGGGGAGGTGGACACTGGCCCCAAGGGATGGGTAAAACTGCAACCAACTAGGCAGACAAGGAAGATGCAGGGAGGCATTCCCTCTGCAGGACTGGCCCAAGCAAATGTGAAGGATGGGAGACCATAGGCATGTTTGAGGAACTGGTGGGTGAGCAAGGTAGAGATAAGGCAGGAAATGTAAGGGCCAGAGCATGGCTTCTCTTCCTTGGATAAGCAGCAGCTAGAGTAAGTTTTAACAATCCATGCAGTAGGATCTCGCCCATTTGGGAGAATTTCTAGACTATTTCCACCCACCTTCAAAGGACAAGGAGTTTTTCAGGGGCGTGTGCAGGACCATGGGGCAGAGTTCGGGAAGTCGTCTCACAATTTTGCAGACCTTTCTTTTTCTTAGAGTCCTGATCCTGTTCTGTAATCATTAGCATTTTGGGCCTAAGCCTTTTCAAGCTGGCAGAACAAAAGCGACCACTGCGGCCAAGGAGAAAAGGTCGGAAGAAGGTGACAGCCCAAAACCTGTCTGATGGAGACATAAAGCTGCTGGCGAACATTGTGCGAGCTTACGACATTCCAGTGAGGAAGCCGGCAGTGAGGTGAGAGCCCTCCCAACAGCCCGAGATGCAGTGTGCAGCATCCCAGCCAAGTCAATCGCTCCTTTACAGCATACTCACTCTCATTCTTAACGTGGTTATTGTTCAGCAGGGGACTGAGGGTTCTTGCAAAGCCAAGGCCCTACTGTTTGCAAGTAATACATTCCAATTCCATCAATTCAGGCTAAAGAGGGGATTTATTAAGAACATCTCAAATAACTCGGACAAGAGGTATAGCTGAATTACAAGGGAGACTGCAGGGATAAGATAGTTCTCCTGAGGCCCCGTGGTCTCTCACTTGCCTCACTCTGAGTTTGCTTCATTTTTCTCCATGTGATGGAAGTGGCCCATGCAGCTAGAGTACCACCAATTAAGCGTCATTTTCTCCAGAGAAGTCTGAAGGTGCTAACTTGGCCAGGTGTTGATCCATGGTCTAATCGCCGATAGCCAGAGAGACAGGGTCAGAAGCACCAGCCCCAGAGATAGGAACAGATCTCAGAGAAGTGGGTATGAGCTGGGGAGAGTCACAAAAGGTGTCTGTCCAAGGTTCTGAAACATATGTGCTGTGAACATAAAAACGTGGCTTCCCTTTCATCTGTTCGGAGAAATGTGTTACGACTACTAGAATTCACTACACCAGGGGTAACAGGGAGCCTTCAGCCATTGGGAAGATGAGTCTGAGGAAACAGAGAAGGAAGGACCAAAAATTAAAACTTCTTTTTTTTTGTAGAGACAGGGTCCTGCTATGTTGCCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCTCCTGCCTCAGCCTCTCAAAGTGCTGGGATTACTGGTGTGAGCCAATGCACCTGGCGTGAAACTTCTTTTTGGTAGTGCCCTTACCAGTGTAATGGGAGAAAGTAGCACTTAATGTGCATTCACCATGTTTCAAGCACCATGGTAGGCAGGTTCACATATAAGATTTCATTTAACTGTTACTGCTATTACTATCTCCACTTCACAAAAGGGGAAATGGAAGTAAAGAGAGTATAAGTGGCTTGGCTAAGGTCATTCAGCCCTAACTGTTTCCTTGGAAGAGCACTGTTCCAGCCCTTGGTGTCTTTTCTCCCTAGGTTCTTCCCCTTTAATTTAGTTCTGTCTCTCTCCTTCCTCTCACCCCATTATTTTGCCTTACATTTTTTATTTTGAAACAGGGTCTCACTCTGTTGCCCAGGCTGAGTACAGTGGTGCTATCACAGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGATCCTCCCATCTCAGCTTCCCAACTAGTTGGGACTACAGGTGTGCCCCACCACGCGAGGCTAATTTTTTATTTTTTGTAGAGACAGGCTGTCCCCATTTTGCCCAGGGTGGTCTCGGACTCCTGGCCTCAAGCGATCCTCCTGCCTCTGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCACCCGGCTCCTACATATTTGTGTGTATGTGTGTCTTTACATTTTTTAACTAATTCGTTAACCTATTAGAGAGCATCTACAATCATCAACTATTCCTAATGCTTTGTTACTTGTAAATGTCCATATAAGCTCTTGAATCTGCTGTGGCATTGCTTTCCTGAGCTCACAGCCTACCCTTTCACCCTGATTGCCTCAAAGCTCAACTGGGGTGAAAAACTATTTTTTAAAGAACATATAGGTGCTTCTTGTAGTTTTCACCTCCATAGACTATTTTTAAGTGTTAAATCATTTTATTCAACTAAATTAAGGGAGCATAGTTGATCCTACATGCTACACATTCAATGCAGATACATCGAGACAGCTCAGACATCAACTGTTCCATTAAGCCTGCCCAAGTCTTTACCATTTACCTTTGCACTCATCCACATACGGTTTTTTTTTTTTTTTGCCTCCCTCACTGTTCTAATACAGCCTCTGACCATCCCTCTAGTCTAATACCTATCTCACTTTATTGAGATGATTTGTTTATGTGTCTGCCTTCCAGTCTAGTCTGC
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Task1_train_8484
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A mutation found in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Meckel-Gruber syndrome
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AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTG
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AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGGAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTG
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Task1_train_8485
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This alteration occurs within gene CC2D2A (coiled-coil and C2 domain containing 2A) located on Chromosome 4. Is it associated with a disease or is it a benign variant?
