Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_22800
This genomic variant is located on Chromosome 16, within the HSF4 (heat shock transcription factor 4) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Cataract 5 multiple types
ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCC
ACGGCTCTAACCCAAGTTGCGAATGTGAGCTGGAAGGCATGCTGCCACCTTATCTGTCCGCCTGCCTCGACCACATTCACAACCTACGGCTGGAATTTGAGCCATCGAGGAAGCCGAGCCGCCGGGCGGCCATCGAGCTGCTGATGGTTCTGGCGGGCCGTGCCCCGGGGCTGCGAGGCCTGCGCCTGGAGTGCCGCGGAGAAAAACCGCTCTTCGACGCGGGCCGCGACGTCCTGGAGGCTGTGCACGCTGTATGCGGGGCGGCCAGCCAGCTACGCCACCTCGACCTGCGGCGCTTGTCCTTCACACTGGACGACGCGCTGGTGCTGCAGGCGGCGCGCAGCTGTCCCGAGCTCCACAGCCTTTTTCTGGACAACAGTACCCTAGTGGGCAGCGTGGGTCCCGGCTCAGTGCTCGAGCTACTGGAGGCCTGCCCGCGCCTGCGCGCTCTCGGCCTGCACCTAGCCAGTTTGTCGCACGCCATCCTCGAAGCACTGGCGGCGCCAGACCGAGCGCCTTTCGCGCTCTTGGCTCTGCGGTGCGCGTGCCCCGAAGATGCACGCGCGTCCCCGCTGCCCAACGAAGCCTGGGTCGCGTTGCGCCGCCGCCACCCTGGGCTGGCAGTGGAGCTGGAGCTGGAGCCCGCGCTGCCCGCTGAGAGCGTGACGCGCGTCCTGCAGCCAGCCGTCCCCGTGGCTGCGCTGCGCCTCAACCTCTCAGGCGACACCGTAGGCCCAGTGCGCTTCGCAGCACACCACTACGCCGCAACCCTGTGCGCGCTCGAGGTGCGCGCAGCCGCTTCGGCCGAGCTGAACGCCGCGCTGGAGGAGCTGGCGGCGCGCTGCGCGGCCCTGCGCGAGGTGCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAATCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCC
Task1_train_22801
Given this variant in gene HSF4 (heat shock transcription factor 4) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Cataract 5 multiple types
GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCC
GCATTGTTTCTGCGTGGTGAGCCACTCGGTGCTGGACGCCTTCCGCGCGCACTGCCCGCGCCTGCGCACCTATACCCTCAAGCTCACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCGTCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCC
Task1_train_22802
The gene HSF4 (heat shock transcription factor 4) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Cataract 5 multiple types
ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAG
ACGCGCGAGCCGCATCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACCGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAG
Task1_train_22803
Here’s a variant in HSF4 (heat shock transcription factor 4) located on Chromosome 16. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Cataract 5 multiple types
TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGCGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAGGGAGCTTCAGCCCC
TCCCTGGAGGCCTACGCTCGTGGCGTGATTGGGCGACTTCTCTCCCCCGTCCCCGTGGACGTAAGCGCTCTGAGAGGGAACGGGGGGGGTGTCCAGGCGCGCCCCGAGTGCTAGTGCCTTCTTTTGGGATTGTTGCCCCCCGGGTCTTTACCGAGTTGGGAACTGTGATGGCATCGGGACCAGTCCTGGGCGCCCTGAGACCACTCGCTGCTCTCACCCTCTGCAGACGCCCCACCCGCTCGGTCCTGGACACACTGCCCCCCTCTCTTGCCTCCACCCCTCTGCGGACTCTGCAGCTCCGCGGCCCCGGCGCAGGGAGAGGGAGGGCACGGGCGCGGGCCGGGCCTCAAGGGTGAGTGTGAAATAAACAAATCCTGCAGTGTTTCTGCGTCCTATTAAAGGCGGGGTCGGATCTGAAAGGGAAGGACAGGGAACGCGCGGGGTACCGGAGGAGCCATCCCGGCAGAGGTTGGGTTTCCTCAAGAGCCTCTGGACGACACAGCTGCGGGGGGTCAGGGTCGGGGCACTCACACCCTTGGAATGACTACGTCCCGGGGTTCGGCGGGAGGGGGCGTGCTTCCCTGCCCCCCCTTCCTATCTGCTTGCCCTGCCTGGGGCTTCACTGTGCCTCTGGCCATTACCTTCTAGGACTTGCCCAGCCCACACCAGGTCGCGCACCGGCGATTTCTCCTGTAGAACAAAGAAGGAAATAGAGGGACCGAGAGGGGTGGGACTCGAACCCAAGTCTCCCACTCATCTCACCCCACCCCACCCCACTCCACCCCACCCCACCCCTCCACTCCACTCCACTCCACACATCCCATCCAGCCAGCCTTTTCTGCCTGCTGGTGCCTCGGCCGCTGTCCGAGCCCCGCCCCGCGGGCTTGCACGTGGCCCCCGCCTGACCCGGCGCCCCGGGGCGGAGTAGGGCGGAGCGGGCGGCAAACGCAGCACTTTCCGCGGCTTTGACGAGCCCGCAGCGGCCGGGCCCGAGCGCAGAGCCGGGCCGAGACTGCACCATGCAGGAAGCGCCAGCTGCGCTGCCCACGGAGCCAGGCCCCAGCCCCGTGCCTGCCTTCCTCGGCAAGCTATGGGCGCTGGTGGGGGACCCAGGCACAGACCACCTGATCCGCTGGAGCCCGGTGAGGGCCGGGGCCCCTCGATTCCCCCTGTGGTCCCGGGGTCCCTCCACGTCAGTGAACACCCATGCCCGCCCAACCCCCTCCTGAGACTGGGCCGTGGATCCCCGGATTTGGCCATTCAGAGAAGTTCACCTTGGAGGGGGTGTGCGAGAGGGGGGTTTCCTCTGCGGCCGAAGAAGGGTTAGGAGCCTGCCTTCTGAAGACCTAGAGTCCGAGGGACCTTCGAGGCCATTTAGTTCCCACCCTACCCCATCCGACAGATGGGAAAACAGAGGCCGGGAGATGGGAAGGGCTGGTCTAGCTCAGGGTCACATTGCGGGGCTGGGAACCCCGTCAGCCTCTCCTTTCTGAGAACTGAGTATGGAGTCAGGGTCTGGCTGGGGGTAGGGACTCACTGTGGTCGCTCCAGGCTAGGCCTCGGAGCCCGTTCTGGCCTGGCCTCGACCCATATCCCCGTAAGCGGCAGGCCTGGACCCAAGAGTGAGCATGAGTGTGTGCGCGCGCTGGAGCGCAGGACTGGCCGTGAGCGGGCACCGCTCACCCTCCTGGTCTCCGCCCGCACGGTGGGCGGGCGGCGTTCTTGGTAGAGCGGGACCAGTTTCCTCGTAAGCGACCAGAGCCGTTTCGCCAAGGAAGTGCTGCCCCAGTATTTCAAGCATAGCAACATGGCGAGCTTCGTGCGCCAACTCAACATGTGTGAGTCCCTACGGCCGGGCGGGGAGCGGGGATGGGGGACTCGGTGCCGGGGATGGGGCGACCCACGCCCCCACGCCCCACTCCCCAGACGGTTTTCGGAAGGTGGTGAGCATCGAGCAGGGCGGCCTGCTTAGGCCGGAGCGCGACCACGTCGAGTTCCAGCACCCGAGCTTCGTGCGCGGCCGCGAGCAGCTACTGGAGCGCGTGCGGTGCAAGGTGGGGGCGGCCTGCGGGAATGAGCAAAGAGGAGGAGGGGTGCTGGGACTGCCTGCCTTGCTCCTGCGACCCAGTCCCGACGGTGCCTCCCGCCTGCAGGTGCCCGCGCTGCGCGGCGACGACGGCCGCTGGCGCCCGGAGGACCTGGGTCGACTACTGGGCGAGGTGCAGGCTTTGCGGGGAGTGCAGGAGAGCACCGAGGCGCGGCTGCGGGAGCTCAGGCAGTGCGGGGGCGGGCGGGGAAAGAGGGGACAGGGGTGGGGGGTTCGGGATGAGACCATAACTGGCCGGCCAGCAGTTCTGGGCAGCCCCTTCCTCTCTCCTGCCTTGGCGCCTCCATCTAGACTTATGGGCGATCTCTGGGATGGCCAGTCAGCGGGGTGGTCTCCTGGGTCCCCAGCCTCGCCATTCTGTGGGGGGTGGTGACTGGGCGAACTCTCAGATGCCTCAGCACCCTCCCACCCCTTCCTCAGGCAGAACGAGATCTTGTGGCGGGAGGTGGTGACACTTCGGCAGAGCCACGGTCAGCAGCACCGGGTCATTGGCAAGGTGTTCCTCTCCCCAAGCCTCGCTTCTCCCTCCCACTCCTCGACACCCCATTCCACCGCCCAGTCCCCCGGCGCCCCTGTTAAGCCTTCCTCCCTCACCTGGAAGTGCGGGGGTGGGGGGGCTGTGTCCAAAGTATGAATTAAACCTTTGCTTTCTCTTCAGCTGATCCAGTGTCTCTTTGGGCCACTTCAGGCGGGGCCGAGCAATGCAGGAGGCAAGAGAAAGCTGTGAGTGAGAAAGCCAAGAAGGCCCACACCCACTTCCAAGACCCCCCAGAAGTCCCCTTGCAAGGACCCCTTCTCCTCTGGAAACTCCTTCACCGGGAATCCTCATTCCTCCCCCTGCGCTACAGGCTTCCTCACCCCATCTAGGATCCACTTCCCCCCAACTCTGCCACCTGGTATCCCCACTCCCAGATCCTCCCATTCCAGGACCTTATTCCCAAATTCCTACCCCAGCAGCCCCTTCCCCCTCCGGCAAGGCTTCCCAACAGCTGAGACCCTGGGGCTCAAACCAGGTTCCCTCCCTCCCCTCTCTACCCACAAAGGGCCCCCATCTCTAGGGGGAGCCCCTTCCACCTCCAGCATGTGACTGACACCCTAGCAACAGGCCTCAGCTCTGCTGACTTGGCTGCTGGGGCCTGAGGGAGGGAGGGAAGTGCAGGCCGAGGTGCATGGGGGCTGACCCTGCCCCACCCCTGCCTGTGCCCTGATCGACCACACAGGTCCCTGATGCTGGATGAGGGGAGCTCATGCCCAACACCTGCCAAGTTCAACACCTGCCCTCTACCTGGTGCCCTTCTGCAGGACCCCTACTTCATCCAGTCGGTAGGTTTGTCTTCTTCCCCCTTCCCAAGGGCATGGCTGGGCTTATGGAGAGCCTGTTCCTTCTCCCCATCCCCTAAAAGGAAGAGAAGATGGAAGCCAGCCTTCCCCCCAACCAGACCCAGGCCCTCCAGCATGGACTGAGCCTCCTCCCTCAAACCTTCTCCCTTAGACCTGGCCCAGGTGGGTGTTGGTGGGGTTCTGGCTCTCCCTGTGCCTACAGGCCAAGGGCTGGGCCTAGCCTTCTACTTACAGCCTCTCCCAGAGACAAATTTGGGCCTTAGCCCTCACAGGGCCAGGGGCCCCATCATCTCTGACATCCCAGAAGACTCTCCATCCCCTGAGGGGACCAGGCTTTCTCCCTCCAGTGATGGCAGGAGGTAAGGGGGACAGGGCTGCCCCTGAGGGGCCTGTGGGGGAGGGCCTGGCAGCCCAGATGGCTGTAGGGGTAGAGGGAGAAGTCAGTGCCAGGGTCTGGTTGAAGCTTTTCTCTGGTGCAGGGAGAAGGGCCTGGCACTGCTCAAAGAAGAGCCGGCCAGTCCAGGGGGGGATGGCGAGGCCGGGCTGGCCCTGGCCCCAAACGAGTGTGACTTCTGCGTGACAGCCCCCCCGCCACTGCCTGTGGCTGTGGTGCAGGCCATCCTGGAAGGGAAAGGGAGCTTCAGCCCC
Task1_train_22804
This genomic variant is located on Chromosome 16, within the HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Apparent mineralocorticoid excess
CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGG
CCCCTACACTGGCTCTGCCTGGTGGTTCTTCTCTTCGCATACCAAAGACAGAAATTAAGCCTCCAAGAGTGGTAACTGACCTCGGTCACACTTGGTGGGTGTGGGAAAGGATTCAAATGTAGGTCTGTTCTCTTCTTCATCTATCATGGTCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCTGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGG
Task1_train_22805
This mutation occurs in HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Apparent mineralocorticoid excess, mild
TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCAT
TCCCTGTCCTGGAGGCAAGTCGTCTGGGGCTCAGAAAACACCCCTGTTGCCACTGATTGGAATTCCAAGGGTCTGGGTGAAGTGGGGATGGGCCTCCAGCTTGCCTCCAGCCTGAAAAAATAGTAGAGGGTGTTGAGGCTGGGAAGGGAGGTGGGGCTCATGTTGTACAGGGCCTGAGCCAGGGAGCTTGGGCTTCATTCTGAGTACTGTGGCAGCCCTGGGAAGGTTTGTAGCACAGAGGGATATTGTCATTTTTGGAAAGATCCCTTTGGCTGCTTAGGTAGAGAAGGGCTTCAAGAGGGCAGGAAGGGACAGGACTACAGAAGGGGCTGCTTCAGAGTCCAGATTAAGGAAGGAGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCTGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCAT
Task1_train_22806
With a mutation on Chromosome 16 in gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Apparent mineralocorticoid excess
AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGA
AGAGGCCTGGGCAGTCAGAAAGGAAGAGAAGCCGGATGTGGTGGCTTGTATCTTCAATCCCAGCACTTTGAGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAAACCAGCTTGGGCAACATAGTGAGACTCCCATCTCTCCAAAAAAATTTAAAAACCAGCCAGGTAGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGTGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGA
Task1_train_22807
The variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Apparent mineralocorticoid excess
AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTA
AGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCTGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTA
Task1_train_22808
This variant affects gene HSD11B2 (hydroxysteroid 11-beta dehydrogenase 2) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Apparent mineralocorticoid excess
CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCTATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTACCT
CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAGAGTTAGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACTTAGCCAGGCCTGTGGTGATGCGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCACTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAACAAAAAAAAAAAAAAAGAAAAAACCAGCCAGGCGTGGTGACACAGGCCTGTAGTCCCAGCTACTCAGGAGACCGAGGAGGAAGGAATGCTTGGGCCCAGGAGGGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGAAAGGGAGGCTCCTACTAATACTGTGCCTGTGCCTGTGAGCTGTGGCCTGAAATCAAGAAAGCAGAACCACACTGGGGCCTGGGACTGTCCCAGACCTGACCTGTGTGAATTTGGGAAGCAACTTAGCATTACTAGGCCTTAGTTTCCTCTTCTGTAAGCCACATTAGTGGGGTAGCCACGGGGAGTCAGGCAGATGACAGCTGTCACAGAGTTACTGCCCAGGGCTCAGCTAGAGGGACACAGCCTGCCAGGGATGGGCCTAGGGAAGGAGTTAGGGTTGTTGACTGCTGGTGGCTTGGTTTGCAGGGGCCTGGATCCCATCCAGACCCTGGTGATTCTGGGGTTGTCTCAGGCTAGGCTGGGCCACAGTGGAAGTTCACTGACTGCCCTGGCCTGGCCAGGCTGTGACTCTGGTTTTGGCAAGGAGACGGCCAAGAAACTGGACTCCATGGGCTTCACGGTGCTGGCCACCGTATTGGAGTTGAACAGCCCCGGTGCCATCGAGCTGCGTACCTGCTGCTCCCCTCGCCTAAGGCTGCTGCAGATGGACCTGACCAAACCAGGAGACATTAGCCGCGTGCTAGAGTTCACCAAGGCCCACACCACCAGCACCGGTCAGTGGCAAGTGTCCACCAGGCAAGGGCGTGGCAGGGGAGTGGGAAGGACACGGGGACTGGAAGTTTGCTGCTGGGCTGACCTAAGGCTTCCCTCCTCTGCTCTGTGACCCCAGGCCTGTGGGGCCTCGTCAACAACGCAGGCCACAATGAAGTAGTTGCTGATGCGGAGCTGTCTCCAGTGGCCACTTTCCGTAGCTGCATGGAGGTGAATTTCTTTGGCGCGCTCGAGCTGACCAAGGGCCTCCTGCCCCTGCTGCGCAGCTCAAGGGGCCGCATCGTGACTGTGGGGAGCCCAGCGGGTGAGTGCCCCCCCCCACTGGAGCAAAAAGGAGCCCCCTGGGGTGGGGGAGGGCTTAGGGAGCCCCTTGCCAAAGCTGAGCTGCCCCACTCCCAATCCATCCGCAGGGGACATGCCATATCCGTGCTTGGGGGCCTATGGAACCTCCAAAGCGGCCGTGGCGCTACTCATGGACACATTCAGCTGTGAACTCCTTCCCTGGGGGGTCAAGGTCAGCATCATCCAGCCTGGCTGCTTCAAGACAGGTGGGAATCAGGGCTGGGGGTGGGGTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGTTGGGGGTGTAGTTTTGGCTGCAGACCTGGCGCGGGTTAAACAGTCCTAATTGGCTTTGGCTCCCCTAGCTGATCCCACTCTGACCTTGCCACTCCTTCCCCAGAGTCAGTGAGAAACGTGGGTCAGTGGGAAAAGCGCAAGCAATTGCTGCTGGCCAACCTGCCTCAAGAGCTGCTGCAGGCCTACGGCAAGGACTACATCGAGCACTTGCATGGGCAGTTCCTGCACTCGCTACGCCTGGCCATGTCCGACCTCACCCCAGTTGTAGATGCCATCACAGATGCGCTGCTGGCAGCTCGGCCCCGCCGCCGCCATTACCCCGGCCAGGGCCTGGGGCTCATGTACTTCATCCACTACTACCTGCCTGAAGGCCTGCGGCGCCGCTTCCTGCAGGCCTTCTTCATCAGTCACTGTCTGCCTCGAGCACTGCAGCCTGGCCAGCCTGGCACTACCCCACCACAGGACGCAGCCCAGGACCCAAACCTGAGCCCCGGCCCTTCCCCAGCAGTGGCTCGGTGAGCCATGTGCACCTATGGCCCAGCCACTGCAGCACAGGAGGCTCCGTGAGCCCTTGGTTCCTCCCCGAAAACCCCCAGCATTACGATCCCCCAAGTGTCCTGGACCCTGGCCTAAAGAATCCCACCCCCACTTCATGCCCACTGCCGATGCCCAATCCAGGCCCGGTGAGGCCAAGGTTTCCCAGTGAGCCTCTGCGCCTCTCCACTGTTTCATGAGCCCAAACACCCTCCTGGCACAACGCTCTACCCTGCAGCTTGGAGAACTCCGCTGGATGGGGAGTCTCATGCAAGACTTCACTGCAGCCTTTCACAGGACTCTGCAGATAGTGCCTCTGCAAACTAAGGAGTGACTAGGTGGGTTGGGGACCCCCTCAGGATTGTTTCTCGGCACCAGTGCCTCAGTGCTGCAATTGAGGGCTAAATCCCAAGTGTCTCTTGACTGGCTCAAGAATTAGGGCCCCAACTACACACCCCCAAGCCACAGGGAAGCATGTACTGTACTTCCCAATTGCCACATTTTAAATAAAGACAAATTTTTATTTCTTCTAAAATGCGGCAGGTGCTGTTTGGAGGGGGTCACTGACTGGCTGGCTGAGTGACACAGTGTGGCCGTGTGACAGGGTGGCAACTCCTGGGGCTCAGCGTGGAGGCTGGGATTCCCCTGGTAGACTCTGGTTCACACCTCCCCCTCCTCCACTGACCTGGGGCAAATCATTTCAGACCATGGGTTTCCTCATAGTGAAATGGGGGTAATGACACTGATCCCAATTGCTTGAAGCAACTGGGGAGGCCAGGGGGGCCTCCAGGGCCAACATCTAGCTCCCCAGGCCTGTATGCATCTGAGCCTCCAGCAGAAGAAGGGGCTATCTCCCTGGGACTCCCCAACCCTGAAGAATCTCGGCTGCTGACTGAGGGAGGGAGGTGGAGGCTTAGGCAGGGTTGCTTAGCAAGGTGGGGTCACGAGGGAAGTTAGGGGTCATGGAGAGGTACCAGGGCCTAAACGAGACAGCAGACAGTTGGCCTTAGAGAGGGCAGTTTTATTGTCTCAGAGGGGCAGGGCTGAGGGAGGGAGCTGAGGAGCAACATCCCCCCAGGCCCCAAGGACACACACACTCTGTCCTTCCCATGGGCCATGGCTCTGGGAGCGACCCACAGAAGGGAGAGGAGGCTCAAACTGCCCCCAGGCCCCAGGGTTCTCAGGTCAGGGAGTTAGGGAGGAACATGAAAGTGACATGCTTCTTAGATACATCAGCGGCTGTAACCACAGGGCTGAGGGGGCCTCCTTGCTCTGGAGGGGGTCTTCGTCCATCCTTGGTGGGGGGGGGTGCCCAGCCCCTTTTCAGGCCTAAGAACAGTCTCTAAGAGGGTCAGGAGAACTGGGCAGCCGCTAGGACAGCGTACTACACCCCGGACAGGCAGGTGAGCCACAGGCTTGTCACAGACCACATACACACACACGCACACACACGCGCACACACACACACACACACACAAAGAGTGCAATTGAGAGCCTTGGGCCAGGACGCTAGAAGATAGGGATGTAGTTGTCGATTTTGGCGCGGTGGCGCTGGGCGATACATTCAGCGATCCACACGATGTTGCGACACTCCTGCTCCTTGAGCTTCACGAAGGCATAGAAGACACCAAAGTGGAACTGGTTCAGGAAGGCCAACTTGTTCAGCTTTACCTGTGGACACGGGCAGATGTGGTGTCCAGGTGGCCATGGCCACAGAGTCAGGTCTAAACCACCAGGTTGGCCTCCCTCTGACAAGCAGACCCTGCAGACTCACCTCGTGCTCAAAGAATCGGTCCTCCAGCGTCTTGTCTCCAGGGTTGCTACCT
Task1_train_22809
This mutation occurs in CTCF (CCCTC-binding factor) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGGCCTGATAATTCTTTGTGGTGGAGGACTGACCTGTGTCTTGGAGGATGTTTAATAGCATCTCTAGCTTTCACCCACGAGATAACAGTAGCACATCCCAGCCCAGTAGTGACAACCAAAAATGTGTTAGCCAAATGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCCCCCACGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAAGCTATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGTAGTGGTTGTTTCTTTCATCAAGAGGCACATGTCTGTTGTGTCTTTTTTAATATTAACAACCATTGATGCCTAATTCATTCACCAAAGGGTCTTTTTGTTTTAAAATGTATATTTTTATTTAGACATGCTTTGCTTTAAATAACAATCTGTGTTCTCCCTTAATAAAGGCAGGGGAAATGGAAGGTGATGCAGTCGAAGCCATTGTGGAGGAGTCCGAAACTTTTATTAAAGGAAAGGAGAGAAAGACTTACCAGAGACGCCGGGAAGGGGGCCAGGAAGAAGATGCCTGCCACTTACCCCAGAACCAGACGGATGGGGGTGAGGTGGTCCAGGATGTCAACAGCAGTGTACAGATGGTGATGATGGAACAGCTGGACCCCACCCTTCTTCAGATGAAGACTGAAGTAATGGAGGGCACAGTGGCTCCAGAAGCAGAGGCTGCTGTGGACGATACCCAGATTATAACTTTACAGGTTGTAAATATGGAGGAACAGCCCATAAACATAGGAGAACTTCAGCTTGTTCAAGTACCTGTTCCTGTGACTGTACCTGTTGCTACCACTTCAGTAGAAGAACTTCAGGGGGCTTATGAAAATGAAGTGTCTAAAGAGGGCCTTGCGGAAAGTGAACCCATGATATGCCACACCCTACCTTTGCCTGAAGGGTTTCAGGTGGTTAAAGTGGGGGCCAATGGAGAGGTGGAGACACTAGAACAAGGGGAACTTCCACCCCAGGAAGATCCTAGTTGGCAAAAAGACCCAGACTATCAGCCACCAGCCAAAAAAACAAAGAAAACCAAAAAGAGCAAACTGCGTTATACAGAGGAGGGCAAAGATGTAGATGTGTCTGTCTACGATTTTGAGGAAGAACAGCAGGAGGGTCTGCTATCAGAGGTTAATGCAGAGAAAGTGGTTGGTAATATGAAGCCTCCAAAGCCAACAAAAATTAAAAAGAAAGGTAAAACGAGTTTATCCATAGTGGTTTCATAAAACCATTTTGGGATAAGCATACAACACAGTGCATATGCAAGTTGTTTTATATTAACCGTATTTGTAAAAGGTCGTTATGTGGGTACCGTTCTTTAAAACCAGTCTAAAATAAGTTTTTTCCAGATTGAATGCTCTTTTTTTAATCCCAAAGAAGAAGGAAATGTATTAGTGACATGAGATAATTATGACTTATATTGGGTTTTGTTATTAAAAGCTAATCAAATATATTTGTAGAAATTTAAGATTAGGATTAATCTTAACACTTTGAAACTCTGCAGCAAGTAAGTGTTTTATTTTGCACATAGGTGTAAAGAAGACATTCCAGTGTGAGCTTTGCAGTTACACGTGTCCACGGCGTTCAAATTTGGATCGTCACATGAAAAGCCACACTGATGAGAGACCACACAAGTGCCATCTCTGTGGCAGGGCATTCAGAACAGTCACCCTCCTGAGGAATCACCTTAACACACACACAGGTGCTGGATAAGAATGTTGGGGGCTACAACAGCAAATGCTCAGACTTCGCTTTTTAGTATTCATTCAAGCTGACTCCAGCGGGAATTTAAAGGAAGTTTTTATTATTTCTTATGATGCCCTTTTTGTAATCATGATTTTATTGTAAGCACTTGGACTTAGTTATTATAGACAAATGTAAAGAAAATTTAATGAAAAATAACACCCTCTCTCTTAAAAAAAAGAAGTCTCAGGCAATAGATGCCTGGTACTATGAGGAAGAATGTTAGAAATAGAAGTGAAATCCCAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTTAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGTGCGAGTCTCCGTCTAAAAAAAAAGAAAAGAAAAGAAATAGAAGTGAAATCCTACCTTTATTTAAAAAAAAAAAAGTGGCCGGGTACAGTGGCTCACGCCTGTAATCCTAACACTCTGGGAGGCTGAGGTGGGCAGATCACTTGAGATTAGAAGTTGGAGACCAGCCTGGCCAACGTGACAAAATCACATCCATCTGTACTAGAAATACATAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAAACCTGGGAGGCAGACACTGCAATGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAACAAACCTTAACATTTTTTGTTTCTGGTTGTTTCACGTCAAGGAAGATAATTCATAATTTCAGAATGGAAAAGCTAAGGCACCATTCTGATAATTCAAACATTTATTTGAGCATCCTACTTACTTTAGTGTTCAGATATTCTGATATTAGCTTCATGTTGGCTGTGGCCAGGTTCCCTGAGGTCTCTAAAGTAGAGGGACTCTGTGCACTAAACCTCTCTTTAAGCTTTCCTGAGCTATTTGTTATCCCAGTGTAGGAAGTTGGTTGCAAGTCTTCTCACATGGTTTTTCATGCAGAATAACTTCATTTCATATGACAACTCTTGTTTTTGATTTTTAGGTTTTTAAAAATTTCTAATGACAACCCTTGTTTTAGATTTGTTGTGCTGGTTGTCAGATGACCATGATCAAGTGGGTGTTAATCATAAACAGTATGCTGCACATGGGCACATTCTTCACTAATGTGACTTACTTTTAAACATCTCCCTAATTTCTACTCAGACACTTGATAATATGTTTTATTTGATACTTTGAAGACACTAGGATGGGGCATATGACTAAATAAAAGTAACTGGGTAATCCCAGCACTTTGGAAATCCAATGGGGGGTAGATGAC
ATTTCTAATTGTCTTGTGTCACATCTTTTTCACCATTTATTGGTTTGAATCAGGATCCAAAGAAGATTCATGCATTGTGATTGATTACTGTCTCTTTAAGACTCTTTTATCTGTATCAGAGTTTCTCAGCCTCAGTGCTCTTGACATCTTGGGCCTGATAATTCTTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCCGGTAATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTGGCCTGATAATTCTTTGTGGTGGAGGACTGACCTGTGTCTTGGAGGATGTTTAATAGCATCTCTAGCTTTCACCCACGAGATAACAGTAGCACATCCCAGCCCAGTAGTGACAACCAAAAATGTGTTAGCCAAATGTTCCTAGAGGCAAAGTCACCCCAGGCTGAGAACTACTGATCTACTGGTTCTCCCTCCAATCAGTCTTCCCTTGTATTCTTCTTGTTATCTATTTGCAGAAGAACCTGAGTATAATCTTGCAGTGTTTCCCTCGGTATGGATTTCACTGATTTAATCCCTGTAGTATAATTTAACATCCTGAGTCACCAATTTCCTGTTAATTGGGTTGGATCTAGAGACTTGATTGGTTTCAGAGTTTTGGAGTTTGTTTGACAAAATTGCATTATAGGTAGTGGTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCCCCCACGCTGGAGCGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGATTCAAGCTATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGTTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCTGGCCAGTAGTGGTTGTTTCTTTCATCAAGAGGCACATGTCTGTTGTGTCTTTTTTAATATTAACAACCATTGATGCCTAATTCATTCACCAAAGGGTCTTTTTGTTTTAAAATGTATATTTTTATTTAGACATGCTTTGCTTTAAATAACAATCTGTGTTCTCCCTTAATAAAGGCAGGGGAAATGGAAGGTGATGCAGTCGAAGCCATTGTGGAGGAGTCCGAAACTTTTATTAAAGGAAAGGAGAGAAAGACTTACCAGAGACGCCGGGAAGGGGGCCAGGAAGAAGATGCCTGCCACTTACCCCAGAACCAGACGGATGGGGGTGAGGTGGTCCAGGATGTCAACAGCAGTGTACAGATGGTGATGATGGAACAGCTGGACCCCACCCTTCTTCAGATGAAGACTGAAGTAATGGAGGGCACAGTGGCTCCAGAAGCAGAGGCTGCTGTGGACGATACCCAGATTATAACTTTACAGGTTGTAAATATGGAGGAACAGCCCATAAACATAGGAGAACTTCAGCTTGTTCAAGTACCTGTTCCTGTGACTGTACCTGTTGCTACCACTTCAGTAGAAGAACTTCAGGGGGCTTATGAAAATGAAGTGTCTAAAGAGGGCCTTGCGGAAAGTGAACCCATGATATGCCACACCCTACCTTTGCCTGAAGGGTTTCAGGTGGTTAAAGTGGGGGCCAATGGAGAGGTGGAGACACTAGAACAAGGGGAACTTCCACCCCAGGAAGATCCTAGTTGGCAAAAAGACCCAGACTATCAGCCACCAGCCAAAAAAACAAAGAAAACCAAAAAGAGCAAACTGCGTTATACAGAGGAGGGCAAAGATGTAGATGTGTCTGTCTGCGATTTTGAGGAAGAACAGCAGGAGGGTCTGCTATCAGAGGTTAATGCAGAGAAAGTGGTTGGTAATATGAAGCCTCCAAAGCCAACAAAAATTAAAAAGAAAGGTAAAACGAGTTTATCCATAGTGGTTTCATAAAACCATTTTGGGATAAGCATACAACACAGTGCATATGCAAGTTGTTTTATATTAACCGTATTTGTAAAAGGTCGTTATGTGGGTACCGTTCTTTAAAACCAGTCTAAAATAAGTTTTTTCCAGATTGAATGCTCTTTTTTTAATCCCAAAGAAGAAGGAAATGTATTAGTGACATGAGATAATTATGACTTATATTGGGTTTTGTTATTAAAAGCTAATCAAATATATTTGTAGAAATTTAAGATTAGGATTAATCTTAACACTTTGAAACTCTGCAGCAAGTAAGTGTTTTATTTTGCACATAGGTGTAAAGAAGACATTCCAGTGTGAGCTTTGCAGTTACACGTGTCCACGGCGTTCAAATTTGGATCGTCACATGAAAAGCCACACTGATGAGAGACCACACAAGTGCCATCTCTGTGGCAGGGCATTCAGAACAGTCACCCTCCTGAGGAATCACCTTAACACACACACAGGTGCTGGATAAGAATGTTGGGGGCTACAACAGCAAATGCTCAGACTTCGCTTTTTAGTATTCATTCAAGCTGACTCCAGCGGGAATTTAAAGGAAGTTTTTATTATTTCTTATGATGCCCTTTTTGTAATCATGATTTTATTGTAAGCACTTGGACTTAGTTATTATAGACAAATGTAAAGAAAATTTAATGAAAAATAACACCCTCTCTCTTAAAAAAAAGAAGTCTCAGGCAATAGATGCCTGGTACTATGAGGAAGAATGTTAGAAATAGAAGTGAAATCCCAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTTAGCCGAGATCCCACCACTGCACTCCAGCCTGGGCGACAGTGCGAGTCTCCGTCTAAAAAAAAAGAAAAGAAAAGAAATAGAAGTGAAATCCTACCTTTATTTAAAAAAAAAAAAGTGGCCGGGTACAGTGGCTCACGCCTGTAATCCTAACACTCTGGGAGGCTGAGGTGGGCAGATCACTTGAGATTAGAAGTTGGAGACCAGCCTGGCCAACGTGACAAAATCACATCCATCTGTACTAGAAATACATAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTCAGGCAGGAGAATCGCTTGAAACCTGGGAGGCAGACACTGCAATGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAACAAACCTTAACATTTTTTGTTTCTGGTTGTTTCACGTCAAGGAAGATAATTCATAATTTCAGAATGGAAAAGCTAAGGCACCATTCTGATAATTCAAACATTTATTTGAGCATCCTACTTACTTTAGTGTTCAGATATTCTGATATTAGCTTCATGTTGGCTGTGGCCAGGTTCCCTGAGGTCTCTAAAGTAGAGGGACTCTGTGCACTAAACCTCTCTTTAAGCTTTCCTGAGCTATTTGTTATCCCAGTGTAGGAAGTTGGTTGCAAGTCTTCTCACATGGTTTTTCATGCAGAATAACTTCATTTCATATGACAACTCTTGTTTTTGATTTTTAGGTTTTTAAAAATTTCTAATGACAACCCTTGTTTTAGATTTGTTGTGCTGGTTGTCAGATGACCATGATCAAGTGGGTGTTAATCATAAACAGTATGCTGCACATGGGCACATTCTTCACTAATGTGACTTACTTTTAAACATCTCCCTAATTTCTACTCAGACACTTGATAATATGTTTTATTTGATACTTTGAAGACACTAGGATGGGGCATATGACTAAATAAAAGTAACTGGGTAATCCCAGCACTTTGGAAATCCAATGGGGGGTAGATGAC
Task1_train_22810
This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTACTTCAACCTGGAAGGTAGAGGTTGCAGTGAGCCAAAATCATGCTACTGCACTACAACCTGGGCGACAGAGCAAGAGACTCCGTCTCAAAAAAAAGAGGATGGGCCTTGAGTGAAGGGATGTAGGTGGTCATGTGGCACAGCCTAATGGAACTCCCTGCCCCACAGCAGTGTCCACTTCTTTGCTAATTGCCACGCTTATGCAGGCCTTTCTCTGCCCTGGATAGTACTAGGTAAACACGAGCATTTATTTTTTAGCTTACTTTGTTCTAAAAGAAGACCAAGCATGGTGGCTCACAACCTGTAATCTCAGGACTTTGTGAGGCCGAGGCCGGAGGATTGCTTGAGCCCAGGAGTTTGAGACAAGCCTGGGCAACGTGGCAAGACTCCATCTCTACAAAATAGAAAAAATTAGCCAGGCATGGTGGTGCAAGCCTGTAGTCTCAGCTACTGGAGAGGCTGAAGTAGGAGGATCACTTGAGCCTGGGAAGTCAAGGCTGCAGTGAGCCTTGATCCTATCACTGCACTCCCACTGGGTAACAGAGGAAGACCCTGGCTCAAAAACAAAAAACGAAAAGAAAATTGGATGCCACTTTTCTTCTCTTGTTAATTGTTTTACTTCTTATCCATACCACCAGACTATACACTTTCACAGGAAGAACTCTGTGCTTTACCGTTAGATCCATAGTGGTTCTAAAGAATCGAATGAACAAATGAACATTCCTTGGAATTGCTTAGTTTTTATTATACTCCAGTCACTCTTCCTCTCCAGCATTCTCTTCATTCTCAAAGAGAATCATTTCTGCAGATGGCTGGTTCTATTCATTACATTGTGGCTCTTCCTAATTGTATCCTCAAAGGCAGCCTTCCTTTGGTTTTAGTGTTTGATACTACCTTGCTGTCACCCCTTACCTGCTGCCCACAATTACAGATGGTCACTAGTCTGTGAAACTAGCACTGCATTGTGCTCTCAGTTTTGTCTCTAAGATTCCTTCAGTGAAAGACAAGAAATGTAGAGAGTATATTATTCATGTTTTATATTGGATGAATTGACATTCAGAATGATCACAGCATATTAGACATGGATGTTTGAAAATCATTTGTTTAAATCACATAAAAGGAAATACTATGTAAAGCCTGTGATAAGCCTCTGAAATTCCTTATCAAGACAGATACATGTGGAAAACAAGTTATATGTTTGTGTTTTTAAAAGAAAGTTGCAGAATATGGACAGCCCAATGGCCCTATATTTATAGTCATAATACAACGAGATTTGAGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTAGCCTCCCAGAGTTCTGGGATTAGAGGCATGAGCCACCAAGCCCGGTCTCTATTAACTTTTAATCCATAATGACCAGGATATTCACAAAATAGGAATAAGAAGGTTTTTATTGTATTCAAAGGCAGCGGATTCAGATGGGTAATTAAGAGAAACTAATTTGGTATGTGTTATAATATCCTGGTGTTAGTATAAATTCATCCAGGCCCTCCCATAGTTTTCGGAGCTGACTTTTGTATCTGCTTTCAAGCTACTGCAGTTGATGGGATGAATAGGGTTCCAGTCTCATAGCAGTTCTGTGCCACACATTGAACTCTGTCATTAACTGTGCCCTTGATCTTGCTCTTCCTGTTACTCCATCCTTTCTCTAGGTACTCGTCCTCACAAGTGCCCAGACTGCGACATGGCCTTTGTGACCAGTGGAGAATTGGTTCGGCATCGTCGTTACAAACACACCCACGAGAAGCCATTCAAGTGTTCCATGTGCGATTACGCCAGTGTAGAAGTGAGTGTTCAGCTTTTTGTTGGTATCTCTCTTAGGCAGACCATGATTTATTTCAATACAAAGCTATAACTACTACCCAAACGGACTTAAGATGAGGTAGAAAAATGTTAGTAAATTATTAACACTCCCACACAACACCGCTCCCCCAAAAAACTTATGATGATTGTGAAAGATTTACTTGTTAAAAAGAGTCAAGTTTCTGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCGATCTGTACTAAAAAATAAAAAATTTAGGCTGGGCCTGGTGGCTCACAGCCTATAATCCCAGCAGTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGAGGCAGAGCTTGCAGTGAGCTGAAATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCTCCATCTCAAAAAATAATAATAAATAAATAAATAAATATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTTAAAAAAGAGTACCAGTTTCACATGTTAATACAGGCAAATTCTGTCAAACTTTGAAGAAAAAACTGTACCCAGAGCATTTTAAAATGGTAGGTTTATCAATTTTATTATTTGAAGCTACACTGTTACCAAAACTGGGTCAGAAAACTACCAAAAAGAAAACTTACCCTCAGAGAGAAGCAAAAATTCTAAATGAAATTATTAGCCAATGAGCCAACCTAATTTAGTAATACGTTCTAAAAATAAGTGATACTGAATATATCTGAAACACAAAGATTGTTTATCATTGGGAAATTGCTGATGTATATTACATTGAAGGATTGAAGAAAAACCATATTATTTCTGTAGATGGGATGGGAGCTAAAATTCAGTAATCATTAATTACTGTTTAATGTCCTAGCAAGTTACGTATAGGAGAAAACTTCTTTAATATAATGTGTTTAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGTTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGACCAGTGTGGCCAACATGGTGAAACACCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGCAGCATGCGCCTGTAGTCTCAGCGACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGAAGGTTGCATTGAGGCAAGATCGCACCACTGCACTCCAGCCTGGGTGATGAGTGAGACTCCCCCTCAAAAAAATTTTAAACAGCATATATACCAGAAATGTATAATAAACTCATCCTAATTAATTCTGAAACATTGAAAGTATTTCCATTAAAATCTGGAATATGACAAGATATTCATTCTTAATGTTACTGTTTCAGCTTTGTACTGGAAATCCTAGCTAATCGAATAAAGCAAGAAATGAATTATTAATGGAAAGATAAAACTGTTATTTCTTGCAGAGAGATTTGCTTACAGAGAAAATCTAAGAGTATCAGAACAAAAACTTAGAGCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAA
TGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCACTTAAACCCAGGAGGCGGAGGTTGCGGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCGGTCTCAAGAAAAAGCCAGGCATGGTGGCCCATGCCTGTAATCCCAGCACTTCGGGAGGCTGAAGCAGGCGGATCACAAGGGCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATAGAAAAAAAAAATGTTAGCCAGGTGTGGTGGCATGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTACTTCAACCTGGAAGGTAGAGGTTGCAGTGAGCCAAAATCATGCTACTGCACTACAACCTGGGCGACAGAGCAAGAGACTCCGTCTCAAAAAAAAGAGGATGGGCCTTGAGTGAAGGGATGTAGGTGGTCATGTGGCACAGCCTAATGGAACTCCCTGCCCCACAGCAGTGTCCACTTCTTTGCTAATTGCCACGCTTATGCAGGCCTTTCTCTGCCCTGGATAGTACTAGGTAAACACGAGCATTTATTTTTTAGCTTACTTTGTTCTAAAAGAAGACCAAGCATGGTGGCTCACAACCTGTAATCTCAGGACTTTGTGAGGCCGAGGCCGGAGGATTGCTTGAGCCCAGGAGTTTGAGACAAGCCTGGGCAACGTGGCAAGACTCCATCTCTACAAAATAGAAAAAATTAGCCAGGCATGGTGGTGCAAGCCTGTAGTCTCAGCTACTGGAGAGGCTGAAGTAGGAGGATCACTTGAGCCTGGGAAGTCAAGGCTGCAGTGAGCCTTGATCCTATCACTGCACTCCCACTGGGTAACAGAGGAAGACCCTGGCTCAAAAACAAAAAACGAAAAGAAAATTGGATGCCACTTTTCTTCTCTTGTTAATTGTTTTACTTCTTATCCATACCACCAGACTATACACTTTCACAGGAAGAACTCTGTGCTTTACCGTTAGATCCATAGTGGTTCTAAAGAATCGAATGAACAAATGAACATTCCTTGGAATTGCTTAGTTTTTATTATACTCCAGTCACTCTTCCTCTCCAGCATTCTCTTCATTCTCAAAGAGAATCATTTCTGCAGATGGCTGGTTCTATTCATTACATTGTGGCTCTTCCTAATTGTATCCTCAAAGGCAGCCTTCCTTTGGTTTTAGTGTTTGATACTACCTTGCTGTCACCCCTTACCTGCTGCCCACAATTACAGATGGTCACTAGTCTGTGAAACTAGCACTGCATTGTGCTCTCAGTTTTGTCTCTAAGATTCCTTCAGTGAAAGACAAGAAATGTAGAGAGTATATTATTCATGTTTTATATTGGATGAATTGACATTCAGAATGATCACAGCATATTAGACATGGATGTTTGAAAATCATTTGTTTAAATCACATAAAAGGAAATACTATGTAAAGCCTGTGATAAGCCTCTGAAATTCCTTATCAAGACAGATACATGTGGAAAACAAGTTATATGTTTGTGTTTTTAAAAGAAAGTTGCAGAATATGGACAGCCCAATGGCCCTATATTTATAGTCATAATACAACGAGATTTGAGAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCTTAGCCTCCCAGAGTTCTGGGATTAGAGGCATGAGCCACCAAGCCCGGTCTCTATTAACTTTTAATCCATAATGACCAGGATATTCACAAAATAGGAATAAGAAGGTTTTTATTGTATTCAAAGGCAGCGGATTCAGATGGGTAATTAAGAGAAACTAATTTGGTATGTGTTATAATATCCTGGTGTTAGTATAAATTCATCCAGGCCCTCCCATAGTTTTCGGAGCTGACTTTTGTATCTGCTTTCAAGCTACTGCAGTTGATGGGATGAATAGGGTTCCAGTCTCATAGCAGTTCTGTGCCACACATTGAACTCTGTCATTAACTGTGCCCTTGATCTTGCTCTTCCTGTTACTCCATCCTTTCTCTAGGTACTCGTCCTCACAAGTGCCCAGACCGCGACATGGCCTTTGTGACCAGTGGAGAATTGGTTCGGCATCGTCGTTACAAACACACCCACGAGAAGCCATTCAAGTGTTCCATGTGCGATTACGCCAGTGTAGAAGTGAGTGTTCAGCTTTTTGTTGGTATCTCTCTTAGGCAGACCATGATTTATTTCAATACAAAGCTATAACTACTACCCAAACGGACTTAAGATGAGGTAGAAAAATGTTAGTAAATTATTAACACTCCCACACAACACCGCTCCCCCAAAAAACTTATGATGATTGTGAAAGATTTACTTGTTAAAAAGAGTCAAGTTTCTGGCTGGGTGCGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCGATCTGTACTAAAAAATAAAAAATTTAGGCTGGGCCTGGTGGCTCACAGCCTATAATCCCAGCAGTTTGGGAGGCTGAGGTGGGTGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGTGTGGTGGCAGGCACCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGAGGCAGAGCTTGCAGTGAGCTGAAATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCCTCCATCTCAAAAAATAATAATAAATAAATAAATAAATATTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCAGTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTTAAAAAAGAGTACCAGTTTCACATGTTAATACAGGCAAATTCTGTCAAACTTTGAAGAAAAAACTGTACCCAGAGCATTTTAAAATGGTAGGTTTATCAATTTTATTATTTGAAGCTACACTGTTACCAAAACTGGGTCAGAAAACTACCAAAAAGAAAACTTACCCTCAGAGAGAAGCAAAAATTCTAAATGAAATTATTAGCCAATGAGCCAACCTAATTTAGTAATACGTTCTAAAAATAAGTGATACTGAATATATCTGAAACACAAAGATTGTTTATCATTGGGAAATTGCTGATGTATATTACATTGAAGGATTGAAGAAAAACCATATTATTTCTGTAGATGGGATGGGAGCTAAAATTCAGTAATCATTAATTACTGTTTAATGTCCTAGCAAGTTACGTATAGGAGAAAACTTCTTTAATATAATGTGTTTAGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGTTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTGACCAGTGTGGCCAACATGGTGAAACACCATCTGTACTAAAAATACAAAAATTAGCTGGGCATGGCAGCATGCGCCTGTAGTCTCAGCGACTCGGGAGCCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGAAGGTTGCATTGAGGCAAGATCGCACCACTGCACTCCAGCCTGGGTGATGAGTGAGACTCCCCCTCAAAAAAATTTTAAACAGCATATATACCAGAAATGTATAATAAACTCATCCTAATTAATTCTGAAACATTGAAAGTATTTCCATTAAAATCTGGAATATGACAAGATATTCATTCTTAATGTTACTGTTTCAGCTTTGTACTGGAAATCCTAGCTAATCGAATAAAGCAAGAAATGAATTATTAATGGAAAGATAAAACTGTTATTTCTTGCAGAGAGATTTGCTTACAGAGAAAATCTAAGAGTATCAGAACAAAAACTTAGAGCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAA
Task1_train_22811
Given this context: Chromosome 16, gene CTCF (CCCTC-binding factor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAATGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
Task1_train_22812
This genomic variant is located on Chromosome 16, within the CTCF (CCCTC-binding factor) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Inborn genetic diseases
GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
GCAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAATGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCT
Task1_train_22813
Given a variant located on Chromosome 16 and affecting CTCF (CCCTC-binding factor), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; CTCF-Related Neurodevelopmental Disorder
CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACATCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
Task1_train_22814
Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
CAATAAGAGTTCAGTTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACATCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTC
Task1_train_22815
Gene CTCF (CCCTC-binding factor) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAG
TTCACTGGCCGGATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTGATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAG
Task1_train_22816
This gene mutation involves CTCF (CCCTC-binding factor) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
Pathogenic; not provided
ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAG
ATATAAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGTGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAG
Task1_train_22817
With a mutation on Chromosome 16 in gene CTCF (CCCTC-binding factor), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCTGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
Task1_train_22818
Assess the clinical impact of this variant on gene CTCF (CCCTC-binding factor), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Inborn genetic diseases
AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
AAGATAAGCATACAGAAATCAGTAACGTCAATAGTGATAGGAAGGTATGAAATGGATTCTAATAGCAATAAAATAACTGAGGGATAAACTGAACAACAAAAAATATCTATGAAATGTACATGAAGAAAACCTCAGTAACTTTTCCAGAGGACCTGAATAAATGAAGAAACATTACAAGTTGATTCTAACTTTCAACTGGAAGAATAAATATGAATGGCTAAGAAAAATTTGAAAATAGAATGAGGGGCTTGTGCCATTGGATTTTGTAAAACTATAGTAAATGAAGCCAGTGTGATATTGCAGTAGGAATAGATAGCTCATTGGAACAGAGTAGGTTCTGGTACATATTGAAATTAACAGGTTAAATAGGGAAATCTTGAAGGAAAAGAATTAGTAACGCTGTTAGGATAGTTATCGACTTATGTGTGTGAAAACTTGGTGTGTAACACTTATGAGTGGGGCCAGGCGCGGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCTGAGGCGGGTTGGTCACCTGAGATCAAGAGTTTGAGACCAGCCGGGCCAACGTGGTGAAACCCCGTCTCTACTAAAAATACAGAAGTTAGCCAGGCCTGGTGGCGTGCGCCTGTAGTCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGACCCTGGGAGGCGGAGGTTGCAGTGACCCACAATCGTGACAGTGTACTCCAGCCTGGGCAACGGAGCGAGATTTCATCTCAAAAAAAACCAAAAAAAACTCAGAGACATTTATGAGTACAGTGTTTTTTTGTTTTTTGTTTGTTTGTTTCCTTAAAATTGGGATACTTTTTAAATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCTGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGC
Task1_train_22819
A mutation in CTCF (CCCTC-binding factor), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCGAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGCATACCACCATGCCCGGCTAAATTTTTTTTTTTTTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCAGCCCTCACTTGCTTTTTTTTGTGACAAAGTTTTGCACTTGTCACCCAGGCCAGAGTGCAGTGGCCTGATCTCTGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTCTTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGCCCGCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCTGCCCTCATTGGCCTCCCAAAGTGTTGGGATTACAGGCGAGAGCTGCTACACCAGATCCCCTACTCCTATTTTCTTATAACCTCTAATTTTCCTTCTTTTTTCTCTCCCCTCTTGGTCTCAGTAAATGACTTCTCTTCCTACTTAAAAAATAAAGACAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGCTTAGGAGTTCCGGAGCAGCCTGGGCAACATGGCAAAACTCCATCTCTACCAAAAATACAAAACGGTTGTGGTGAGGTGCACCCTTGGTTCCAGCTACTCAGGAGGCTGTGGTGGGAGGATCACTTGAGCTTAAGAGGTAGAGGTTGCAACGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGAGAC
ATTTTTCAAAACAAACATTGAAACATTAGTGAATGTTCAAAACGCTTTTTGGAGCAGGGGGTGCGTGGCAGACAGGGTCTCTCACTCTGTCGCCCAGGCTGGACTGCAGTGGCGTGATCATGGCTCACTGTAGCCTTAAACTCCTGAGCTCAGGTGATCCTCCCACTTCAGCTGCTCCTCACGTAGCTGAGACTACAGGCATGTGCCATCACACCCAACTAATTTTTGTATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAGCAATCGCACGCCTTGGGCCTGCCAAAGTGCTGGGACTACAGGTGTGAGCCACCGTGACCTGCCCTCAAAGCACTTCATAGAATCAAGTTTGAAAGTCACTGTTTTAGTATAAGGTATCCTGCAGGGGACTAAAGGATGGATAATGGTGAGGATGATAGAAGAGAGGCCCTTCGAGCCTGGCCTGTCTAGGAAACGCTAATGATAGGAAAAGAGGATGAGTGGAATTAAAATATGTACTCAGTAACACAGGATTTGGAACAAATTGATCTGTAAATAGGCATGGATTATTTTTAAACTATTATGGAAAATTTCAAACATGTAGAAGTAAAGATTGTAATACATCCTCATGTGCCTACCACCCAGCTTAAACAGTTACTAGTAATGCGCAGTCTTTTTTTTTGAGACAGAGTTTCGCCCTTGTCCAGGTTGGAGTGCAGTGGCACGATCTCGGGTCACTGCAGCCTCCACCTCCTGGGTTCAAGAGATTCTCCAGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCGTGTGCCACCATGCTTGGCTAATTTTTGTATTGTTAGTAGATACGGGGTCTCACCATTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGATGATCTGCCCACCTCAGCCTCCCAAGTAATGACCAATCTTGGCTTATCTATACCCGTATTCATTTACCCACTTCTCTTAGATAATGATATGGATTCGAGAAGCAAAGTTTACAAATAATGAAGAGGGAAGAAGGTTATCTTTTAGACTTCTGTATTCTGAACTTCAGTGCCCCAAAGCTAAGCTTTTGTGCCTAACCTACTGTGCTCTTGTTACAGTCTGTGTTAACAGAAGTTAAAGTTCGGTTGTTTTCGTATTTCAGGTCAGCAAATTAAAACGTCACATTCGCTCTCATACTGGAGAGCGTCCGTTTCAGTGCAGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAAAAGGCACATGAGAACCCATTCAGGTAGGACTTCTCCACTCCTTACTGTATTAATGAGCTTCTTTTCAGTGAATCCCATGGGACCCTGTGGACCACTGTGTGTCCCCATTGTTTATATGAATGAAGACTGGCATGAAAATAGTATGGAATTGATAATGCTTCTCCGGCATATCCTCTGAATTCGTTGTTCAGAAAACACATTAGAAAATAGTACCTTTTGTTTTGTTCAACTTGAATCTGCCTACAACAAGAAAAATTTTAAGGGAGAAATTAAGTTAAAATGGACAGATTTTAATTTTAAAAGTCTGGGTAGATTTCCTAACCTACCTTATTCAGTTTTCCTGGATATTGTCTTTTCCTAAAAAGAAAAACTTGTGGGTTCTCCATTCAGTCTCCCCCAAAGGTAAGCATTGCTGTAATGTGGAGGATTCCAGAGTAGAGCTGGGCAGAGCAGAGGTGGCCAGCAGCAGTTTAGGACTTGGCCATATCTGAAGATAGACAAGATCCGGGAACTGGGACTGAGCCTCAGCCTTCCTAAGACCTGTAGATTCTCTGTGGTGTAGCATATCTGCCACCTGAGTTACCCTCCAGTTAAATTACAGTATTTATTCATTTCATTTATGTGTTCATTCTGTATTTTCTTTAAAGGGGAAAAGCCTTATGAATGTTATATTTGTCATGCTCGGTTTACCCAAAGTGGTACCATGAAGATGCACATTTTACAGAAGCACACAGAAAATGTGGCCAAATTTCACTGTCCCCACTGTGACACAGTCATAGCCCAAAAAAGTGATTTGGGTAAGTAGATTAACTAGTGAGAAGTGAAAAAAATATTTTGAAGGATTTATATTTCGAAATATGGGGATCAAAAATAACTTCACCTTCTGACTCTCATAACATTTTATGTATAGGAATGGCCTGTCACTTAGTTTAGTAAAAGCCATTGCTTAGCTGCTTTTTTTTTTTTTTTTTTTCTATTTCTTCCTTTTCTTACTGTAGTCAGGCCACAAGATTCTGTCCTGAGTAAAACTCATCTATAAATTAATGGGAGCTGTGATGGGAGGAGACAGAGTACACCTTTAATTAGTAGCCTTCCTTCCCCAAATAGGAAAGTAACATAGTGTGATTCAAACTCAGGTCATTCTATTGTATTTTTTTGAGAACGTCTGTACTTTCTCTAGGTAATGGGACTGTTTTATTGGTTTAGTGGTAACTGTATTTCTGTGCATAGTTAAACTAGAGTTTACATGCAGCCGGAGTTTATTAATAATATTTAGTGTAGGCCGGGCGCGGCAGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAACGCGGGTGGATCACGAGGTCAGGCGATCGAGACCATTCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCAGAGATCACGCCACCGCACTCCAGCCTGGGTGACAGAGCGCGACTCTGTCTCAAAAAAAAAAAAGGTAACGAGTAAAAAGTGAGAGCCATCCTCTCCCTTACCTCATATCTACTCCCAATAATTAGCTCTCTTTAAGTTTAGTGGGATATCACCTCAGTTGATACAACTTGTAGTACCGTAAATACATAAATTCATGATCCCAAATGTAGCTGGGCCCTCACTGCTCCTAGCTGTTCCAGCTGTTTGTTCTTGTCAGGTGTGCTCCAGTTCTTTATGAGTGAGCGAATTCATTCCACAGTGTTTGGTGCTTATATAGAGTTGGGCAACCTACTCTTACTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTCCTCTCGTCACCCAGGCTGGAGTATGATGGCATGAACTCAGCTCACTGCCACCTGTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTATAGGCGCATACCACCATGCCCGGCTAAATTTTTTTTTTTTTTTTTTTTTGTATTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACCGCGCCCAGCCCTCACTTGCTTTTTTTTGTGACAAAGTTTTGCACTTGTCACCCAGGCCAGAGTGCAGTGGCCTGATCTCTGTTCACTGCAACCTCCGCCTCCTGGGTTCAAGCTCTTCTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGCCCGCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGCTCTCGAACTCCTGACCTCAAGTGATCTGCCCTCATTGGCCTCCCAAAGTGTTGGGATTACAGGCGAGAGCTGCTACACCAGATCCCCTACTCCTATTTTCTTATAACCTCTAATTTTCCTTCTTTTTTCTCTCCCCTCTTGGTCTCAGTAAATGACTTCTCTTCCTACTTAAAAAATAAAGACAAAGGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCATTTGAGCTTAGGAGTTCCGGAGCAGCCTGGGCAACATGGCAAAACTCCATCTCTACCAAAAATACAAAACGGTTGTGGTGAGGTGCACCCTTGGTTCCAGCTACTCAGGAGGCTGTGGTGGGAGGATCACTTGAGCTTAAGAGGTAGAGGTTGCAACGAGCCGAGATCGTGCCACTGCACTCCAGCTTGGGTGACAGAGAGAC
Task1_train_22820
This alteration occurs within gene CARMIL2 (capping protein regulator and myosin 1 linker 2) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency
ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTC
ACCATTTACCATCGCCAGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCAGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTC
Task1_train_22821
Given a variant located on Chromosome 16 and affecting CARMIL2 (capping protein regulator and myosin 1 linker 2), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Chronic colitis
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
Task1_train_22822
Gene CARMIL2 (capping protein regulator and myosin 1 linker 2) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Combined immunodeficiency
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
Task1_train_22823
A mutation on Chromosome 16 affecting CARMIL2 (capping protein regulator and myosin 1 linker 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Severe combined immunodeficiency due to CARMIL2 deficiency
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAACGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
AGGGCTGCCGCCATTTCAGCCTGGGAGACTTCAGCCACCTCGGCAGTCGGTGTGTGGCCTGCCAGGATGGGAGAGGAGGAAGATCCCGGGGCCCATATCCCTGGGCCTCAGTTTCTCCATGGAGGGGCTGCTGGGCCTGGGACCTGGCTGGAGGGCCCTGAGCTCTGCCTCTGTTCCCACCCTCCCACCAGGGACCTGGCCTTGAGTGTGGCTGCCCTGTCCTACAACCTGTGGTTCCGGTGCCTCTCCTGTGTGGACATGAAGCTGGTGAGGGGGTTCGGGGTAAGGGCAGGGAGGGGCCAAGGGTGTGGGCCAGGGTGCAGCCCGCTGAGGGCCAGGGTGCAGCCCGTGAGCCGCCGCCCTCTGCTTCTCAGAGCCTTGAGGTCTCAGAACAGATTCTGCACATGATGAGTCAGTCATCACACCTGGAGGAGCTGGTGCTGGAGACCTGCAGCCTGAGGGGGTGAGGGGGACAGGGCAGGGCTTGGAGAGGAGAGTCTGGAGGCTTGGGACTGGGGGCTAGTGGCCTGGGAGGGGTTGGCAAACCAGGGGCAGAATCTCATGCCTGGGGTCTGGTCCCCAGAGACTTTGTCCGACGACTGGCCCAGGCGCTGGCGGGACACTCAAGCTCTGGGCTGCGGGAGCTCAGCCTCGCGGGGAACCTGCTGGATGACCGAGGTATGACTGAGCCTGGGGACCGCAGGGGTGGGCAGCAGGAGGAGGTGAGACCCACGTGGCTGTTCCCACCCCCCAAGGCATGACTGCACTCAGCAGACACCTCGAGCGTTGTCCAGGAGCCCTGAGGAGACTCAGCCTGGCCCAGACAGGGTTGACACCGCGAGGTAGGCTGGATGAGGGAGGGGGTGAGGGGAGGGGGGTGGGGGTCTGTCCAACTGCTGAGTGACCCCGACCCACCACCAGGAATGAGGGCTCTGGGCCGGGCACTGGCCACCAATGCCGCCTTCGACTCCACCCTGACCCACCTGGACCTTTCTGGGAATCCTGGGGCGCTGGGGGCCTCCGAGGACAGTGGGGTGAGTGGCTGTCTTCAGGGTGGGAGCTTGGGGTTGCTCATAAGCCCTGGGTAGGCGATCCCCCACTCCATCGCACCCCTGTCCTCCCTCCAGGGCCTCTATAGCTTCCTGAGCCGTCCTAACGTACTGTCGTTCCTGAATCTCGCAGGCACCGACACTGCCCTGGACACTGTGAGGGGGTGCTCCGTGGGGGGATGGATGACCGGCAGGGCGGACTGGAGGGCGGGACGGGGAGGGCTCGGTCCCCCCGCGGGTGTAGCCAACAGCCTCCCCCCGCAGCTCTTCGCAGCGGTATCCCGAGGCTGCTGCACCAGCCTTACCCACCTCGACGCTTCGAGGAACGTCTTCTCCCGCACGTAAGGGGGACCTGTCGGGGCCGGGGGAGGCTGCTGGAAGCCGCCTCCTTGCGGCCCCAGGCCCACCTTCCCACTTCCCCCAGGAAGTCCCGCGCCGCGCCGGCCGCGCTGCAGCTCTTCCTCAGCCGCGCGCGGACGCTGCGGCACCTGGGCCTGGCGGGCTGCAAGCTGCCGCCCGACGCGCTCAGGTCAGTGTCGGACCCCGGCCACGCCCCCGCGGGCGCTCCCACCCTGCCCTGGCCTTCGCCCCTCCCCGCTCCTGCTTCTGTCGCTCCCACAACCTCCCCCAGATCCTGGCCCTGCCTCCTTCGTTCGCACCCTGGAGCCCCCTGTCCCAGCTCCCGCCACCCCGTGTAACGTCCTCTCCCAGAGCCCTTTTGGATGGCCTCGCGCTCAACACGCACCTCCGCGACCTGCACCTGGACCTCAGCGCTTGCGAGGTGAGCGCCGGCCCCCAGAAGAGACCACACATTGGGAGAGGCGCTGGGAGGCGGAAGGGCAGGGCCGTGGGCCGCCTGCCCCTCCCCACTCGCGGCCTAAGTGGGTCCCACTTCCCACCTCCCACCTCCCACATACAGCTGCGCTCGGCCGGCGCCCAGGTGATACAAGACTTAGTGTGCGACGCAGGCGCTGTGAGCTCCCTGGATCTGGCGGATAAAGGTGAGGCTGCAGGAGAGCCCATCCTCGCATCATCCACTCGATTCCCAATCCCCACCCTACCCTTGCAACTTCGCCTCGTGCGTGACCCGAGTCACCCCCAGGCTTCGGCTCAGACATGGTGACTCTGGTGCTGGCCATCGGGAGAAGCCGGTCCCTGAGACATGTGGCGCTTGGAAGGAACTTCAACGTCCGGTGCAAGTGAGCCCCCACCCTACTCCTGGGCCTCCCAGACAACACCCCACCACCCCTGTCCCCCACAACTGCGGCCCCTGCCCACAGGGAGACCCTGGACGACGTCCTGCACCGGATTGTCCAGCTCATGCAGGACGACGATTGTGTGAGTTCACGGGACCTTGCAGGGCCTCGGGCAATTAGACCACTTTGGTCCTCCTTTCTCTTGTTCCCTCAGACCCTGTGACCTGCCCTCACTGACCCCTGACTCCAGCCATCAATGGCTTTCTCTTAACCCCAGCCTCTTCAGTCTCTGTCGGTGGCTGAGTCTCGGCTGAAGCTGGGTGCCAGCGTCCTACTCCGGGCCCTAGCCACCAATCCTAACCTGACCGCGCTGGATATCAGCGGCAACGCCATGGGGGACGCGGGCGCCAAGTTGCTGGCCAAGGCGCTGCGGGTCAACTCGAGGCTCCGGTGGGCGGGGTCAGAGGGGTGGGACCAGCGGGCAGGGGGCGCGGTGGAGAGGAGGGCACCGGGCTAAGGGGAGGGACTGAATGAGGCGGAGCAAATGGAGCAGGCTGACGAGGCGAATGGACTAGGCCGAGGGTTGGGTGGGGCGTTGGGAAGCTCCGTCCCCGACTGAAGCCAGGCCCGGCCCAGGTCTGTGGTCTGGGACCGGAACCACACATCTGCTTTGGGTCTGCTGGACGTGGCGCAGGCGCTGGAGCAGAACCACAGCCTGAAGGCCATGCCTCTGCCACTGAACGACGTGGCCCAGGCGCAGCGCAGCCGCCCGGAACTGACAGCACGTGCAGTCCATCAGGTGGGCGTCCCCCTCTTCCCTTGCCCTTCTCTGCACGGTAACTCCGTCCCTCGGCATTTCTCAATACCCCTTGCCCCTAGATCCAAGCCTGTCTCTTGAGGAACAACCGCGCAGACCCTGCCTCTTCTGACCACACGACCCGCCTTCAGCCACTTGGTCTGGTCTCAGACCCCTCAGAGCAGGTCAATGTCCCCTCCCCAACCACGAGAGGTAGGGCATGAGGAGACCTGTGGCATCCGGGAGCCTCCATGAGTCAGAGGGTCTGACTTTCCTGGGGCCAGGGTGCCTGAGCCCTGCTGTCCCACACAAAGTCCCTCTCCTTGATCTGGAGGCGGCTAAACACCCCTTAAATAGCTCTCCAAATAACACCCTTGGCTGCCTAACGTTAAGCCTGTAAACAGGCTGTCCTGTTAGAGAGGAATTTTTATGTCCTTCCTCAATTTTCCCCCAATTGTAGCCCCATCTCTGTCCTCACATATACGTGACTCCCCTCCCCTCTCCATTGTGTGCCCAAACCCAGCTGCTCCTTCACTGTCTTCATCTCCCTCCACTACCTTATCTGTTGGAGATGTTTCTACCTCTCCATTCCCAAATACCTCTTCTTTCCTAAGCTTCAGAGCCCAAAGGTCTTAATCCAGACATCCTGCTGGGCTTCATGCTCTGCACTTCTCCAAGTGATGTCATCGTCGCTCACAAACCCTGTTGTCTACCCTGGAGCCCAATCCCACTGGTGCCCACAGCCACCCAGTGCTGTGGACAGAGGTTGGGGCACCCTTCCAGGTCTCTCCTGGTCACACTGGAGCCCTCATAGGCCTCCTTCGTCCTGCCTCTAGACCAACCTTCATACATGCCACTCCTTACCCCCACACCAATTATCCCTTGCTCCTCCTGGTCCCTCCTCCAGGGCTACTCACTCCCTTTTCTACCCCTCTCTCAGTCTATCCTCTGTGTGGACAGACTGAGCTTCTAAAACACAGACATGATTTACAACTCCTTTCCTTCCTATTCTGGGCACTTAGGAAGTGTATATAAAGTCCTTAAAATGAACCAAA
Task1_train_22824
A variant affecting Chromosome 16, within the gene PSMB10 (proteasome 20S subunit beta 10), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Proteasome-associated autoinflammatory syndrome 5
AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTAGGCTACAGCCTGGGGACTTGCCTGTCCACTTACCCAATCTGGTCTTGCCCTCCAAACCCCCACTGTGTTTCTCCCTCTGAGCCTTAGCCACCTCTGAGGCAACATCACCTGCTTCCATCCCACCCCAAACAAAATCTAGGCTCCAGACGTTGATATAAGTAGGACCCTACTGGTCCTTCTCTCCGCCCTCGGCTCCTAAAGATCCTCTGTGAGCTTCGACTTCTCCCAGCCGTGCAGGCTTTGGTATTGGACGGTGTTATGTCGGGACCGCACTTCTCTGCCCTTACTCCACTCACCCTTCAGTGGTCACCTCCTCCGACAAGCCTTAGCCACCCGCACTGGGCCAGGGTCCTGTGCTCCCCCAGCTCCCGGGTGCACATCCCACCAGCGACCACAAAGTCGGGGACAGAGGCCGCTCACCGTCATGTTCGGCTGGAACCGGTCTTCTAGCACCGCCAGGGCCGCGTCCTGACCAGAGCCTGAAGGCAGGAGAAGCATCTGAAGTCAACCGCTGCGACGCCGTTTGGAGTGAGGCCAAGGTCACAGGGGCAGAGTTCGAGGAGAAGGGACAGAAGCGCTCACCCAGGGCTGTGAAGGGCAGACGGCTGTAGGAGCCATGGGGATGCACACCGTAGAGCTGCGGTCCAGTCAGGTCTACGCCGCCCACGATCAGCGATGCACCCACGTGGCCCTGGTACCTGCTCGAGGATGGGCGGGGTCGGCCACAAGCTGGGGCCTAGGCCCCACCTCTCTATGCCCAGCTCCTAGGTGCTATCCCCGCCCCTTCCTGTGGGCTGGCGCCCGATGACTGACATCGCCTTTTCCTGTAGCCCAGGTTCTCTTGGGCCGGCCTCTTCCGGTCACCTGGCCCGTCGCGGTCCCGCCCTTCTTTCTGTCCCGCCTTCCAATGGCCCCAACCCCGTAACTACCCCTGCCGGGGTCCTGTTAGCCCTGCCCCCGCACCTGAAGAGCGTCTGGCGCAGGATGCGAGTGACCGTGGCCACGCGGGGCTCGCGGCCCGTAGATAACGCGTGTAGCTCCATCTTGGACGCCACCATCCGTGTGGTCATCTCGGCGTCCGCGGCTACTCCAGCCCCACAGCAGCTGAGGCAAAAGGGAGGATCGGTGTGGGCAGGGCTGGGACGTGCGGGGACCGGAGTGGGAACGAGGGGGCCGTTCTTTTTTGCGTACGGGAACTGGGCTCGGGAGTCTCACTAGATTTTGGGGGCGATGAAGTGGATCTTCTCGCAGCTCTTGTCCGCCACGACCGAATCGTTAGTGGCTCGCGTATCGGCGCCCAGAATGACCCCGTCCTGAGGAGAGGGAGGGACCGCAGCTTCAGTGCCTGCTCGATACTCTCGGCTCCCCTCCAGCTCCCCGTCCCTCCCCGCTGCTCACTTGGAACACCAGGCCCGCGATGGTGGTCCCGGTCTTGCGTGCGTGAGGGACCTTGAGCCCCGGGAGGACGCGTTCCAATGATGCATTTCTGGAAACGGAGGAGGGCGCCCATGTTTCGGCTCTGCTTTCAAGACCCCTGTTGCTTCCCCTAACCTGGTCCCCGTCTCCCTCATCTTCCGGGGTAAGCCTGGAACCCAAGTCGACCAACACACCCTCCCCCACCCCCAGCCAGGAAAAAAGGCCACGAGCAAGCAGAGGCGGCTCAGGAGTGACCGCCCCCCGCGCCCCCGCTTCACCTTTGGCAGTTCTCGAAGGAGAAGCCCCCTCGGGGCTCCAGGGCTGGCTTCAGCATCTTGGGGCAGGCAGAGGGGATTAGGGGTCGCGGGCGGATGAGTCGGCCAGACAAGCGGGGCCAGTGAGCAGCTAAAAAGTCCTCTGCTAGGCTTCACGTCTGTACTTCCTGCTTTCGCTTTCGCCTTTACCCTTCCTCAAAGGCCCGTGGCGGTTTTCTGCATCTTGTCTTTCACTTTTGGCTTCACTTGTGGCTCTGAGCATTTGGGGAACCGGGTGATGTCCCTTGCTGTGCCCTCTGTGCTGCTCACTGGGTACTCTGTTGGATAGAGGGACAAATCTCTTCCCTTCTGGACTTGTTCAGGTCCTCCTCCCCCTCCATCTGAGCCCCTTGCTCTTACCCTAGCCTCAACTCTGACCTCCAGTCCCAGCATAGTAAAGCTCTCAGAGCCTTGGCCAAGTCAGCATTGTTGCTGGCCACCCAGTAGCATCAGGCATAGCTGACTTTTGTTCCTTGTCACCTTTCTTCCAACTCTTGCCTCTTTTGTTGCCTTTACTCCTCTGCAAAAACCTCAAACAGAGGCTCAGTCCTCAGTCACAGGGACCCTGGTCTTTCCATCTTCCATCTCAGGTGCCATCTTCCCTCTCTCAAGAGGGCACCATGGGTGTTGGGTTCCACTCATGGCCAAGCCTTGTTATTTCACCTCCCCAGTGACCTCTTGTCTGCACACATCCTTTTCCTAGCACTTCTAGTCTCAGCTAGCATCCTCTCCCACCTGGACATTGCACTGGCCTCCCTGGTTACCTTGCAATTCTTGCCCCCCGCCCCCCGACCCCCAGGCTACTCCTTACCCTGCAGAGAGCGGGTCTTTCTAAATTGGAAATCTGGTCACATTCTTTCTCTGGTTTAAACCCTTCAGCAGTCTGGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGCCCAGGAGTTCGGGGCTGCAGTGAGTATGGATCATACCATTGCACTCCAGCCTGGGCAATAGACCCCGTCTCAAAGGGGGAAAAAAAAGACTTGGGTTTGAGGCTAAGAGCAGCACGCAGCTGCCAAAGGGTTTATCTTAATTTTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTCGGTTCACTGGAACCTCTGCCTCCCAGGCACAAGCACTCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA
AGCGGCCAGACCTGGGAGGGAGGAGGGACAGCCTCTGAACATGGGCCTGTCATGTGGCCCATCCCCTTTTTGCAGCCCCCTATCTCCCCTGCTATAGCCCCACACATCCCTGTGGTCCCCGATCTCCAGCTCTCACCTCTTCACGGGCTCTGTGGGTGAGCTCAGTGTCCGCAGCAGCTTGGCGCCAGTCTTTGTGATCACACATGCGTCCACATTGCCCCCGGAGCCCAGGTCACCCAAGATCCCGGCGGTGACGGCTTCCACCAGCAGCCCCTGAGCAGCCTCCAGCTGCGGTGATGGGTGTGTGAGACCTAACGGGCTCTCTCTGCTGTTAACTTAGGCTACAGCCTGGGGACTTGCCTGTCCACTTACCCAATCTGGTCTTGCCCTCCAAACCCCCACTGTGTTTCTCCCTCTGAGCCTTAGCCACCTCTGAGGCAACATCACCTGCTTCCATCCCACCCCAAACAAAATCTAGGCTCCAGACGTTGATATAAGTAGGACCCTACTGGTCCTTCTCTCCGCCCTCGGCTCCTAAAGATCCTCTGTGAGCTTCGACTTCTCCCAGCCGTGCAGGCTTTGGTATTGGACGGTGTTATGTCGGGACCGCACTTCTCTGCCCTTACTCCACTCACCCTTCAGTGGTCACCTCCTCCGACAAGCCTTAGCCACCCGCACTGGGCCAGGGTCCTGTGCTCCCCCAGCTCCCGGGTGCACATCCCACCAGCGACCACAAAGTCGGGGACAGAGGCCGCTCACCGTCATGTTCGGCTGGAACCGGTCTTCTAGCACCGCCAGGGCCGCGTCCTGACCAGAGCCTGAAGGCAGGAGAAGCATCTGAAGTCAACCGCTGCGACGCCGTTTGGAGTGAGGCCAAGGTCACAGGGGCAGAGTTCGAGGAGAAGGGACAGAAGCGCTCACCCAGGGCTGTGAAGGGCAGACGGCTGTAGGAGCCATGGGGATGCACACCGTAGAGCTGCGGTCCAGTCAGGTCTACGCCGCCCACGATCAGCGATGCACCCACGTGGCCCTGGTACCTGCTCGAGGATGGGCGGGGTCGGCCACAAGCTGGGGCCTAGGCCCCACCTCTCTATGCCCAGCTCCTAGGTGCTATCCCCGCCCCTTCCTGTGGGCTGGCGCCCGATGACTGACATCGCCTTTTCCTGTAGCCCAGGTTCTCTTGGGCCGGCCTCTTCCGGTCACCTGGCCCGTCGCGGTCCCGCCCTTCTTTCTGTCCCGCCTTCCAATGGCCCCAACCCCGTAACTACCCCTGCCGGGGTCCTGTTAGCCCTGCCCCCGCACCTGAAGAGCGTCTGGCGCAGGATGCGAGTGACCGTGGCCACGCGGGGCTCGCGGCCCGTAGATAACGCGTGTAGCTCCATCTTGGACGCCACCATCCGTGTGGTCATCTCGGCGTCCGCGGCTACTCCAGCCCCACAGCAGCTGAGGCAAAAGGGAGGATCGGTGTGGGCAGGGCTGGGACGTGCGGGGACCGGAGTGGGAACGAGGGGGCCGTTCTTTTTTGCGTACGGGAACTGGGCTCGGGAGTCTCACTAGATTTTGGGGGCGATGAAGTGGATCTTCTCGCAGCTCTTGTCCGCCACGACCGAATCGTTAGTGGCTCGCGTATCGGCGCCCAGAATGACCCCGTCCTGAGGAGAGGGAGGGACCGCAGCTTCAGTGCCTGCTCGATACTCTCGGCTCCCCTCCAGCTCCCCGTCCCTCCCCGCTGCTCACTTGGAACACCAGGCCCGCGATGGTGGTCCCGGTCTTGCGTGCGTGAGGGACCTTGAGCCCCGGGAGGACGCGTTCCAATGATGCATTTCTGGAAACGGAGGAGGGCGCCCATGTTTCGGCTCTGCTTTCAAGACCCCTGTTGCTTCCCCTAACCTGGTCCCCGTCTCCCTCATCTTCCGGGGTAAGCCTGGAACCCAAGTCGACCAACACACCCTCCCCCACCCCCAGCCAGGAAAAAAGGCCACGAGCAAGCAGAGGCGGCTCAGGAGTGACCGCCCCCCGCGCCCCCGCTTCACCTTTGGCAGTTCTCGGAGGAGAAGCCCCCTCGGGGCTCCAGGGCTGGCTTCAGCATCTTGGGGCAGGCAGAGGGGATTAGGGGTCGCGGGCGGATGAGTCGGCCAGACAAGCGGGGCCAGTGAGCAGCTAAAAAGTCCTCTGCTAGGCTTCACGTCTGTACTTCCTGCTTTCGCTTTCGCCTTTACCCTTCCTCAAAGGCCCGTGGCGGTTTTCTGCATCTTGTCTTTCACTTTTGGCTTCACTTGTGGCTCTGAGCATTTGGGGAACCGGGTGATGTCCCTTGCTGTGCCCTCTGTGCTGCTCACTGGGTACTCTGTTGGATAGAGGGACAAATCTCTTCCCTTCTGGACTTGTTCAGGTCCTCCTCCCCCTCCATCTGAGCCCCTTGCTCTTACCCTAGCCTCAACTCTGACCTCCAGTCCCAGCATAGTAAAGCTCTCAGAGCCTTGGCCAAGTCAGCATTGTTGCTGGCCACCCAGTAGCATCAGGCATAGCTGACTTTTGTTCCTTGTCACCTTTCTTCCAACTCTTGCCTCTTTTGTTGCCTTTACTCCTCTGCAAAAACCTCAAACAGAGGCTCAGTCCTCAGTCACAGGGACCCTGGTCTTTCCATCTTCCATCTCAGGTGCCATCTTCCCTCTCTCAAGAGGGCACCATGGGTGTTGGGTTCCACTCATGGCCAAGCCTTGTTATTTCACCTCCCCAGTGACCTCTTGTCTGCACACATCCTTTTCCTAGCACTTCTAGTCTCAGCTAGCATCCTCTCCCACCTGGACATTGCACTGGCCTCCCTGGTTACCTTGCAATTCTTGCCCCCCGCCCCCCGACCCCCAGGCTACTCCTTACCCTGCAGAGAGCGGGTCTTTCTAAATTGGAAATCTGGTCACATTCTTTCTCTGGTTTAAACCCTTCAGCAGTCTGGGCCTGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGCCCAGGAGTTCGGGGCTGCAGTGAGTATGGATCATACCATTGCACTCCAGCCTGGGCAATAGACCCCGTCTCAAAGGGGGAAAAAAAAGACTTGGGTTTGAGGCTAAGAGCAGCACGCAGCTGCCAAAGGGTTTATCTTAATTTTTTTTTTTTTTTTTTGAGATGGGGTCTTACTCTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTCGGTTCACTGGAACCTCTGCCTCCCAGGCACAAGCACTCTTCCACCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACACACCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA
Task1_train_22825
This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; LCAT deficiency
TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGG
TTTTTTTTTTTTTTTTTGGTAGAGATGGGGTTTCACCGTGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAGGCGATCCACCCTCCTCAGCCTTCCAAAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCACGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGG
Task1_train_22826
Consider a variant on Chromosome 16 in gene LCAT (lecithin-cholesterol acyltransferase). Determine its clinical classification and disease relevance.