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Pathogenic; Familial aplasia of the vermis
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AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTG
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AGGCTGGAGTGCAGTGGTGCAATCACAGCTTACTGCAGACTTGGAAATCCTGGGCTCAAGAGATCCTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGGAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTG
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Task1_train_8486
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With a mutation on Chromosome 4 in gene CC2D2A (coiled-coil and C2 domain containing 2A), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Familial aplasia of the vermis
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CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATAC
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CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATAAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATAC
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Task1_train_8487
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A variant found in Chromosome 4 affects CC2D2A (coiled-coil and C2 domain containing 2A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Meckel-Gruber syndrome
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CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATAC
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CTCCTCCCTCAACCTCCCAAGTAGCTAAGACTACAGGTACACACCACCAAGCCCAGCTAATTTGTTTTATTATTTTTTTAGAGATGGGGTCTCATTCTGTTGACCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATTCTCCCACTTTGGCCTCCCAAAGTGCTGGGAATACAGGCATGAACCATTGCATCCAGCCACAAGTGTTTGTTTAATAAAGTAACTGATGGTTTTCCAAAAAGAAAAGAGCTTTTCTATGGTACCTGTTGCATTAAATGTTCCAATTACCTTTGTCTGAAACCTTAGCTGTGAAAGGTGATAGTCTATAGAAAGAGACTATTTGTATTTTGCCCAGTGATGAATGTGAAATACTTGGCAAACCATAAGGTTCAATACAAATATGCAAGTATGTTGTTAGGGTGATGGTGGAGGTATCTGGAAGAGACTCTCTGGATTTGATCTTCATTTGTTCCTTTAAGAACAGCAGTTGAGAAGGGAGAAGAGGATAAGACTCGCTGATCCTAACTCAAGCTAGGAATCCCTGCACCTCCCTTTCCTGGTGAGGCTTGGCAGGCCCCAGGAGATTCCTTGCCTGACATGTGTAGCTTGGGGTTATTGGAGAGTGCAGGTACAAAGAACAGACAGTGGGGAGAACCTGGACTGGATGGAGATGGGGCAGGCTGGTCAGGAAGCTCAGGATCTCCTATCTGTGAGGGATTGAGGCTCTCATCTATGGAGGGAAAGGCAGGTCCCCCATTCAGGCGCCCCCTAGAAGGGAGGAGAAAGGAGACATTTTCCTTTGTTCTCAGCACACAGGCCTGGGCATGGAAGTTGGGGAAGGCTCTAGCAATCTCTAGGTGACTCTGTGGGGACCAGAGCATACTAAAAAGCCTTCTGCAATGTCAACAAGCATAAGGGAGAATGTTTGTCACCACAGCCACCAGGGCCATACATCTTTGGAAAAAAGCATCTTCTCAAGCTGGGCATGGTGGCTCACACCTGCAATATCAGCACTTTGGGAACCCAAGACAGGAGGATCACTTGAACGCAGGAGTTCAAGACCACCCTGAGCAACATCCTGAGACCTCTGGTCCCTACAAAAAATTTTAAAAATTAGCTGGGCATGGTGGAGTGTGTTTGTAGTCCCAGCTACTCTGGAGGCTGAAGTGGGAGGATCGCTTGAGCCTGGGAGGTTGAGGCTGGAGTGAGCCATAATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTATCTCAAAAATTTTTTTAAAAATAAAAATAAGGCTGGGTGCAGTAACTCATGCCTGTGATTCCAGCACTTTGGGAGGCCAAAGTGGGCAGATTACTTGAGCTCAGAAGTTTGAGACCAGCCTTAGCAACATGGCAAAACCACATCTTTACTAAAAATACAAAAATTAGCTAGGTGTGGTGACTCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCTTGGGAGACAGAGGTTGCAGTGAGCTGAGATTGCACCAGCCGAGATCATGCCACTGCACTTCAGCTTGGGCGACAGAGTGAGACCCTATCTCAATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATAAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATAC
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Task1_train_8488
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The gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Joubert syndrome 9
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AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGT
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AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGCGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGT
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Task1_train_8489
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Chromosome 4 houses a mutation in gene CC2D2A (coiled-coil and C2 domain containing 2A). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; not specified
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AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGTGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGT
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AATAAATAAATAATTGTCTTCTCAATATATAATTAGACTTCCTCTATCATTAATTTCCTTCATACATTTTCTCTCCTAGCAAATTCCAGCAGCCGTCGAGGTCTTCAAGGATGTTCAGTGAAAAGCATGCTGCTTCCCCAAGCACGTACAGCCCAACCCACAATGCTGACTACCCCCTCGGCCAGGTGAGAGATGCTGGACTTCAGCTTTCCACCTTGCCCCTTAAGTTTTTAAGAAATGACTGTAAACTTCATGGATAGTCTGCTCTCTGCTTCATTTTCTTTGGAAACATACTACTTAGTAAATATACTCTATTTTTGCTAAGAATAAAATAATTTGACTAACCATTGGGAACTCAGAATTTGCTCTTGATTTTAAGGTTTTAGTACGTCCCTTTGTAGAAGTCTCTTTTCAACGAACAGTTTGCCATACGACTACGGCTGAAGGACCAAACCCTAGCTGGAATGAAGAACTAGAACTTCCATTTAGGTAAGCATATTTTCCTCTTTAAAGAACTATAGGACATTTTGAAGAAATGTGAAGAAAGCAGGCTCATGAGAAACGGCTAAGGTGAAGGATTTTGTAGCTAGTGAGCGGCAACAAGATCCAGGTGTCCTGACGCCAAGTCCCATGCTTTTCCTCTTGTACCACAGCTGACTCCCTTCAAGAATAAAAATGGAAAAATGTCCAACTTTTAAAACCCCAGATTCATTGTTGGGACATCCTATGCTCCTCCAGGCTCTGGCTTCTTAAAGCCCAAAGTTTTTCATTCCCTTGACCCCAATGACCTACACTGCTTTCCTTTCTTCCTCATGTCCCCTCAAGTAAATCTGAAACTCCTTAGTTCCCATAAATCATACTTTCTTCCTCACCAGAAATAAATAGGCATTTCAGAAGTTTGGTCAAAGGATTTTAGATATTTAAATGGTTCTTATTATTTCAGTACTTGAAGCAACCTTGGAGATTATCTAGTCCAACCTCTACCTTTATGGAGAAGAAACTAAAACCCAAAAAGGGAAGGTGACTTACTTAAAGCCACACAGTAAATTAGAGACAGAGCAAGGATTAGAACTACTTAAGTCAGGCCGAGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGGCCAGGGCACATGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATTACTTGAACCCGGGAGGTGGAAGTTGCAGTGAGTCAAGATCACGCCACTGCACTCCAACCTTAGCGAGAGAGCGAGACTCTGTCTCAAAATAAATACATAAATAAGAACTAGTTAAGTCAGAAGAAGGTAACAGCTACCACTATTATGCACAGAACAGCAAAAAGAACAAGAAAACATAAAGTCAAATGTTCAACAAAATACACCTATTACCCCAGACACCAGCCCTGCCATGCAGAGGCACGGTTGCTCCAGGCTTAGCTAGACTCAGAGTGGGTTATGTTACAGGAGACCTTACCCCTGTATTGCTTTACTTATATACAGAAAAGGTGAGTGTGAGGCAGGGACCATTAGACCAACCAGCCAGTAGGAGGTTTATCACTGGAGAGTGGTTTTGCTGGAGAAGCACCCTTCTGGGGCCCATTTGCTTAGGAAGTCCATATACTAGCTCCAGTGTCAGCTGGAAACCTTGTAGCCTGTCCACTAAGCTAGCTCAGTCCTGGCAAGCTGCCTCCTTGAAAAGCTTACCACAAGGGTGTGGGGGAATATGAGACTCACCAGGACAAGCCAGCAGAGGGTTTGTCTCTGCATAGAGTCTCTAATGTAATGCTCTGTCCATTTGAATATAGGTATTATAGTATCCCTGTACAAGAGAAATCCTAGAAATGAAAGCAATGCTTTTAATTCTAACATCTATGCTCATATTTGGGTATTTTTCAAATGCTGACATTTGAATGCTCATAATTTCTATGTTGCCTATTTTCACAGTCCCTGGTCATGTGCTGTCTTGCAGGGCTCCTAATGGAGATTATAGCACAGCCAGTCTGCAGTCAGTGAAAGATGTTGCGTTCATTAACATTTTTGATGAAGTACTGCATGATGTCTTAGAGGTAAGTTCTCAGTTTTAAGAAAGACACTTGTATTCACTTTCATATCCTCTACCCACTACATAAGTTCCAATCACATTGTTACCAGAAAGGGGTCCCGATCTAGATCCTTTCTTGGATATCACACAAGAAAGAATTCAGAGCGAGTCCACAGTGCAAAGCAAAAGCGAGTTTATTAGGAAAGTAAAGTGGTGAAAGAATAGCTACTCCATAGACAGAATAGGGTGTTCTCGAAAGTAAGAGGAAGAATGCATTTACCCTAGGTACAATGCTTGTTTAGATATAGGATAAAAAAAGATCATGGGAAGATGTGCTCTGCTACAAGAGTTTGTGATAAAGGATTCGTTTTCTAAATTACTGTATTTTGCAAGAATCTATTTATTATATTTAAAGCAAAATTAGGAATGCCTCTGTTCTCAAGATACCGGGATATCAGGACACTCCTAAGTCTGGGTCTGTTTAGTAAATATTATCAGTCTGTTCCCTTAACTGTAAACATCTAGAGGCCAGGAATGCCTAACTTTCTGGGAATGCAGCCCAGCAAGTCCCAGCCTCATGTTTCCTAGCCGTCACTCAAGATGGAGTCGCTTTGGTTCAAACGCCTCTGGTAACATTTTCCATCTTTCTTGTGTTTGAAATATTTGAAACTTGACATGTATCAATGGGGACAGGGGAGAGGGAGAAGGAGCTAGTTTTTTTATTTTCACTTGACTGTCTGCACTGTGCCAGGAATTGTACTAGGTGCTTTACGCACATTGTCTGATTTAATTCTAAATAATCCTATAGATTGTTAAATCTCTAGTTTATTGATGAGAAAACTGAGGTTCAGAGAGGTCAAATGACTTTCCTAGGGCCACAAAGCCATTATGTATCTGTACCAGAATTTGATTAGGTCTATCTAATATAAGTTCATATGCTTTCAGCTAAAATCTTGCTGCTTTCCTGCTGCCAGATTAATTAAATGAGTTTCTGGAGTTCTTAAGCAATTATTACTTCCCACCCTTCCTTTAGGATGACCGTGAAAGAGGAAGTGGAATCCATACTCGTATTGAGAGACACTGGCTGGGATGTGTGAAAATGCCATTTAGCACAATATATTTCCAAGCAAGGGTAAGTATCTAAAGTTAGAGGTCCATGAGAGCAGGGAATTTCTCTATCCATTTTTCCTATTAAAACGTTCTTTGTGGGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCACATCATCTGAGGTCAGGAGTTGGAGATGAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAGATACAAAAAATTAGCCGGGCGTGGTGGTGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCAGGGAGGCTGAGGCAGGAGAACTGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGTGAGAGGGCGAGACTCCATGTCAGAAAAAACAAAAACAAAAACAAACAAAAAAACTTTCTTTGTGCGATACATCCTTAACACTGGAAGAATATATATGCAAAGCCCATAGAAGGCTCAAAAGAAACAAACCTCTAAAGCCATTGATCTTCTGTCACATTTGCATTAAGTATCTATGTTCCTTACAATTAGTAGTTAATGTATGACTGTTCAAATCTGATAATTTTTTAAATATTAAATAAAGGTAAAGAATAAGGTGGGATAAAGTGGAAACTTGTCAAAACAACAAAGGTGGAATGGATAGATGCCTGAAAGTAACTTGAAGAAAACAATCAGGGCAGTTGAAAGCCCATTCAATCAAGTGCTTTCCATTAATATTTCTACAAGTCCTCACTATTTAAAACATGAAAAATGCAGAGACACGCTTAACAAAGACACCCTTCTTCAGAGTTAATGGTTTGATTAAGGGGATCCATTAAGTTGACAACTCTTGAATGACTTAGTAGCTCTAATCTAGGACAGTTAAAGGT
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Task1_train_8490
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A sequence alteration has been identified in CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is it disease-inducing or harmless?
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Pathogenic; Joubert syndrome 9
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGCGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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Task1_train_8491
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A mutation on Chromosome 4 affecting CC2D2A (coiled-coil and C2 domain containing 2A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Meckel-Gruber syndrome
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGCGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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Task1_train_8492
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Given this variant in gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Familial aplasia of the vermis
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGTGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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CCACATCATCAATGTCAGAGAAAACACCATGCCCACTAAAAGTGGTTTTTTAAAAAAATGAATTATCAACATAGTATCAAAATTTCGGGCAAGATTATAGGTCTTACACTTCAAGACACTAACCTCTACTATGACATATTAGAATCCTGCACAACCAATCCAGAATAAAGCATTGAGTCATACAACATAATTTTTTTTTCTTTTTGTCAGCAATTTCTTGATCTCCTGGCAGGGGATGAAGAAGAACATGCAGTACTATTGTGTAATTACTTTCTGTCTCTGGGTAAGAAGGCCTGGCTGTTGATGGGCAATGCTATTCCTGAGGTAAGACCACATAGGCTGCCTTTAACAGAGGAGTATAGTTGTCTAATCGAGTTGTGTGTTCCAGATCACACACAGGACATATTTTCATAACGATCCTTTGGGTTGCTAGGAAAGTGGCCCACAGATGCCGTAACGGGCAGAGAGAACTACCAGTGATAAGACATGAAATGGTTTTCAGTGGTCCTCAGGGCCCCATGCAACACTTCAGATTATTTTTTGGCAAACCCGAACCCTTTACCATCCAAAGCCCCCACCTAGCTCTGTCCTTTTAGTATGGGCCTCTTCCCAGCCATGTTCCCAAGAATTCAGATTCCCTTAATGATGTGGTAGTCTTCATGCTTTGCAATGAAGAGGATCCAAAGGAGTGTGTGTGGTAAGGTTAGAGATCTCTCCTTTCATGCCTACTGCTTCTATAGGTATCTGCTGCTAGCCTGGCATGCAAAGGGGAATAAGCCAGATAAGGAGGAATGAAAAGAACGTTAGCAGCTTTATTTTTATATTAACATTGTTATTTTTATTAGATTGGAGACTATTAGAATTTTTCCCTAGCCCACTACAAATATCCCTACATTTGTGATGCAAATAGGTAAGTTTAGAAAATTCACATACATTAGAGCAGTTTATCCAAAGAGGCCACAAGGCTCTAGGAATCCTTGGAAATTCGATAGCATGAGTTGCTGCAAGGCAGGTAATAAAGTAGTATCATATTCATATTCAAATTCATTCTCCATCATTATCTCCCAGATAGTCTGGTCCCAATAAAAGAACACTGGGCTTGGAAGTTATAAGGCTGAAGTTCAAGGTTCTGTGCCCACTCCTCATTAGCTGTGTGACACTAAGTAGGTCACTCCACAACTCTGGGTTTTATAGAAAAGTGGGATAATTTCTGCCCCGCCTTCCCCAGAAAACTGTTGTGAGCATCAAGTGAAATCATACAGGGGGAATAAATGATAACAATAATAAATAAATAATAATTTAAATAAATAATAAAAAAATTCTCATTGTAAAAATAGAACCTAACAATACGTAAGTATTCTGTGTAAAAAGTAGAAGTCCCTTGTCAGAAGATCCAGAATACCTTGACAAGGGACTTCTACTTCCCCAACCCCCAATTCCACTCCCCTCCCCAGGTACAGTCATTCTTAACTGTTTGGTACATATCCTTCCAAATCTACTATGCATTTACATAGTTACAAATGTTTATCAAATATAAATTACTATATTAGAAATAGAAATATTTCTATTCAAACATAATCAGCCTTCTATAGACTTAAATGGCAGTCTTACTGACTCTAAGAAGAAAACGCCAGTGACTGCTTATTTCCACTAATAATAGTTCTTCAGCCAATCTTAAGATATACTGGTTGAGTAAGATGATGACTGTCCTTTTTTGGTCATTGTACTAGTATCAGATGCAAGAATTTTGCAAAACTAAGCATTCGACTTTACTTTTTAAATTCAGCATAACCTAGAACTTCAAAGTAGTTTTCACCATTAACCATGAAATTTCAGAAATTAAGGGTCCAAGTAAAATAATGAATTGTCTGTGCAAACTACTATTGGCCTTCACTGCATAAATAGTTGAAAACTAGTTTTAATGGCCATCTTCTTTCAGGGTCCAACTGCCTATGTGCTAACTTGGGAGCAAGGTCGTTATTTAATATGGAATCCCTGCAGTGGACATTTTTATGGACAATTTGATACATTCTGTCCCTTGAAAAATGCGGGCTGTTTAATAGGTCCTGACAATGTAAGTATTAACATTTCTTCTTAAATATGGTTAGCTGTCGTTTCTTTTAAATAACTGACCTATTGATTTAAATATTTTATGTAACCAAAATATTTATATAAATGAATATATATATATATACACACATATATATATACCAGTTAAAAGAAATGCAGTGTCAAGCACAGTGGCGGAACTGTGCTAAATACAACTTTTGGTTCAATTAGTCACCTGACCTGCCCGAGAAGCAGAATGACAAAGCAGAATAACAAAGGAATACAGGATTTAGATTCAGAGGACCTGAGTTTGTGTCCTGGGTCTGTCCTTAGTTTTCTCATCCAAAATAGAGTTTACAATTTCTAATTCGTAGTGTTTTAAGAACTGAGGCAAATTTGTCACCTGAACAGATTGGGTTTCTCTGTCTCTTTCTCTCTTTCTTTTTTCAAAGGAGATTCCCAGGTCTCACCTGGCCTGCAATATCCCCAGGTAATTCTAGTTGCGCCAGTTTTGAGGGCTGCATGATTTTATTGTGAAGGGTACTAAATAAAGTAGTGGTTAAAAATATAAGTTATAGAGCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGATGGTGTGACTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAACGAGCTGAGATGGAGCCACTGCATTCCATCCTGGGCAACAGAGCAAGACTCCATCTCAAAGAAAAATGAGTTATGCGATCAGACTGCCTCAGTTTAAACTCCAATTTTATCATTTACTAGTTGTGTGGGCTTGGGAAAGTCAATCTCTCACAGCTTCAGCTTCTTCGCTGGTAAAATGGAGGTAACAGTAAAGTCACTACTTTATAGAATAGTTGTGAGAAGTGAATGAGATTATTAATGTTAAGCACCTAACAGAGTAACAACTCTTTAATTATTTTTTTAATTATTATTTTTCTTTTGAGATAGTTTCGCTCTGTCGCCTAGGCTGGAGTCCAGTGGTGCCATCTCAGCTCACTGCAATCTCCACATCCTGCGTTCATGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATCACAGGCACGTGCCACCTTGCCTGGCTAATTTAGTAAGAGATGAGGTCTCACCATATTGACTAGGCTCATCTCCAACTCCTGGCCTCAAGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGCGAGCCACCACACCCAGCAAATTATTGAATGATTGTTTTTATGTGCTTCTGTCTATAAAAACTGTTTGCACATGCATCCCCAACATGCATATTTTTATGAATTATATATATTTTCGTATCAATATACCAAAAACTACTTTAAACATGAAATCTATTTTTTTTCTTCCCATCCTCCTGGGGTATGGACCCTTCTCTGAAGACCATCAGTCTATTTTTTTTTTTTTTTTTGAGACGGACTTTCACTCTTGTTGCCCAGGCTGGAGTGCAACGGAGCGATCTCGGCTCAACGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGATTACAGGCATGCACCACCACACCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAGCTCCCGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCCATCAACCTATTTTTTTTAAGCATTACTGCTAAAATTAGAGATAATATATGCCAAGCACGCAGCAAAATATCTGTCCTTCATGTGTTCAGCAAATAGCAACTACAGCACTATTAATTACATATGTAAAGAGCACTGTGGAACACCATTCTCATGTTAATTATTATTTTTAATAAAAGTCATT
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Task1_train_8493
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This variant affects the gene CC2D2A (coiled-coil and C2 domain containing 2A) found on Chromosome 4. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Joubert syndrome 9
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AATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTGCTGTGGATGCAGAGATGAATGGACACTCAATTCAATTAGGAGGCTGGGAAGAGAAAGGTCAGGAAAGACTAGCCTAAGAAAGAAGTGGCCTTGGTTTTTATAACAAAAAACAACCTCACTTTTTATCAAATCTACAGTCAACACTAAGGTACACCCCCAACTTCAGATAAAAAATGTGAAAAAATGGCCAATGACAACTCTATGATGCCACTGATTGTAAAATACACACAATTTTTATAATCAAAAAATGACAAAATGTATGCGGCCTATATGAACACTTGCTGTCTCTCTGCTGCCTCTATGCCACACATACATCCATGCACACATACATGTGCATGTATACATGCTAACATATATGCTAATGTAGTCTTGTCTTTCTTAGATTTGGTTTAATATTCAACGATATGAATCTCCACTAAGGATAAATTTTGATGTCACCAGGCCCAAGCTATGGAAATCTTTCTTTTCAAGAAGCCTTCCATATCCTGGCCTTTCCAGTGTTCAGGTATAAATCTTTTATTAACAGTTAAATGTAGACAAAGTAAAAGATAGGAAATTATACTGGGTTACAAGATATTTTTTACCCCTGGGTAGTCTAGAACAGTATTTGTTTATCAAACGCATCTGAGCTCAACTCACAACAAGAAACAGATATATACGTTTACATATATGTGAAAGGACCAGTATACACATCTTACACACATGTGGAAGAAAAAGTTTTGATATAAAGTTTCATGACATAAAAAGTACCACAAAATGTATTCCATCTAAATTTTTTAAATGCTCATCTCAATTCACTAAATAGATTTCATAACTTTTAATGAAACATCAAGTTAAATTGCAGGGTATGATCCACTAGGGGCTCATAAAATTAACTTACAGGGTCCTGACCAGTAGTAGATTGTAAGTAGTAAGCATAAGCAGTTTACTAAAAGTTTTGTTTCATTTGATAGATATATGTATGTGTGTACTAGGTTTGTAATGAAATGTATTTTATACTCCGGATCTACCTTTCAGAAAAAGCTTTGAAGAACATTACCCTAGAGAAATTCTCCCATATGTGTATAAGGTGATATATACAAGATTTTTAGTAGGAGCATTGCTTGAAATAGCATAAGAGTTGGAATGACAGAAGAGAAAAATTATGTAACACGATGGAATATTTTACAGTAGTTAATCAGCATTAATGAATCTTAGTAAGCCCTCTAAAAATATGTTTGTTGCTGCCACTAAATATAAAGTTAAGGGAGAAAGCACAAGTTGCATGTTCATAAAACAATTACGTAAAGTTTAGAAAACATGTGAAACAATAAAATGTTGTTTAGGGGTACATGTATCTGTAATAAAATCATAAACACATTGTGTTAATGAAGACAGGAATTTTTTTTCATAGCCAAATCCCTATCCCTCTCACCTATGAAAGTGCCTAGCACACAGCAGGCAATCAGTACTTGTTGAATGAAGGGGTGTTAAAACAAATTCAGGTCATGGTTACTTCTGTGGTAAGAGAGAAGAAAAATGAAATTGGGAAAGAACTATATTATGATGTTTTACTTTTGGTGGGTCATGGGTACATCAGCATGCATTATATTATTTTCTATATCTCGATGTCTGAGATTTCATTGATTTTTAAGATTTTTAAAAGGATGTTCAAATTAACTGTAGGTGATTTTTATACTTTCTGAACTATTTTCTCTTCTATAGCCTGAAGAGCTAATTTACCAGCGCTCAGACAAAGCAGCTGCAGCTGAGCTACAAGACAGGTAACATAACATCCATAAATCCACATGTAATCTGTCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCTAACACATGGAGAAGATCAGTAAGAGCCTGTATGAGTCTCTGTAATTCTCATAACCCTGTAAAAATAGAACTTATTCTCCTGGTTTCACAATGTGAAAACTGAGGCTCAGAGAGGTCCACATACTTGTTTAAGTGTTAAAGGGGGCTTCTGAGCCCAGCCCAACCTTTCTGATTTCAAGACATGTGTACTATTTCTACTGTATTAAGCTGTGTGACCCCTCTTGAGGCATTATTACTAGAAAATATCGGTTTACACTCATTTACTCTCAATTTCTCCATAATGCCTTATTCAAGATCCCCAACTAGAACAACTAATCTCCAAACAACCTTTTTGTTTTTTTCTGATAGCTTCAACATGCTATCGATTGGACCCAAGTCATTTATTTCTCCAATATTAAAATGCCTGACAATTCGTCCATACTTTCGTGCGCAGACCATCTTGAAATCCAAAACAAAGATGTGCTAAGCACCAAAAAAGAAATGATCCCTATGACTACTGAACAATGAGAAGCTAGCTAGGTCTCTAAACCCATGCATTTAGTTAGGCAATGTACAAGAGGCTTTAGAATCAGCAGGGTTTCAATTTGAATCCAAGCTCCTTTGCCTTAGTCAAATCACTTATCCTACCTCAAACTGTCCCCTCATCTGTAAAATCAGGACAATATCCCCTACCTCGTAAGGTTATTATTGAGATTAAATAAACATCTACAAAAAGCACTTAGCGCAGTATCTGGTAAATAATGGCCCAATAAATAGTAGCTATCTTCCTTCATTCCATGCTTAAACTTCACACCCTATGAACCCAATACCTGTACTTATCACAAACAGTTTCAATGATGTTGGTATTTTAAAGGCAGTTTTAAGGCAATTTAGAAAAAAATTAATCATCATGGATAGAATTCACTATTCATGATGTGAATAAATCACGAGGCACTAAGAGCTCCACAAATATTTGAGGCTTTCAACATAAGCCCTACTTCTTACGCCTGTGTCTAATTCATCTGTCTGTATATATACTACCAATGAGTATAGTCATAACATTTCAAAAAAACATTTCATGGCCAAGCGCAGTGACTCACACTTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTTGTCTCTATAAAAAAGAAAAAAAAATTAGCCAGACATAATGGCATGCACCTGTGGTCCCAGCTACCAAAGAGGCTGAGGTGGGAGGTTCACTTGAGCCCGAGAGTTGAGGATGCAGTGAGCTGTGATTGTACCACTTCAATCCAGCCTGGGCAACAGAGCAAGATCCTGCCTTTAAAAAAAATTAGTAATAATAAACTTTTGCTGCATGTATTGAATTCAGCTATCCCCAAGTCATTCAGTACTCCCTCTTCTGTGTTACATTTCAAGCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATG
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AATAATTTTAAAATAGCTAACAATTATTGAGCACTTACTACATACCAGGCATTTTTCTAAGAGGTACAGATTAATTAACTCACTGAATCAACTCAACCTTGAGGTAGATACTATTTATTATCCCACTGTTAAACAGAAGGAAACCGAGGCATACAGAAGTTACATTAATCATCCAAGGTCACACAAATAGTAAATGTTGGAGCCAAAATTAAAACACAAGTGGTCTGGTTCCAGAACCAACATGCTACGCTGCCTCACCAACACAAGGGCTATCTCAGAGAATGCGCATTGCTGTGGATGCAGAGATGAATGGACACTCAATTCAATTAGGAGGCTGGGAAGAGAAAGGTCAGGAAAGACTAGCCTAAGAAAGAAGTGGCCTTGGTTTTTATAACAAAAAACAACCTCACTTTTTATCAAATCTACAGTCAACACTAAGGTACACCCCCAACTTCAGATAAAAAATGTGAAAAAATGGCCAATGACAACTCTATGATGCCACTGATTGTAAAATACACACAATTTTTATAATCAAAAAATGACAAAATGTATGCGGCCTATATGAACACTTGCTGTCTCTCTGCTGCCTCTATGCCACACATACATCCATGCACACATACATGTGCATGTATACATGCTAACATATATGCTAATGTAGTCTTGTCTTTCTTAGATTTGGTTTAATATTCAACGATATGAATCTCCACTAAGGATAAATTTTGATGTCACCAGGCCCAAGCTATGGAAATCTTTCTTTTCAAGAAGCCTTCCATATCCTGGCCTTTCCAGTGTTCAGGTATAAATCTTTTATTAACAGTTAAATGTAGACAAAGTAAAAGATAGGAAATTATACTGGGTTACAAGATATTTTTTACCCCTGGGTAGTCTAGAACAGTATTTGTTTATCAAACGCATCTGAGCTCAACTCACAACAAGAAACAGATATATACGTTTACATATATGTGAAAGGACCAGTATACACATCTTACACACATGTGGAAGAAAAAGTTTTGATATAAAGTTTCATGACATAAAAAGTACCACAAAATGTATTCCATCTAAATTTTTTAAATGCTCATCTCAATTCACTAAATAGATTTCATAACTTTTAATGAAACATCAAGTTAAATTGCAGGGTATGATCCACTAGGGGCTCATAAAATTAACTTACAGGGTCCTGACCAGTAGTAGATTGTAAGTAGTAAGCATAAGCAGTTTACTAAAAGTTTTGTTTCATTTGATAGATATATGTATGTGTGTACTAGGTTTGTAATGAAATGTATTTTATACTCCGGATCTACCTTTCAGAAAAAGCTTTGAAGAACATTACCCTAGAGAAATTCTCCCATATGTGTATAAGGTGATATATACAAGATTTTTAGTAGGAGCATTGCTTGAAATAGCATAAGAGTTGGAATGACAGAAGAGAAAAATTATGTAACACGATGGAATATTTTACAGTAGTTAATCAGCATTAATGAATCTTAGTAAGCCCTCTAAAAATATGTTTGTTGCTGCCACTAAATATAAAGTTAAGGGAGAAAGCACAAGTTGCATGTTCATAAAACAATTACGTAAAGTTTAGAAAACATGTGAAACAATAAAATGTTGTTTAGGGGTACATGTATCTGTAATAAAATCATAAACACATTGTGTTAATGAAGACAGGAATTTTTTTTCATAGCCAAATCCCTATCCCTCTCACCTATGAAAGTGCCTAGCACACAGCAGGCAATCAGTACTTGTTGAATGAAGGGGTGTTAAAACAAATTCAGGTCATGGTTACTTCTGTGGTAAGAGAGAAGAAAAATGAAATTGGGAAAGAACTATATTATGATGTTTTACTTTTGGTGGGTCATGGGTACATCAGCATGCATTATATTATTTTCTATATCTCGATGTCTGAGATTTCATTGATTTTTAAGATTTTTAAAAGGATGTTCAAATTAACTGTAGGTGATTTTTATACTTTCTGAACTATTTTCTCTTCTATAGCCTGAAGAGCTAATTTACCAGCGCTCAGACAAAGCAGCTGCAGCTGAGCTACACGACAGGTAACATAACATCCATAAATCCACATGTAATCTGTCACTAGGAGTATAATACCAAACTTTAAACCACTGTCAGCCTGGATGAATGTGAAACAATTTAGGCAACTTAACTTTAATTCATGTTTATAGATTCCAAATACAGATGTGATCTCTAAATCCCATGGCTCAAAAGGAGCCTTTAGCATCAGCATGCTGTGGAACCAACCAGAGTGGAACACCAGTAATACGTACTTCTACAGGGACTTCACCTTGGATTGGAGTTTAACATCATGTTATAGGTGTTGTTGAGGCACATCATAAATCTCAGCTTAAATATACCTCTTCTGTCCTATTGAACTGCAGCTAGTTTATGGACCTAACACATGGAGAAGATCAGTAAGAGCCTGTATGAGTCTCTGTAATTCTCATAACCCTGTAAAAATAGAACTTATTCTCCTGGTTTCACAATGTGAAAACTGAGGCTCAGAGAGGTCCACATACTTGTTTAAGTGTTAAAGGGGGCTTCTGAGCCCAGCCCAACCTTTCTGATTTCAAGACATGTGTACTATTTCTACTGTATTAAGCTGTGTGACCCCTCTTGAGGCATTATTACTAGAAAATATCGGTTTACACTCATTTACTCTCAATTTCTCCATAATGCCTTATTCAAGATCCCCAACTAGAACAACTAATCTCCAAACAACCTTTTTGTTTTTTTCTGATAGCTTCAACATGCTATCGATTGGACCCAAGTCATTTATTTCTCCAATATTAAAATGCCTGACAATTCGTCCATACTTTCGTGCGCAGACCATCTTGAAATCCAAAACAAAGATGTGCTAAGCACCAAAAAAGAAATGATCCCTATGACTACTGAACAATGAGAAGCTAGCTAGGTCTCTAAACCCATGCATTTAGTTAGGCAATGTACAAGAGGCTTTAGAATCAGCAGGGTTTCAATTTGAATCCAAGCTCCTTTGCCTTAGTCAAATCACTTATCCTACCTCAAACTGTCCCCTCATCTGTAAAATCAGGACAATATCCCCTACCTCGTAAGGTTATTATTGAGATTAAATAAACATCTACAAAAAGCACTTAGCGCAGTATCTGGTAAATAATGGCCCAATAAATAGTAGCTATCTTCCTTCATTCCATGCTTAAACTTCACACCCTATGAACCCAATACCTGTACTTATCACAAACAGTTTCAATGATGTTGGTATTTTAAAGGCAGTTTTAAGGCAATTTAGAAAAAAATTAATCATCATGGATAGAATTCACTATTCATGATGTGAATAAATCACGAGGCACTAAGAGCTCCACAAATATTTGAGGCTTTCAACATAAGCCCTACTTCTTACGCCTGTGTCTAATTCATCTGTCTGTATATATACTACCAATGAGTATAGTCATAACATTTCAAAAAAACATTTCATGGCCAAGCGCAGTGACTCACACTTGTAATCTCAACACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTTGTCTCTATAAAAAAGAAAAAAAAATTAGCCAGACATAATGGCATGCACCTGTGGTCCCAGCTACCAAAGAGGCTGAGGTGGGAGGTTCACTTGAGCCCGAGAGTTGAGGATGCAGTGAGCTGTGATTGTACCACTTCAATCCAGCCTGGGCAACAGAGCAAGATCCTGCCTTTAAAAAAAATTAGTAATAATAAACTTTTGCTGCATGTATTGAATTCAGCTATCCCCAAGTCATTCAGTACTCCCTCTTCTGTGTTACATTTCAAGCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATG
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Task1_train_8494