Pathogenic; Norum disease
AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCATGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
Task1_train_22827
Given this variant in gene LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Fish-eye disease
AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
AAGTGCTAGGCTTATAACCATGAACCACTGTGCCTGGCCTATTTTACGGTTTTTTTTTTTTTTTTTTTTGGACACAGGGTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCATGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACT
Task1_train_22828
Assess the clinical impact of this variant on gene LCAT (lecithin-cholesterol acyltransferase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Norum disease
GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCATGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
Task1_train_22829
A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Fish-eye disease
GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
GTCTTGCTGTTGCTCAGGCTGGAATGCCGTGGCACCATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCATGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGC
Task1_train_22830
This mutation occurs in LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
Pathogenic; LCAT deficiency
TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCAC
TCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATCCTCCCACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCATACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCAC
Task1_train_22831
A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; LCAT deficiency
CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTC
CACCTCAGCCTGCCTAGTAGATTTGACTACAGCTGTGGCTACACCTGGCTAATTTAAAAATAAATTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGTGTGATCTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCATATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTC
Task1_train_22832
A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; LCAT deficiency
CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCA
CTTGGCTCACCGCAACGTCCACCTCCCAGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACTTCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCA
Task1_train_22833
A mutation in LCAT (lecithin-cholesterol acyltransferase), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; LCAT deficiency
TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAG
TTACAGGCATGCGCCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGGTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCACCAGGCTAATTTTTAAAATTTTTGTAGAGATGAGGTCTCACTATATTGCCCAGGCTTGTCTCGAACTCCTGGGCTCAATCAAGTCAAACCCAAGTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTCTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAACCCAAGTCTTTACAGTGGTCCATTACTCTTCTTGTCACTCTGACCTCAGTGTAGGCACTGCCTCCTCTGGGAAGTCTTTGCTGACCTGAAAGGCTCAGCCTCTTGTGCTTCCTAAGCTTTTCTCAGAGCATTTAGCTTCATTAGTAATTAAACTTCCATTAGTGAAATGATCTGATTAATGGTTGTCACTCCCAGATTTTAATTCTAACTTTTTTTTTTTTTTTTTTTTTTGAGACCCAGTCTCTTTTTTTTTGAGACAGTCTCATTCTGCCGCCCAGTCTGGAGTGCAACGACGTGATCTCGGCTCACAGTGACCTCCACCTCCCAGGTTCAAATGATTCTCGTGCCTCAGCCTCCTGAGTAGCTGGGACGACAGATGCATGCCACCACGCCTGGCAAATATTTTGTATTTTAGTAGAGACGGGGGTTTCTGCCATGTTGGCCTGGCTGGTCTCAAACTCCTGAGTTCAGGTGATCCGCCTGCCTCGGTCTCCCAAAGTGCCAGGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTAAACACTTGTGGCCCTGTCATTCACCCAGCACTCAAAAGGTCGTCTCACCTGCCCTTTTGGGAGCTGGGAGAGACAGCTCAAATTGTCACCGCCCCCCCACCGCCCCGTGCTCCTCTGACAGGGCTGTGGGTGGAGCCAGCTCCAGTCCCCGCGCCCAGCACAGAGGCAGGCACGGTGCACACTGCCTCAACAGCTCGACCAGGAGAGTGGGCAGCTGTACATCTAGGGTGCCCAGCTCAGTCCCAGGCCTCAGCAGAGCCCATCTTGCCTCACTGCACACAGCACTGAGCCTGTGGCTGGTGAGGAGTGAAACCTAGTGTGGGACTCTAGTGCCTCCCTTCAACCTGAAACATAGCCATCAGGGCTTACGGTAGCAAAGGAAGGTCTTTATTCAGGAGGCGGGGGCTCTGGGCTGGCAGTCGGGGATGCAGGGGGACCCTGGCGGTAGGCACCCAGCAGGATGGCATTGATGTGCTCCAGGGTCAGGTTGCTGAAGACCATGTTGAGATGCTGTATCCCGTGCAGGGGCAGCAGGTGCACAGGCTGTGGCTGGCGGCCCTGCCACAGGCCACAGAGCTCGGTGCTGCGGGTCGCCACCGTGTCATCACCATCCTCATAGAGCACACCCACAGGGTCCGTGTAGGGGAAGCCGTGGTCGTAGATGTAGGTGCGGGGCGTGGGCAGGCCCACGCCGTAAAGACAGTATACTTCCACACCAGGTGCTGGGAGTCCTGCCAGGAGGTCACGTGACTGCAGCCACATGTACCAGCCTTCCTCAAAGTGCAGGTCTGCAAAGAAGCGTTGGAAGTCACGGCCTGTGTAGTTGAAGCTGGGTGTGGAAATGAACACGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGTTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAG
Task1_train_22834
A variant has been detected on Chromosome 16 in LCAT (lecithin-cholesterol acyltransferase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; LCAT deficiency
CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCC
CGTGGTCCTCAGGCCACGCCATGCGAGAGGGAAACATCCAGGGGGAGGTGGTGGTTATGCGCTGCTCCTCTTTCAGCTTGATGCTGGACATGATGGGGATGCCCTGGTTGTCACCTGTGGATATGGAGCAAGGTGGGACAGGGAGCCAGGCCTGGCTACCCCTGGCCCACAACCTGCTGAGTGTAGGCTCAGCCAGATGCTCAATCTTGTCCCTGCCCAATCTAGACACAGACTCTAAGCCACAGGCTTGAGCAGGCCTGATATTCAATGATGCTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAGGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCC
Task1_train_22835
This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; LCAT deficiency
CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGG
CTCAGTGTCAGCTTACTCAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCGGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGG
Task1_train_22836
This variant affects the gene LCAT (lecithin-cholesterol acyltransferase) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; not provided
CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGG
CAATGAGAAGCCCTGATAAGACCTCTGTTGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGTGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGG
Task1_train_22837
Here is a variant affecting LCAT (lecithin-cholesterol acyltransferase) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Fish-eye disease
TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCA
TGGGTGGAGCTGTAGGGCTTCAAAAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATCGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCA
Task1_train_22838
Located on Chromosome 16, this mutation impacts LCAT (lecithin-cholesterol acyltransferase). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Fish-eye disease
AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTATGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
Task1_train_22839
A genomic change on Chromosome 16 affects LCAT (lecithin-cholesterol acyltransferase). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Norum disease
AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
AAGGATGGCAGGGACAGGCACCATGGCTCACCCCTGTAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTCCGTGACCAGACTAGGCAATGCAGTGAGACCCTGTCTCTACAAAAAAAAAAAAAAAAAAAATCAGCTGGGCTTAGTGGAGTGCACCTCTAGTCCTAGCTACTCAGGAGGCAAAGGCAGGAAGATTGCTTGAGCCTAGGAATTTGAGGTTACAGTAAACTATGATCGCACCACTGCACTGTAGCCTGGGTGACACAGTGAGATTCCAGCTTAAAAAATAAATAAATAGGGCCGGGTACGGTGGCTCACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGGCAGATGACTTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACCTAATCTCTACTAAAAATATAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTGATCCTAGCTACTAGGGAGGCTGAGGCAGAAGAATCACTTGAACTGGGGAGATGGAGGTTGCAGTGAGTGGAGATTGCACTACTGCACTCCAGCCTGGGAAACAGAGCGAGACTCCATCTCAAAATACATAAATAAACAAATAAACATTTTTTAAAAGGCCCAGCACAGTAGCTCACGCCTGTAATCCCAGCACTTCGGGAGGCTGAGGCAGGAAGATCACTTAAGGTGAAGAGTTTGAGACCAGCCTGGGCAACATAGCAAGACCTCATCTCTACTAAAAAACAAAAATAAATTAGGTGTGGTGTTGTGTGCCTATAGTCTCAGCTAACCAGGAGGCTGAGGCAGGAGGATTGCTTGGGCCAGGGAGATTGAGACTGCGGCTATGATCACGCCACTGCACTCCAGCCTGGGCGACAGAATGACCCTGTCTGAAAAAGAAAAAAAAAAGTAGGCGGGGCTTCCTGAGGACCAGGGTGTGTGGGGATGGTGGGTGAGGCCCAGGATGTGTGGGGATGGTGGGGGCGGTGCTGGCTGTCCTCCCTCGGGCATGTGTCTTTCTGCTCCTTGTGTGGCTTATGCAGCAATGGGGGCCACAGAGTTGTGCTCCAGAAAGGGGGAAACAAGATGGTGTCTGTTTGATGTTTATTGGTGGTGTCTGATGAGCGTTTCTCTTGTCCAGACTGTGTTTCTCTCTCCAGACCAGCTCCCAGGGTACAGGGGGTGGGGAGTAGGTGGTAGCTGTGTCAGTGCTGGGCCCTGGTGCCACTCCCTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTATGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGG
Task1_train_22840
A variant found in Chromosome 16 affects LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Norum disease
CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCAGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
Task1_train_22841
Chromosome 16 houses a mutation in gene LCAT, SLC12A4 (lecithin-cholesterol acyltransferase| solute carrier family 12 member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Fish-eye disease
CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCGGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
CTAGGGAAGAGCAGGTGGGGCCTCGGGGGGTCTGGCCCTAGCTCTGGCAGATCCATCCTCAGTGAAGCACATCCCTGGGCAAAGGCACTCCTGCGAGCAAGTGGAAGGCAGGCAAGGGCTGGGCAGGCAGGCTCTGGGGCTACAAGAACAAACCCTGGGAGCAGATAGCTGGGATTCACTTTCTGTGTTCACTGCCCCTTTGCCATCACTGACACAGACTCTGGAAGGAGCCACCCTAATTGCTCAGGCCAGGGTCACTGCTCTGGGGGCCAGTGACAGCAAGCATGCCAGCCCAGGAGTGGTAGATAGCACCCCTAGAGGCCACTGTGAGCAGGAGCCGCAATGAAGGCAGGCCCAGGATCAGCTTGGTCTCACCCATCGCTGGACCTAAGTGTTCGAGGCCTTCTCACCTGAGGCCAAGACCAGCATGGGCTTGATGGAGCCACCCCAGGGAGCCCCAAGAGAGATGAAGCCATCAATAAAGCGGTCCTTCCAGGCCTGGGGCTGGCGCAGCAGGAAATAGAGCAAGTGTAGACAGCCGAGGCTGTGGCCAATGAGGAAGACAGGCTTCCCATAGGCAGCGTGCATCTCCTCCACCAGCCCTGCGAGCTTGCGGTAGTACTCCTCCTGCTGGCCTGCAGCGGGTGGAAGGGGTCAGGGCAGCTGGGGTCTGGGGCACCTGCCCCACCCCAAGCCGGTCATCCGCAGAGACACTCACCGGGCTCCAGCCGCCAGTCATAGGGGGCGGCGCGCACAGTCTCGTCCCGCACGTAGCCATTGTTGACCAGGTTCTGCACCAGTGTGTGCAGGTACCCTGTGGGGGGACCAGCAGCACCGGGGGCTTGGGCCATGCCTGCTGTGGGCCAGCACCCAGGCCTGGAGCCCCAGCCCTGCCCTCTGACACAAACCTGCCAGCTTGCTGCTGTCCAGGTACTCCACAGAGTAGGTCTTGCCAAAGCCAGGGACGCGGATCTGGACACCAGGGGCGTTGGACACGAGCCCAGAGCTCCGGTTGTAGACAACCCTGCGGGGCGGGGGTGCCACTCAGCAGCCAGTAGCCAAGGGGCAGCGTGTTGGGGCTAGGGTGGAGCACATGGCTGTACCTGGTGTTATCGATCCAGCAGTCTACCCCAAGGGGTAGGAACATGTTGAGATCCAGCCAGATGGTGAAGAAGTCCTCTGTCTTGCGGTAGCACATCCAGTTCACCACATCTGGTTTGTCCAGCTTGGCTTCTAGCTGATTCCCCAGGCAGCCGGGCACTGTGAGCAGCAGCCCTCACTCTGGACTCTGGATTCCCCCCGTGACCCTTACCCCCGTCACCCCAGATGCTGCAGTGACCAGACCCACCCCCCACCTCCCATACCCTCAACCCCCAGGTACAAAGCACACTTACCCTCCCCTGCTTACACCCCCTCTCCCTGCTGTCCCCCCAGTAGCCAAAGCCCAGGCTTCCCTGAGGAAGGGAAGGCGCTGAGGTGCTGAGGCCAAGGCCGCTGACCCCTGCCTCTGCAGAGCAAACACCCAGTCTGGCGCTCCTTTATTGCCAAAGTCCAAGGTGGGAACAGATAGGTCTGGGGGCATGGGGGCTGGGCCTAATAGGGGCCGGGCATGGATGGGCCTCTCCTGCTCACCGATCCTGGGCTGGGCATCTTGTCCTTGGTGGGTGGGGGCCAAGGAAGGAGTGGTGGGGCTTGGCCCAGAGTCTGGTGTGGCTGTGACTGACCACAGCTTGTGATGCCCCAGCCAAGACCTCAGGCACACCCCGTCCCCCACTCCGCCCCCCCTGGGTTAGACAACTGAGAGTCACAGTGTGGTGGGAGAAGGGACGTCATTCCTCTAAGGGACAAGCTTTTGGCCCCTCCCCACACCAGGGCAGGTACTTATGTCGGGGCTTATGCAGGGCAGAAGGGCTTTGGCCAGGTCAGCTGCCAGGGGCTGGGGCCCAGGCTCCCCAGGGTCTGGCGTGGTGCATCAGGGGCCTGGTGGGGGCTTACCGAGGATGACGGGCCGTGTGTGGTTACTGAGCTCAGCCTTGGGCGTGGTGTGCAGGGGGAAGAGCACATTGAGGAGCCAGAAGGGGGCGGCAGGAGGGAGCAGCAGCCCCAGCAGCAGCGTCACCCACTGCCATGGGGAGCCGGGCGGCCCCATTCCAGCCCTGGTGCCTACTGCCAGAGAAAGCGGCACTGGGCTGTCCTTATCTGGTGTGGGAGTGGGAGGGGCCCTAGGGCCAGTGGGAGGGACGGCCTGGCCAGTGGGGGTTGTGGCCAGAGATTGCCGGAAAGGGGCACAGCCTCAGGGAGCCGGCTCTGGGCCTGGGTTCAGTTCCGCCTTCTTCTCTTGGCGCCAGGGGAAACAGAGCCGGGGCAGCAGGAGGCCCAGAACTACACAATGTTTTATTGAAAAAGTCAGGCCTCAGCTCAGCTGTCTCCATTCGGCTCAGCTTGGTGGGGGGCCCTGCCCATAGTAGACTGAGCCAGATCTTCCTGCAGGCAGCTGGGCTGGACTCCCTCCCTGGCTACCCTTCCCTTCGTCTCTGATGGTGACATCCAAACAATAAATATGCAATAAATAGCGCTCCTGGGCTGGGCCGGGCCGGCTGCCTTCAAACCCCACTCGGCCCCTACCAGTCTTCTCTGGCCAGGACAGGCCTACTGGGGTGCTAGATAGTAAAGTCCCCAAACATCCCAGGGTCCCACAAGACCTGGGATCCATCTCCATTTTGAGGCCCAGGCCTGGTTTCCAAGGAGACCTAGCAAAGCTGGGTCCAGGACAGGGCCAGGCAAGCAGGGCTGGCAGGTGGGTGCTGGGAAGAGGCTGTTACCCCAGACCACAGCTTGTTATGTCCTGGCCAAGACCTCGACTCCAGGCCACAAGATGACACTGGGCTCAGGAGTAGATGGTGATGACTTCACGGCCACCACCGCGCACCAACAGCACCCGCTCAAGGCCCTCGGTCAGCACCTCGAGGAACTCCATGTCTGCAGGGCCTCAAGTCAAGGAGGCAACAACAGAATCAACGGGCAACCCGGGCCACCTGGGCCATGCCCACCCAGGGGTGCCCAGGAGAGAAGCCGCTGGCTTGACCTCCCATGCTATCCACCTCCCAACTGCCTGCCTCTCCACAAAGGGATACAGTTCTCGTCGCCCTCACTGTTCCTGGGTGGGCCAGGCATGTTTAGGAGAACCAGGCGGGCGTCGTGGGAGCGCGTGACAATGACTTCATTGAGCTTCACAGCAGTGTGCATGCGCCGCACATTGGATTGGTCCCTACACGTAGTGTAGCCAGTCACAGGTCGCCATGAGCCATCCTGCAAGGAGGGTCCCCACCCCTGGCCCATCTAACACTACTTGTCTGCCCCACCCCACCTCCACCCCTAGATTCCAGTGCCGCTGGGGCTGTTTTTGCTGCACTCACGGCTTAATGTGCACCAGCTCCCGGAAATTGTCAGGGGCATGGCTGGGGTCCCAGGTCTCAGTCATGTACTTGTCCCTGGTCCACGTCATCTGGATCTTGTCAGCCCCCACTGCAGACTCATCTTCCTCGTCCGAGTACAGGCTCTCCAGCCGCAGGGCCGAGTGCCGATCCTTGACCAGCTGGGCCTGAGGACAATTGCAGGAGATAGCCTTGGTCCCATAGGAAAAGGGGGATGGGGCCTGTCTGGCCCAATGTGACCACCTTGCCTCCGGGAAATGAGCACTAGCTTGGGTAGGGCTGCGGTGAGTCATTCTGATTCCTCCGCACCCACCGATGCGGTCTCCAAAGGCCTGACCCTGCCACCCGCCCTGGCGTGAACCACAAAGGGCACTGACTTCTCGCTCCCGCTCAGTCTTGGTCAGTCTCATCTGCCGCAGCATCTGCGACCGCTGCTCCATCATCAGCGTCCGCTCGTAGGTGTATGCAGAGATGTCACTGTTATGCTGGGGACAGGGTTGGCCGTGAGGACCCAGCTGCACGGGACATGGTATCCACGGGGCCAGGGCAGGGCAGAGGGCTCACCATCTCCACCACCTCCACCTCGGCCTCAAGGCGCAGATGGTACAGAAAGACAGCCAGGTCCTTCTTCATCTGGATGCTGTTGTCATCCATCTGGGCCA
Task1_train_22842
With a mutation on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGACGTGCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGGTTTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTGTTTCTCATCTATTTGTGTAAGAATTCCATGTTTACTTACTCTAGATAACTTCAAAAGAAAAAAAACTCTGGCCAATAAAATGCCATAGGAATGTTTAGGGATATGTGGAGTAGGCATTCTTTCTAAGTTTTCCTGAAGATGCACCAATGTTTAACAAGAAAGGAAGGGCAGTGTAGAACACCTATTGCTTTCTGCATGGTAAGAGGGATGGGTATTGGGAGAGCCCACACCTGCTGAGGAGTGCCTTTAGACTTTGAGCGGTGGTGTTTCTCTCCCTCCCAGAAATAGATCTCTTTGGGGAGACAGGCCATACAAGACGTGAATCTGGTGACATTTTACTTGTTTGAAGCAAAATTTTTTTAGATGATGGAGGGTTTTTAAAAATTGCTTTTAAAATTAAAATTTGAATAGATAAGAAGTAATCACTATAAAAAATAATGAAGCATAAGGAATGCTAGTATTAGCTGGGTGTGGGGCACTCACTTGTAGTCCCAACTACTGGAGAGGCTGAGGCAGGAAGAATGCTTGAGCCCAGGAGTTTGAGTCCAGCCTGGGCAACATAACGAGACCCCATCTTTTAAAAAAAAAAAAAAAGAAAAAGAATGCTAATATCGTGAACATTTATGTTCCCACCACCCAATTTAAGAAAAAGAACAATACTTTTGAAGTCCACTGCGTACCCCTCCTTGATCCCATCTCTTTCCCTTCTCTTTTAGGAGTTAACTATCCTGATTCCTTGCTATGCTTTTTAGTGTGATCCCTGAAGAACGTATCACTCCATTTTGCATAGCTATAAATTTCATAGAAATGGAATCGTATTGCATGTGTTGTGTGATTTGCTGTTTTTGCTCATCATTATATTCCTGGGATTATCCATTTTTAGGTTTATGTGTGACTGTAATTTATTGTTTAGATGAAAGTTTTCCTGGTTTGACTTGCTCTATCTTCATATTTTTCCTTAAGCTAAGGGTTCAGCATACGAAGGCAGTATTGGTGGCACTTCTTTAACAGTACCCCATCTCTTCTCCTAGCCTTGAGGGCTGCACCTAGATGAACTTGTGAGGCTCATTTGAACCTTTTGGAAGCACCGAAGCCTGCTGAAGTTTCCAGACATCTGTATGAATCTGTTGTAGTTTTTTAATGTTATATGCTGAATATAAAACCAAGTAACTCCTGCTGGAAACATTTACAATATCGATTAACAAATACTATCAGTGGCTTTGACATTTTTGTCAGTTTCTTGATTTTTTTCCCCGCTTTTGTCTCCCCTTCCCCCCTCCACATTTTGGGGCATTGTGCTGTTAATAGATTTTTTTTCTGTTCGTTTGTTTATATACCTCCTGTTTCCTTCTGATGTTAATAGATTTCTGACAGTCAGACTTGTCCACAAGAACTCAACTGGCAAGGCTGCTTTTCTGTGCTAAAACTGGGGAGCTAGTGGGCACCATGAAGATCTTCTGCAGTCGGGCCAATCCGACCACGGGGTCTGTGGAGTGGCTGGAGGAGGATGAACACTATGATTACCACCAGGAGATTGCAAGGTACTGGGTTGGTTTACAGCAGGCTGCAGCTGGGTGGGGCACTTGATCTCAAAGCAGATGCCTTGGGCTCCAGTCTGAGCGTGGGCTAGGCTGTCACCCAGTGCTTATGATGAGGGCTGGTGTTGGTCCTGAGCAGGTCTGCTCAGCCAGGTAGGTATATGTAGCAGTTAGGCAAAATCATGCCTGTTTGGAGAGTCAGACATTATGTAGCAGCCTTAGCAGAGCCTCAGCATCTGTTTAACGGAGCAAAGAAAACCCAAGCCTCAGTAGTGTTGATGAAGTTGAATCATTTACTTGCCTTACTGAAATGGTGACATGTTCATCATATGGTTAAATTCTTTTGAATGAAAAAAATGAAAATGGTTTTTTTTTTCCCTTAGAAGAAATATTTAAAAGTATGTGAGTTGTTGGCCAGGCGCAGTGGCTCACGCCTCTAATCCTAGCACTTTGGGAGGCCGAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGTGTTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAGTATGTGAGTTGTTATGTAGCAATCATTAAGTGCATTCAGTGTGCCAGCATTGTGCTAAGGCTGTGGATACCAGATGAAGAAGATCCTGTTCTCATCTTCAAGGACCATGCAGTTTTGTGGAAGAGACAGGCACATACAAAATTACAGCACAAAAGCCAGGCACGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCAAAGGGCGGGCGGGCGGGCGGTGGAGGGGGTGGTGGCGGCTGATCACTTGAGGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTATAAAAAAAAATTAGCTGGGAGTGGTGGTGGGCGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTACAGCACAGTGAGATAAAGGCACAAGAGGTCATGGAAGCAGCAAGAACCAGCTGAACTTGGGGTGGGAGGTAATGTTTGAATAATTTCTCAGTTCTAAAGGAAGAGAAGGTGAAGTTTGAGCAGCAGGGATTACAGGTAAGCTTTCAGATGAGCCAGATTGTGGCTGGGTGCAGTGGCCTACACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGCAGGAGGATTGCTTATGCCCACGAGTTCAACATAGTAAAACACTGTCTCACAAACAAACAAAGACCAAAAACAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCATGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGCTAAACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAACCACACACACACAGATGGGCTATTCTGGGGAGCAGCTAGCAGTTTAGTGCAGCTGGAGTGTGGTACAAAAGTACTATGGTAAGAGAGGCTGCCGAAAGCATACGCGGGGTCATTTTGTAAAGGGTGGTAGCAAAATGCAGGAAGAGGAACATGAGTTTAAGTCCAAGCTTTGCCACTTCTTTACTCTCTTGGCCAAGTTACTTCTCTGAGCCTTAATATAAAATAATATATACTTCAATATAGTAATACATTATCTCACAGTATAATA
GTATGCGTACATGCAGGTATGTGTATTGAGTCTCATTTTAAAGTATATTTCTTACTGGGGTTATCAGAAAGTTTGAAAATCATTAGACTAGGGGATAGGTATGCTGAGATTTTAGTAGTAGAGTTTTACCTGGACAAATTGTCTACTTTGAACCTGACTGCCGGCCTGAGTTTGTTCAGGGAAGATTGTTTCTAATCTATTTGCTTTTTGTTTGTTTGTTTTGGTGACGGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGGTCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAATACAGACGTGCGCCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGGTTTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAGCCTGTTTCTCATCTATTTGTGTAAGAATTCCATGTTTACTTACTCTAGATAACTTCAAAAGAAAAAAAACTCTGGCCAATAAAATGCCATAGGAATGTTTAGGGATATGTGGAGTAGGCATTCTTTCTAAGTTTTCCTGAAGATGCACCAATGTTTAACAAGAAAGGAAGGGCAGTGTAGAACACCTATTGCTTTCTGCATGGTAAGAGGGATGGGTATTGGGAGAGCCCACACCTGCTGAGGAGTGCCTTTAGACTTTGAGCGGTGGTGTTTCTCTCCCTCCCAGAAATAGATCTCTTTGGGGAGACAGGCCATACAAGACGTGAATCTGGTGACATTTTACTTGTTTGAAGCAAAATTTTTTTAGATGATGGAGGGTTTTTAAAAATTGCTTTTAAAATTAAAATTTGAATAGATAAGAAGTAATCACTATAAAAAATAATGAAGCATAAGGAATGCTAGTATTAGCTGGGTGTGGGGCACTCACTTGTAGTCCCAACTACTGGAGAGGCTGAGGCAGGAAGAATGCTTGAGCCCAGGAGTTTGAGTCCAGCCTGGGCAACATAACGAGACCCCATCTTTTAAAAAAAAAAAAAAAGAAAAAGAATGCTAATATCGTGAACATTTATGTTCCCACCACCCAATTTAAGAAAAAGAACAATACTTTTGAAGTCCACTGCGTACCCCTCCTTGATCCCATCTCTTTCCCTTCTCTTTTAGGAGTTAACTATCCTGATTCCTTGCTATGCTTTTTAGTGTGATCCCTGAAGAACGTATCACTCCATTTTGCATAGCTATAAATTTCATAGAAATGGAATCGTATTGCATGTGTTGTGTGATTTGCTGTTTTTGCTCATCATTATATTCCTGGGATTATCCATTTTTAGGTTTATGTGTGACTGTAATTTATTGTTTAGATGAAAGTTTTCCTGGTTTGACTTGCTCTATCTTCATATTTTTCCTTAAGCTAAGGGTTCAGCATACGAAGGCAGTATTGGTGGCACTTCTTTAACAGTACCCCATCTCTTCTCCTAGCCTTGAGGGCTGCACCTAGATGAACTTGTGAGGCTCATTTGAACCTTTTGGAAGCACCGAAGCCTGCTGAAGTTTCCAGACATCTGTATGAATCTGTTGTAGTTTTTTAATGTTATATGCTGAATATAAAACCAAGTAACTCCTGCTGGAAACATTTACAATATCGATTAACAAATACTATCAGTGGCTTTGACATTTTTGTCAGTTTCTTGATTTTTTTCCCCGCTTTTGTCTCCCCTTCCCCCCTCCACATTTTGGGGCATTGTGCTGTTAATAGATTTTTTTTCTGTTCGTTTGTTTATATACCTCCTGTTTCCTTCTGATGTTAATAGATTTCTGACAGTCAGACTTGTCCACAAGAACTCAACTGGCAAGGCTGCTTTTCTGTGCTAAAACTGGGGAGCTAGTGGGCACCATGAAGATCTTCTGCAGTCGGGCCAATCCGACCACGGGGTCTGTGGAGTGGCTGGAGGAGGATGAACACTATGATTACCACCAGGAGATTGCAACGTACTGGGTTGGTTTACAGCAGGCTGCAGCTGGGTGGGGCACTTGATCTCAAAGCAGATGCCTTGGGCTCCAGTCTGAGCGTGGGCTAGGCTGTCACCCAGTGCTTATGATGAGGGCTGGTGTTGGTCCTGAGCAGGTCTGCTCAGCCAGGTAGGTATATGTAGCAGTTAGGCAAAATCATGCCTGTTTGGAGAGTCAGACATTATGTAGCAGCCTTAGCAGAGCCTCAGCATCTGTTTAACGGAGCAAAGAAAACCCAAGCCTCAGTAGTGTTGATGAAGTTGAATCATTTACTTGCCTTACTGAAATGGTGACATGTTCATCATATGGTTAAATTCTTTTGAATGAAAAAAATGAAAATGGTTTTTTTTTTCCCTTAGAAGAAATATTTAAAAGTATGTGAGTTGTTGGCCAGGCGCAGTGGCTCACGCCTCTAATCCTAGCACTTTGGGAGGCCGAGGTGGCCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTTTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTTACTTGAGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGCAGAGGTTGTGTTGAGCCGAGATCGAGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCAAAAAAAAAGTATGTGAGTTGTTATGTAGCAATCATTAAGTGCATTCAGTGTGCCAGCATTGTGCTAAGGCTGTGGATACCAGATGAAGAAGATCCTGTTCTCATCTTCAAGGACCATGCAGTTTTGTGGAAGAGACAGGCACATACAAAATTACAGCACAAAAGCCAGGCACGGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCAAAGGGCGGGCGGGCGGGCGGTGGAGGGGGTGGTGGCGGCTGATCACTTGAGGGTCAGGAGTTCGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTATAAAAAAAAATTAGCTGGGAGTGGTGGTGGGCGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGAAAATCACTTGAACTCGGGAGGTGGAGGTTGCAGTGAGCCAAGGTTGTGCCACTGCACTCCAGCCTGGGTAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTACAGCACAGTGAGATAAAGGCACAAGAGGTCATGGAAGCAGCAAGAACCAGCTGAACTTGGGGTGGGAGGTAATGTTTGAATAATTTCTCAGTTCTAAAGGAAGAGAAGGTGAAGTTTGAGCAGCAGGGATTACAGGTAAGCTTTCAGATGAGCCAGATTGTGGCTGGGTGCAGTGGCCTACACCTGTAGTCCCAGCTACTTGGGAGGCCAAGGCAGGAGGATTGCTTATGCCCACGAGTTCAACATAGTAAAACACTGTCTCACAAACAAACAAAGACCAAAAACAGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAAGGCGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCATGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCCATGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGCTAAACTCTGTCTCAAAAAAAAAAAAAGAAAAAAAACCACACACACACAGATGGGCTATTCTGGGGAGCAGCTAGCAGTTTAGTGCAGCTGGAGTGTGGTACAAAAGTACTATGGTAAGAGAGGCTGCCGAAAGCATACGCGGGGTCATTTTGTAAAGGGTGGTAGCAAAATGCAGGAAGAGGAACATGAGTTTAAGTCCAAGCTTTGCCACTTCTTTACTCTCTTGGCCAAGTTACTTCTCTGAGCCTTAATATAAAATAATATATACTTCAATATAGTAATACATTATCTCACAGTATAATA
Task1_train_22843
Consider a variant on Chromosome 16 in gene PRMT7 (protein arginine methyltransferase 7). Determine its clinical classification and disease relevance.