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This variant impacts the gene CC2D2A (coiled-coil and C2 domain containing 2A) on Chromosome 4. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Joubert syndrome 9
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GCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATGGAATTTATGTTTTGTGAACAGGATTGAAAAAATACTAAAAGAAAAAATCATGGACTGGAGGCCACGCCATCTGACTCGGTGGAATAGGTATTGTACCTCTACTCTGCGTCACTTCTTGCCTCTGTTAGAAAAAAGTCAAGGAGAAGATGTAGAAGATGACCACAGAGCAGAACTGCTAAAACAGCTGGGAGACTACAGGGTAAGTTACAAATGGATCCTAAACTGACTGTGGATTTCCTTGTTTCAAATTGGAAATTAGCCAATAATAGGTTTCTGGAATCAAAAGACCCACGTTGCTCCCAGAAGTACATATTTAAAGCAGCATAAACTAAAAACTGTGATCATAAGTTTTAAACCTCAATAATCATGAAATAGCAAAATACCACCATTTTTCATATAAGTATCCCATGAAAAATACCTTTTATGAAATACATTTACGTATCAAAAAAATGAAAACATCTGGCTAAATCATGTTAGACACAACTGTGCATAAGGATCAAAACACTCTAGAGCAGTTTTTTTAAGGATATGGTTTTATACTGATTGCTTTTCATTGCTAAGAAAGGTGGTTATTAATAGACGATATACCCTCTTTACTGCCTGCTGCTATGTTCACATGCTATAGCTGGATAATAAAACCTACAAAGCAGGCTCGTAACTAAAACTTAACAGTAAGCCTTACTAGCTAAACAGTGTGAAGGTCAAATTAGATCACTCACTGAGTAAAATTTATCCTTTAACTTATAAGGCAGGTTCTCAGCCAGGATATTTTCAGTTCAAGTGTCAGAAAACTCAAAAAGGCTTGAGCAATAGAGAATCTACTGGCTTAAGTAAAGCTTAGAGGGTAGCTATCAGGGCTGTCCCACTCTTTTGCAAGTCCTCCCATTCTGCCCTCCTCTTCCGTATGATGGCATCATCCTGAGACTGGGTTTCCTCATGGAAGCAAATGCTGGAACACTTACAGAATTCACATCTGCGCACATACTACCCAAAGCAGGAGAACATCACGTGCCATTATTCCTAACAAGTTTCCCAAGATTCCCTCTGAGACTCCCTTTGATCACTTGCCCATCCCCGTGGATCAATCATTGTAGCCAAGGGGACGAAAATTATTGTCGGGCGCTATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGCGGATCGCTTGAGCCCTGGAGTTCAAGATCAGCCTTGGCAGCATGGCAAAACTCCATCTCTACAAAAAATACAAAAAGTAGCCAGGATGGTGGCACTTGCCTGCAGTCCCAGCTACTCAGGAGGCTAAAGTGGGGGGACCATTTGAGCCCAGCAGGAGGCCGAGGCTGCAGTGGTGAGCCATGATCATGCCACTGCAGTCTAGCATGGACAACAGTCAGACCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAATGTATTTGTTAGTTTAACCTATGTATCTGGAATTACAATGGTTACGATGCATACTAGGTACTTTCAAAAAGAGGGAACAGTGATGGAGTGACTAACAGGTGGCTTATACACCTATATGCAAGGAAAACAAAATGGATATTAAGCAGCTCTCGATTTTCTGTATTGCTAATAAAAAGCTGAGTAGAAAAACACAAGCAAATAACTGAGATCCAGAACACTTATCTTAATTGCATACATTTACGTAGGAAAAAATGTATTAAATCTTCAAACTTCACTAATGACTACAAATGTTTTTTCCCTTCAGTTCTCTGGATTTCCTCTTCACATGCCTTATTCTGAAGTGAAGCCTTTAATTGACGCTGTGTATAGTACTGGAGTACATAATATTGATGTTCCTAATGTTGAATTTGCTTTAGCTGTATACATACACCCATACCCCAAAAATGTTTTGTCTGTTTGGATCTATGTTGCCTCTCTTATACGCAACAGGTAATTTTTTTCACTGTACTTTCTGTATCATGTAAAAACTACACTTAGGATATGAGAAAATTTTAAATTATATGCATCACATCAGAAGAACATATTATTGGCAAATAATAAAATTATCAACTGTTTTCAAACTGTGCAAAGTGTTCTATTTAGCAGTCTGCCTTGTGTCTGCTACTTGACCCTGAAATTCAATTGAGACTACCCACAGTACGATATATTATGAGCTTCCTGCCTCTATTCCTTTGTACTTACTTACCTTTTGCTTGGGCAAATATTAACAGCAATGGAATGAAAGTGAGAGAAACTTAACAAGTTTTACCTTAGAGCAAGGTAAAGCTTTAAAGAGAGCATCATTAGAGCCTTTAGAGTTCCTCCTCCTTTGCTGTGTTTAATTCAAATATTAGTTGAAATAAAAAGCAGTAGTGAGTTATATTCCATCAAATGATTCTTCATCTTTAGAAAACACTAAGACAATTTGCCTGAACTGAATGTTTACCAGTTTTTATTGCTACTCCTCCTCCTCTCTCCAAATAAACAAAACAAATAAATATCCAAGACTGCAAGATTACTTCATCTTCCACAGGTTTGCATGTACAGGCATACCTCGGAGATAGTGTGCACTTGGTTCCAGACCATTGCAATAAAGTGAATACTGCAATAAAATGAGTCACACCAATTTTTTTGGTTTCCCAGTGCAAAGTTATGTTTACACTGTATTATAGTGTATTAAGCGTGCAAAAGCATTATCTCAAAAATGTACATACCTTTAATTTAAAAATACTTTATTGTTCAAAAGTGCTAATGATCATCTGAGCCTGCAGTAAGTTGTAATTTTTTGCTGATGGAGGGTCTTGCCTCGATGTTGCTGGCTGATTAGCAACTGGTGGTTGCTGATGGTTGGGGTGGCTGTGAGAATTTCTTAAAATAAGACAACAATGAAGTTTGTTGCATTGACTGACTCTTCCTTTCATGAAAGATTTCTCTGTAGCATGAAATGCTGATAGCATCTTACCCACAGAATCTCTTTCAAAACTGGAATTAATCTTCTCAAACTCTGCCACTGCTTTATCAATTAAGTTTATGTAATATTCTAAATCCTTTGTTGTCATTTGACAAATGTTCACAGCATCTTCGCCAGGAGTAGAGTCCATCTCAATAAACTTTTTTGAGACAGGGTCTTGCTCTGTCGTCCAGGCGGAGTGCAGTGGTGTGATTATGGTTCACTGCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCACACCTCAGTCTCTCAAGTAGCTGGGACTACAGGTACACGCCACCACACTCAGCTAATCTTTTATTTTTTGTAGAGACAGGGTCTCACTATGTTGTCTAGGCTGGTCTTGAGCTCCTGGACACAAGCAATCTTCCTGCCTCCGCCTCCCAAAGTGCCGGGATTACAAGAGTGAGCCACCGCGCCCGACCAAGAAACAAATATTCTTTGCTCATCCATAAGAAGCAACTCTATATCCATTCAAGTTTTATCATGAGGTTGCAGCAGTTCAGTCAGATCTTCAGGCTCTATTTCTAATTCTGGTTCTATTTTCACCACATCTGCAGTGACTTCCTCCACTAAAGTCTGGAACCCTACAAAGACATCCATTGAGAGTTGGAATCAACTTCATCCAATCTCTTGTTAATGCTGATATTCTGACCTCCTCCAATGAATCACGAATATTCTTAATGGCACCTGGAATGGTGAATCCTTCTAATTGAATCCTTTCCAGAATATTTTCAATTTACTTTGCCCTGATCCATCAGAGGAATCACTATCTATGGCAACTATAGCCATACAAAATGTATTTCTTAATAAGACTTGAAAGTCAGAATTATTCCTTGATCCATGGAGTAATTCTGCATGGAGCTGCAGAATAGATGTTAACAGGCATAAAAACATTAATCTCCTT