Pathogenic; Neurodevelopmental abnormality
TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGGGAGACTCCGTCTCAAAAAAAAAAATTGTGGTAAAAACACATAACATAAACGGTCATACTGATTGTATCTAAGACATAAATGCACTTACTTTGACAATGAAATAGTTCTATATTTCTGTGAAAAATTATTTCACCCAGACTAAACATTTTTGTGCTTTACCTCAGAGGCAACGTCATTTCTTTTTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTAACAAGAATGAGTCTCCCTCTGTTGCCAGGCTTTAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCCAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGTCACTGCACCCGGCCTGGTAATTCTAAAGAATATTCAGTTCTAGATATTTTCTAATTCCAGTCTGATTTAGTCTTTTGCCTATCAGTTTAGAAGTGTGTTTCTTAATGTATGAAAAATTTTTTTTCTTCAGTTGTGTTTCTGATATTAAGATTTTTGACTTGTTTTGCATTGTGGTCAGAGGATATCACCCTTTTGATGCCAGTTCTGTATTAGCTGTCTAATGTTATTTAACAAATTACCTTAAATTTTAATAGCCTCTTAATATTTCTTACTAACTTGGCAGGTCATCAGTCTATTTAAAAGATTTGCACATATTTTTTCCATCATCTTTAGTTATTTTCAACAGAAGGGTCACTGTGCCTATTGAGTCAGACCGTTATAGATGAAAGATGTATGTGTTTACTAAAGACAGAAGTAAAAATCTTCAAGATGCAAAGAAGTTATTTTCTGATGGGGAAAATACTTTTTAGTGAAGCTCTCTGAGTTAGAGTCGGTAAAGGAAAACAAGCCATACATATTGCAGCAGAGCGGCTTTAACACAAGGAGCTGGCTACCCAGCTGTGGGAGGGCTAGAAAGCAAATGGGAACGCTGAGTAACCTAACAGTAGAGATTGCAGGGAGCAGTTACCTTGCCTAGGGCTGAGAAACTAAACGAGAAGATTAGGATTTCCAGAAGCCACAAGCATTGAGGAGAGATCCTGTGGACCACTGTCCAAGTACGGCTGCAGCTCTGAGGGGCCCAAGGAGCTGGTTATGGGATCATTGGGAAAAGTTGGAGTCTGCAATCAACTGCCCCTACCGAGAGGACCCTGATGAGAACAGCAGCATGCAGAAAGGAGCAAGCCTGCTCTGTCCTCCTACCTTCCAGTCGCCCTCTTGGTCCCCCTTTTGGCTGTACCTAACAGTTGGAAAAAGGAGAACATGGTTTGCAGGGCTCTGGCATCACTTAGTAGAGGATAGAAGAGTGAGTGTGGAGCAGGGACAGTCGCTTAATAAAGGGCAAGGGGCTGACTCACAAGACCTGCCCAACTCAGCCAGAGCTGTTCTGCCAGGGGCCAGAAAGGCCATAGGGCCCTGACTTGCACTGCCACTGCCAGCTGTGACTCTAGAACTTTGCAAAGCACCTTTCCACTTACTTATAATAACTGGTAGTAAGTGACGGCCATGTCTTCCTTAGAATGTAAAATACTACCAAGGTATCCGGGCTGCCGTGAGCAGGGTGAAGGACAGAGGACAGAAGGCCTTGGTTCTCGACATTGGCACTGGCACGGGACTCTTGTCAATGATGGCGGTCACAGCAGGTGCCGACTTCTGCTATGCCATCGAGGTAAGCCATTCCCTTCAGGTGTGTGTCCTGCATCTTGCATGGGAAATCCCCTATGCTCTTGCACTTTCCCCGTCTGTTCCTTCACAAACATTCATGGAGTGCTCACTCTGTGCCAAGCACAGAGCCAGGCTCTGAGCGTATAGAGATGAGTCAGACACAGTTCCTTCCTCCAGGAGCTAATTTTCTCCTCTGTCAGCCTAGGCTGCACATCAGAATCACTAGGAGCTTTAGAAAATACTTACAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGGTGAGGCAAGACAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCTACAGAAAAACTTTTAAATATTAGCTGGGCATGGTGGCATGTGCCTGTGTTCCAGCTATTCTTGAGGCTGAGATGGGAAGATCTCTTGAGCCCGGAAAGTCAAGGCTGCAGTGAGCCATGATTTGGACTTCATGTAAGAAAGCAAAAAATTACTTCTACCTTGTTTAAGCCAGTTATTGTGGGACTTTGTTGTTTCCAACTAATCAGTATATGAACTCAGTTTTGTAGGGGAAAGTATTTAAATACATGCCCCCACACCACCACACTCCAGCCTGGGTGACAGAGTGAGACTTTATCTCAAAAAAATCAAAACGAAACAAAGGCTGGGCACAGTGTCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATCTTTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAACAAAACAAAACAAAAAAACCTTATGCCTAGTCCCCAGCCCTAACAGATTTTGATTTAACTTTTCTGGGGTGAGGCCTGAGCCTTGGGACTTGGGAATGTGCGGCAAGGTTGAGAACCACTACCTTAAATGTCCCTATGGAGTCAGCTCTCTTATGTTTACCAATTTGTCATTTCTTTAATAAAACATTAAACAGCTTGAGCCCACAGAGCAAGAAAAATTAAAAACCAAACAAAATTAAAAATTAAACATGTTATTTTTCTCATAAAACAAATAATGCATATTATTATAGGAAATTTGGTAAATACCAAATAAAAATAGTATGTTGACCCAAAGTTAAGTACTGTTAACATTTTGGTGTATATTCTTCCAAGTTTTGGGGGCAGGCAGGGAGCATGTATATAAATACTTTCCCTACAAAATTGGGTTCATGTAGTGATTGAGTTGGAAATAACAAAGCCTCAAAATCACTGTGGTTTAAGGTAGAGTAGTTTTTTGCTATCTTTTTCGTGGCGTGATCTCTATTCACCGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTTTTCTCAGCCTCCCAAATAGCTGGGATTACAGGTATGTACCACTGCACCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGATCTCAGGGGATCCCCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAATCACTGCGCCCTGCCTTGTTCCTCTTTTTTAAAAGTAAGAATAACTTTCCCAGGAATTTCTATTATAGCAAACCTCTCCTTGGGTACCATCGGCTAGAATGAGGTTAAATCTCATTTCTTATCTCTGGCAAGAGGGATTCAGTTACTCTTAGCTCAGACAAGTGCACCACTGCAAAGGTCAGTTCCCCACGCTGCACCCTCACCTGATTTCAGGG
TAATTTAATGGCATCGTTAAAGTGAAGGCTGTGCCATCCCTGGTTTACAATTGAGGACGCTGTTCATCAATTTTTTTTAACTTAAAAAATAAATAAAACAAGGCCAGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCAGATCACGGGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCCCTACTAAAAATACAAAAAAAAGCCGAGCGTGGTGGCGGGCAGGGCCTGTAATCCCAGCTACTCAGGAGGCTGATGCGGGAGAATGGCGTGAATCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACAGGGAGACTCCGTCTCAAAAAAAAAAATTGTGGTAAAAACACATAACATAAACGGTCATACTGATTGTATCTAAGACATAAATGCACTTACTTTGACAATGAAATAGTTCTATATTTCTGTGAAAAATTATTTCACCCAGACTAAACATTTTTGTGCTTTACCTCAGAGGCAACGTCATTTCTTTTTTTTCTTTTTTCTTTCTTTCTTTTTTTTTTTTTAACAAGAATGAGTCTCCCTCTGTTGCCAGGCTTTAGTGCAGTGGTGTGATCTTAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGGTTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTCCAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGTCACTGCACCCGGCCTGGTAATTCTAAAGAATATTCAGTTCTAGATATTTTCTAATTCCAGTCTGATTTAGTCTTTTGCCTATCAGTTTAGAAGTGTGTTTCTTAATGTATGAAAAATTTTTTTTCTTCAGTTGTGTTTCTGATATTAAGATTTTTGACTTGTTTTGCATTGTGGTCAGAGGATATCACCCTTTTGATGCCAGTTCTGTATTAGCTGTCTAATGTTATTTAACAAATTACCTTAAATTTTAATAGCCTCTTAATATTTCTTACTAACTTGGCAGGTCATCAGTCTATTTAAAAGATTTGCACATATTTTTTCCATCATCTTTAGTTATTTTCAACAGAAGGGTCACTGTGCCTATTGAGTCAGACCGTTATAGATGAAAGATGTATGTGTTTACTAAAGACAGAAGTAAAAATCTTCAAGATGCAAAGAAGTTATTTTCTGATGGGGAAAATACTTTTTAGTGAAGCTCTCTGAGTTAGAGTCGGTAAAGGAAAACAAGCCATACATATTGCAGCAGAGCGGCTTTAACACAAGGAGCTGGCTACCCAGCTGTGGGAGGGCTAGAAAGCAAATGGGAACGCTGAGTAACCTAACAGTAGAGATTGCAGGGAGCAGTTACCTTGCCTAGGGCTGAGAAACTAAACGAGAAGATTAGGATTTCCAGAAGCCACAAGCATTGAGGAGAGATCCTGTGGACCACTGTCCAAGTACGGCTGCAGCTCTGAGGGGCCCAAGGAGCTGGTTATGGGATCATTGGGAAAAGTTGGAGTCTGCAATCAACTGCCCCTACCGAGAGGACCCTGATGAGAACAGCAGCATGCAGAAAGGAGCAAGCCTGCTCTGTCCTCCTACCTTCCAGTCGCCCTCTTGGTCCCCCTTTTGGCTGTACCTAACAGTTGGAAAAAGGAGAACATGGTTTGCAGGGCTCTGGCATCACTTAGTAGAGGATAGAAGAGTGAGTGTGGAGCAGGGACAGTCGCTTAATAAAGGGCAAGGGGCTGACTCACAAGACCTGCCCAACTCAGCCAGAGCTGTTCTGCCAGGGGCCAGAAAGGCCATAGGGCCCTGACTTGCACTGCCACTGCCAGCTGTGACTCTAGAACTTTGCAAAGCACCTTTCCACTTACTTATAATAACTGGTAGTAAGTGACGGCCATGTCTTCCTTAGAATGTAAAATACTACTAAGGTATCCGGGCTGCCGTGAGCAGGGTGAAGGACAGAGGACAGAAGGCCTTGGTTCTCGACATTGGCACTGGCACGGGACTCTTGTCAATGATGGCGGTCACAGCAGGTGCCGACTTCTGCTATGCCATCGAGGTAAGCCATTCCCTTCAGGTGTGTGTCCTGCATCTTGCATGGGAAATCCCCTATGCTCTTGCACTTTCCCCGTCTGTTCCTTCACAAACATTCATGGAGTGCTCACTCTGTGCCAAGCACAGAGCCAGGCTCTGAGCGTATAGAGATGAGTCAGACACAGTTCCTTCCTCCAGGAGCTAATTTTCTCCTCTGTCAGCCTAGGCTGCACATCAGAATCACTAGGAGCTTTAGAAAATACTTACAGGCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAGGGTGAGGCAAGACAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATAGTGAGATCCCATCTCTACAGAAAAACTTTTAAATATTAGCTGGGCATGGTGGCATGTGCCTGTGTTCCAGCTATTCTTGAGGCTGAGATGGGAAGATCTCTTGAGCCCGGAAAGTCAAGGCTGCAGTGAGCCATGATTTGGACTTCATGTAAGAAAGCAAAAAATTACTTCTACCTTGTTTAAGCCAGTTATTGTGGGACTTTGTTGTTTCCAACTAATCAGTATATGAACTCAGTTTTGTAGGGGAAAGTATTTAAATACATGCCCCCACACCACCACACTCCAGCCTGGGTGACAGAGTGAGACTTTATCTCAAAAAAATCAAAACGAAACAAAGGCTGGGCACAGTGTCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCTTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACTCCATCTTTACTAAAAATACAAAAATTAGCCGGGTGTGGTGATGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGAGAGAATCGCTTGAACCCAGGAGGCAGAGGTTACAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAACAAAACAAAACAAAAAAACCTTATGCCTAGTCCCCAGCCCTAACAGATTTTGATTTAACTTTTCTGGGGTGAGGCCTGAGCCTTGGGACTTGGGAATGTGCGGCAAGGTTGAGAACCACTACCTTAAATGTCCCTATGGAGTCAGCTCTCTTATGTTTACCAATTTGTCATTTCTTTAATAAAACATTAAACAGCTTGAGCCCACAGAGCAAGAAAAATTAAAAACCAAACAAAATTAAAAATTAAACATGTTATTTTTCTCATAAAACAAATAATGCATATTATTATAGGAAATTTGGTAAATACCAAATAAAAATAGTATGTTGACCCAAAGTTAAGTACTGTTAACATTTTGGTGTATATTCTTCCAAGTTTTGGGGGCAGGCAGGGAGCATGTATATAAATACTTTCCCTACAAAATTGGGTTCATGTAGTGATTGAGTTGGAAATAACAAAGCCTCAAAATCACTGTGGTTTAAGGTAGAGTAGTTTTTTGCTATCTTTTTCGTGGCGTGATCTCTATTCACCGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCTTTTCTCAGCCTCCCAAATAGCTGGGATTACAGGTATGTACCACTGCACCTGGCTAATTTTTATATTTTTAGTAGAGATAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAATTCCTGATCTCAGGGGATCCCCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAATCACTGCGCCCTGCCTTGTTCCTCTTTTTTAAAAGTAAGAATAACTTTCCCAGGAATTTCTATTATAGCAAACCTCTCCTTGGGTACCATCGGCTAGAATGAGGTTAAATCTCATTTCTTATCTCTGGCAAGAGGGATTCAGTTACTCTTAGCTCAGACAAGTGCACCACTGCAAAGGTCAGTTCCCCACGCTGCACCCTCACCTGATTTCAGGG
Task1_train_22844
A variant found in Chromosome 16 affects PRMT7 (protein arginine methyltransferase 7). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACC
TGTGTTTTTTGTAGAAATGGGTGTCACTGGTATGTTACCCAGGCTGGTCCCGTACACCTGGCCTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTATGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACC
Task1_train_22845
The following genetic variant occurs in PRMT7 (protein arginine methyltransferase 7) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Short stature-brachydactyly-obesity-global developmental delay syndrome
CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACAGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACCATTTGCCGGAAAATTCAAAGCGGAGAATGCAACTTTGAGAGATTTTTTTTTCCTGACAAACA
CTCAAACGATTTGCCAGCCTCGGCCTCCCAAATTGTTGGGATTACAGGCATGAGCCACCGTGTCCAGCTGGCATCTACTTTTTAGGGCAGTTCTTCCTTTTTCAAAAAGAGGCTTAACAATTATGAGCGAAATAAACCTCATTATATAAAATAAAAATATCACTCATGGTCCTCCCTTTCACTCAAAATAGCTCCCTTTGTTTGGTCTCTCTCCAAACGCGTGGGTGTCATCGGTGCTCATCTCTGTTCCGGGCCCCGTGGCCTTCAGCAGCAGCGTTTAAGATGTCTGTCCGTATTCTGCACGAGGGTTTATATCCCGTTCTGAGTGCTGGCCATTTGGGTGGGTTCCAGTTTTTGCTGGTATAAATAATTCTGTGATTTGCATTTTTATGTGAATATAACTTTTTTTTTTCTTTTGGGGTTTTCTTAGGATAGAAACCTGTATGTGGGGTTTGTAGTAAGGACTAGCACAGCTTATTAAAAATTGACCGTGGATCATTGTCAACCATGTTTCACAATTTAGAATATTCAGTTATTTAAATACTTCAATTTAATTCAAAGAATAAGCCAAAACCTTTTTGTATTTTCCCACCTTTTTATTTTGAAAAATTATATATCCACAGAATAAGTGAAAATGAACACTGATGGTCGCTTTATTAATTTAAATTTACCAGTTGTTAACGTTTGCCACATCTGCTTTATCTTTGTCTTTCTGCCTCCCTTCCTGCATCTCTACACACACACACACACACACACACGGGCATGCACATTTTTTTTTTTTATTGCTAAATCATTTGAAAGTAAGTTGCAGACATCTGACACTTTACTTTTAAATACTTCAACACTTATCTCCCAAGAATGAAAACAGTCTGCAACATAAATGAAACACATGATCACACCTAAGAAAAACAGTGGTTCCATAGTATCGTCTAACATATGGTTCAAAATAAAATTTGTCTCCAGAAGTCCTTGATAGCTTTTGTTTCCTCAGTCTACGATCCAGTTAGGTTTAGTGCATTGAGTCTGACTGTTTTGTAAATTCCGAGTACGTTAAAGCCTTTGGAATGCGTGCCATGGACTGTTCTGAAAAGGTTCCCCTTAAACCACTAGGTTTAAACCAATTTTTTTCCTTCAAAGGAAACATTCAGCACAGCTCTACGTGTTGAAGAGAGAGCTTTGGTGCTACTCTGATGGGGTGGGGACTGGAGCCTGCACTTGTCCCCTCCCCTGAGCCACTCTGGCAGATTGCTGCTCTTGGCCACATTGTGTCTTCCTAAAGCCAGCAGGGTTCCCGCAAACTTTTGGGCCACTGGCCTCTGAGTTTAGAGTTTATTTATCTCCTTGGCCACAATAGCCAGCTGTAGTCTACATTGTGGACGTCCTGAAAACTGGCAGTTCTCTGGCATTTGGCTCCTGGATTAGAAGCATTGCTCATACTGCAGCTCGTTGACAGCTGACTCTGTTCTCCGTTTCAGTGGCGGGACCACTGGATGCAGTGTGTGTACTTCCTGCCACAAGAGGAGCCTGTGGTGCAGGGCTCAGCGCTCTATCTGGTAGCCCACCACGATGACTACTGCGTATGGTACAGCCTGCAGAGGACCAGGTACGTCGAGCCTCGTGGGGGTGGAGGATGAGCCTCTGAGACTTGTATGTAAATTCCCCATTTACAGATCCTCTGGAGGTGCCAGTGGGTTGATTTGTGTCTGGACAGAATAACATAAGAACAAAGATTTGTGACCAGTGTGTCAGTGCCCATTCGTGTGTACCCAGGAGAGGCTGTCATGGGTTGCTGGAATCTGTTTAGAGCAGATGCGTAGGAAAAGTCTGGAATTAGCGGGTGCTCTAAGCCCTCATGCCTACTGGAGACCAGTGTCCAGATTCATGCCCTCTGGAGACCTGTGGAGGCGCTCACAGCCCACGTCTGTTTGTTCATCTCCTGGCCTAGCCCTGAAAAGAATGAGAGAGTCCGCCAGATGCGCCCCGTGTGTGACTGCCAGGCTCACCTGCTCTGGAACCGGCCTCGGTTTGGAGAGATCAATGACCAGGACGGAACTGATCGATACGTCCAGGCTCTGAGGACCGTAAGTGTCCAGCCCCTTGGCTTGTTGTGGGGAAAAGGGAGAAAGAAGTTTGTCCCATGAACCCCAGCACTTTGCTTATGATTTGCTGTTTCTTTCCTGTGTCCTCTTGTCTATGAGTGGCTTCAGCGAGCGCCTCCTGGGTGGGCACTGGAGCAGAAAGCGGGAGAGCCTGGGGCTGGACTTCCTGAGGGCTTGCTCTCTGCTCTACTGGGAGAGCCTCTGGCTGGGCTCCTGCTGGACACCTTTGCCTTGTCAGACACAGTCATTGCTGTGGGTGGTCACGGTGGATTAGGCCACCCCCTCTTTTCATGTGTTGTCACCTTTCTAAAATTTTCTAAGATGTAAATCTGATCATGTCGCTCTCCTGCCTGAAAACCTTTGCTCCCTGCTACCTGTAGCAGGGGACTCGGCTTGGGGATTACAGATGGGGCTTAGAGGGAGGGTCTCTTGAGGCCCTTGGGGGTGTGTACAGAAATAGGTGTGAATGTGTGCATTTTGGGGGATGGGGGGAGGATCCAAGCCATCCTGAGTTTCTCTCAGAGGGGTCTGTCACCCAGAAAGGCATCCTTGCCTTTGGGCAGTCAATTGTGAACACTCAAGCCTTGGAGGCTCTCAGCTGTCTGTGCTCTAACCAGACAGGGAAGAAGCCTGTTGTCATGGACTGGAAGGTGGCCTGCAGGTGGTGCAGGCCTTCAGCGGGGCCTCTAGGCTGGGTTGAGGGGTGTCTTTCCTGACACTGGGGACAGGTGGGGAGATGTGAGCAAGGCGGGCATGTTTGTGGCTGGGGGTGGTTACTGCATGAGGACGCAGGGGGATGGTCTGAGGTCTGGGCAAGTGGAGTGAGAAGGGAAGTATTTCTGACAGCTTGCCAGCAGGAATCTTCTGGCAAACTGGAGGAAGCCCTGTGCTGAGCTTGCCTGTTCCCCGCAGGTGCTGAAGCCAGACAGCGTGTGCCTGTGTGTCAGCGATGGCAGCCTGCTCTCCGTGCTGGCCCATCACCTGGGGGTGGAGCAGGTACTGACATGCACCCTTGTCAGCCTCCTGATGTGGGCTTGTGAGTTAGAGCATTGCGTGGTCCGGGTGCACAATTCTGTGATCAAGGCTCTTTGCAAAGGCCACTGTTGTGGGCACAGCATGCTCGGGTCAGGGGCTGGGGGGTTTATTGCCTGTGCGTGCAGGCAGGCGTCAGGCCTCAGAGCTGGTGTTCAGGCTGCCCCAGGGAGGGAATGAGGGCAGGGAGGGTTGTTCAGGTGTGTCCTCTGTCTTAGGATGGTCTTGTCGCATTTTAATCTTTAATTTCTTCTCTGTTAAGTGAATATCTTACAACTAATAGCGTGGTGTTCCCTCTAGGTGTTTACAGTCGAGAGTTCAGCAGCTTCTCACAAACTGTTGAGAAAAGTAAGTGAGAATTGTTGTTGCTGAAATAGTGAGAGGACCTGTGGGGTCTGGGTTGATGGCTTTGAAGTGGCATTGGCCCCAGGGGAACAAAGGAGTGGTGGCTCGCTTGCACCCCTGTGTTGTCTTGGTTGCTGCCTGGAGAGCAGCCAGAGGCCTTGGGAGCTGTCACTGAAATAGAGGCAGGCATTTGCACTCTGCTTTGTTTTTTTGTGTCTGAAGAAGTTTAGGCTTTTTTCCTCACTTCACATAAGCTACTGTTGCGGTAGAATTAAATGTAGGATGTGTTTCTGGGACATCAGTGCTGAGGGAGCCAGTGCTCACAGCCTGATGGGAGATGGCATTTCTCTCCCTGGCCAGTAACTGGTTTGATTTCCTCTCCAAAGGGGAACTCCCTTCACCAGAACTGCAGGCTCGCACTGAGTCCTGGTGTGCACATGCGGGAGAAATTTCTTTTGCTTTTATCACATTGTGCTCCTGATCTCATCCGTGGTCTATAGGATGCCCCCCAAGGAGAGGATTTTTCCACAAAGCAGATAAAAGTGGTGTTCCAGAACCATTTGCCGGAAAATTCAAAGCGGAGAATGCAACTTTGAGAGATTTTTTTTTCCTGACAAACA
Task1_train_22846
Given this variant in gene CDH3 (cadherin 3) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; EEM syndrome
TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCTAATGCGAAGCTCTTGAGAGCATGGCAGCCACAGGGAATGCAGCAAAGACTGGAGTGTTAGAACATGGCTGATGGAGGCTGGGCGCGGTGGCCCACGCCTGGAACCCTAGAACTTCAGGAGCCTAGGCAGGCACATCACTTGAGATCAGGAGTTTAAGACCAGCTGGGCCAACATGGTGAAATCCTATCTCTACTAAAAATATTAAAAAATTAGCCGGGCGTGGTGGCGGGCACTTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTGATAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAGAGTTCCAGAAGTAGACAGGGCTGGAGTTGGAACTGGGAGGAAAAGATACTCATCCCTTCTCTCCAGGTACTTCTGTGATGCAGGTGACAGCCACGGATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAAGAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGCGTCATCTCCAGTGGCCTGGACCGGGAAGTGAGTGGCCCTTAGGGAAAGTACTGCCTACCCAGACTTGCCCAGGCTGGGAACTGACTCTGAGAGCAGAAGCTCCTATCCCTGCCCACAAAGCCCAAGGCAGAACAGTGAGGACCCACGTCAGCTGGGATGGCCACTGCTGGGTTCACATGCCATGCCCCTGGTTCCTTGGGCCTGTGGCCCGCTGCCAGCCAATCTCGTTAAATCTCCTCCAGGGCTGGGAGGCAGCTGTAAAATGCCTACTTTTGGTATTTTCTGTAGGTTTTCTCATTTCCTCTCAGAGTGGCTCACTTAGTGTGCACATTACCCAAATTGGTCCCTTATGTGCCACAAAGTAGAATTAGCTCCATGGATACTGGATTTGCTGCCTGTTTCCTAATTGATACCTTTATCCAAATCCTCACTCAAAACTCTTTTTCTGAGGCCAGGCACAGTGGCTCACGCATGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCAAGATCACGCCACTACACTGCAACCTGGGCGACAGGGCAAGATCCTGTCTCAAAAACAAAAGCAAGACTCATTCTGGAGCAGTTAAGGGTCAGGGGGCGATGCCAAGGCTTCCCTAGGACAGGCCCAGGAGAACTATTTGGATCACTCGTTCCCTCTCCAACAGCATCCTCTGCTTCTGTTCTCCTGGCAGTGGGTGAGGGGTGGTCAAGGAGTCAGCGTTATGATAGGGAGAGATCCTCCTCTCCATCCACACACCCATGAGCCAGTGCTTCCTGGAGGTCAGGGGAGGGACCCTTCAGATTAAACTCACAATGGGCTTCCCCTCTCCTTTCTCCCCAGAAAGTCCCTGAGTACACACTGACCATCCAGGCCACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGGCAGTAGTGGAGATCCTTGATGCCAATGACAATGCTCCCATGTTTGACCCCCAGAAGGTAATGCCCCTTCCTCACTCAGTCCCTCATCAGATAATGAAGGACCAAAGTTTGCCTTTCTCAGGAAACTGGAACCAGTCTATATTGCTTCAAATGCCAGTCTCAGCACTATGGCTGTGTGACCTTAGGAAAACTACCTAACCTCTCTGTGCCCCATTTCCTAATCTGTGAAAAGGAGATAATGATAATACCTGCTGCATTGTTCTGAGTTTCAAATGAAATAATCTATGTACGTTTCCTAACACGATGCCCTAAAAGAAGTGCTTGATATGAAAATCTTTGTTGATTTGAAAACATATTTTCCTTGTACCTACACCTGCCCATCTTTTCCCAGTGAATGCTTGTGTACCTCCAAGGCAGAGGACTCAGTGCCAATCAAGGTGCCAATTACATCCTCCCCCTTCCATCTTTAGACAACTCTGAACGTTAATTAGGTCTGAATAAAAATTTGTAATGACGCCAGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACTTTTGAGGCCAGGAGTTCAAGACGAACCTGGCCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGTGCAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGACATGAGGATCGCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGCGGCAGACTGAGACTGTCTAAAAAAATAAAATAAAAATAAATAAATAAATTTTTTGTTCCGAGCAACTGATTTTCCAGTCTTTGTCACATGTCCCAGAACCTCCAAAAAATTTCTGTTCAGTGCCCCAGCCCATTCAGGCACCTAGCCCTTCTTGCCACCTTCCTTATTCCTTTCTGATCTCAGCTGGATAGATAGCTACACGTGGCAGGGGCTTGGGCATGCAAACCCGTGAGATTTCTGGAACATCAGGCCCCTGCGTGTAGGGAAAGCAGGCACAGGATTGGTGTGGTCTGTGCCAGCAGCTGTGAGGCTGCTGCTGGGGACATCCTGCCGCTGTGTATACCCTGAAACCCCGCAAAGTGGGTGGGTGGTCCAGGAAAGGGTAAAGGCATGGGGATCCCCTGAGGTTGGATGGAGGCTTCTCAGCCTCTGGAGTAGGACAGTCATTCTCTGCTCTGATAGTGCTGTGCTTCTCACACTGACAGTACGAGGCCCATGTGCCTGAGAATGCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACCACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAGGTGAGTCAGTTCGGGCCTCAGACAATGGCTATACCTGGGGCAGTCAGGTCTGCAGCCTTCAGGATGAGGAGCCACTGTCTACCGTGGGCTAGTCCAGGAATCGTACCAGCCCAGTGGCTCCCAACACTGTTCTACCACTCTTGTGTTGGGAAGTCCCTTTGTTCAAACTAAATCTTACCCAGGAGCCCACTTCATAAATAGGTAAGAGTCACTGATTAATTGAAGCACATCAGTGGAGCCTCCTCCCAGACCACAGTGTCCAATGGCTGCCCCGAATCAGTCTCACATAGAGAGTCCATCTTATTGAAATCCATGTTGACTTTGCATTTACTCTAAAACTCATGTCTAGGTGTTTAGATAATAAAATGTTTTGAATCACTGAGGCACACTCTTGCCTCTCAAAAAGTCTCTTTTTTGTGTGTATGTATTTTTGTTTTTATTGGGGTATAGGACGTGGGTTGGGTCAAAAAGTCTGAATAAGGCTGGGCGCAGTGGCTCACACTTATTCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTCAGATGAGCCTGGTGAACATAGCAAGATCCCATCAGCACTAAAAAAGAAAAAAATGAAGATGGGCCT
TCTTAAAAATCCAGATTTCCCCCCTTCCATCCCAAGGTTCCTGAATAAGAATGATCCTAGAGCAGAGCTCTGGAATCTGTATATTTGAAATTTTCCCTAAAGCTTCAGATGATCAGCCAAGCTTGGGAACCACTAGCTTTGGAGCTTCAAAGACCTAGATTTGAATCTTGGCTTTGCCCTCTTTACCGGCTGTGATCCTGGGCATATTCTTGACCTCTGAGCCTCACTTCTCACATCTAAAAATGGGAATAATATCAACTTTGAAGAGTGGTGAAGATTAGAAATACCATGTGCAGACTGTTAGGTAATACAGAGCGCCTAATGCGAAGCTCTTGAGAGCATGGCAGCCACAGGGAATGCAGCAAAGACTGGAGTGTTAGAACATGGCTGATGGAGGCTGGGCGCGGTGGCCCACGCCTGGAACCCTAGAACTTCAGGAGCCTAGGCAGGCACATCACTTGAGATCAGGAGTTTAAGACCAGCTGGGCCAACATGGTGAAATCCTATCTCTACTAAAAATATTAAAAAATTAGCCGGGCGTGGTGGCGGGCACTTGTAATCCCAGCCACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCACACCATTGCACTCCAGCCTGGGTGATAGAGTGAGACTTCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAAAAGAGTTCCAGAAGTAGACAGGGCTGGAGTTGGAACTGGGAGGAAAAGATACTCATCCCTTCTCTCCAGGTACTTCTGTGATGCAGGTGACAGCCACGGATGAGGATGATGCCATCTACACCTACAATGGGGTGGTTGCTTACTCCATCCATAGCCAAGAACCAAAGGACCCACACGACCTCATGTTCACCATTCACCGGAGCACAGGCACCATCAGCGTCATCTCCAGTGGCCTGGACCGGGAAGTGAGTGGCCCTTAGGGAAAGTACTGCCTACCCAGACTTGCCCAGGCTGGGAACTGACTCTGAGAGCAGAAGCTCCTATCCCTGCCCACAAAGCCCAAGGCAGAACAGTGAGGACCCACGTCAGCTGGGATGGCCACTGCTGGGTTCACATGCCATGCCCCTGGTTCCTTGGGCCTGTGGCCCGCTGCCAGCCAATCTCGTTAAATCTCCTCCAGGGCTGGGAGGCAGCTGTAAAATGCCTACTTTTGGTATTTTCTGTAGGTTTTCTCATTTCCTCTCAGAGTGGCTCACTTAGTGTGCACATTACCCAAATTGGTCCCTTATGTGCCACAAAGTAGAATTAGCTCCATGGATACTGGATTTGCTGCCTGTTTCCTAATTGATACCTTTATCCAAATCCTCACTCAAAACTCTTTTTCTGAGGCCAGGCACAGTGGCTCACGCATGTAATCTCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCCAAGATCACGCCACTACACTGCAACCTGGGCGACAGGGCAAGATCCTGTCTCAAAAACAAAAGCAAGACTCATTCTGGAGCAGTTAAGGGTCAGGGGGCGATGCCAAGGCTTCCCTAGGACAGGCCCAGGAGAACTATTTGGATCACTCGTTCCCTCTCCAACAGCATCCTCTGCTTCTGTTCTCCTGGCAGTGGGTGAGGGGTGGTCAAGGAGTCAGCGTTATGATAGGGAGAGATCCTCCTCTCCATCCACACACCCATGAGCCAGTGCTTCCTGGAGGTCAGGGGAGGGACCCTTCAGATTAAACTCACAATGGGCTTCCCCTCTCCTTTCTCCCCAGAAAGTCCCTGAGTACACACTGACCATCCAGGCCACAGACATGGATGGGGACGGCTCCACCACCACGGCAGTGGCAGTAGTGGAGATCCTTGATGCCATTGACAATGCTCCCATGTTTGACCCCCAGAAGGTAATGCCCCTTCCTCACTCAGTCCCTCATCAGATAATGAAGGACCAAAGTTTGCCTTTCTCAGGAAACTGGAACCAGTCTATATTGCTTCAAATGCCAGTCTCAGCACTATGGCTGTGTGACCTTAGGAAAACTACCTAACCTCTCTGTGCCCCATTTCCTAATCTGTGAAAAGGAGATAATGATAATACCTGCTGCATTGTTCTGAGTTTCAAATGAAATAATCTATGTACGTTTCCTAACACGATGCCCTAAAAGAAGTGCTTGATATGAAAATCTTTGTTGATTTGAAAACATATTTTCCTTGTACCTACACCTGCCCATCTTTTCCCAGTGAATGCTTGTGTACCTCCAAGGCAGAGGACTCAGTGCCAATCAAGGTGCCAATTACATCCTCCCCCTTCCATCTTTAGACAACTCTGAACGTTAATTAGGTCTGAATAAAAATTTGTAATGACGCCAGGGGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGAACACTTTTGAGGCCAGGAGTTCAAGACGAACCTGGCCAATATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCAGGTGCAGTGGCATACACCTGTAGTCCCAGCTACTTGGGAAGCTGAGACATGAGGATCGCTTGAGCTTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGAGCGGCAGACTGAGACTGTCTAAAAAAATAAAATAAAAATAAATAAATAAATTTTTTGTTCCGAGCAACTGATTTTCCAGTCTTTGTCACATGTCCCAGAACCTCCAAAAAATTTCTGTTCAGTGCCCCAGCCCATTCAGGCACCTAGCCCTTCTTGCCACCTTCCTTATTCCTTTCTGATCTCAGCTGGATAGATAGCTACACGTGGCAGGGGCTTGGGCATGCAAACCCGTGAGATTTCTGGAACATCAGGCCCCTGCGTGTAGGGAAAGCAGGCACAGGATTGGTGTGGTCTGTGCCAGCAGCTGTGAGGCTGCTGCTGGGGACATCCTGCCGCTGTGTATACCCTGAAACCCCGCAAAGTGGGTGGGTGGTCCAGGAAAGGGTAAAGGCATGGGGATCCCCTGAGGTTGGATGGAGGCTTCTCAGCCTCTGGAGTAGGACAGTCATTCTCTGCTCTGATAGTGCTGTGCTTCTCACACTGACAGTACGAGGCCCATGTGCCTGAGAATGCAGTGGGCCATGAGGTGCAGAGGCTGACGGTCACTGATCTGGACGCCCCCAACTCACCAGCGTGGCGTGCCACCTACCTTATCATGGGCGGTGACGACGGGGACCATTTTACCATCACCACCCACCCTGAGAGCAACCAGGGCATCCTGACAACCAGGAAGGTGAGTCAGTTCGGGCCTCAGACAATGGCTATACCTGGGGCAGTCAGGTCTGCAGCCTTCAGGATGAGGAGCCACTGTCTACCGTGGGCTAGTCCAGGAATCGTACCAGCCCAGTGGCTCCCAACACTGTTCTACCACTCTTGTGTTGGGAAGTCCCTTTGTTCAAACTAAATCTTACCCAGGAGCCCACTTCATAAATAGGTAAGAGTCACTGATTAATTGAAGCACATCAGTGGAGCCTCCTCCCAGACCACAGTGTCCAATGGCTGCCCCGAATCAGTCTCACATAGAGAGTCCATCTTATTGAAATCCATGTTGACTTTGCATTTACTCTAAAACTCATGTCTAGGTGTTTAGATAATAAAATGTTTTGAATCACTGAGGCACACTCTTGCCTCTCAAAAAGTCTCTTTTTTGTGTGTATGTATTTTTGTTTTTATTGGGGTATAGGACGTGGGTTGGGTCAAAAAGTCTGAATAAGGCTGGGCGCAGTGGCTCACACTTATTCCCAGCACTTTAGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTCAGATGAGCCTGGTGAACATAGCAAGATCCCATCAGCACTAAAAAAGAAAAAAATGAAGATGGGCCT