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GCATCTGTTATAGCTCTTAGGATACACATACTTTCTATTTATAGGACTATTTCCCATCTCAACTCATATACAACCCTTAAGGACAGGACTGCATGTTAATTTTGAATCCCCAGGGAGTAGCCCATTATTAGACATTAACTATGCCTGGATAATCACAACTCCATCAACAAAAATATAGTTATACAATCATCTGAATCCCCACTACATACTACATACATTTTTTAACAAGGGAAAAGTGAGTCACCAAAAAATGGAATTTATGTTTTGTGAACAGGATTGAAAAAATACTAAAAGAAAAAATCATGGACTGGAGGCCACGCCATCTGACTCGGTGGAATAGGTATTGTACCTCTACTCTGCGTCACTTCTTGCCTCTGTTAGAAAAAAGTCAAGGAGAAGATGTAGAAGATGACCACAGAGCAGAACTGCTAAAACAGCTGGGAGACTACAGGGTAAGTTACAAATGGATCCTAAACTGACTGTGGATTTCCTTGTTTCAAATTGGAAATTAGCCAATAATAGGTTTCTGGAATCAAAAGACCCACGTTGCTCCCAGAAGTACATATTTAAAGCAGCATAAACTAAAAACTGTGATCATAAGTTTTAAACCTCAATAATCATGAAATAGCAAAATACCACCATTTTTCATATAAGTATCCCATGAAAAATACCTTTTATGAAATACATTTACGTATCAAAAAAATGAAAACATCTGGCTAAATCATGTTAGACACAACTGTGCATAAGGATCAAAACACTCTAGAGCAGTTTTTTTAAGGATATGGTTTTATACTGATTGCTTTTCATTGCTAAGAAAGGTGGTTATTAATAGACGATATACCCTCTTTACTGCCTGCTGCTATGTTCACATGCTATAGCTGGATAATAAAACCTACAAAGCAGGCTCGTAACTAAAACTTAACAGTAAGCCTTACTAGCTAAACAGTGTGAAGGTCAAATTAGATCACTCACTGAGTAAAATTTATCCTTTAACTTATAAGGCAGGTTCTCAGCCAGGATATTTTCAGTTCAAGTGTCAGAAAACTCAAAAAGGCTTGAGCAATAGAGAATCTACTGGCTTAAGTAAAGCTTAGAGGGTAGCTATCAGGGCTGTCCCACTCTTTTGCAAGTCCTCCCATTCTGCCCTCCTCTTCCGTATGATGGCATCATCCTGAGACTGGGTTTCCTCATGGAAGCAAATGCTGGAACACTTACAGAATTCACATCTGCGCACATACTACCCAAAGCAGGAGAACATCACGTGCCATTATTCCTAACAAGTTTCCCAAGATTCCCTCTGAGACTCCCTTTGATCACTTGCCCATCCCCGTGGATCAATCATTGTAGCCAAGGGGACGAAAATTATTGTCGGGCGCTATGGCTCACACCTGTAACCCCAGCACTTTGGGAGGCTGAGGCAGCGGATCGCTTGAGCCCTGGAGTTCAAGATCAGCCTTGGCAGCATGGCAAAACTCCATCTCTACAAAAAATACAAAAAGTAGCCAGGATGGTGGCACTTGCCTGCAGTCCCAGCTACTCAGGAGGCTAAAGTGGGGGGACCATTTGAGCCCAGCAGGAGGCCGAGGCTGCAGTGGTGAGCCATGATCATGCCACTGCAGTCTAGCATGGACAACAGTCAGACCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAGAAATGTATTTGTTAGTTTAACCTATGTATCTGGAATTACAATGGTTACGATGCATACTAGGTACTTTCAAAAAGAGGGAACAGTGATGGAGTGACTAACAGGTGGCTTATACACCTATATGCAAGGAAAACAAAATGGATATTAAGCAGCTCTCGATTTTCTGTATTGCTAATAAAAAGCTGAGTAGAAAAACACAAGCAAATAACTGAGATCCAGAACACTTATCTTAATTGCATACATTTACGTAGGAAAAAATGTATTAAATCTTCAAACTTCACTAATGACTACAAATGTTTTTTCCCTTCAGTTCTCTGGATTTCCTCTTCACATGCCTTATTCTGAAGTGAAGCCTTTAATTGACGCTGTGTATAGTGCTGGAGTACATAATATTGATGTTCCTAATGTTGAATTTGCTTTAGCTGTATACATACACCCATACCCCAAAAATGTTTTGTCTGTTTGGATCTATGTTGCCTCTCTTATACGCAACAGGTAATTTTTTTCACTGTACTTTCTGTATCATGTAAAAACTACACTTAGGATATGAGAAAATTTTAAATTATATGCATCACATCAGAAGAACATATTATTGGCAAATAATAAAATTATCAACTGTTTTCAAACTGTGCAAAGTGTTCTATTTAGCAGTCTGCCTTGTGTCTGCTACTTGACCCTGAAATTCAATTGAGACTACCCACAGTACGATATATTATGAGCTTCCTGCCTCTATTCCTTTGTACTTACTTACCTTTTGCTTGGGCAAATATTAACAGCAATGGAATGAAAGTGAGAGAAACTTAACAAGTTTTACCTTAGAGCAAGGTAAAGCTTTAAAGAGAGCATCATTAGAGCCTTTAGAGTTCCTCCTCCTTTGCTGTGTTTAATTCAAATATTAGTTGAAATAAAAAGCAGTAGTGAGTTATATTCCATCAAATGATTCTTCATCTTTAGAAAACACTAAGACAATTTGCCTGAACTGAATGTTTACCAGTTTTTATTGCTACTCCTCCTCCTCTCTCCAAATAAACAAAACAAATAAATATCCAAGACTGCAAGATTACTTCATCTTCCACAGGTTTGCATGTACAGGCATACCTCGGAGATAGTGTGCACTTGGTTCCAGACCATTGCAATAAAGTGAATACTGCAATAAAATGAGTCACACCAATTTTTTTGGTTTCCCAGTGCAAAGTTATGTTTACACTGTATTATAGTGTATTAAGCGTGCAAAAGCATTATCTCAAAAATGTACATACCTTTAATTTAAAAATACTTTATTGTTCAAAAGTGCTAATGATCATCTGAGCCTGCAGTAAGTTGTAATTTTTTGCTGATGGAGGGTCTTGCCTCGATGTTGCTGGCTGATTAGCAACTGGTGGTTGCTGATGGTTGGGGTGGCTGTGAGAATTTCTTAAAATAAGACAACAATGAAGTTTGTTGCATTGACTGACTCTTCCTTTCATGAAAGATTTCTCTGTAGCATGAAATGCTGATAGCATCTTACCCACAGAATCTCTTTCAAAACTGGAATTAATCTTCTCAAACTCTGCCACTGCTTTATCAATTAAGTTTATGTAATATTCTAAATCCTTTGTTGTCATTTGACAAATGTTCACAGCATCTTCGCCAGGAGTAGAGTCCATCTCAATAAACTTTTTTGAGACAGGGTCTTGCTCTGTCGTCCAGGCGGAGTGCAGTGGTGTGATTATGGTTCACTGCAGCCTCAACCTCCTAGGCTCAAGCAATCCTCACACCTCAGTCTCTCAAGTAGCTGGGACTACAGGTACACGCCACCACACTCAGCTAATCTTTTATTTTTTGTAGAGACAGGGTCTCACTATGTTGTCTAGGCTGGTCTTGAGCTCCTGGACACAAGCAATCTTCCTGCCTCCGCCTCCCAAAGTGCCGGGATTACAAGAGTGAGCCACCGCGCCCGACCAAGAAACAAATATTCTTTGCTCATCCATAAGAAGCAACTCTATATCCATTCAAGTTTTATCATGAGGTTGCAGCAGTTCAGTCAGATCTTCAGGCTCTATTTCTAATTCTGGTTCTATTTTCACCACATCTGCAGTGACTTCCTCCACTAAAGTCTGGAACCCTACAAAGACATCCATTGAGAGTTGGAATCAACTTCATCCAATCTCTTGTTAATGCTGATATTCTGACCTCCTCCAATGAATCACGAATATTCTTAATGGCACCTGGAATGGTGAATCCTTCTAATTGAATCCTTTCCAGAATATTTTCAATTTACTTTGCCCTGATCCATCAGAGGAATCACTATCTATGGCAACTATAGCCATACAAAATGTATTTCTTAATAAGACTTGAAAGTCAGAATTATTCCTTGATCCATGGAGTAATTCTGCATGGAGCTGCAGAATAGATGTTAACAGGCATAAAAACATTAATCTCCTT
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Task1_train_8495
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Consider this mutation in PROM1 (prominin 1) on Chromosome 4. Is this a benign change or a disease-causing variant?