Task1_train_22847
Gene CDH3 (cadherin 3) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Retinal dystrophy
AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAATCCCGTCTACGCTAAAAGTATAAAAAATTCGCTGGGGCCGGGCACGATTGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCATCGTGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGATCTCGGGAGGCGGAGGTTGCAGTGAGCTGAGTTCGCATCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCACACACCTGTAGTCCCAGCTACCCAGGAGGCTGAAGTGGGAAGATAGCTTGAGCCCAAGAAGGTCGAGGCTGCAGTGAGCCATAATGAAGCCACTGCACTTGAGCCTGGGTGACAGAGCAAGATCCTGTCTCAAATAATGGTCTCAAGCAATCCAGCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCAGGCCCCCCAGTTTTCTCAAACATCACCACCACTCCACTGGGAACCATTGATCTAGGGCTTATTAATACAGTTACTTTTAGGATGGTCTGAGAGGCCCCATTAGATGTGCACTCAGGAAACACGGGAGTGTTTATGTTACAGAGAAAGGGCAGCACTGTTGCTAGTGAGGGCCTCAAGCCCCTCAGTATTGGTGTTTTCCTTCTCACATCTCAACTGTCCTGCACAGGACCTCCTCTCAAAATGGTGGTCCAGGTCCTTCTTCCTCTTCTCTCCTAGGGTTTGGATTTTGAGGCCAAAAACCAGCACACCCTGTACGTTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTCCCAACCTCCACAGCCACCATAGTGGTCCACGTGGAGGATGTGAATGAGGCACCTGTGTTTGTCCCACCCTCCAAAGTCGTTGAGGTCCAGGAGGGCATCCCCACTGGGGAGCCTGTGTGTGTCTACACTGCAGAAGACCCTGACAAGGAGAATCAAAAGATCAGGTACTCAGGAGCTGGGCTCAGTAAGCAGCACGTACTGGTACAGTTGGTGGGTGGGTGATCATGGCCAACGTTTGTTCTGATTACCATAGAGATTGTTAAATAGGAATATCCCTCCTGCATAGGTTCTCTTCTTCCTACCCTCTTTGAGGCTGAAGACTGAATAGGGGTTTGGGGGCAGGTATTTCTCACTCTGTCATGTATCCCTCCTGGGACTCCTGCACCTGCTGCTTTAGGTCCCCGTTTATGGGCGAGGTGCATTTTCCATATGATCCTGCTTAGGAGCCCAGAGGCCATCTGCCAGTTGGTATGAGGAGGCCCTGAATGATGACATCAGAATTCTAAATATTCTGGATGTACTCGTCTCAACTTTTCCTCTCCAGCTACCGCATCCTGAGAGACCCAGCAGGGTGGCTAGCCATGGACCCAGACAGTGGGCAGGTCACAGCTGTGGGCACCCTCGACCGTGAGGATGAGCAGTTTGTGAGGAACAACATCTATGAAGTCATGGTCTTGGCCATGGACAATGGTGAGAGCATCCTCCCAGCCCTCCCACAAGGGCCACTTTTGGTTCTCAGGTCACATGACACAGCACAGCATGTTTCCTCCACAGGTGGGAACATGTGTCGAGGAGGGCTATTTGCAAACCAATCCAGACGGTCAAAGGGGTCTTTCAGAGGAGTCTTTTAAAGACTGGTCCTAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGTCGGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCCGGACGCAGAGGCAGAAGAATCACTTGAACCTGGGAGGTGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTATCTCAAAAAGCAACAACAACAAAAGACTGATCCTAGGGACTGGCCATGATTCCAATTTCCCTAAAACCCAAGAGTTGGGAGGGAGCCAGGTGTGGTGACTCAGGCCTGTAATGCTAGCACTTTGAGAGGCCTAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGGCCTGAGAAACATACAGAGACCCTGTCTCTACAAAAAATGAAAAATTAAAAAATAAGAGTTAGGGCCGGGCATGGTGACTCAAGCCTATAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGCAAAACACTGTCTCTACTAAAAACATAAAAAATTAGCTGAGTGTGCCGCCTCCCAGTTCCCGCATCAGTGGCCTGCACAGGGCCCTTGGGGCGAATTGCAGCACGCCTCGGGGCGAGCGGCAAGGGCTGGGGTGAGTGCACCTGCACCCAGGCGGTCTTTTCACGTGTCGCCAGGGTCAGACCGCATGTCTCTCCTTGCGGCGCTACACAAGAGCAGAGTACGAGTCTGAGGTGGAGGGAGTCATGGCAGGACAAGCATTTAGAAAGTTTCTTCCACTCTTTGACCGAGTATTGGTTGAAAGGAGCGCCGCTGAAACTGTAACCAAAGGAGGCATTATGGGTCCAGAAAAATCTCAAGGAAAAGTATTGCAGCAACAGTAGTTGCTGTTGGATCGGATTCTAAAGGAAAGGGTGGAGGGATTCAACCAGTTAGCGTGAAAGTTGGAGATAAAGTTCTTCTTCCAGAATATGGAGGCACCAAAGTAGTTCTAGATGACAAGGATTATCTCCTATTTAGGGATGGTGACATTCTTGGAAAGTACGTAGACTGAAATAAGTCACTATTGGAATGGCATCAACGTGAAGCTGCCCATTCCACTGAAGTTCTGAAACCTTTCATCATGTAAATAATTTCCATATTTCTCTCTTATAATAAACTAATGATAACTAATGACCAAAAAAAATAAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACCTTAACCCAGGAGGTGGTGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTCAAATAAGTAAATAAAACATCAGCATTAGGAAAGTCCCTTCAGCCTTAGTTTTTGGTTCACTGGGTCCTGAATTGGCCTGTCAGTTTTCCCTTGTGATTGATTGATAGGGGCTGACTGGAAAGTGCCATGACAGATTAGTGATGCCACACCATAACAGATGGGAGGTTATGACGTAGTTGTCACCTCTGGTTGACATGTAATGAACCAGGACCTGCAGGCAGGTGAGAGGTTGCAGCAGGGCTGTGAAGGGAAGCTTCCCTGAAGCTGATCGACAAACACTGGAGTAACCCTGAAGTAGCCGGTAGGTTTCGCCTTGTGGTTATAGTGGCTGTCTGGATGAAGTGGCTGCAACTGTGTCATGATAGTTAGTAA
AACAAATACTTTGTAATGCCACTTCGACATTGTTAAATGATGTGAAATGAAGTTCATTTATAATATAACTAACCTAACTCATTATTTCTAAAAATAGAGAATGTCCTAACTAAAATAAAGAAAAAATCCAGACCGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGACCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGGACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAAAAAAAAAAAAAAGAAAATCCAGCCTGGACAACATGGAGAAATCCCGTCTACGCTAAAAGTATAAAAAATTCGCTGGGGCCGGGCACGATTGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACAGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGGCCATCGTGGTGAAACCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGCAGGAGAATCGCTTGATCTCGGGAGGCGGAGGTTGCAGTGAGCTGAGTTCGCATCACTGCACTCCAGCCTGGATGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAGCTGGGTGCGGTGGCACACACCTGTAGTCCCAGCTACCCAGGAGGCTGAAGTGGGAAGATAGCTTGAGCCCAAGAAGGTCGAGGCTGCAGTGAGCCATAATGAAGCCACTGCACTTGAGCCTGGGTGACAGAGCAAGATCCTGTCTCAAATAATGGTCTCAAGCAATCCAGCAGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACAATGCCAGGCCCCCCAGTTTTCTCAAACATCACCACCACTCCACTGGGAACCATTGATCTAGGGCTTATTAATACAGTTACTTTTAGGATGGTCTGAGAGGCCCCATTAGATGTGCACTCAGGAAACACGGGAGTGTTTATGTTACAGAGAAAGGGCAGCACTGTTGCTAGTGAGGGCCTCAAGCCCCTCAGTATTGGTGTTTTCCTTCTCACATCTCAACTGTCCTGCACAGGACCTCCTCTCAAAATGGTGGTCCAGGTCCTTCTTCCTCTTCTCTCCTAGGGTTTGGATTTTGAGGCCAAAAACCAGCACACCCTGTACGTTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTCCCAACCTCCACAGCCACCATAGTGGTCCACGTGGAGGATGTGAATGAGGCACCTGTGTTTGTCCCACCCTCCAAAGTCGTTGAGGTCCAGGAGGGCATCCCCACTGGGGAGCCTGTGTGTGTCTACACTGCAGAAGACCCTGACAAGGAGAATCAAAAGATCAGGTACTCAGGAGCTGGGCTCAGTAAGCAGCACGTACTGGTACAGTTGGTGGGTGGGTGATCATGGCCAACGTTTGTTCTGATTACCATAGAGATTGTTAAATAGGAATATCCCTCCTGCATAGGTTCTCTTCTTCCTACCCTCTTTGAGGCTGAAGACTGAATAGGGGTTTGGGGGCAGGTATTTCTCACTCTGTCATGTATCCCTCCTGGGACTCCTGCACCTGCTGCTTTAGGTCCCCGTTTATGGGCGAGGTGCATTTTCCATATGATCCTGCTTAGGAGCCCAGAGGCCATCTGCCAGTTGGTATGAGGAGGCCCTGAATGATGACATCAGAATTCTAAATATTCTGGATGTACTCGTCTCAACTTTTCCTCTCCAGCTACCGCATCCTGAGAGACCCAGCAGGGTGGCTAGCCATGGACCCAGACAGTGGGCAGGTCACAGCTGTGGGCACCCTCGACCATGAGGATGAGCAGTTTGTGAGGAACAACATCTATGAAGTCATGGTCTTGGCCATGGACAATGGTGAGAGCATCCTCCCAGCCCTCCCACAAGGGCCACTTTTGGTTCTCAGGTCACATGACACAGCACAGCATGTTTCCTCCACAGGTGGGAACATGTGTCGAGGAGGGCTATTTGCAAACCAATCCAGACGGTCAAAGGGGTCTTTCAGAGGAGTCTTTTAAAGACTGGTCCTAGGCCGGATGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTAGATCACCTGAGGTCGGGGGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAATATACAAAAAATTAGCCGGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCCGGACGCAGAGGCAGAAGAATCACTTGAACCTGGGAGGTGGAGGCTACAGTGAGCCAAGATCGTGCCACTGCACTCCACCCTGGGTGACAGAGCGAGACTATCTCAAAAAGCAACAACAACAAAAGACTGATCCTAGGGACTGGCCATGATTCCAATTTCCCTAAAACCCAAGAGTTGGGAGGGAGCCAGGTGTGGTGACTCAGGCCTGTAATGCTAGCACTTTGAGAGGCCTAGGCAGGAGGATCACTTGAGCCCAGGAGTTCAAGGCTGGCCTGAGAAACATACAGAGACCCTGTCTCTACAAAAAATGAAAAATTAAAAAATAAGAGTTAGGGCCGGGCATGGTGACTCAAGCCTATAATCCCAGCACTGTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCTAGACCAGCCTGGCCAACATGGCAAAACACTGTCTCTACTAAAAACATAAAAAATTAGCTGAGTGTGCCGCCTCCCAGTTCCCGCATCAGTGGCCTGCACAGGGCCCTTGGGGCGAATTGCAGCACGCCTCGGGGCGAGCGGCAAGGGCTGGGGTGAGTGCACCTGCACCCAGGCGGTCTTTTCACGTGTCGCCAGGGTCAGACCGCATGTCTCTCCTTGCGGCGCTACACAAGAGCAGAGTACGAGTCTGAGGTGGAGGGAGTCATGGCAGGACAAGCATTTAGAAAGTTTCTTCCACTCTTTGACCGAGTATTGGTTGAAAGGAGCGCCGCTGAAACTGTAACCAAAGGAGGCATTATGGGTCCAGAAAAATCTCAAGGAAAAGTATTGCAGCAACAGTAGTTGCTGTTGGATCGGATTCTAAAGGAAAGGGTGGAGGGATTCAACCAGTTAGCGTGAAAGTTGGAGATAAAGTTCTTCTTCCAGAATATGGAGGCACCAAAGTAGTTCTAGATGACAAGGATTATCTCCTATTTAGGGATGGTGACATTCTTGGAAAGTACGTAGACTGAAATAAGTCACTATTGGAATGGCATCAACGTGAAGCTGCCCATTCCACTGAAGTTCTGAAACCTTTCATCATGTAAATAATTTCCATATTTCTCTCTTATAATAAACTAATGATAACTAATGACCAAAAAAAATAAGCTGGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCACCTTAACCCAGGAGGTGGTGGTTGCAGTGAGCCGAAATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTAAGACTCTCAAATAAGTAAATAAAACATCAGCATTAGGAAAGTCCCTTCAGCCTTAGTTTTTGGTTCACTGGGTCCTGAATTGGCCTGTCAGTTTTCCCTTGTGATTGATTGATAGGGGCTGACTGGAAAGTGCCATGACAGATTAGTGATGCCACACCATAACAGATGGGAGGTTATGACGTAGTTGTCACCTCTGGTTGACATGTAATGAACCAGGACCTGCAGGCAGGTGAGAGGTTGCAGCAGGGCTGTGAAGGGAAGCTTCCCTGAAGCTGATCGACAAACACTGGAGTAACCCTGAAGTAGCCGGTAGGTTTCGCCTTGTGGTTATAGTGGCTGTCTGGATGAAGTGGCTGCAACTGTGTCATGATAGTTAGTAA
Task1_train_22848
This sequence change occurs on Chromosome 16, altering CDH1 (cadherin 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCGTGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
Task1_train_22849
Gene CDH1 (cadherin 1) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hereditary diffuse gastric adenocarcinoma
CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
CCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCTTGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTC
Task1_train_22850
This sequence variant lies in CDH1 (cadherin 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCAAGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
Task1_train_22851
Located on Chromosome 16, this mutation impacts CDH1 (cadherin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCACGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
Task1_train_22852
This variant affects gene CDH1 (cadherin 1) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
CTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCAGGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCC
Task1_train_22853
Consider a variant on Chromosome 16 in gene CDH1 (cadherin 1). Determine its clinical classification and disease relevance.
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATGGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCCA
TGGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGTCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGATAGAGGAGAACCGCTTGAACCCAAGAGGCGAAGGTTGCAGTGAGCCAAGAACACACCATTGCACTCCAGCCTGGGCGACAGAGCAGGACTCCGTCTCAAAAAAAAAAGAGCTGGTCAGTGTCAAATGCTTAGCACAGAGACTGGCACAGTAATCTTCAATGTCCAGCACCTATTGTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGCGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCTATTGTTACTATTTTTACCCCTCACTTCTGTACAGAGCATTTATGGCTCAAGAAACATTTGTCATTTTAATTGTATGGGAGTCCCACAACAGCATAGGGAGACATTTCTGATCATTATTCCCATTAGGAGGGTGGAGAAACTGAGGCTTTGGGAGGTGGTCCTGACCTAGGGAATCAATTTGCTGACTCACTAACCCATGAAGCTCTACAGTTAAAAAAGACTAGATTAAAAAATGAGAACTCAGTAAAGGGGCTGAGGCAGGAGGATCGCCTGAGTTCAGAAATTTGAGATCAGCCTCGGCAACATAGTGAGATCCCCTCTCTAGAAAAATTTTTTAAAAAATTAGGCCGCTCGAGGCAGAGTGCAGTGGCTCACGCCTGTAATCCAACACTTCAGGAGGCTGAAGAGGGTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTGTACTAAAAATACAAAATTAGCCGGTGTGGTGGCACACGCCTGTAGTCCCAGCTACTCAATAGGCTGAGACAGGAGAGTCTCTTGAACCCGGCAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAAGACAGAGCGAGACTCCGTCTCAAAAAATACAAACAAAACAAACAAACAAAAAATTAGGCTGCTAGCTCAGTGGCTCATGGCTCACACCTGAAATCCTAGCACTTTGGGAGGCCAAGGCAGGAGGATCGCTTCAGCCCAGGAGTTCGAGACCAGGCTGGGCAATACAGGGAGACACAGCGCCCCCACTGCCCCTGTCCGCCCCGACTTGTCTCTCTACAAAAAGGCAAAAGAAAAAAAAATTAGCCTGGCGTGGTGGTGTGCACCTGTACTCCCAGCTACTAGAGAGGCTGGGGCCAGAGGACCGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGATCGCACCACTGCACTCCAGCTTGGGTGAAAGAGTGAGACCCCATCTCCAAAACGAACAAACAAAAAATCCCAAAAAACAAAAGAACTCAGCCAAGTGTAAAAGCCCTTTCTGATCCCAGGTCTTAGTGAGCCACCGGCGGGGCTGGGATTCGAACCCAGTGGAATCAGAACCGTGCAGGTCCCATAACCCACCTAGACCCTAGCAACTCCAGGCTAGAGGGTCACCGCGTCTATGCGAGGCCGGGTGGGCGGGCCGTCAGCTCCGCCCTGGGGAGGGGTCCGCGCTGCTGATTGGCTGTGGCCGGCAGGTGAACCCTCAGCCAATCAGCGGTACGGGGGGCGGTGCCTCCGGGGCTCACCTGGCTGCAGCCACGCACCCCCTCTCAGTGGCGTCGGAACTGCAAAGCACCTGTGAGCTTGCGGAAGTCAGTTCAGACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCCGGCGCCTGCCCTCGCTCGGCGTCCCCGGCCAGCCATAGGCCCTTGGAGCCGCAGCCTCTCGGCGCTGCTGCTGCTGCTGCAGGTACCCCGGATCCCCTGACTTGCGAGGGACGCATTCGGGCCGCAAGCTCCGCGCCCCAGCCCTGCGCCCCTTCCTCTCCCGTCGTCACCGCTTCCCTTCTTCCAAGAAAGTTCGGGTCCTGAGGAGCGGAGCGGCCTGGAAGCCTCGCGCGCTCCGGACCCCCCAGTGATGGGAGTGGGGGGTGGGTGGTGAGGGGCGAGCGCGGCTTTCCTGCCCCCTCCAGCGCAGACCGAGGCGGGGGCGTCTGGCCGCGGAGTCCGCGGGGTGGGCTCGCGCGGGCGGTGGGGGCGTGAAGCGGGGTGTAGGGGGTGGGGTGTGGAGAAGGGGTGCCCTGGTGCAAGTCGAGGGGGAGCCAGGAGTCGTGGGGACGATCTTCGAGGGAAGGAGAGGGGCATCCGTAGAAATAAAGGCACCTGCCATGCCAAGAAAGGTCGTAAATAGGAGTGAGGGTCCCGGGGATAAGAAAGTGAGGTCGGAGGAGGTGGGAGCGCCCCTCGCTCTGAGGAGTGGTGCATTCCCGGTCTAAGGAAAGTGGGGTACTGGAGAATAAAGACATCTCCAATAAAATGAGAAAGGAGACTGAAAGGGAACGGTGGGCTAGGTCTTGAGGGGGTGACTCGGCGGCCCCCTCCCGGGAGTTCCTGGGGGCTCGGCGGCCGTAGGTTTCGGGGTGGGGGAGGGTGACGTCGCTGCCCGCCCGTCCCGGGGCTGCGGGCTGGGGTCCTCCCCCAATCCCGACGCCGGGAGCGAGGGAGGGGCGGCGCTGTTGGTTTCGGTGAGCAGGAGGGAACCCTCCGAGTCACCCGGTTCCATCTACCTTTCCCCCACCCCAGGTCTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGTGAGGGCGCGCTGCCGGTGTCCCTGGGCGGAGTAGGGAGGGGTTGGAAAGGGGCCGAGAAATTGCACTCCCACACCCCTGGGTTGCAATGGGCAAGCTCCCTCCTTGGCTCAAACGACACCCCTTGGAATTTACGCAGATTTGGGGATCCAAACGTTTACGACTGAACACTGTGGTGGAGGGGGTAACCCTGCCTGGTTGTTGACTATGTTATAAAGAAGAGGAGGTTGAGGGCACTTACTAGAAGCCTTCGTATTTCTCTTATTGCCCTCAGCACTGTAGAGACAGTCTCTCATTTCAGACTGCAAAAACCTGGTGGGTGGGAAGGCCTGGCAGGAGTATTCCCGTTTTACAGTTGAGCAAACCGAGGCTAAGAGAGTGACGTCCACTTGCTCAGGGTCAGCAGAGCAGATATCTGAACTGGGATCTGACTCCCAGGCCCCATTAAGCACCATCTCTGGGATGACTGAAGAGCAGCCCTCTCTTGGTTACTGGGCTGTGGCTTTTGTTTACAGATATAAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAATCATAGCTTACTGCAGCCTCCATCCTCTGGGCTCAAGTGATCCTTCCCATCTCAGCCTCCCTAGTAGCTGGTTATCATGGGCATGTGCCACCACACCTGGATAATTTTAACTTTTTTTTAGGCTGGGCGCAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAATAAAAATATAAAAATTAGCCGGGCATGGTGGCGTGTGCCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCCACCGCACTCCAACCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAATAAATAAAAAATAAATTTTTTTTTAGAGACAGGAGTCTCTCCA
Task1_train_22854
A mutation found in CDH1 (cadherin 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCT
GGACACTAAGAAGGATAAAAAGAGAATGCAGTCTTTACGATATAGCAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACAGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCT
Task1_train_22855
Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Blepharocheilodontic syndrome 1
CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCGATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCAT
CAAAGGGTCTCATTGGTTTTTGTTTTGATTGGTCATTTTGGTGGATATATATAATTTGTCATTGATAAGAGAATGTGTCATTAAATTCAAACTGTACACTGCCCACAGAAGGCTGGGGACGCTGTCTGGCTAGGTTGGACTGTTAGACCTGAAGTATCCGTCTTGAATTGTCTTATCTTGTTCCTCATCTTCTTTCCTTTTAGGCCTCCGTTTCTGGAATCCAAGCAGAATTGCTCACATTTCCCAACTCCTCTCCTGGCCTCAGAAGACAGAAGAGAGACTGGGTTATTCCTCCCATCAGCTGCCCAGAAAATGAAAAAGGCCCATTTCCTAAAAACCTGGTTCAGGTAGAGAAAGAAGTTCTCTGTTTCTCTGGGAGGGATTTGGCAGAGAAGTACCAAGGAGAGAAAGGGAAAAGACCCAGTGTTGGGATCCTTCTTTACTAATTCTTTTTCTTTCATTTTGTCTTCAGATCAAATCCAACAAAGACAAAGAAGGCAAGGTTTTCTACAGCATCACTGGCCAAGGAGCTGACACACCCCCTGTTGGTGTCTTTATTATTGAAAGAGAAACAGGATGGCTGAAGGTGACAGAGCCTCTGGATAGAGAACGCATTGCCACATACACTGTAAGTATCTCTTAGAAGCTTGTTGACACCGGGGTAACATCCACCCAGGATTTTTTGGTCAACCCATGCTGGATCCGCAGATCAGAGGCTCTGAACACATGAGGAGCTTAACTTGACACCTCTTGACCTGTTGCTAAGGAGAAGTGATGGGAGAACGTGGGACAGTTTGGGGTTGTTAATTTTTCTCCTTGTCAGGAAGAAAGGAAGGAGAATCCGCATGCATCCTCATACAACCAGGACAAATTTAGACCCAAGATGTCAACCTGTTCTTGGGGCTGGAAGTCCCTGACCTAAAGGAACAGGACAGTGATGATATAAGGGAGCAAAACCCATTTCTTGGGCTTGGCAGCAGCAAGAGCTTAGGAAAACCAAGAGGTCTTTTTTTTTTTTTTTTGAGATAGGGTTTCACTCTGTCACCCAGGCTGGAACCACAACCTCCACTTCCCGGGTTCAAGTGATTCTCCTGCTTCAACCTCCCGAGTAGCTGGATTATAGGCAGCTGCCATCATGCCCAGCTAATTTTTTGCGTTTTTATTAGAGATGAGGTTTTACCATGTTGGCCAGAGTGGTCTCAAACTCCTGACCTCAGGCGATTCACCCTACTTGGCCTCCCAAAGTGCTGGGATTACAGGAGGGAGCCACTGCACCCGGCCTACAAGAGGTCATTTGTTTTTGTTTTGGATTTTTGTTTTTTTGAGACCGAGTCTACCTGTGTCACTCAAGCTGGAATGCAGTGGTACAATCTTAGCTCACTGCAGCCTGGACCTTCTGGGCCCAAGCGACACTCCCACCCCATCTTCCTGAGTAGCTGAGACTAAAGGCGCAGGCCACCACACCCAGTTAATTTTTGTATTTTTTGTAGAAACAAGATCTTGCTATGTTGCCCAGGCTGGTCTTGAAATCTTGAGCTCAAGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACATGAACCACTATGCCTGGCCAGGAAGTCATATATTGATGCCAAATTCAGAAATATCTGGGGGAAATGCTAGACTAAAAGGACCAGAGCAAGTTTCACCCGGCATGGAATAAGAGTTTTTCAGGCCCGCATCTTCATCTCTAGGCCTGATGCCCTGGTCCTCGTGTGGGAAATGGGAGGTCTGAGCCGTGGGGGGTGTTCTCCAGCCCATGGCTCTTACCTTGTTATAATCTCACTGAAGCAGCAGCAGCACATGTGTGAGAAAAGTCACCCACTGGGGGTCTCAGAGCCTAGGAAGGTGTGGCAGCCAGGGGGGCGCACTCTGCTCTGGCTGGGCCCCTTCTCCCATGTTTTCTTCCTCATCAGAGCTCAAGTCACCCTCACTTGGTTCTTTCAGCTCTTCTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATCCAATGGAGATTTTGATCACGGTAACCTATCAGAATGACAACAAGCCCGAATTCACCCAGGAGGTCTTTAAGGGGTCTGTCATGGAAGGTGCTCTTCCAGGTATATCCACTAATGAGAATCTGAATACTCAGAAAGACTCTTAGGTTCTTTGGACCCCAAAGTGTTGTCCAAGCCCAAAGGTTGTGTAACTAAAGCTGATCCTTCCTACGGACAGAACTTCTTGGCAAGCCATTGTTGTGTTATATGCATGTGTGTAACAGTCTACCTGTGGAAACATATAAAATAGGGAGAGTTTAAGAACAATCTTCCCTTTTTTATTATTAATTTTTTTTTTTTTTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGGTCACCTGTGCTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCTCGTCTCTATTAAAAATACAAAAAAATTAGCCGGTCGTGGTGGCGGGGGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTAAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGATCCAGACTCCGTCTCAAAAAAAAAAAAATTTTTTTTTCAGAGACAGGGTCTTGCTTTGTTGTCCAGGCTACTTTCAAACTCCCGGGCCCAAGCAATCCTCCCACCTCAGCCCCACAAGCTGCTAAGATTATAGGCATGAGCTACTATACCTGGCTAAGAACAACCTTCCTAATTAAGGAACAGATCTTTACCAGTACCTTAAAGCCCTAAACAATCCCCCTTGGTCACATTCTTTTCTCTCCTCCATAAAGATAACCACACCCTAGGCTGGGTGTGGTGGTTCACACCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATAGAAAATTAGCTGGGCGTGGCGACGCATGCCTATAATTCCAGATACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGGAGACAGAGATTGTGGTGAGCCGAATCACGCCATTGCATTCCAGCCTGGGCAACAGGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGATAACCACACCCTGACTTTTGTGGTAATCATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCAT
Task1_train_22856
A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Familial cancer of breast
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
Task1_train_22857
Given this context: Chromosome 16, gene CDH1 (cadherin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Blepharocheilodontic syndrome 1
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
Task1_train_22858
Given this variant in gene CDH1 (cadherin 1) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Hereditary diffuse gastric adenocarcinoma
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
Task1_train_22859
This is a variant in CDH1 (cadherin 1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Endometrial carcinoma
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
Task1_train_22860
Chromosome 16 houses a mutation in gene CDH1 (cadherin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Ovarian cancer
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAAGGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
CATTCCCTTTCTTTTCTTTATTACCATTTGTGTATTTATACCTGGATAATAAGTTGATAGTTTGAGCTTTCTTTCTCCCCTAGCACTTTGGTAAGAATTCTAGGAATTAGGGAACTCTGACACGGTACCACCCCCATGTCCCCTCCTTTATCCCTCAGGGCAGAATTGGATTAAGCAGTATTGACCCAGTCCCAAAGTGCAGCTTGTCTAAACCTTCATCTCCTTGAACTCTTCCAGGAACCTCTGTGATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACACCTACAATGCCGCCATCGCTTACACCATCCTCAGCCAAGATCCTGAGCTCCCTGACAAAAATATGTTCACCATTAACAGGAACACAGGAGTCATCAGTGTGGTCACCACTGGGCTGGACCGAGAGGTCAGGGGTCAGGAGGATCCAGAGGGTGTGGAGGACAAATGTGTATTAGCTCAATCCCGTGGACAAAGCAAAATCCTGCTAGGCCAGTTGTCAGTTAATACAGTGATGGTCTAAGCTTTGCATCTAAGCTTGTGCCCAGAGGTTCCGTGCCTAGAAGACAGGCAGGCTGGCATGAAGCACATGGTTAAATATTCTGGTTCCATGTGTTGGGCTGGGCTAGGCCAAAGGTGGCTAGTGTTCCTGGTCCTGACTTGGTTGTGTCGATCTCTCTGCAGAGTTTCCCTACGTATACCCTGGTGGTTCAAGCTGCTGACCTTCAAGGTGAGGGGTTAAGCACAACAGCAACAGCTGTGATCACAGTCACTGACACCAACGATAATCCTCCGATCTTCAATCCCACCACGGTAATTCTATAACTCCTTAGAGGGTTTCCAAAGAAAGGTCTTTTGTTGTTCATGAACTAAGTGTCACCACTGCTCATGGGCGAAGTCTTTGAAAACTCTCTCCAGACTAGAGAATGTTAACTTTAAACTTAAAAGCAAGCATCTTGAGATGGCAGTTGTCTTTTAGTATCTTTTTTCCACCCTTGGCCTGGGGCCAATTGGTGCAAGATTGTGAAGTTGCAAAAAGCACCTACTGATTTCATAGTCTCATGGTACATTTTTATAGCAAATATTACCTGGTTTCATTTCTTTATTGAACAAATATTTTCTAAGTTTATATTAGGCACTGTGTTAGACACTGGAGAGACCATCACACACAAAGATTCCATTCTCATGGTGTTTCTGGTATAGCCAGGAAGACATCTTATGAGAATTATTGTATGCCAAGGATATTACATGCATTCAAGGAGAAGGTATTGAGAACCAAGTAGGGTAAGTTTAAATCATCCTGTATAATGGCCAGGCGTGGTGGCTCACACCTGTAATCTAGCAAGTTGAGAGGCCAAGGCTGGTGGATCCCTTGAGGATGGAGTTTGAGACCAGCCTGGCCAACGTGGCGAAACTCCATCTCCACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTGCATGCTTGTAATCCCAGCTACTCGGGCATCTGAGGCATGAGAGTTGCTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATTGTACCATTGCACCCCAGTGCGCCCATTGCCTGGCCTCTCCTTGTCACATCTTCTCCTTGAAGCTTGCTTTCAGTTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGCTACAGTGAGCCATGATCGCTCAAATACACTCCAGCCTGGTGACAGTGAGATCTTATCTCAAAAGAACAACAAAAAAAGAGGAATCCTTTAGCCCCCTGAGACTCAGCTCTGCTAGCAGTCTTGGTACTTTGTAAATGACACATCTCTTTGCTCTGCAGTACAAGGGTCAGGTGCCTGAGAACGAGGCTAACGTCGTAATCACCACACTGAAAGTGACTGATGCTGATGCCCCCAATACCCCAGCGTGGGAGGCTGTATACACCATATTGAATGATGATGGTGGACAATTTGTCGTCACCACAAATCCAGTGAACAACGATGGCATTTTGAAAACAGCAAATGTTTGTATGGTACCTGGCAAGATGCAGAAACTGGCATCCTCACAGCTGTTCATACCCTTGTCCCCTGGTATCTTCTTAGAAGTAGATTCGCTTTGGCAGGGGGACAGGGTGACTTTCCCAGATTGTAGTGGACCATGTGGGATTTGCAGTGGCTCTTCCTGCTCATGTAAGAAATCAAGAAACTGTGCTGTGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGACGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTTGAGTCTCTGCTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCTCTGGGTGACAGAGCAAGACTCAGTCTCCAGGGGTGGGCGGGGAAAAGGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCATAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAAGAGATCGAGATCATCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGAGGGAGGTTGCAGTGAGCCAGGATCGTGCCACTGCACTCCAGCCCGGCAACAGAGTGAGACTTCGTCTCAAAAAAAGGAAATCAAGAAGCTAAGGCTTCTTGGTGGCTCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTGGGACCAGCCTGGCCAACATGGTGAAAACCTGTCTCTACCAAAAATACAAAAATTAACTGGGCGTGGTGGTGCACACTTGTAATCCCTGCTGCTTGGGAGGCTGAAGCAGGAGAATCGCTTGAGCCTGGAAGACAGAGGTTGTAGTGAGCCAAGATCGTGCTACTGCACCCTGGCCTGGGCAACAGAGTGAGACTCTGTCTGAAAAAAAAAAGAAATCAAGAAGCTGTTACACAGGATCCTGAAATTGAAAAAGAAGTACTATCTGCTTTAATAGGCTCTTTCCCAGAAACATTCTCCTTCCCTCAGCTCTTTCCATTTTGCGGTGACAGAGAAAATGATTTACTGGTCTCTGCTCTTGTGCTGGTTTATTTTAGAAGTGGGGCAGATATGGTTGTTTTTGAAAAATGTCCTAGAAACTTGAAAACTAGCCAAGCGCAGTAGTGTATGGCGGTGGGCCCAACTACTTGGGAGGCTGAGGTGGGAGAATCACTTGAGCCCAGGGGGTTGAAGCTGCACTCAGCTATGATCATGCCACTGTACTCCAACCTGGGCAATAGAATGAGACTCCATCTCTTAAAAAAAAAAAAAAAAAAAGATGGCCGGGTGCAGTTGCTGATGTCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACGTCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGCTCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCATTGCATTCCAGCCTGGGTGACAAGAGCAAAAATTCTGTCTCAGAAAAAAATAAAATAAGGAAAGAAACTTGAAAACTAAGAATTTGAGTGAATTGCTTGTTGAAGTGACTGGATCCCTAGAATAGCCCCAGCTTTGCCTTCCTCTTGAGTAGGTGAGCAGATTTGAGAAGCCATGGTAAGTAATTGTGGTTTCTGCCATTGAAAGTCATGGCAGAAACCACAGTTACTTTTGCACCAACCTAATATATTACCAAAAGCAACAGTTAAGGATTTAATTTTATTTTTACTAACACAAAATGTTTCGTTTTGTTTTTAACTTCATTGTTTCTGCTCTCTAGGGCTTGGATTTTGAGGCCAAGCAGCAGT
Task1_train_22861
A variant affecting Chromosome 16, within the gene CDH1 (cadherin 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; CDH1-related diffuse gastric and lobular breast cancer syndrome
TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCCCACCGACCCCTGAAATGGATTACCTGAATCTAAATTTTGAGGAATAATCAGACAAACCCAAGTTAAGGGGCATGCTACAAAACAACGGCCAGCACATTTCAAAAATGTCAGTGACAGAAAAGAAAGACCTAAGGAAGAGCCATGCCAACGAAAGGCCATATTGGATCCTGAATCCAGAAGGGTGCAAGGTTGCTATAAAGGACATTTTTGGAAAATCTGACAATTCGAATATGCACCATATATTCGACAATAGAATTCTATCAAAGTTTTGTTTCCTAAAATTGAAAATCAAGACTGGTCACGGTGGCTCACACCTGCAATCCCAGTGCTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGACCCAGCTATTCAGGAGGCTGGGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAACGAGACTCTGTCCCAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAAATCAAATTGGGGTTATATAACAGAATGCCTTTGTTCTTAGGAGATAACACATTGACATATTTATAAGTAAAGGAACATGACTTCTGCAATTTATTTGCAGATGGTTCAGCAGAACAAGAAATTATGTAGGCGTGTGTCAATATAGACAGAGCAGATGTGGCAAAGTATTAACAATGAGTAAACTCAGGTGAAGAGTTCATGGATGGTCATCATACTATTATAGTAACTTGTCTGTTGTATTGTTGGTTTTCTTGGTTTTCTTTTTTTTTTTTTTTTTTTAAAGACGGAGTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGTGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGTAAACCGCGTCTCAACTAACAATACAAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTCTAGTCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATGGTGTGAACCCAGGAGGTGGAGCTTGCAGCGAGCCGACATCGCGCCACTGCACTCCAGCTTGGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGGGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAACGATTCTCCTGCCTCACCCTCCCCAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGACCGGCCTATTGTTGGTTTTCAAAATAAAAACGTTGGAAGTAACCATATAACTGAAGAAGCGCTTAAGCCGTTTTCAGCTACATGTTGTTTGCTGGTCCTATTCTAAAAGCCAGAGCTTGTCCCCGTTCAGATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGTGCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCACGTACACAGCCCTAATCATAGCTACAGACAATGGTAAGGGGGCCTCATCTGAGCCTTTGCTGCCTCGACCTCCTAGCTAGTTCAGTTCCTTGCCCCTCCCTTCTTTTGGAGGGAAGAGTTCATTCTTTTTCTTTTATCCTTTTTGTTTGCTGGATTGATTTGTATAAATGTATGGAGTACAAGGGTAATTTTGTTACATGCATAGATGTGTAGTGGTAAAGTCAGGGCTTTTAGGGTATCCGTCACCCAAATAACATGCATTGTACCCATTAAGTAATTGTTCATCATCTACCCCCTCCCACCCCTTGGACCCTTCCCAGCTGCCATTGTCTATCATTCCACAATCTACATCCATGTGTACACATTATCGAACTCCGACTTCTAAGTGAGAACATGCAGTATTTCTCCTTATATGTCTGATTCGTTTCACTTGAGACAATGGCCTCCAGTTTCATCCATGTTGCTGCAAAAGATTTCTCTTTTATTCTTAAACAAAGGCATTCTTATTATCAAAAATTCAAGTGGGCTGGGCACGGTGACTCACACCTGTAATCCCAGCACTTAGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGGCAAAACCCTGTCTCTACAAAAAGTACATAAATTAGCTGAGTGTGTTGGTGAGCACCTGTAGGCCCAGCTACTCAGAAGGCTGAAGTGGTAGGATTGCTTGAGTCTGAAAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCTCTCCATCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAAATTGTTTTTTCAAGTAATTTTGGTCAAACAGAACTTACTTTTCACTACTCACTCTTTATTCCTTCCCTAAGGGAACCAGGTAATGATGGTTTACAATCCATTTCCAAAGCTTAATACTTGTGTGACCTTGGATTTGCTGTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCTTCCGCCTCCCAGGTTCAAGCAATTGTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCTGTTTAATTTTTATGTCCCTCAATTCCTTTACCTGAAAAATGTTAATACCCATGTGGGTGAAATTAGTTAGGTGTTAAATCAGTTAGGTGTGGGTCCTTCCAGACTGCTTCTGTGTATTTAAATACATTTATAGGCTGGGTGCTAGGGTCACACCTGTAATCCCAACACTTTGGGGGTCTGAGGTGGGAGATGGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATACTGCCCATAATCTCAAAATGCTGGGATTACAGGCATGAGTTATCATGCTTGGCCTCCTTGAGTTAATTTTAAATGACGTGTGCTCATTGTTAAAAAATAAAATTTACATGAGAAAAAAGTTTTAAAAATTTACAGTCATGCCATCTAGACATATCTATTTATAGGTTTGAGATGGATTCTTCTGTTGTTTTGTATCCGTATCGTATACTAATATTGATGATAGTTCCCTGGGTACCAATTTTTCCTACTACCATATGCTCCGTGTTGTGTCAAGATATAAAAGAAATGCAAACAGAAGTGTGGATGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTCAGAGGCTAAGATGCGAGGATCACTTGAGCTCAAGAGTTCAAGACCAGCCTGAGCAACATGATAAGACCCCCTCTCTACAAAAAAAATTTAAAAACTAGCCAAGCATGGTGGCATGCGCCTGTAGTCTCAGCTACTAGGGAGGCAGAGGTGGGAGATTAAGCCCAGGAGGTAGAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCC
TGGGGGAGCTGGTCTGCAGGAGTCTGCTTTTAAAAATAAATAAGGATTATAGTAATCATTGCTTCAGCAAGAATCATCCACAGATGCCAAATCCATTGGGTGAAAATTAGTTGCTGAACAAGATATTCTCAAATTATCTACCTGCAGATTATAGGTTAATCATGCAGTGAAAAAAGGCACCTTTGCTGTGAAGAAATCTGGTGGCCTTTCCCTTATCCAAGTGATCAAAGTTATCAATAGAAGCACAGACAGACATCATGTGCCTCCCAGTGTCCTGCACTAGGGAGGCCACAGCATCACCTCTGTCCTGTTCTTGCCCCCACCGACCCCTGAAATGGATTACCTGAATCTAAATTTTGAGGAATAATCAGACAAACCCAAGTTAAGGGGCATGCTACAAAACAACGGCCAGCACATTTCAAAAATGTCAGTGACAGAAAAGAAAGACCTAAGGAAGAGCCATGCCAACGAAAGGCCATATTGGATCCTGAATCCAGAAGGGTGCAAGGTTGCTATAAAGGACATTTTTGGAAAATCTGACAATTCGAATATGCACCATATATTCGACAATAGAATTCTATCAAAGTTTTGTTTCCTAAAATTGAAAATCAAGACTGGTCACGGTGGCTCACACCTGCAATCCCAGTGCTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGATCGAGACTATCCTGGCTAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGACCCAGCTATTCAGGAGGCTGGGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCTGAGATCACGCCACTGTACTCCAGCCTGGGCGACAGAACGAGACTCTGTCCCAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAGAAAATCAAATTGGGGTTATATAACAGAATGCCTTTGTTCTTAGGAGATAACACATTGACATATTTATAAGTAAAGGAACATGACTTCTGCAATTTATTTGCAGATGGTTCAGCAGAACAAGAAATTATGTAGGCGTGTGTCAATATAGACAGAGCAGATGTGGCAAAGTATTAACAATGAGTAAACTCAGGTGAAGAGTTCATGGATGGTCATCATACTATTATAGTAACTTGTCTGTTGTATTGTTGGTTTTCTTGGTTTTCTTTTTTTTTTTTTTTTTTTAAAGACGGAGTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGACGTGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAAACGGTGTAAACCGCGTCTCAACTAACAATACAAAAAAATTAGCCGGGCGTGATGGCGGGCGCCTCTAGTCCCAGCTACTCCGGAGGCTGAGGCAGAAGAATGGTGTGAACCCAGGAGGTGGAGCTTGCAGCGAGCCGACATCGCGCCACTGCACTCCAGCTTGGGCTACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGGGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCATCTCCCAGGTTCAAACGATTCTCCTGCCTCACCCTCCCCAGTAGCTGGGATTACAGGCGTGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTCAAACCCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCGCGACCGGCCTATTGTTGGTTTTCAAAATAAAAACGTTGGAAGTAACCATATAACTGAAGAAGCGCTTAAGCCGTTTTCAGCTACATGTTGTTTGCTGGTCCTATTCTAAAAGCCAGAGCTTGTCCCCGTTCAGATATCGGATTTGGAGAGACACTGCCAACTGGCTGGAGATTAATCCGGACACTGGTGCCATTTCCACTCGGGCTGAGCTGGACAGGGAGGATTTTGAGCACGTGAAGAACAGCAGGTACACAGCCCTAATCATAGCTACAGACAATGGTAAGGGGGCCTCATCTGAGCCTTTGCTGCCTCGACCTCCTAGCTAGTTCAGTTCCTTGCCCCTCCCTTCTTTTGGAGGGAAGAGTTCATTCTTTTTCTTTTATCCTTTTTGTTTGCTGGATTGATTTGTATAAATGTATGGAGTACAAGGGTAATTTTGTTACATGCATAGATGTGTAGTGGTAAAGTCAGGGCTTTTAGGGTATCCGTCACCCAAATAACATGCATTGTACCCATTAAGTAATTGTTCATCATCTACCCCCTCCCACCCCTTGGACCCTTCCCAGCTGCCATTGTCTATCATTCCACAATCTACATCCATGTGTACACATTATCGAACTCCGACTTCTAAGTGAGAACATGCAGTATTTCTCCTTATATGTCTGATTCGTTTCACTTGAGACAATGGCCTCCAGTTTCATCCATGTTGCTGCAAAAGATTTCTCTTTTATTCTTAAACAAAGGCATTCTTATTATCAAAAATTCAAGTGGGCTGGGCACGGTGACTCACACCTGTAATCCCAGCACTTAGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGTAACATGGCAAAACCCTGTCTCTACAAAAAGTACATAAATTAGCTGAGTGTGTTGGTGAGCACCTGTAGGCCCAGCTACTCAGAAGGCTGAAGTGGTAGGATTGCTTGAGTCTGAAAGGTGGAGGCTGCAGTGAGCCAAGATTGCGCCACTGCTCTCCATCCTGGGCAACAGAGCAAGACTCTGTCTCCAAAAAAAAAATTGTTTTTTCAAGTAATTTTGGTCAAACAGAACTTACTTTTCACTACTCACTCTTTATTCCTTCCCTAAGGGAACCAGGTAATGATGGTTTACAATCCATTTCCAAAGCTTAATACTTGTGTGACCTTGGATTTGCTGTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCTTCCGCCTCCCAGGTTCAAGCAATTGTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAAACGGGGTTTCACCATATTGGCCAAGCTGGTCTTGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAGAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTGCTGTTTAATTTTTATGTCCCTCAATTCCTTTACCTGAAAAATGTTAATACCCATGTGGGTGAAATTAGTTAGGTGTTAAATCAGTTAGGTGTGGGTCCTTCCAGACTGCTTCTGTGTATTTAAATACATTTATAGGCTGGGTGCTAGGGTCACACCTGTAATCCCAACACTTTGGGGGTCTGAGGTGGGAGATGGCTTGAGGCCAGGAGTTCAAGACTAGCCTGGGCAACATACTGCCCATAATCTCAAAATGCTGGGATTACAGGCATGAGTTATCATGCTTGGCCTCCTTGAGTTAATTTTAAATGACGTGTGCTCATTGTTAAAAAATAAAATTTACATGAGAAAAAAGTTTTAAAAATTTACAGTCATGCCATCTAGACATATCTATTTATAGGTTTGAGATGGATTCTTCTGTTGTTTTGTATCCGTATCGTATACTAATATTGATGATAGTTCCCTGGGTACCAATTTTTCCTACTACCATATGCTCCGTGTTGTGTCAAGATATAAAAGAAATGCAAACAGAAGTGTGGATGGGCTGGGCGCAGTGGCTCACGCCTATAATCCCAACACTTTCAGAGGCTAAGATGCGAGGATCACTTGAGCTCAAGAGTTCAAGACCAGCCTGAGCAACATGATAAGACCCCCTCTCTACAAAAAAAATTTAAAAACTAGCCAAGCATGGTGGCATGCGCCTGTAGTCTCAGCTACTAGGGAGGCAGAGGTGGGAGATTAAGCCCAGGAGGTAGAGGCTGCAGTGAACTGTGTTCATGCCACTGCATTCCC
Task1_train_22862
Gene VPS4A (vacuolar protein sorting 4 homolog A) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia
CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTT
CCCGTCTCTATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGAGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTT
Task1_train_22863
The gene VPS4A (vacuolar protein sorting 4 homolog A), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGT
TATTAAAAATACAAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCCACTAAAAATACAAAATATTAGCCGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTACACTCCAGCCTGGGCGACTGAGTGCGACTCTGTCTTAAAAAAAAAATTAGCCAGGCATTGTGGCATGTGCCTGTAATCCCAGCTACTCGGGAGGCTGACGCCAGAGAATTCAGAGAATTACTTGAACCCGGGAGGCGGAGATTGCAGTGAGCTGAGATGGAGATTGTGCCATCGCACTCCAACCTGGGCACCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAGCTTCTGGCAGCTGCATTGTTTGACTGGCTTTTTTTTTTTTTTTTCCCCCAGACAGGGCTTCACTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGTTAACTGCAACCTCTGCCTCCCAAGTAGCTGGCACCATAGGTGCGTGCCACCATGCTTGGCTAATTTTGTGTTTTTTGTAGAGACAAGATCTCGCTGTTTCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCCGCCTCAGCCTCCCAGAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGGGCTGTGAGAGCCACTGCAGGTGGCCTCCCAGAGTATGAGGTGTGAGTCACCGCACCTGGCCTGGGCTGCTCTTTAAGTCCAGCTGAAGCACATTTCCCTTACGGCCTTCAGGAGAGGGCCGACCCGGATTCCCATCTGCTCCGCGAAGAAACAGGGCGGGTTATAGGAGTGTTTGCTGGGGGGGTCCTGAAGTGAGCTGCTGAGAGCATTGGCCCAAATGTCCCTGAAGTACTTGCTTGAGTCACACGGCACTGTTAAGCCAGGAAGGCTTCGTTCCTTAACCAGTGTGCAGGCAGCGGAGCCTGGACTTGCTGGGAGCACCTCTGTGCTCCAGGCTGAAGGGCCAGCTTGTGACTTTCCGTCTCCCTTCCCAGCAGTGACAGTGACAGTGAAGGGGATAATCCGGAGAAAAAGAAACTGCAAGAACAGCTGATGGGTAAGTGGCTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTAAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGT
Task1_train_22864
Consider a variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A). Determine its clinical classification and disease relevance.
Pathogenic; not provided
CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGGGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
Task1_train_22865
A variant on Chromosome 16 in gene VPS4A (vacuolar protein sorting 4 homolog A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Syndromic congenital hemolytic and dyserythropoietic anemia
CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGAGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
CTCGCGGCCCTGTGGCAGCGGCAGGGGATGAGAGTGGGTCCGCTGCTGGGTTGGCTCATGCCCCTTGGCCGGGCCCGGGCCCGGGCCGGCCTCCCTCTCGCAGGTGCCGTCGTGATGGAGAAGCCCAACATACGGTGGAACGACGTGGCCGGGCTGGAGGGGGCCAAGGAGGCCCTCAAAGAAGCTGTCATTTTGCCAATCAAATTCCCACACTTGTTCACAGGTGAGAGTTGAGCCATTTCAAACCCCAATGTAAAAATTCCAGGCTTCCGCAGGGCTGGCACTCCGAGGCACCCGGGAGTCAGTGGCGACTCAGCCCCCGGGGCCTGCAGAGGGCCAGGCCTGGCTGCTCGCTGGTGTCCACAACACTGCTGTGGCTGGAGCTATGAGATGACGATCACGTCACAGGGTGGGGGCAGGATCAGGAAGCAGTGCCAGCCGGTGTCACTGTGCAAGGTCATGGGGTCATAGCAGGGGCACTGTGCAAGGTCATGGGGTCATAGCACAGGGCACAGCAGGGAATGTAGCTCCCATCACTTGTTTGCCAGTAGAGTCCGTTGTTTCACAGAATGCCCTGTTTTACTGTATGTATGGGACTCGAGACCCTCTGCTTTTCCTATTCCTTTCCCCAGTCAGGAGGCCTAACTTCTGTGGTTCTCTGTTGCAGGCAAGCGCACCCCCTGGCGGGGGATTCTGCTGTTCGGACCCCCTGGCACAGGGAAATCCTACCTGGCCAAAGCCGTGGCAACAGAGGCCAACAACTCCACCTTCTTCTCTGTGTCCTCCTCAGATCTGATGTCCAAGTGGCTGGGGGAGAGTGAAAAGTAAGTCGGCCACCAGGCCATGCTCTGCCAGCAGCCCCGGCACTGCTAGTGACCCAGCGGCCCACCCTGTGGAGTCACCTCTCAGAGGAGTGGTTTGGTTTTCAGGGAGGGTACCCAAGAGCAGTGTGTCGCTAGCTTATCGGCTGGGACACAGTCCCAACAAAGACAAGTGAAGGTGGAAGGGACCTGGGAGAGGTGAAGTGCTCCACAAGAGAAGGGAAAGGAAGTGAGGATATTTTTGGGGTCTGGGTTGCGGTCCCTGTTGGGGCAGTGTGTGGGGGACATGGTTCCCCACACTGACTCCTGTTTTGCGTGTGATGAGACGGGCTCGGAAGAAGGGGACTGACGTGTTGTAAGTGCAGAGCTAGCGCATGGGGCTCCTGGGATTGAGGCTCTGCGTTTGGGGCTGACACCAAGGTGTGCTCCTCCTCTTGGTGCAGTGTGGCCCGAGGGCTCCTCACCACCACGTTTTCCGCAATTCCGGCATGACCGTGGCCTGCGCCTCCCTGTGGGAAGGGTGAGAAGAGGGAAGTGCCGGGAGCCCAGGCGGGCACGGACGTGAACGTCTTGTCCTCACCCCCTTTCTCACCTTCACAGGCTGGTCAAGAACCTGTTTGAGCTGGCCAGGCAGCACAAGCCCTCCATCATCTTCATCGATGAGGTGGATTCCCTCTGCGGGTCCCGAAATGAAAATGAGAGTGAGGCCGCCCGGAGGATCAAAACGGAGTTCTTGGTCCAGATGCAGGGTGTGTGCCGGGCCCAGGGCCCCCTTGGTTCTTGTTGCACCTGAAGCCAACCCTGGGCTTTATTCTGAGCTGCGGCTGGATTTGGTTGTTCTCAGCCTCGGAGAGGCACTCCCCAGCTCCAGCCCCTCAGGGCACGGGTGGACTTCAATTCCCAAGAGGTGCCTGAGGCCTCTGCCTCACGGGCCACTCCACCCCTCCCATGGCAGGCAGTGCCATAGGTCTCACCTGGCACAGCCAGACCAAGATGTGGTTTAATCTCACTTGGGACCCTGCCAGTGGTGGGTGGCACAGGGATGGCTTCAATTGCTGACACACAAAGCCCCCGGGGTCTGTCCCCAGGTTTCAACTGACCCGTGCAGGTGTCCAGAGTCTGAGTCTTTGTCTCCCTTTCTCCACAGGGGTGGGGAATAACAATGATGGGACTCTGGTTCTTGGAGCCACAAACATCCCATGGGTGTTGGATTCGGCCATCAGGAGGTGGTGAGTCTTCCCCAGGAGAAGCCAGGGCTGGAGGCTTCCTCCCACCATGGTCACGGTCCGCCTGCTGCTGGCAGCCCGGGTGCAGCCTGGCCCCTTTTCCCTGGAGTCTTCCCGTCTGCCTGCCAAGCAGAGCCCTTTGTGAGGCTGGCTTGTTGAGGATGTGCCGCCAGCATCACTGGCCCATGAAATGCGTCCGTTTCACTCAAATCTTCGTGCCTCCCCTTCCGTGAATACCATTCCATCATCCGCTGTCAACTCCTGCCGTGTGCTGGGCTCTCTAGGTTTGAAAAACGAATTTATATCCCCTTGCCGGAGGAAGCTGCCCGCGCCCAGATGTTCCGGTTGCATCTCGGGAGCACTCCCCACAACCTCACGGATGCAAACATCCACGAGCTGGCCCGGAAGACGGAAGGCTACTCGGGCGCGGACATCAGCATCATCGTGCGGGACTCTCTCATGCAGCCCGTGAGGAAGGTGCAGTCGGCCACACACTTCAAAAAGGTGAGTGCCCGCGGCCACTGCTGAGAAAAATCTCATAGTAAGAGCGGGATGTTCGGTTTTTTTTTTCCCAGCTCCTGGTCCTGCTCCCCGGCTGCTCAGGTGACACAGTCTCTGAGGCCTCCTGGAGAGCCGAGGGCCAGTGCCATGGGGGCTGCACCCACTGTCCCCTCCCTGCAGCTCTTCTGGAGTGTGGCCATCTCAGGGTGTGTGAAAGCAGAGGACAGGGCCACTTTACTGTCTTAACCCTGCTGCGGCCTCCTCCGTCAGCACTGTGTGCTCTTGTGCGGGGTGGACACCAAATCAGTGTTTGGAAAGTGTTGGATATAAAATGACCAGGAAGACCTGTCTATTCATTCAGCAGATCTCTGCTGAGTATTTGCTGTGGGTCCTCCTGTGTGCCCGGCCCTGTCCTAAGTGCTGGGAAGATATGAGTGACCAACAGACAAAAATCCTAGACCTTCCGTTGTTGGTGGGGAGACAGTCAACACAGTCAGTGAGTGTCTCAGAGGATGGAGATGGAGCAGGGTTAGGAGAGAGGTGTCTCGGGCATGGAGGGAAGGGCAGATGGCACTGGGGTGATGCCTGAGACAGGAGGTGAAGGTGTGAGGGAATGAGCCTTGTGGACATTGGGGGAATGTTTTGCCAAGGCAGCGGACTTCAGTTGGAAAACCACTTTGTGTTAATCTATTTTCATGCTGCTGATAAAGACATACCCGAGACTGGGAAGAAAAAGAGGTTTAATTGGCCTTACAGTTCCACATGGCTAGGGAGGCCTCAGAATCATGGTAGGAGACCAAAGGCACTTCTTACATGCTGGTGGCAAGAGAAAATGAAGAAACAAAAGTGGAAACCCCTGATAAACCCATCAGATCTCGTGAGACTTCACCATCACGAGAATAGCACGGGAAAGACCAGCCCCCATGATTCAGTTACCTCCCCCTGGGTCCCTCCCACAACATGTGGGAATTCTGGGAGATAGATACAGTTCAAGTTGAAATGTGGGTGGGGGCACAGCTAAACCATATCACACTTTTAATGTCACTGTATTCCTGGTGAGACGTGACAGTGTTAATGAGGAAGACATCAAGGCATTGGGGCTACAGATTGCCAGAGTCCCATGCAAATCATGAGTCGCTCGGACCACCCAGCCCGAGTTCTGAAGGAGCCCGTCCTCCTCAGATGCTAGGGACCCACAGAGCATTCTCTTTGGGACTTCCTTAGAGACCGGAGGGGTCGAGCCCCTCTGACACTGAGGGGCAGCTGCCCCAGTCAGATCCATTTGGTTTCAGGTCTGTGGCCCCTCTCGCACCAACCCCAGCATGATGATTGATGACCTCCTGACTCCATGCTCACCAGGGGACCCAGGAGCCATGGAGATGACTTGGATGGATGTCCCTGGGGACAAACTCTTAGAGCCTGTGGTTTGCATGGTAAGTGACTTGACAGGGGAGGGAAGAGGGCTGCACAGAGCCCAGAAAATTGAGGGTTTGGGTCCAGAATAAAAACGGTCTTCTCCAGGCCAGGCATGGTAGCTCACGCCTGTAA
Task1_train_22866
A variant has been detected on Chromosome 16 in COG8 (component of oligomeric golgi complex 8). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; COG8-congenital disorder of glycosylation
CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAACCTGGTTCCCAACTCTGGTAATTAGGTTATCGAGCTCACTGTAGAGCTGAGATGAGAAATCATCTTTCTACGGTGCGACCCTTCCGAACACTCCTCCCACTTCTGAGGTACCTGTGGGCTCCCAACTCCTAACAGAGGTTCTGCAGCTTGAGACCCCACTTGTTTTTCTGACCATCTTGAACCGACGGGCTTGCTGTGCAGGAACAATCACCCCGACCCCAGCAGAGCCCGCATTCCGCGAGGCATCCTGTGGTACCACGGGGGAATGGCCTAGCCCCCTGGGCTGGGTCAGGCTGGCGGGGGCTAACCCCCACTTCTCCAACTCCACCGTGGCGGATCTAACTGGGGCCGAAGAGCGTGTTTGCCTCAGAGAGCAAGGGAGCAGAAAGCAGACGCCAGGCTGTCAGGTAACAGCGGAACTAGGGGACCTCTCCTCGCCCCTGCGTCCTATCTGAGCGGGCTCTACCCCACAGGAGCTTCTATCCGTCCTGAGGCCTCTCCGCTCCCGCATCCCACTTCGCTCCTGCGGGAGGTCCGGCGTATGAACCGCGACCACTTCTGCGCTCTCGCGGAGTCGGGCAGAAGAGACGCGCGCGCTGCTCCAGCAGCCCCGGTCCCCGCCGCCCGCACCTGAGATCTGCACCGCCTGGAAGCGGGGCACGCAGGCCAGGAAGCCGGCGACGCTCTCGCAGCCCTCGGGAAAGGTGACCAGGCGGCTGTCAAGCACTCGCAGGCTGGGGTTCACGAACACGCGCAGGGGGAAGGGCTCCATTTGGCGGAGCGCGCGCTGGCGGGGCGGGCACTCCCGACACAGCGCCTCGGGGAGCTCCAGCGCCAGCACCTGCCGCGGCACCCCCAGCTGCGGCGCGCTTAGGCCCACGCAGCGCCGCCGCCGCATCACCTGGACCAGCCGTTGCGTCAGCCGCTGCAGCTCGGGCCCGCCTAGCTGCGCCCGCTCCACCGGGGCCGCCACGCCGCGCAGCACCGGGTCCCCGACTTGGCACACGTGCGAGAACGGCGGTTCGGGAGGACCCAGCACCAGACGCCTCAGGTGGCGCCAATAGGAGCGCCGCAGCGCCGGGCCCTCGACGCCGTCCGGGGCGGCCGTGGAGCTGCAAGCCCGGACACCGACGGCTGCCGCCCCGCCCCACGGCACGGCCGCCCACAGTGGCCAAAGACTCAGCGCGCCCCACAGCCGGGCCATGGCGGCCCCCTTAACAGTGACCCGGCCCGCCCCTTCCGGCCGCAGCGCGGGGCACGCCGGGAAGCGCCGTCGGCCAGCACACAGCGAAGCCGCGACTGGATCCCCGCCTTCCTGCTTAGACTGGCAGTGAGCACCGCCCCCTTCCGCTCTCCTCCCGGGAGCGCCTTCCCGCCTCCCGAACCCGCCCCGGACCTTCCAGGGCGAGGCAGTCCTGGCCACCCCGCGCCGGGAACCTCACGCACCGCGTTCTGGAGGCAGGGGACGCCGGCTAGGGCCCCACGCTGGGCGGTTCGGCCTGCGTCTCCGCTCGCCCTCCCTCCGGGCAGGCTGGGCCCGCGGGCTCCAGGCGTGGCTCCTCGGCGGGAGGCTCTGGTGCTGGAGCTGTGAGCTCGGGCCCCAGCGCCTGGTCATCCAGGGTGAAAAGCGTCTCTCTCTTTGGCAGGATAAAGGCGAGGGGCTCCTGAATGGCGCCGATGTTCACATGCCCTAGGTTACCGTACTTGGAGAGCTGAGTGGGAGGAATGCCTAACCCAGACGTGGGGAAAGCAAAATGGAAAACAGTTACTAATAAAACTCAATATAGAAATTTAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGAGGGGGGGGCGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGACCCACACGGAGAAATCCCATCTCTCTTAAAAATACAACATTAGCCGGGCTTGGTGGCGCAGGCCTGTAATCCCAGCTACTTGGGAAGGCTAAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGATTGCAGTTAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCCACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTTAAGGGAAAAAAAACGAGCCATTACTATTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTGCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAACAGTTCTCATGCCTCAGCCTCCGTGGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTACTATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCATCAATTACTATGTTTTAATACAGCAAAAACCACCTTTGTTACAGGGAATGGGAAGCTATACTGTGAAGCAGAACGTAACGGAACAGCAGTGTAGGGTGCCTGCAGCAGGAACCCAGACCTCAGGCAGCACCAGGGAAAAAGCAGAGGGCAGCCAGGCTTTGCACGTGTGATGCACTGACCCATTGCCCTTTGGGAAGCTGTGCCTCAACCAAGCCCCTCTCCTACCACAAAGGGACAAGGACGTGAAAGTGAATTGGAAAAAAGACTTTAGGACGGGCGTGGTGGCTCACGCCTGTAATCCGAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAGGTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACACAAAAATTAGCTGGGCGTGGTGGTGCGAGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGCAACACAGCGAGACTCCGCCTCAAAAAAAAAAAAGACTGTAAAAACCATTTCTCTAGATATTTCACATAAATGGAATCATACGTATGTAGTTCTTTTGTGACTGGCTTCTTCCGCTTAGCCAGATACAGCCACATAATGTATGATTCCATTTTTATGAAATGTCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGGACAAAGAGCTCTTGCTCCCCGCTGCTGAAGGCAGCCTCTTCAGCGCGATGGAAGGCCAGGATTATTTTAGTTACCTAAGAGACAAGGGCACCGTCAATTACTGGGACAGCCTATCACCACTGGGACAGCAGTGCATGAAACTAGGCAAAAAAATGTATGCCCCTCCAGTTTTCCTGAACAAAGTAATTTAACAGTACATTATTTTACTGTCTCATTTAAACTCAGAATTATGGTCATTGTCCACAATTGTGTCACTTTATTAATGTGAAGTTCAGACCCAACTTGTTACATTACGGGTATAGTTTCCGGTTCCAGTGGAGGAGTGTCATAAAACT