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Pathogenic; Retinal dystrophy
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCGTTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCATTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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Task1_train_8496
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A genomic change on Chromosome 4 affects PROM1 (prominin 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Retinal macular dystrophy type 2
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCGTTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCATTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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Task1_train_8497
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This genomic variant is located on Chromosome 4, within the PROM1 (prominin 1) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Cone-rod dystrophy 12
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCGTTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCATTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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Task1_train_8498
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Gene PROM1 (prominin 1) on Chromosome 4 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Retinal macular dystrophy type 2
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCGTTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCATTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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Task1_train_8499
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The gene PROM1 (prominin 1) is located on Chromosome 4, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Cone-rod dystrophy 12
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCGTTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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TGACACAAACCTGGTCATGGTGCCAGAGTGTGACAACAAGTCTGTGTACACATGGCTGGCTAAAGGACAAGCAGAACTCATGGCTTATGCATCTCACAGCCCAGTGCCTGGCAGAGCCTGGCACAGAGTTGGCACTAAATAATTTGTTCAGGTTGGGATGAGACAACCTAAACACGAGAGCAAAGGACATGAAACTGAACACCTGCTATCCAGGCTGACAGAGCGGCACTGGCCCGGCTCTAGGAAGACACTGGCTTGTGCTCAGGCAATGGCACCATGCACCATGGGCCGCACTCAATGCACGCAGCACAATTTGCTGTGTCAGACTTACAAGGAAGGGCTGCATGTATGGGCAGGAGAGGTCCAGAGAGGGGAAACCAAAAAATTAAACACAGAGATTAGTGAGCAGGTGGCTGTCAGACATACAGCATGCATCAGCCTTCAGAGGTTAGCACATCAAAGTCTGAACCCTGTCCTTAATATCTTAATATTTTCAAGTAGAATCTTATATTATGCAAAAGGAAACCCACAAAACATCTAAAGTGTCATGTAGCAAGATAAAACACTTTTCTACTCAAACTCTTCATGGGTCAAAAGAACACTATTAGGGAAAAATAATCAAGTATCTCTAACATAATATTTTAAAACCACTTACTCAACAGTTAAAAGCAGCACTAAAATGATTTTTAAAAGAAATAGAAGATAGCTTTACATAGCTTCAGAGATTTCTTTTCTTTTCTGTTCTTTTTTGTTTGTTTGTTTTTGTTTTTTTTTGAGAGAGAGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCTCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGTTACAGGGATGCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCAGGCTGATCTCGAACTCCTGACCTCAGGTGACCTACCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCACTGCGCCCAGCCCAGAGATTTCTTCTCCAAGCAAATAATCCAGGTTTGTCTCTAACCTTGCACAAAGAACTGCTTCCACTGCATTCTCTCCCTCTGTACGTTCACCCCAAATCCCATAACCCAAATACAGCATGATTCAGTAATTTGGGTAGAATCCTCTCTACATTGATTCTGTCTCTCCAAAATTGTAAGCAACCTAAGGAGCCTAAAATACTACTGCCTCAGCATCAGTGGACAGACTAAAATCTTCCTAATAGACAAAATAAATTCTTTTACACAGTATTCCTTTAAAAAGTTTGATTTTGGCCAGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGAGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAACAACAAACTTTGATCTTAAGTTTGTTTAGAAAATATAATAATCTACAGTTTTTCTCTTCAGTGAAAATCAGAATGAGTTTCCAAACTGTGGCTGCTGTAAGATCTGAAGGCGCACACTCTGGGGACCTGGATCACACTGTGGCTGTCAACCATGTGGCAGCTGCTGGCTGGGCTGGATGATGTTTATCAGTGTTCAATAACAGGTTTGTTCTTGTTTTTAACTGTCCGAATGACACAATTGTAAAGCTCTGATATTTGTTTAGTTTTGACAGCTTTAATGAGAAACTGTTTTTTTAAGAGGAAAAGAACAATGCAATACTTGGCAACACATTTCTCTGTACTGACCTACCAATCACAAAATCACCTCAAACTGTGAATCTCACCTGCTACGACAGTCGTGGTTTGGCATTGTACTCTGTCAGGTATATCATTAAGGGATTGATAGCCCTGAAAAATATTTCAAAATAAAAGGATGTACACAGTTAAGTCAAAGACTAGTTGACTAGTCACTCATTTTGCAACTCAGTACGAGTAGAGAGGCAAAATAAAAATATAACATTCATCTTAAGGGTGAAATGATCATTATATGGTCATCAAGAGTCTAAAAAAATCCCCTTTAGAGAGCATTGTCTTTAAATTATATCAATCAAAGGTCGTGTTAGAAGTTTTTCATATAGGGGGTCCCCATAATTTTAAAATCAACATATTTACACAGAGCCTAGGTACTATTATGGGTACATACATCTATACCAGTGGTTCTCAACTGGGAGAAATTTTGTTCTCAACTAGGGTATGTTTGGCAAAGTCTGGAGACATTTTGGTTATCACAGTTGTGGGGTGCTGCTGGGATTGTGTGGGGAGATGCCAGGGATGCTAATAAATACCCAACCATGCACAGGAGAGCCCCCGCCGCTAACAGCCATGCACAGTGTCACCAGTGCTGAGGTTAAGAGACACTGATCGGTACACTATCCCATGGGCAGACAGAAAGTGAATTTCTAAAAACAGAATCTTACTTTCTAATTAAAAATAAAATTAGAAATATAGTCTAAACGAAAAAAAAAAATGTCCTAAAGCATGGCTTACAGAGGATACAACTGTGGTGAGGATAAAACAAAAACAAAAAACAACCGTGCCGAGCGATAGGGCTTTGGGGCTAAACCCCCCATGAGAGGGAAATATCATTATTTCCAAATAATTCAACTAAACGTGCAGCCTTTCCTCTGGAAGAGGTTTAGTGGGTGTTTCTTCACTGTCTGCTGGTGTACTTAGCCGTCTGCCAGGGAAAAGTACAGCACTTTCAGCCTTCATAAGACTTATGGTGCCAGCCAGTTTCCACCTTAGCCTAGCTACATCAGATGTCACAAAATGAACATCCATGACTTCCGTTTCCTCCAAGGAGACTAAGCTACTCAGCACACCGGTGCTTGTGTTGGTTTTCTATATGCCTGACTCCTTGACATTCATCTGTGTCTGGACTTGCAGATGTCATGGGGGGTTTCACAGCTGGAAGGTGTCTTACAGATCTCCCGGTTCAATGCCTTCTTTAACAAATGAAGTAACACCAGAGTGCAAAGACCAAGAAATTTGGAATAACTTGTTTAAGGGACCACTTACTTTGTCGGTAAGTAAGTGTCTGGTAAACACATGTAGACAAGTGTTTAATCCATTTATGCTGAAGGTTGCAAATATTTTTTGTGAAAAATCAGAACCTGATGATGACATTTGGCAGTAGGATATAAATAACTCCCACAAGCTTAGCGTTCCAATAATAGAACACTAGGCATAAATGGGTTAATAGAGATTTGAGACTTTTTACATCCATCCTAAAAGACAGAGTTAAGAATAAAACTATTCTCTCATTTTCCCATAGGCCCAGGCACTCTACTGAACCATAATCTAAAAAGAAATATTTATTGCATACTCAGTATCTATTAGTTGAATAAAGAGCAAGATTTGGTAAGCTACTGGGGAAATCAGGGAATTCCAGACCAATGCTGTCCCTGCGTTTTTGGGGGTTTACAGTTCAGTGGTGGGAAGGGAGACATTAAAGAAATAATTACAGTTATGAGGAAATTAACAGAGAATATTTGCAATGCTGCAGGAATGTATTAAAAAGGGTTTGACCTAGTCAAGAAGCCCAGGAAAGGTCTGTTAAGAAGGTGATATATGGACCGGGCGTGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGGTCACCTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCAGGGTGTGGTGGCGTGTGCCTGTTATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGCGCAAGACTCCATCTCA
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Subsets and Splits
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