CGTTTGTGAACGTCCTGCTGTCCATTTTGTCAATAAACAGGCAGCCCTGCAGGTGGTCCATCTCGTGCTGGATGATGCGGGCTGCCCACCCGCTCGCCTGCCACACCACCTGTTCTCCATTGGGGTCCAGCCCTGCAAAGGAAGTTACAGCCCTGGTGAGTGGGAACAGCTGAACTGCATCATCCTCAACCTCCCTACCCCTGCCCCCGGTCCTGGCTGTTCCCATTGACAAGAGGCAACAGCAGATGGCAAATGTAGACAGCAGCTCCTCTTCTAACTGGAAAACGTCCCTCATCTCGGTCCATTACCAAGCGTTCAACCTGGTTCCCAACTCTGGTAATTAGGTTATCGAGCTCACTGTAGAGCTGAGATGAGAAATCATCTTTCTACGGTGCGACCCTTCCGAACACTCCTCCCACTTCTGAGGTACCTGTGGGCTCCCAACTCCTAACAGAGGTTCTGCAGCTTGAGACCCCACTTGTTTTTCTGACCATCTTGAACCGACGGGCTTGCTGTGCAGGAACAATCACCCCGACCCCAGCAGAGCCCGCATTCCGCGAGGCATCCTGTGGTACCACGGGGGAATGGCCTAGCCCCCTGGGCTGGGTCAGGCTGGCGGGGGCTAACCCCCACTTCTCCAACTCCACCGTGGCGGATCTAACTGGGGCCGAAGAGCGTGTTTGCCTCAGAGAGCAAGGGAGCAGAAAGCAGACGCCAGGCTGTCAGGTAACAGCGGAACTAGGGGACCTCTCCTCGCCCCTGCGTCCTATCTGAGCGGGCTCTACCCCACAGGAGCTTCTATCCGTCCTGAGGCCTCTCCGCTCCCGCATCCCACTTCGCTCCTGCGGGAGGTCCGGCGTATGAACCGCGACCACTTCTGCGCTCTCGCGGAGTCGGGCAGAAGAGACGCGCGCGCTGCTCCAGCAGCCCCGGTCCCCGCCGCCCGCACCTGAGATCTGCACCGCCTGGAAGCGGGGCACGCAGGCCAGGAAGCCGGCGACGCTCTCGCAGCCCTCGGGAAAGGTGACCAGGCGGCTGTCAAGCACTCGCAGGCTGGGGTTCACGAACACGCGCAGGGGGAAGGGCTCCATTTGGCGGAGCGCGCGCTGGCGGGGCGGGCACTCCCGACACAGCGCCTCGGGGAGCTCCAGCGCCAGCACCTGCCGCGGCACCCCCAGCTGCGGCGCGCTTAGGCCCACGCAGCGCCGCCGCCGCATCACCTGGACCAGCCGTTGCGTCAGCCGCTGCAGCTCGGGCCCGCCTAGCTGCGCCCGCTCCACCGGGGCCGCCACGCCGCGCAGCACCGGGTCCCCGACTTGGCACACGTGCGAGAACGGCGGTTCGGGAGGACCCAGCACCAGACGCCTCAGGTGGCGCCAATAGGAGCGCCGCAGCGCCGGGCCCTCGACGCCGTCCGGGGCGGCCGTGGAGCTGCAAGCCCGGACACCGACGGCTGCCGCCCCGCCCCACGGCACGGCCGCCCACAGTGGCCAAAGACTCAGCGCGCCCCACAGCCGGGCCATGGCGGCCCCCTTAACAGTGACCCGGCCCGCCCCTTCCGGCCGCAGCGCGGGGCACGCCGGGAAGCGCCGTCGGCCAGCACACAGCGAAGCCGCGACTGGATCCCCGCCTTCCTGCTTAGACTGGCAGTGAGCACCGCCCCCTTCCGCTCTCCTCCCGGGAGCGCCTTCCCGCCTCCCGAACCCGCCCCGGACCTTCCAGGGCGAGGCAGTCCTGGCCACCCCGCGCCGGGAACCTCACGCACCGCGTTCTGGAGGCAGGGGACGCCGGCTAGGGCCCCACGCTGGGCGGTTCGGCCTGCGTCTCCGCTCGCCCTCCCTCCGGGCAGGCTGGGCCCGCGGGCTCCAGGCGTGGCTCCTCGGCGGGAGGCTCTGGTGCTGGAGCTGTGAGCTCGGGCCCCAGCGCCTGGTCATCCAGGGTGAAAAGCGTCTCTCTCTTTGGCAGGATAAAGGCGAGGGGCTCCTGAATGGCGCCGATGTTCACATGCCCTAGGTTACCGTACTTGGAGAGCTGAGTGGGAGGAATGCTTAACCCAGACGTGGGGAAAGCAAAATGGAAAACAGTTACTAATAAAACTCAATATAGAAATTTAAGGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGGGGAGGGGGGGGCGGATCACCTGAGGTCAGGAATTCGAGACCAGCCTGACCCACACGGAGAAATCCCATCTCTCTTAAAAATACAACATTAGCCGGGCTTGGTGGCGCAGGCCTGTAATCCCAGCTACTTGGGAAGGCTAAGGCAGGAGAATCGCTTGAACCTAGGAGGTGGAGATTGCAGTTAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCCACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTTAAGGGAAAAAAAACGAGCCATTACTATTTTTTTTTTTGAGACAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATTGCTGCTCACTGCAACCTCTGCCTCCCAGGTTCAAACAGTTCTCATGCCTCAGCCTCCGTGGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGAGTTACTATGTTGGCCAGGCTGGTCTCAAACTCCCAACCTCAGGTGATCCATCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCATCAATTACTATGTTTTAATACAGCAAAAACCACCTTTGTTACAGGGAATGGGAAGCTATACTGTGAAGCAGAACGTAACGGAACAGCAGTGTAGGGTGCCTGCAGCAGGAACCCAGACCTCAGGCAGCACCAGGGAAAAAGCAGAGGGCAGCCAGGCTTTGCACGTGTGATGCACTGACCCATTGCCCTTTGGGAAGCTGTGCCTCAACCAAGCCCCTCTCCTACCACAAAGGGACAAGGACGTGAAAGTGAATTGGAAAAAAGACTTTAGGACGGGCGTGGTGGCTCACGCCTGTAATCCGAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAGGTCAAGAGATAGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAACACAAAAATTAGCTGGGCGTGGTGGTGCGAGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGCAACACAGCGAGACTCCGCCTCAAAAAAAAAAAAGACTGTAAAAACCATTTCTCTAGATATTTCACATAAATGGAATCATACGTATGTAGTTCTTTTGTGACTGGCTTCTTCCGCTTAGCCAGATACAGCCACATAATGTATGATTCCATTTTTATGAAATGTCCAGAAGAGGCAAATCTATGGCAACAGAAAGTAGGTTGCCAGGGACTAAGGATGCTGTCGAGGAATGACTACAAACGTGCATGAAGGATCTTTTTGGAGTGATGGAAATATTCTAAAATTGGATTCATATTTACTAAAAAACACTGACTTACACAAATGGATGAATTATTTAGTATGTGAATTACACATCAGTAAGGCAGTTTACAGAATTTTCATTCTCTTACCTAAAGTCTGTGCTATCTGAGCTGGTGGAAAAAGGACTTGGAGACAGCGATTTAAATACGGAACAAGGTCTTCCAGGAAGACAGTGCAGAACTGGACAAAGAGCTCTTGCTCCCCGCTGCTGAAGGCAGCCTCTTCAGCGCGATGGAAGGCCAGGATTATTTTAGTTACCTAAGAGACAAGGGCACCGTCAATTACTGGGACAGCCTATCACCACTGGGACAGCAGTGCATGAAACTAGGCAAAAAAATGTATGCCCCTCCAGTTTTCCTGAACAAAGTAATTTAACAGTACATTATTTTACTGTCTCATTTAAACTCAGAATTATGGTCATTGTCCACAATTGTGTCACTTTATTAATGTGAAGTTCAGACCCAACTTGTTACATTACGGGTATAGTTTCCGGTTCCAGTGGAGGAGTGTCATAAAACT
Task1_train_22867
This genomic variant is located on Chromosome 16, within the AARS1 (alanyl-tRNA synthetase 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Trichothiodystrophy 8, nonphotosensitive
TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCCCGGGGGAGCGCGGCGCCGGCGGCCCGCGAAGGGTGCGCGGCGGAAGTCGCAGAGCAGGCGACCGCGCAGCGCGGCCGGGGCCTCGCCGCCTGCTCCGGCCGGGCCGCCGCCGCGCTCGCCGCCCTCGGCCTGTCGCGGGCCCGACACGGCACACAGCACCTTGGTGCCTCCCGCCTCCAGGTAGGCCGAGCCCTTGGCCTGGCTCAGCAGCCCGGCGCGCGCGTACACGGGCCGTAGCCGCGTTGGGTCGCGGGTGCCGGGCGCCTCCTCCTCGTCGGCCGCGTACAGCTGCGGCGGCTGCGATTCTTCAGGGCCGCGGATGCGGCGGTGATCCCCAGGCATGGCGGTTCTTGGCGTGCGAACCCCTTCCGCCCAACGCCCTGCCGCATCCACTGGTTCTTCCGTTGTTTAAAGACGCGCGGCTGCGCATGGGCTGTCGAGAGAGCGGCGGGAGGCACTACAGCGCCCCTGGAGGCCCGGAGGGAGAACGGCCCGGTCCCAGTTGTGCAGGGTAGCCGGATCCATCCATCTTGCTGGAAGGGAGGGGGGAGAGCAGCTCCAAGAAAGGCTTCTCTGCTTCCAACTACCTCCACCCCTCATCTACTGAATTATGAACGCCTTGCTCCAAGTCACCCCACCTATTTGGCCTCCACCTCCACAGACGTTTGAGGCAGCCCTAGGGGCTGTTCCCAAAATTTTGGGTTCTGGGGCTGGACTAGGTGAACACCACAGCAGCCAGCAGGAGCCACAGCATTTATTCTACAGACGCCAAAGGCTGTCAAAAGAGCCAGCCCCTATTGGGAAGAGGGATAGAGATCATGCGGCATTAAGTATTGCACGTGGTCCTTTTATTCTCTGCAGCAAAAACGATTCCTACTTGCTGACGCGGAAAGCTCAGGTCTGGAGAGCCGTTATCTATAGATGCGAGCGTGACGATCAACAGCAATGCGGGGTTAGTGGTTCTAGACCGATGGCACTGACGTGGAGGGCTCAGGGCAGAAATTTAAGGGGCACTGAGACATAGGACTGCTCCCAAGTGTGTTCCAGTTACTGCTGGGTTAGGAGGGGCTCTTTAAAGGTCCCAAGATTCAAATGTTCTTGTAGCAGATGAAGAGCTCTTGGCTGGACGGATGGATCCAGTGGGAGCCTCCTCCTTCCCCACTCAGTTCTTTACATCCCCGAGGCGCAGCTGGGCGAAGGAAGTGGCCAGCTGCAGCGCCTCCTGCAGGCAGCCAACGTTCTTGCCTGTGGCCTGTGCAGACACATCCTTGCCACCACCTTTACCGTCCATCAAGCCTGACACCTGCTGCACCCACTCGCTGGCTTTTAAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTCAGCACAGAAGATGGGATTGAGGGAGGAATGCAGGGAAAGAAAGGATGGAGGAGCCATCACCCACTCCTTGCCCTGGGTGATACTGCTGGAGGCCGAGACAGACTTTACGGCTGGTACAGGGGGCGGCCATGGCCACTGCCAGGACAGGACAGAGTGGCAAAGCCAGGTATCAACCAGATGTCTTCACCAATAAGAAGGCCTGGGTAAGGGGTACTGGCAAAGGTAACCAACCGGTGGGCAGAAAGGCTGTTTCGAATGCAGGCTGTACACACACAGGCCTCAGCCAACAACCTTAAGACCTAACACTTCCCACTGGTGCGAGGTGGTGCTGACCTGGGGAACTTGACACAGGCACGTGATCTTGCCAGCCTCATTGTCCACCGTGAAGAGCATGGCAGAAGTCTGAGGGGAGTGCATCTTGAAGAGCTTCAAGGCTTCATTCAGGGCCTGTGGGGAGGACCTGGCTCAGGCCACGGTGCTGGAGCAGGGACCCTCACTAGTGTGAGCATTTGCAGCCCTCAGAAGGCCTGCCACCCACCCCTACCCCTTCCCAGAGCAGGGGCTGTGCCCAGGGCCTGTGGGGAGGACCCCAGCGCCGGGCCCTGCCCCTACCCTGGCCCAGGTATGCCTCCCACATGCAGGGAGCTGCTGCTCCTCCCAATCTCAATCCCAGACCGTGGGCCCTTAGGCAACCACTTCGCTCAGAGCCACAGAGGCCACATGTCAGCCACCAGAGAGCTGATGAGCCCTAGGGGAGGGGACCCTGGCCCCTGGGTTGCCTTGGCTGAGGCGCCGCTCTCCATCTCCAGGATGACAAGAGGCTGGTTGGGGTTGCTGTCGATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGG
TGATTCAGCACAGGCATGAGCGCCACGGTGAGGCCGGCGGCGGCGCGCTCTTCCTCGAGCCGCGTGGGGTCCAGGAGCCAGGTGGGCGCGGGCCCCGGCGCGAGGCTGAGGCCGCAGCCCACCACCAGGTCGTACATCTCCACGCCCGCGTCGGCCAGGGCGAGCGCGGCGGCGGTGAGCGCGGCGGCCAGGGCCGAGCCACCGTCCTCCAGCAGCAGCGCCGACACCTCGAGCTGCGCGCGCGGGTAGCGGCCCAGGCGCACAGCCGGCTCCAGCGCCTCCTGCAGCGCCAGCGCCAGCTCACGCTCCTCGCAGCCGCCCGGGGGAGCGCGGCGCCGGCGGCCCGCGAAGGGTGCGCGGCGGAAGTCGCAGAGCAGGCGACCGCGCAGCGCGGCCGGGGCCTCGCCGCCTGCTCCGGCCGGGCCGCCGCCGCGCTCGCCGCCCTCGGCCTGTCGCGGGCCCGACACGGCACACAGCACCTTGGTGCCTCCCGCCTCCAGGTAGGCCGAGCCCTTGGCCTGGCTCAGCAGCCCGGCGCGCGCGTACACGGGCCGTAGCCGCGTTGGGTCGCGGGTGCCGGGCGCCTCCTCCTCGTCGGCCGCGTACAGCTGCGGCGGCTGCGATTCTTCAGGGCCGCGGATGCGGCGGTGATCCCCAGGCATGGCGGTTCTTGGCGTGCGAACCCCTTCCGCCCAACGCCCTGCCGCATCCACTGGTTCTTCCGTTGTTTAAAGACGCGCGGCTGCGCATGGGCTGTCGAGAGAGCGGCGGGAGGCACTACAGCGCCCCTGGAGGCCCGGAGGGAGAACGGCCCGGTCCCAGTTGTGCAGGGTAGCCGGATCCATCCATCTTGCTGGAAGGGAGGGGGGAGAGCAGCTCCAAGAAAGGCTTCTCTGCTTCCAACTACCTCCACCCCTCATCTACTGAATTATGAACGCCTTGCTCCAAGTCACCCCACCTATTTGGCCTCCACCTCCACAGACGTTTGAGGCAGCCCTAGGGGCTGTTCCCAAAATTTTGGGTTCTGGGGCTGGACTAGGTGAACACCACAGCAGCCAGCAGGAGCCACAGCATTTATTCTACAGACGCCAAAGGCTGTCAAAAGAGCCAGCCCCTATTGGGAAGAGGGATAGAGATCATGCGGCATTAAGTATTGCACGTGGTCCTTTTATTCTCTGCAGCAAAAACGATTCCTACTTGCTGACGCGGAAAGCTCAGGTCTGGAGAGCCGTTATCTATAGATGCGAGCGTGACGATCAACAGCAATGCGGGGTTAGTGGTTCTAGACCGATGGCACTGACGTGGAGGGCTCAGGGCAGAAATTTAAGGGGCACTGAGACATAGGACTGCTCCCAAGTGTGTTCCAGTTACTGCTGGGTTAGGAGGGGCTCTTTAAAGGTCCCAAGATTCAAATGTTCTTGTAGCAGATGAAGAGCTCTTGGCTGGACGGATGGATCCAGTGGGAGCCTCCTCCTTCCCCACTCAGTTCTTTACATCCCCGAGGCGCAGCTGGGCGAAGGAAGTGGCCAGCTGCAGCGCCTCCTGCAGGCAGCCAACGTTCTTGCCTGTGGCCTGTGCAGACACATCCTTGCCACCACCTTTACCGTCCATCAAGCCTGACACCTGCTGCACCCACTCGCTGGCTTTTAAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTCAGCACAGAAGATGGGATTGAGGGAGGAATGCAGGGAAAGAAAGGATGGAGGAGCCATCACCCACTCCTTGCCCTGGGTGATACTGCTGGAGGCCGAGACAGACTTTACGGCTGGTACAGGGGGCGGCCATGGCCACTGCCAGGACAGGACAGAGTGGCAAAGCCAGGTATCAACCAGATGTCTTCACCAATAAGAAGGCCTGGGTAAGGGGTACTGGCAAAGGTAACCAACCGGTGGGCAGAAAGGCTGTTTCGAATGCAGGCTGTACACACACAGGCCTCAGCCAACAACCTTAAGACCTAACACTTCCCACTGGTGCGAGGTGGTGCTGACCTGGGGAACTTGACACAGGTACGTGATCTTGCCAGCCTCATTGTCCACCGTGAAGAGCATGGCAGAAGTCTGAGGGGAGTGCATCTTGAAGAGCTTCAAGGCTTCATTCAGGGCCTGTGGGGAGGACCTGGCTCAGGCCACGGTGCTGGAGCAGGGACCCTCACTAGTGTGAGCATTTGCAGCCCTCAGAAGGCCTGCCACCCACCCCTACCCCTTCCCAGAGCAGGGGCTGTGCCCAGGGCCTGTGGGGAGGACCCCAGCGCCGGGCCCTGCCCCTACCCTGGCCCAGGTATGCCTCCCACATGCAGGGAGCTGCTGCTCCTCCCAATCTCAATCCCAGACCGTGGGCCCTTAGGCAACCACTTCGCTCAGAGCCACAGAGGCCACATGTCAGCCACCAGAGAGCTGATGAGCCCTAGGGGAGGGGACCCTGGCCCCTGGGTTGCCTTGGCTGAGGCGCCGCTCTCCATCTCCAGGATGACAAGAGGCTGGTTGGGGTTGCTGTCGATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGG
Task1_train_22868
This variant impacts the gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2N
GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGACGCGCGCCACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCGGCCTGATTCACATATATTTTAAAAGACTAAACATAGGAAAGCTAGGAGATCTTGTGTGGTGGCAGGTTTCTTCTGCCACTCAGGGGTAGGACACTGGGGCAGGGGGAGTGGCCCAGCCTGTACTTTCACTCTGACTGCAGCAGCCACGCAGAGCAGTGTTTGCTCTATGGATTCGCAGACTGGGCTCCTCTTGCCTTCTTCAGATAAGCCACAAACCAGCCTGACCTGCTCACCTTCTGGGCCTCGGCACCTGTGACAGCCACAATCCTCCGGATACCCTTGGCAATGGCTTCTTCCGTCACGATCACAAAAGCTCCTGCATGACTCGAGTTCCGCAGGTGCCTGAATGGCAGAACACAAAGTCCATAGTGAAAGAGGCCCTGGCAGCCCTTGGCTGGGGGGTCACACTAGCGGACAAGAGAAGCAGGAATGGGTTGACAGTCAGGGAAAGCCTGGGCTTGAGAGTATTCTGACACCAAGCGGGACACCAGCTCGCTGAGCCTGAGTGTTCTCAGTTCTCAAATGGGGATGATTCTCCCCACACAGTTGCTGTGAAAATCAAATGAGGTAAACATGAAAGTGCTTTGTGGTCCCTAATATCCAATACAGTCTTACCCTTAGGCTCTACGTGACAGTTTTGGTCTTGTAGTGGAACTTAAGCTCCATTTTTGTATTCTGCTCACTAGGTGACAATTTTGGAGGATTACTTTTAAAATCTTACCACAACCCCTTAAACAGGCTTTATTTCTCAGTTCAGAGAACCTCAAATGTTCATTAATTCATCCTCATTCTTTGAAGATAGTATAGTTTTTTTTGTTTGTTTGTTTTGAGACAGAGTCCTGTTCTGTTGTTCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCACAACCTCTGCCTCCCAGTTTCAAATGATTCTCTTGCCTCAGCCACCCAAGTAGCTTGGATACAGGTGCCCGCCACCACTCCTAATTTTTGTATTTTTAGTACAGACAGGTTTTCACCATGTTGCACAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCTAAGTGCTGGGATTAAAGGCATGAGGCAACATACCCAACCCTTGGTATAAAGTTTTTGAAAGCTGTTTCCTGTAGTCTAAAGGGTATGAGCAAACAGGTAATCAGGCAAAGTGGGACTCGTTTGAAGGCCCAATTCAGCTGGGCAGAAAAGCCTTGAACTCAATCCCCCAGGCCCCTATCCTACTCTCTGCACATCCTACTTGCTCCCTGCCTGCCAGAGGCCTGCAGGAGACCCTGGAGGGTCTCAACCATGACATTAAGAATGTTCTTTTCAGCCGGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCCTGGAGGTGGAGGTTGCAGTTAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAATGAAACTCCGTCTCAAAAAAAAAAAAAGAATGTTCTCTTCATGGCTGGGCATGGGGGCACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGAAGCCAGGAGGTAGAGGTTGCAATGAGCCGAGACTGTGCCACTACACTCCACCCTGCGGGACAGAGCAAGACTCCACTTCAAAAAAACAAACAAAAAAAACCACAATTCTTTTCACAAGGCTTCATTTGGAAGCAGAAACTTTCCAGGCCACCATGACCTTCCCAAAAAGGCCCAGAGAGATACAGAGGAATCCAAATTGGCAGAAGTGGCTATCCCAAGCCAAACTGAGCTGAGTCAACCACGTGGCCTGCTCGGGGGCTCTGAGACAATGGAGCTACATTCCCCAGATGCCGCCCAAGCTGTCAAAGGAAATTAGGTGAGATACCAGGAATGGGAAGGGCTAGGCCCACATCAAGAGCTCAACAAGCACTCCAGGCCTTGCTGAATCCCAAATTCACACAAGCCTTCTTGCTAGTTTCAGCCCAGCAAACAACAGCAAGCAACTGTGTGGTAATGTGAATACAATGTTTTCCCCCTTTTCCTCCTGGGAATGTTTCGTCAGGAAATGTTACCTTCAGATACAGGGATCTAATG
GATGAACTGCTTCGTCTTCTCTAACACCTGCAAGAAAAAAGTCCAGAACAGCAGCTCAGACCAAAAGCCCAGGCCCCGAACCCCTGGCTGTTCTGCCAGCCTTTGCCTAGGAAACACTCTGGCCACTGGTGCTGCCAGGACTCACTCGTTTCTGGACATCGGCTTTGCTGGCTCGGTCCAAGTCATCCATGACCTTCTTTAGGGATTTGAGAGTCTCCCGCAATTCATCCTTCTGCCACTGGGGGATGACTGCAGTGGCCAGGGCCTGGAACCAATAGACGACCATCTCAATCTGGGCCACAACTTGCTGGGATGTCAGGGTCCAGCCCACCCCACCCGAACCCAAGTCCTCCCTGACTAGTGTCCTGGAAAGGAAAGCAAGGAAAGCTTTGAGACCAGTCCCTTTAGGAGCAGCTGTGGCAGGTGAAACAAGCAGGGCTAGAGAGAAAGGAGCAGCAGAAAGCTGGGCTCCCAAATCAGGCCCGGTCCTTACCAGGCTGGGAACAGCCTGTGATAAGCTTCCTGGCAGCTTGAAATGCAAATAAATACCAGGCAGGCTTGGAAGCAGGGGCCAGCCTTAGCCCATTCCCCAAATCCCTCCACCCCAGTGCCCATACATGCTTGGGAAGAGCTCTCCTGCTAGCAGCACTGGGAGCAGCAGGGAATGTCCAGGGTCCAAGGACAGGATCCATGGGGTCCCTGCTACAAGGCTACAGGACAACAGAAGTCAGCCCAAAGGCCCATTCCACCAAGAACCAGGGCCTGACTGACTACAGATGATTTCCTGAAGACGGGGCATGTTTCATGCACCAGGCCCTGAGGACGGAGGGAGGGAAGCCGCCCCTACCTCTCCAAGGTCAGCGATCTCCCTCTGCACATCCTTGTTTGGAGCAGTCTGAGCCTTCACTTTGGCTTCCATGACAGAGAGACATTTCTTCAAGCTCTCTGCTTTCCTGAGGGCCTGGGAGGGGACACCGGGTCAACCCCAAGCAGGAGGTCTGAGTCAGACTCACTATCCTGTGTCTGAGCAGCTGCGGAAGCCCCGGCGGTAGGCCTTGCAGCAACATACCCCAACACCCCAAAAGTGTCTGTGGGGAGTAGGTGCTGGCAGCCCCAGGCCCCAGCAAGGAGCACAGTGCTCACAGGCCCATTGGCAAAGGCTGCACCCAACTCAGACTCAGGGGTGATCAAGCTCGAGAATCAGGAGCCCCTTCCCCCAGGAAGTGGCCACCCCTGGGGCTTTAGCACAAGTCAGACACACCAGTTCCCATGAAAGAGCACCCATCCTCTACTGCACGGCCTCAGACTAAGCACGCCCCTAGGAGTACATGGATCAGCGCTGGGGGCCCCGATGCCACAGCGAATCTATGTCTTACCCTCCTCCACATGGAGACAGGAGGGGGTAGATGGCCAGATTCACATTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCCCCGTCACCCAAGCTGGAACGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCCCAGCCTCCCAAGTAGCTGGGATTACAGACGCGCGCCACTACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAGTATGTTGGTCAGGCTGGTCTCGAACTCTTGACCTAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCCGGCCTGATTCACATATATTTTAAAAGACTAAACATAGGAAAGCTAGGAGATCTTGTGTGGTGGCAGGTTTCTTCTGCCACTCAGGGGTAGGACACTGGGGCAGGGGGAGTGGCCCAGCCTGTACTTTCACTCTGACTGCAGCAGCCACGCAGAGCAGTGTTTGCTCTATGGATTCGCAGACTGGGCTCCTCTTGCCTTCTTCAGATAAGCCACAAACCAGCCTGACCTGCTCACCTTCTGGGCCTCGGCACCTGTGACAGCCACAATCCTCCGGATACCCTTGGCAATGGCTTCTTCCGTCACGATCACAAAAGCTCCTGCATGACTCCAGTTCCGCAGGTGCCTGAATGGCAGAACACAAAGTCCATAGTGAAAGAGGCCCTGGCAGCCCTTGGCTGGGGGGTCACACTAGCGGACAAGAGAAGCAGGAATGGGTTGACAGTCAGGGAAAGCCTGGGCTTGAGAGTATTCTGACACCAAGCGGGACACCAGCTCGCTGAGCCTGAGTGTTCTCAGTTCTCAAATGGGGATGATTCTCCCCACACAGTTGCTGTGAAAATCAAATGAGGTAAACATGAAAGTGCTTTGTGGTCCCTAATATCCAATACAGTCTTACCCTTAGGCTCTACGTGACAGTTTTGGTCTTGTAGTGGAACTTAAGCTCCATTTTTGTATTCTGCTCACTAGGTGACAATTTTGGAGGATTACTTTTAAAATCTTACCACAACCCCTTAAACAGGCTTTATTTCTCAGTTCAGAGAACCTCAAATGTTCATTAATTCATCCTCATTCTTTGAAGATAGTATAGTTTTTTTTGTTTGTTTGTTTTGAGACAGAGTCCTGTTCTGTTGTTCAGGCTGGAGTGCAATGGTGTGATCTTGGCTCACCACAACCTCTGCCTCCCAGTTTCAAATGATTCTCTTGCCTCAGCCACCCAAGTAGCTTGGATACAGGTGCCCGCCACCACTCCTAATTTTTGTATTTTTAGTACAGACAGGTTTTCACCATGTTGCACAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCAGCCTCCCTAAGTGCTGGGATTAAAGGCATGAGGCAACATACCCAACCCTTGGTATAAAGTTTTTGAAAGCTGTTTCCTGTAGTCTAAAGGGTATGAGCAAACAGGTAATCAGGCAAAGTGGGACTCGTTTGAAGGCCCAATTCAGCTGGGCAGAAAAGCCTTGAACTCAATCCCCCAGGCCCCTATCCTACTCTCTGCACATCCTACTTGCTCCCTGCCTGCCAGAGGCCTGCAGGAGACCCTGGAGGGTCTCAACCATGACATTAAGAATGTTCTTTTCAGCCGGGCGTGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGATCAGGAGTTCAAGACCAGCCTGACCAACGTGGAGAAACCCCCTCTCTACTAAAAATACAAAATTAGGCCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGCTCACGAGGTCAGAAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGACTCGCTTGAACCCTGGAGGTGGAGGTTGCAGTTAGCCAAGATTGCGCCATTGCACTCCAGCCTGGGCAATGAAACTCCGTCTCAAAAAAAAAAAAAGAATGTTCTCTTCATGGCTGGGCATGGGGGCACATGCCTATAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCGAAGCCAGGAGGTAGAGGTTGCAATGAGCCGAGACTGTGCCACTACACTCCACCCTGCGGGACAGAGCAAGACTCCACTTCAAAAAAACAAACAAAAAAAACCACAATTCTTTTCACAAGGCTTCATTTGGAAGCAGAAACTTTCCAGGCCACCATGACCTTCCCAAAAAGGCCCAGAGAGATACAGAGGAATCCAAATTGGCAGAAGTGGCTATCCCAAGCCAAACTGAGCTGAGTCAACCACGTGGCCTGCTCGGGGGCTCTGAGACAATGGAGCTACATTCCCCAGATGCCGCCCAAGCTGTCAAAGGAAATTAGGTGAGATACCAGGAATGGGAAGGGCTAGGCCCACATCAAGAGCTCAACAAGCACTCCAGGCCTTGCTGAATCCCAAATTCACACAAGCCTTCTTGCTAGTTTCAGCCCAGCAAACAACAGCAAGCAACTGTGTGGTAATGTGAATACAATGTTTTCCCCCTTTTCCTCCTGGGAATGTTTCGTCAGGAAATGTTACCTTCAGATACAGGGATCTAATG
Task1_train_22869
Given this context: Chromosome 16, gene AARS1 (alanyl-tRNA synthetase 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Charcot-Marie-Tooth disease type 2
GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTC
GCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTTATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTC
Task1_train_22870
Located on Chromosome 16, this mutation impacts AARS1 (alanyl-tRNA synthetase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Charcot-Marie-Tooth disease axonal type 2N
AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCCGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTCAAGCTGCCACCTCTCCAGTCCCTGCTGGTTAA
AATAAAAAATAAAAAAAAATAAATAAAAAAATTGCCAGGCGCGGTGGCGGACACCTGTAGTCCCAGCTACTAGAGAGGCTGAGGCAGGAGAATGGCATGACCCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAACAAAAACAACCTCACCTGGACAATTTTCTATTTCTTTTTTTTTGAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGTACTGGTGTGATCTCGGCTCATTGCACTCTCCAGCTCCAGGATTCAAGCGATTCTCCTGCTTCAGTCTCCCGAGTAGCTGGGATTATGGGTGCCCGCCATCATGCATGGCTAATTTTTGCATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAGTGATGGGATTAAAGGTGTGAGCCACTGTGCCCAGCCTTACACATCTATTTCTTTTTCTTTTTCTTTTTGAGATGGTGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATTTTGGCTCAATGCAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCATGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGGCAGGCTGGTCTTGAACTCATGACCTCGTGATCCGCCCGCCTCGGCATCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACACCCAGCTGACAAATCTATTTCTTGATCTGAATGTGTGTTCAATTTGTGAAAATTCATCAAGCTTTTCCCTTGTTCATTATACTTCAATAAAGAATCTTTGGAAACTGGGGAGAAAATCTTTGGAATTAATTTTCCCCAAATTGCAAAACAGTACATACCAAATATTCCCACTTTTGCTTGAAAAATACACACACACAAATATCTACATGTATTTGCATGCAAACAGAGAAGAATCCTGAAGAGTTCTACACCAAACCATTAAGAGTTGTTCCCTCTGAGAAATGAGTGTGGAAAAGAGGATTTTCATTTTCTGAACACTTTTGTATTCTGTATTGTTTGAATACTTTGGCCACAATGATGCATTACTTTTACCATTTTACTATAAATTCCAGTTTGCACCAAAAGCAATTCAATCAAGCTATGTTCAGCCTCAGAGACATGAGAGCCCACAGTCAGTCTGTCAGAAAGGGCTTGTCTTTCCCAGAAAGATCAAACGGCCAGGATGGAGAAGGGCAAAAACTGGTACCTACCGGGAATGGTCTTGCTGTCTCCCAGGCTCTGAATTTTCCTGTCCAGGATGCGACGCCCTCTGCTGAGAGTCTTGAGAAACTGCACCTCTTCTTCATTAATGATGTCCTTCACCATGTCTGGGTCCTTCTTCAGCTCAGGAAATGCATCTCCCTGACAAAGGGGAAGCAAGATGAGGGGCTGGATGAAGCCAGAGACTGTTCCCTGCCCCGTCTTAAAAAAGCTCCTTAGCTGGGTGCAGTGGCTCACGCCTGTAATCCTACCACTTTGGGAAGCCGAGGCAGGTGGATTGCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACGGTGAAACCCTGTCTCTACTAAAACAGAAAAGATTAGCCAGGCTTGGCGGTGTGCACCTGTAATCCCAGCTATTCGGAAGGCTGAGACAGGAGAATCGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCAAGATCACTCTATTGCACTCCAGCGTGGGTGACAGAGTGAGACTCCGTCTCAAAAAACAGCAACAAAAAGCTGCTTAACAGTATGCCCTCTCCCACTCCATCCCTCTTAACGGACTGCTTTAGCACAGAAGGGTAAGCAGAGAAATAAACCTACCAGGGACTGGACGACAACATCCACTAACGTAGCAAAGAAGCCCCTGCTGGCATTGAGCTTTTCATGGGCGTATCGGACAGCTCGGCGGAGAATCGGTCTCAACACATATCTGTAAGAGGCAAAAACTAGTCCCCAACGTTCCCAGCTGAGGGTTTTGTCTTGAGTCCCTTGGAATCCTACCCAAAGCAACACCTCTTTCAGGAACTTTCTTTTATCCTAAGCCTGCTTCTTTCGCATTCCCCAAGGTCATTAATTTTAGCACAAGACTCAGTAACATACCCACAAATACCCGTCAAGGCTTCCCTAGGGTAAACGCTGGTTTGTTTTCCTTTCACATTCAGTTACCCATAGAGGGAGGAAAGATGGACAGACCAGATGTGTACTTGATGCCTGTGATCCCAGGTCCTGCCTGTCAGTAAGAGAGATTCCCAGGGCTGGTCAATACCTACCCTCACCCTGCCCCTGCCAATCTCCTATCAGGCAACTTTGAATACAATCCTTATCATCTGTACTCAGCAGCAGAGATTTAATATAGTGGCAACTCTGTGACACTAGCTGAAACTCCCTTCATCCCTTAAAAAAGGGGTGGGGGATTCTTCCACCTGCCCAAGACAAGGAAACAATAACGAAAGATGGCTTTAAGTTTCATAAAGAGGCCGGGCATGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGTCGTAGCAGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCACCTCTGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTGTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTTGGGAGTTTGAGACCAGCCTGACCAACATGGAAGGAACCCCATCTTTACTAAAAATACAAAACTAGGCATGGTGGCTCATGCCTGTAATCCCATCTATTCGGGAGGCTGAGGGAAAAGAATTGCTTGAACTCAGGAGGTGGAGGTTGCGGTGAGCCAAGATCGGGCCATTGCACTCTAGCCCGGGCAACAAAAGCAAAATTCTGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAACCGTCTCTACTAAAAGTACAAAAATTAGCCAGGCGTGGTGGTGTGCACCTATAATCCCAGCTACGTGGGAGGCTGAGGCAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGGCAAGATCACGCCATTGTACTCCAGCCTGGGCAACAGAGCAACACTCAATCTCACACACAAAGAAAAGTTTCATAAAGAGTCACACATAGCACACGTGGTGCCGCTCCAAACACCACCCAGTGTGCAGCATACTTACCCACGCCCTGTGTTGTCAGGCCGGCCACCATCAGCCAGTGCCACAGTGATGGTCCGAGCGTGGTCAGCCAGCACCCGGTAGGCCATGTCAATCCCATCGGCATCCTCAGCACCAACTTTCCCAGTGTATGGTCGGGCACCTGTGCCCTATAGATAAGAATCAGGAGGCAGCCCTTTAGGAAGCAGACTTTCTGGCGCTACCTTGCCCAAGGAGGTTCCTGGAGGATTGAGGAGCATTAGCAGAAAGGATGCCGGTCTTGCCAGATCCTATAACCCCAAGAACGTGACATTGGGGAAGTAGAGAGACTCCAGCCAGCCCCTACACTCAAAAATTATACTGTCTCAGGTCTAGAGCCTCACATTATTATTTTTTTTTTGTAGTCAGCTATTTAATTAGGTTCTTAAGACATTTAGAACACCAATTTGTGGAGCCTCACATTATTAACAATGAAGTAGGCAGATGGAAATGGGTACCCTTGGCTGGCAAAGCATATGGTCATTTTTTCTTTGACAGCACTGTTAAGAGTACAGCCTGGAAAACTCCACAGAAGTTTACAATGTTTGCAATAGCACCAGTACCTTCTGAATGGCTTCAAAGTAAGGGACAAAAAGGTCAGTGTCATAGTTGGACATCTTATTCTGCAGCACAGATACCAGTCGTTCCAGGCCCATCCCTGTGTCAATGCTTTTCTTGGGAAGAGGTTTCAGAATGCCATCAGCTTCCCTGTATGATCCAGAAGAAGAGGAGGTTGAAGCAGAGACTCAAGCTGCCACCTCTCCAGTCCCTGCTGGTTAA
Task1_train_22871
The gene AARS1 (alanyl-tRNA synthetase 1) on Chromosome 16 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Developmental and epileptic encephalopathy, 29
TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACAAACATAAACAACAGAATTATTGAACATATTAAGAAGCAACGAATGGATCTAAAGATATGGGCCAGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCAGTCTCTACTAAAAAATATATATATATAAAAAAACAATTGGCCGGGCATGGTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCAACAACAACAACAACAAAAATATATATATATTAGCTGGGTGTGGTGGCAGGCATCTGCAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCATGAACCCAGGAAGCAGAGTTTGCAGTGAACTGAGATCACGCCACTGCACTCCAGTCTGGGAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCATATGAATGCGGCCGGGCACGGTGGATTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAAATACAAAAGTTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCCAGGAGACAGAGGTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTAGCTGACAGAGCAAGCTCTGTCTCAAAAAAATAAATAAATAAATAAATAAAGATATTAATGCATCTAAAGATAATTACTCTGTCGCCCAGGCTGGAGTGCAGTGGAGTGATCTCAGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTAGCCTCACTCCTCCCCATGTGCATCTCAAAAGGAACCCTGAGATGCAAAATGACCACATATTCCAGGTCATAAAACCCCACTCTGGCACTGAGTGTCATTTCACTCCTCCATACTCTCAAGAAGTGATGTGCATTCTTACCCCAAATTTTGCCAGATCTGTTTGCATTCCAGATCTGCTTCTAAGCCAGCTGCTTCATCCCCGCCAAAGTAAGTAACATAAAGTCTTTCAATGGGAATGCCAAACTCTTGGGTGAGGAGTTCCAGAGCCATCTTACATGCCAATTCCTACAAAAAGAACAGAGAGAAAGATATGGAACATTGCCAAACCAAAATCTATTTAGTATGAGACCAGATGCTAGGAACACAGATACAAAATCACAACATGTTCACTCTAAATTCAAATTCAAGATCAGTTTATGTAAGAAATCCAAATATATACTGAAATCACCAAATTATAGGTACTACTTCCAGGAAGTCTTAGAATTAATAAATGCCATTCATTCCTGAATCACCTAGATGATATTTCATATTTTAAAACATGCAAAATTAGAACCCAGTTCCCAGTGTGGAAAAGACCATTTTCCTCAAAACCCTAGTGGTTCTTCTGCTCTGAACTTACCTTAAAGTAATCTCCAAAAGACCAAGAGCCCAGCATCTCGAAGAAGGTGTGATGATAGACATCCTTGCCCACATCGTCCAGGTCATTATGTTTGCCCCCAGCCCGGATGCACTTCTGGGTATTGGCAGCTCTGCTCAGCTTTGCCATGGGGTGAGATGGGTCAATTGTGTTCAGGAAAATGGGTTTAAACTAAAAGAGAAGGACAGCAGTTCAACTTTTAAAGGGTGCAAGTGATGTCAGGTGGCCACACACTAGCAGGAAGAGACGACCACACACTAACTGTGCAGTTCATGATTAACATGCCTGGAATATAGACACTTGTCAGAACAGGTGGCCTGGTGGAGCCAAAGCAGAGGGTAGCCTCTCATGGAGCAGTTTCTCCTTGAACCTAGCTCCCTAACAGTCCCCACCACCACGAGTGACACCACCTGCAGAGGGGAAAGGCCTGCCAGATCTAACAGCCACAGGTTGATGTGGTAAAACGTGGGCTTCTTCACCAGTCTCTGAAGTTCAGGGCTTATACCATCTTTCTGGAAGAACTTATCCTGAAAATTGGTATGTTCACTTGGCAGTAAATGTGAGGAAGAAGAAAAAAAAACTGACACATATTAAGGGAATAATATCAGCACACTGATGAATGATTGGATGTATCAGTCGTCTAGCTGGGACGGCCTTGCTCTGAGGATGTATCAGGTCATGCTTTGATGTATCATTGTTATTTGTTAACTTTGTTTTATTTTTCCCACTAGATCTGTTCAATTCACTGCTATCCAATTTGGTAGCCACTAGACACTTTTTTTTTTTTTTTTTGAGATGGGTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGGTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACGTACAGGTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACACCTAACCCCAAGTGATTTGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAATGACTGCGCCAGGTCTTACCATTAGACACTTGTGACCATGTAAAACTGAATTAAAATTAGGCTGGGCAAGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGAAGGGAGGATTCCTTCGAGCCCAGAGTTCAAGACCAGCCTGGGAAACATAAGGAGACCCCTTCTCTATTTTTATAAAAATAAAAAACTAAAATTAAATAATTAGTAATTAATATTTTTAAAAATTAGAAATTCTCAGCTGGGCGCAGTGGCTCATGCCTGTAATCCCCAGCACTTCAGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCCACTAAAAATGCAAAATTAGCCAGCCATGGTGGTGCACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTCTACTCCAGCCTGGGCTACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAGCAAGAGAGAAAGAAAAAAATTAGAAATTCTGTTCCTCAGTCACACTAGCTCAATAATCACACGACTGACGGCTGCCATGTTGAGGAGAACATTTCTGTCACTGCAGAAAATTCTACTGGACAGTCCCGTATTAGATCACAAACTCCTTAAAAGCAAACACTCTCTCACTCATCTCTGTATCTTCGGCACCTAGCTGGGTGCCTAATATCATTTCAAATTGGGGGAAAAAAAAAAGGCAAGGTATTTGCTGATCAAGAGGCAATATGGCACAAAGGTTAAGGAAGTGACTATCTGGGTTCAAGTCCACACTGGCACTTACCGACTATGTGAGCATGGACAACTGACTTGAGATCTCAGTGCCTCAGTAGGGATGGCAACAGAGTTCGGCGTAAATGAGTTATTGTACGCGAAGGACACAGAGCAGCGCCTGGCACACAGTAAGTGCTGCATGCAGGCTGACAGCTACTGTC
TGGCTTTCAACAACAGAATGATTGGCTGGGCACAGTGGCTCACATCTGTAATCCTAGCACTTTGGGAGGCCAAAGCGGGTGGATCACCTGAAGTCAGGAGTTTGAGACTAGCCTGGCTAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGCGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCGCCTTAACCCGGGAGGCAGAGGTTACAGTGAGCCAAGATCGCACCAGTGCACTCCAGCCTAGGTGACAGACTGAGACTCTGTCTCAAAAACAAACAAACAAACATAAACAACAGAATTATTGAACATATTAAGAAGCAACGAATGGATCTAAAGATATGGGCCAGGCGTGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCACGGCGGGCAGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTGAAACCCAGTCTCTACTAAAAAATATATATATATAAAAAAACAATTGGCCGGGCATGGTTCCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCAACAACAACAACAACAAAAATATATATATATTAGCTGGGTGTGGTGGCAGGCATCTGCAGTCCCAGCTACTCAGGAGGCTGAGGAAGGAGAATGGCATGAACCCAGGAAGCAGAGTTTGCAGTGAACTGAGATCACGCCACTGCACTCCAGTCTGGGAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAACCATATGAATGCGGCCGGGCACGGTGGATTACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAAAAATACAAAAGTTAGCTGGGCATGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTAAGCCCAGGAGACAGAGGTTGCAGTGAGCCGAGGTCGTGCCACTGCACTCCAGCCTAGCTGACAGAGCAAGCTCTGTCTCAAAAAAATAAATAAATAAATAAATAAAGATATTAATGCATCTAAAGATAATTACTCTGTCGCCCAGGCTGGAGTGCAGTGGAGTGATCTCAGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTAGCCTCACTCCTCCCCATGTGCATCTCAAAAGGAACCCTGAGATGCAAAATGACCACATATTCCAGGTCATAAAACCCCACTCTGGCACTGAGTGTCATTTCACTCCTCCATACTCTCAAGAAGTGATGTGCATTCTTACCCCAAATTTTGCCAGATCTGTTTGCATTCCAGATCTGCTTCTAAGCCAGCTGCTTCATCCCCGCCAAAGTAAGTAACATAAAGTCTTTCAATGGGAATGCCAAACTCTTGGGTGAGGAGTTCCAGAGCCATCTTACATGCCAATTCCTACAAAAAGAACAGAGAGAAAGATATGGAACATTGCCAAACCAAAATCTATTTAGTATGAGACCAGATGCTAGGAACACAGATACAAAATCACAACATGTTCACTCTAAATTCAAATTCAAGATCAGTTTATGTAAGAAATCCAAATATATACTGAAATCACCAAATTATAGGTACTACTTCCAGGAAGTCTTAGAATTAATAAATGCCATTCATTCCTGAATCACCTAGATGATATTTCATATTTTAAAACATGCAAAATTAGAACCCAGTTCCCAGTGTGGAAAAGACCATTTTCCTCAAAACCCTAGTGGTTCTTCTGCTCTGAACTTACCTTAAAGTAATCTCCAAAAGACCAAGAGCCCAGCATCCCGAAGAAGGTGTGATGATAGACATCCTTGCCCACATCGTCCAGGTCATTATGTTTGCCCCCAGCCCGGATGCACTTCTGGGTATTGGCAGCTCTGCTCAGCTTTGCCATGGGGTGAGATGGGTCAATTGTGTTCAGGAAAATGGGTTTAAACTAAAAGAGAAGGACAGCAGTTCAACTTTTAAAGGGTGCAAGTGATGTCAGGTGGCCACACACTAGCAGGAAGAGACGACCACACACTAACTGTGCAGTTCATGATTAACATGCCTGGAATATAGACACTTGTCAGAACAGGTGGCCTGGTGGAGCCAAAGCAGAGGGTAGCCTCTCATGGAGCAGTTTCTCCTTGAACCTAGCTCCCTAACAGTCCCCACCACCACGAGTGACACCACCTGCAGAGGGGAAAGGCCTGCCAGATCTAACAGCCACAGGTTGATGTGGTAAAACGTGGGCTTCTTCACCAGTCTCTGAAGTTCAGGGCTTATACCATCTTTCTGGAAGAACTTATCCTGAAAATTGGTATGTTCACTTGGCAGTAAATGTGAGGAAGAAGAAAAAAAAACTGACACATATTAAGGGAATAATATCAGCACACTGATGAATGATTGGATGTATCAGTCGTCTAGCTGGGACGGCCTTGCTCTGAGGATGTATCAGGTCATGCTTTGATGTATCATTGTTATTTGTTAACTTTGTTTTATTTTTCCCACTAGATCTGTTCAATTCACTGCTATCCAATTTGGTAGCCACTAGACACTTTTTTTTTTTTTTTTTGAGATGGGTCACTGTCGCCCAGGCTGGAGTACAGTGGCACAATCTCAGGTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACGTACAGGTACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAGGCTGGTCTCGAACACCTAACCCCAAGTGATTTGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCATGAATGACTGCGCCAGGTCTTACCATTAGACACTTGTGACCATGTAAAACTGAATTAAAATTAGGCTGGGCAAGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCAAGAAGGGAGGATTCCTTCGAGCCCAGAGTTCAAGACCAGCCTGGGAAACATAAGGAGACCCCTTCTCTATTTTTATAAAAATAAAAAACTAAAATTAAATAATTAGTAATTAATATTTTTAAAAATTAGAAATTCTCAGCTGGGCGCAGTGGCTCATGCCTGTAATCCCCAGCACTTCAGGAGGCTGAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCCACTAAAAATGCAAAATTAGCCAGCCATGGTGGTGCACGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCACTCTACTCCAGCCTGGGCTACAGAGTGAGACTCTGTCTCCAAAAAAAAAAAAAAGCAAGAGAGAAAGAAAAAAATTAGAAATTCTGTTCCTCAGTCACACTAGCTCAATAATCACACGACTGACGGCTGCCATGTTGAGGAGAACATTTCTGTCACTGCAGAAAATTCTACTGGACAGTCCCGTATTAGATCACAAACTCCTTAAAAGCAAACACTCTCTCACTCATCTCTGTATCTTCGGCACCTAGCTGGGTGCCTAATATCATTTCAAATTGGGGGAAAAAAAAAAGGCAAGGTATTTGCTGATCAAGAGGCAATATGGCACAAAGGTTAAGGAAGTGACTATCTGGGTTCAAGTCCACACTGGCACTTACCGACTATGTGAGCATGGACAACTGACTTGAGATCTCAGTGCCTCAGTAGGGATGGCAACAGAGTTCGGCGTAAATGAGTTATTGTACGCGAAGGACACAGAGCAGCGCCTGGCACACAGTAAGTGCTGCATGCAGGCTGACAGCTACTGTC
Task1_train_22872
A variant on Chromosome 16 in gene FCSK (fucose kinase) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; not provided
TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGCAGCTACAAGGAGGAAAATGATACATACCTTTCATTACTGAAGATGGAAAGATGTGTAAGTTAGATAAGAGAAAAACAGATCCTGATGACCTTCCTTCCAACATAAACCACCTGTCAGAAGACGGTGCAGGGAGACTCAGGCCAAAGGGAAGGTATCTGTCAGCCTCTCCTCTGACTAAAACTCCCCTAGGAGGGGCAGAGGTCAGTGTAAAATATGTATTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCAGCCTCCCTAGAAGCTGGGATTACAGGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACTAGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCTGCCCGCCTTAGCCTCCCAAAGTGCTGTGATTACAGGCGTGTGCCACCGTGCCCGGCCATAGTGTAAAATCTTTATTCTTCAGTGTGGTTTATCCCAATTCCAATTATACATTAGGTCTAAAACAAAACTCAGGCCTTGGGAATTCCAAGCTTTGCCCTAGAGTGAAGCCCATTCCCTTGCTGGGATTGTTCTGGGGACAGAAGCTGCATAGCTCACTGTCCTGTGGAGTTGAGGGAAGCTATCTTTCCACACTGGTCCCAGCAAGGGGTGCAGGGCCGGGAGCCTAGGCTGGGAGAGTGAAGCTGGGCCAGATAGACTCCAACAGTGACAGTCCCTGGGCTCACAGGAGGTGGCTGGCAGGACCAAGTAGGTGGCCTAATGCCTGGCATCAAGGTGGGGCGCTCCCGGGCTCAGCTGCCACTGAAGGTGGAGGTAGAAGAGGTCACGGTGCCTGAGGGCTTTGTCCAGAAGCTCAATGACCACCTGCTCTTGGTGTACACTGGCAAGACCCGCCTGGCTCGGAACCTGCTGCAGGTGAGCTCTGGCCCCAGCATGAGGGAGGCAGGCAGGGGGCCTGCCAGCTGGGCCTGGGTCCTCACCACCCCTTCTCCTGCCCCGTCCGCAGGATGTGCTGAGGAGCTGGTATGCCCGACTTCCTGCTGTGGTGCAGAATGCCCACAGCCTGGTACGGCAAACTGAGGAGTGTGCTGAAGGCTTCCGCCAAGGTGAGGGGCTTCCTCTGGGGGGGTCAGGGCACTGGGAGCGAGTATTCTGTCACTTGTGGGTTTGAGGCCAGGGTCATCTGCAGGCTTGGCACAAGCTCCAGATATTCGGCCTCTGGGAACAGAAGCCTACTGTCTGTCCTCTCCAGGGTCTCACATTTAGGGGAGAGCTACATCTGAGGACAAAATTTTCATCATGGGAAAGGCCCTCCAGCCCTAACAGGAAGCAGAGAGGGGAAGGGACTCAACCCATGGCTGAGTTCCAAGGAAGTCTGAGCTGGGCAGGGTCCCCAGTGTGTGGCTTCACAGCTCCCTAGATGCCGACTATGCTGGGTGTGGTGTTGGTTGCTTCCTGCACATTGGTCCTCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACAT
TTAATTTTTTTTTATTTTTGAGATGGAGTCTAGCTCTGTCACCCAGATTGGAGTGCAGTGGTGCGATCTCAGCCCACTGCAACCTCTACCTCCCGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTGGCCAGGCTCGTCTTGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCATGCCCGGACTAGTTTTGTTATTTTTATGCAGCTACAAGGAGGAAAATGATACATACCTTTCATTACTGAAGATGGAAAGATGTGTAAGTTAGATAAGAGAAAAACAGATCCTGATGACCTTCCTTCCAACATAAACCACCTGTCAGAAGACGGTGCAGGGAGACTCAGGCCAAAGGGAAGGTATCTGTCAGCCTCTCCTCTGACTAAAACTCCCCTAGGAGGGGCAGAGGTCAGTGTAAAATATGTATTTTTTGAGACAGAGTCTCACATTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTTTGCCTCAGCCTCCCTAGAAGCTGGGATTACAGGGCATGCACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACTAGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAAATGATCTGCCCGCCTTAGCCTCCCAAAGTGCTGTGATTACAGGCGTGTGCCACCGTGCCCGGCCATAGTGTAAAATCTTTATTCTTCAGTGTGGTTTATCCCAATTCCAATTATACATTAGGTCTAAAACAAAACTCAGGCCTTGGGAATTCCAAGCTTTGCCCTAGAGTGAAGCCCATTCCCTTGCTGGGATTGTTCTGGGGACAGAAGCTGCATAGCTCACTGTCCTGTGGAGTTGAGGGAAGCTATCTTTCCACACTGGTCCCAGCAAGGGGTGCAGGGCCGGGAGCCTAGGCTGGGAGAGTGAAGCTGGGCCAGATAGACTCCAACAGTGACAGTCCCTGGGCTCACAGGAGGTGGCTGGCAGGACCAAGTAGGTGGCCTAATGCCTGGCATCAAGGTGGGGCGCTCCCGGGCTCAGCTGCCACTGAAGGTGGAGGTAGAAGAGGTCACGGTGCCTGAGGGCTTTGTCCAGAAGCTCAATGACCACCTGCTCTTGGTGTACACTGGCAAGACCCGCCTGGCTCGGAACCTGCTGCAGGTGAGCTCTGGCCCCAGCATGAGGGAGGCAGGCAGGGGGCCTGCCAGCTGGGCCTGGGTCCTCACCACCCCTTCTCCTGCCCCGTCCGCAGGATGTGCTGAGGAGCTGGTATGCCCGACTTCCTGCTGTGGTGCAGAATGCCCACAGCCTGGTACGGCAAACTGAGGAGTGTGCTGAAGGCTTCCGCCAAGGTGAGGGGCTTCCTCTGGGGGGGTCAGGGCACTGGGAGCGAGTATTCTGTCACTTGTGGGTTTGAGGCCAGGGTCATCTGCAGGCTTGGCACAAGCTCCAGATATTCGGCCTCTGGGAACAGAAGCCTACTGTCTGTCCTCTCCAGGGTCTCACATTTAGGGGAGAGCTACATCTGAGGACAAAATTTTCATCATGGGAAAGGCCCTCCAGCCCTAACAGGAAGCAGAGAGGGGAAGGGACTCAACCCATGGCTGAGTTCCAAGGAAGTCTGAGCTGGGCAGGGTCCCCAGTGTGTGGCTTCACAGCTCCCTAGATGCCGACTATGCTGGGTGTGGTGTTGGTTGCTTCCTGCACATTGGTCCTCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGCAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACAT
Task1_train_22873
This variant affects the gene COG4 (component of oligomeric golgi complex 4) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; COG4-congenital disorder of glycosylation
TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCAGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACATGGTTTAGAGGGAAGTGGCGGGGATCCATCTTTGCCTCTTTCAGTCACCCCTCCCTGGCTGGGCCAAGGGTGCCCCACCTACCCGCTCCAGATTGAGGATGGTGGCCATCTGGGAGAGCCGGGCAAACTTGTCTCGGATGGTCCAGGTGGTCACCGTGGTAAGGTAGGCAATGAGCGACCTCAGCTCCTTGTCAAACTGCAGACCACCCAGCTGCAGGAGAACCCAAGCCCAGTCACTACTTAGGCCTGGCCAAGCAGAACTGGCCTCCAGTTGCCCCCAGAGCTGGGTGGCAAGGCCCGCCAGGCCTCAGGTGGTGCCCTGTGGTTTGTTTGCTCTACGGCTTCAGAAGCCAGAGCAGGACTGGACCCAGACATGCAGGGCCTGTGGGCAGCAGACAGAGGGGATGCAAGTCCTGGGGGTGGTGGCATGACATGTCTTCCTCAGAGGAGAAACGAGAGCCGCAGACCCATGACCCCTTTACCTTACCCGGTTAAAGGTGGATTTCAGCACCACTTTCTCCAACTCGACGGCAACAAGGCTAGTCATGAGGCCGGTTAGGCTGTCGTAGATGACCGGGGACAGGCTGGCCTGCACACAGAGGGTTGACATCAGCCGAGCCCCACCTAACTCCTCTGCCTCTATGCTGGAGTCTTAGGTGGTGAGGATAGTAGCGTGAGGCCACGGGGGAGTTTCTACAGGTGAGGGTTGGAAGGGCTTTCAGGGTCCCCAGAAGGAATGTGATGAGACCCTGCAGGCTGCTGGTTTGGGCTGACGTGGGTAATTCCCTAAGTGGATCCCTAGGGCCCCTGCTCACCTTGAACTCTGCCATTTGCTGCTCCAGGTTAAGGATGAACTGTTGTACCCAAGGGTCGTTGGCCTCATAGTCATTGAATTCTTCCTGTTGTCAGGAAGCAGGGCTGGTCACCATGGGCCTCATAAGAAGTACCATTCATTGCCACCCACCTCTATCCCTCTAAGAAAATAATGTAAAACATTCTTCCTTCCCTGTGCCTTCTGACTCATCTAGTTTAAAACCAGCTCAGACACCCAGGCTGGCAGAAACTGACCAGCAAACAGCCCAGGGCTGTAGCAGTGGCCCACATAACATGGTAAAGTTCCTGGCATTTTATTCCTTCTTGGATCTCTTGTTCTACAGGAATGAAATCACTACGCCAGGAGGAAAAAAACGCTTCTAAGTCTATCATAGGCGGGGCAAAAAGAGCTCCAATAAGGGAATAAGTTAGGTCAAGGCAAACTCCATGTCTTTCTGAGCCCTTCTGACTAGGGACAAACTGTTTCCTGGGAGGAACCTAGTCTTCATGGGTCAGGGTGGGGGAAGTGGGCCTGGGAAGCATGGAAGGTCTAGTCTGTTCAGATGGCTCTGCTCCCTCTAGCTGGGGCTAGGGATGAGGGGTCATCGGGGCTTGATGGCTGCCTGTGGCCAGGCTAACCTCCTCGATGTTGTGGGAGACGGAGAAAAAGCTGTTGATCCAAGGCTGCACCTGTGGCTTGATGGCTGTGCTGTTGAGCTCCGTCAGCCCTTCCTGCACAAGGACAAGGTGGAGACATGTGACACAGAAGGCACGACTCATCCCTTCCCTCTCTCTTCTCCCCATCCCTTCCCTCTATCCTCTCCCCATCCCTTTCCTCTCCTCTCCCCATCCCTTCCTTCTCTCCTCTCCCCATTTCTTCCTTCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCTACCCCTTCCCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCCACTCCTTCCCTCTCTTCTCCCCACCCCATCCCTCTTTTCTCCCTACCCCATCCCTCTC
TCAGGCAGTCCTGGGAAGTGGGTTACTCCTGGCTCCAGCCGGCACTGGAATCCGGCTTCTTTACCATGACACTGGCTCAGCAGCACGTCTTGGCACTTCATGCAATCTCCAGATGGGTGCTGAGTATCTTGGCCCAGGCACGTCACTCCCCTCTGCCCCACCTCAGGAAGCCTGCCTCTGCTGGGCCAGTGCCTGACCTCGTACTGGGAGCAGAAGAAGCTCATGGCTCCAGGCTGTGAGCCCCTGACTGTGCGGCGTATGATGGATGTCCTGGCCCCCCACGTGCATGGCCAGAGCCTGGCTGGGGCAGGCGGTGGAGGCTTTCTCTATCTGTTGACCAAGGAGCCACAGCAAAAGGAGGCCTTGGAGGCGGTGCTGGCCAAGACCGAGGTACTGATGGGGCTGGGGTTGGTAAAGAGACCTCTGGGGGCAAGAGACCTCACTGTGGCCCACCAGTTAACCAGGGGCTATATCTGTAAGTCCCCCTGGTCCTGCAGGCCCAGTCCAGCCTCCAGAAGGCCTGAGATTTGTCCAGAGCCTTCTAAATACTTCCTGTCTTGTCCAGGGCCTTGGGAATTACAGCATCCACCTGGTTGAAGTGGACACTCAGGGCCTGAGCCTGAAGCTGCTGGGGACCGAGGCCTCAACCTGTTGCCCTTTCCCATGAAGCTGGCTTCTCTCTGCAACAGGAGAAAACCTGGAGCTACAGTGTCCCCCACCTTCCTTGCCCCATGGGAACCTCCACCTCCTACTCCCCACCCACCTCTGCGAATCTGCTCCCAAAGGAAGCTGACCAGAGCAAGATCTGGGCAAGCAGAGAGTGCCTGGGACAGGACTGTGACCTGGTGGACAGGGGCCTAGATGTAGCCTCTGTTCCTCCTGGACATAGGAAGGTCCCAAGCTTAGTATCCCACGTGGCCTTTACAAATCCTATGGCTGGCCTTCTCATTCCACAAGGGCCCTGGAAAGGGTTGACAGCCAGCCTTGGCATATGGCTGGGAGTCCCTTAGCAAGGCCAACCCTGAAGAGGCCCTTTGAGGCATTCCCTATGGCTTAGAGTTGTAGACTTACACTCAACCCTCATGTGAGCGTGGGAGTGAGGGTGGCGGTCCCTTGCCAAGTTGGTAGCAGTGACCCAGTGATTCACTGCCATCCCAGGCCTTAACTAGCAAAACTACGGAGCGTGCCAAGTGACCTGGTGCCTGTGGGAAGTGGGTTCTCAGGACTGGCATTCTTGGAATAAATTCACTCTGTCCTTGCAGGTGGTCCTCGTAAAGTCACTTTTGCTCCTGCTGGGAGCAGTTCCCACTTCTCTACACCATGGGGAACTGGCCCTGGGGTGATCCAGCTTGTGGTGCTGGGGGCCCAAGAGGGGCACGAGGGTCTGGGACTGGATGGGGGCTCCTGCCATCATGTGGGCCCCGGACACAGCTGTGTGCTGCACTGTGTGTGGGAGCAGGCTGAGGTCTTGGGTTTTACCTTCCTATTTCAGTGCAACTGATAGACCTGCCCTGCCCCATAGCATCTGGCCCTCCCTGGTAACAGCACACTGGCATCTCTCCAAGGAGTAGCTTTATTCAGGGATCATAAACATCACAGCCTCTCCTCAAAGTCAAGCCTAACTGCTAGGTCCCCAGATGTACCCAAGTTGTCTAGGACTGGCAGGGGTAGCTTGTTTGCTGTAGTGTTTGAGGGCAAGAGACTGACCATCCATGCAGAAAGCTGGCCTGGGCTGCTCGCTGCCTGCCGTGGCTTTCCCACCTCATTAGGAGCCCGCTTCTCTCGGTGGGGAGATGCTGCCCCCAGAGCATCACCTGGCCAGGTCTGAGGGCAGAGCATGGAGTGGGTCCAGACTTTGTTTCTCTGCTGCCAGCCGTAGAAAGGTCTGGGCTGTCAGATCTCCCCCAAGCCAGACAGCCTCGCTCAGCTCCTTGGCTGGGGCCCCTTAGGGAACAGGCCTGCAAGTGTGATGAGCCAGGTGTGCTCATCCAGGCAGCTACAGGCGCAGCCTCTTGATATCTTCACTGCGGAAGTCTATCCGCAGGGCCCGCACCTGGCGCACTTCAGCAGGGGTGAGGCGCCACGTCAATGGGCCGGAATTGGGTCCCCAGTAATCGAGGATCTCGGTCACCTGTGGGGAAGGACATAGAGACCAGTCAGCAAGGTGGGGTTATTCTGAAAGAGGGCTCTGGCCTCTACCAGGGGCAGAGCAGGGGCACCCGGGAAGGGGAAGGTGTCCTATAGAGCTGGCTGCTGGCAGACATGGTTTAGAGGGAAGTGGCGGGGATCCATCTTTGCCTCTTTCAGTCACCCCTCCCTGGCTGGGCCAAGGGTGCCCCACCTACCCGCTCCAGATTGAGGATGGTGGCCATCTGGGAGAGCCGGGCAAACTTGTCTCGGATGGTCCAGGTGGTCACCGTGGTAAGGTAGGCAATGAGCGACCTCAGCTCCTTGTCAAACTGCAGACCACCCAGCTGCAGGAGAACCCAAGCCCAGTCACTACTTAGGCCTGGCCAAGCAGAACTGGCCTCCAGTTGCCCCCAGAGCTGGGTGGCAAGGCCCGCCAGGCCTCAGGTGGTGCCCTGTGGTTTGTTTGCTCTACGGCTTCAGAAGCCAGAGCAGGACTGGACCCAGACATGCAGGGCCTGTGGGCAGCAGACAGAGGGGATGCAAGTCCTGGGGGTGGTGGCATGACATGTCTTCCTCAGAGGAGAAACGAGAGCCGCAGACCCATGACCCCTTTACCTTACCCGGTTAAAGGTGGATTTCAGCACCACTTTCTCCAACTCGACGGCAACAAGGCTAGTCATGAGGCCGGTTAGGCTGTCGTAGATGACCGGGGACAGGCTGGCCTGCACACAGAGGGTTGACATCAGCCGAGCCCCACCTAACTCCTCTGCCTCTATGCTGGAGTCTTAGGTGGTGAGGATAGTAGCGTGAGGCCACGGGGGAGTTTCTACAGGTGAGGGTTGGAAGGGCTTTCAGGGTCCCCAGAAGGAATGTGATGAGACCCTGCAGGCTGCTGGTTTGGGCTGACGTGGGTAATTCCCTAAGTGGATCCCTAGGGCCCCTGCTCACCTTGAACTCTGCCATTTGCTGCTCCAGGTTAAGGATGAACTGTTGTACCCAAGGGTCGTTGGCCTCATAGTCATTGAATTCTTCCTGTTGTCAGGAAGCAGGGCTGGTCACCATGGGCCTCATAAGAAGTACCATTCATTGCCACCCACCTCTATCCCTCTAAGAAAATAATGTAAAACATTCTTCCTTCCCTGTGCCTTCTGACTCATCTAGTTTAAAACCAGCTCAGACACCCAGGCTGGCAGAAACTGACCAGCAAACAGCCCAGGGCTGTAGCAGTGGCCCACATAACATGGTAAAGTTCCTGGCATTTTATTCCTTCTTGGATCTCTTGTTCTACAGGAATGAAATCACTACGCCAGGAGGAAAAAAACGCTTCTAAGTCTATCATAGGCGGGGCAAAAAGAGCTCCAATAAGGGAATAAGTTAGGTCAAGGCAAACTCCATGTCTTTCTGAGCCCTTCTGACTAGGGACAAACTGTTTCCTGGGAGGAACCTAGTCTTCATGGGTCAGGGTGGGGGAAGTGGGCCTGGGAAGCATGGAAGGTCTAGTCTGTTCAGATGGCTCTGCTCCCTCTAGCTGGGGCTAGGGATGAGGGGTCATCGGGGCTTGATGGCTGCCTGTGGCCAGGCTAACCTCCTCGATGTTGTGGGAGACGGAGAAAAAGCTGTTGATCCAAGGCTGCACCTGTGGCTTGATGGCTGTGCTGTTGAGCTCCGTCAGCCCTTCCTGCACAAGGACAAGGTGGAGACATGTGACACAGAAGGCACGACTCATCCCTTCCCTCTCTCTTCTCCCCATCCCTTCCCTCTATCCTCTCCCCATCCCTTTCCTCTCCTCTCCCCATCCCTTCCTTCTCTCCTCTCCCCATTTCTTCCTTCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCTACCCCTTCCCTCTCCTCTCCCCACCCCTTCCCTCTCCTCTCCCCACTCCTTCCCTCTCTTCTCCCCACCCCATCCCTCTTTTCTCCCTACCCCATCCCTCTC
Task1_train_22874
With a mutation on Chromosome 16 in gene COG4 (component of oligomeric golgi complex 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCGGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
Task1_train_22875
Here is a genetic alteration in COG4 (component of oligomeric golgi complex 4) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Microcephalic osteodysplastic dysplasia, Saul-Wilson type
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
Task1_train_22876
A variant was discovered in gene COG4 (component of oligomeric golgi complex 4), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Inborn genetic diseases
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
Task1_train_22877
This variant lies on Chromosome 16 and affects the gene COG4 (component of oligomeric golgi complex 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; COG4-congenital disorder of glycosylation
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCCGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
AGCGTGGATTCACTGGGTTTATTCCCTGCCCACAGTGCATGATGTCAGTAAATTTGGAGAATTCATCTAGACAGCCAAATGAATCAAGGTGACATAAAAAATAGGCCCTGCAATGGGAGTGATGACATTTTAAATACTTGGTGTCAGGAAAACCAGAAACCTGTCACCAAGCATTTAGCATCGCCTCTCTTTTTGGTCTTATCTTCTGGGGCCTCAAACAATGAAACTGTGTTAATGGGAGGTCCTCACAGAGCGAATATGCACTGGCCGGTTTTGGAGACATGTAGTCAAGTGGTGGAAAACGGAACTGGAAAGGTGGTATGGGTTAGAGTTAGGAGGCTTAAACAAAGACATCTAGCTTTGATGTGGTAGGCAGCAAGCAGCCAATGATTATTTCTGAGCACAGAAATGAAAGTAAGTTCTGTAAAAAAAATCACAAACAAAATAAAAATTTAAGTTGGTTCATGATGTGATGCTGGTTGCTGGGCATTTTGGCAAAGTTCTCCAAAGGTAACAACTTTCACAGGCAACAGTTTTTTGGATCTGATCTTTTTTTGGCAGCAACCATGATATCCTAGATTGACAGAAACCATACACAGGGCAAATATTTTCTATGACAGGAAGAGAGTGGGGCTGCCTAAACAGCTTTCACATTGGATCTGTCTCATAACTAGTTACTATGGGTTCCTCTGCACAGGGCTTGGTAGATATTAGCAAGTTTAGGCTTCTCTCTCTGCAAGTAACAGCTCTGAACTCTTTTGGGGGTCACAGATCCTTTTAAGAATATGATAACCAGGCACGGTAGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCAAGACGGGTGGATCACTTGAGGTCAGAAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTTTACTAAAAAAAAAAAAAAAAAAATTAGCCAGGTATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTAAAGCAGGAGAATCGCTTGAACCTGTGAGGCGGAGGTTGCAGTGAGCCAAGGTCATGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAGAATCTGATAAAAGCTAAGGAAGGACCCTGTGACCCAAAAATGCATGTGAACATTTTTGCGTCCAACCCCACTTGTGGGCTACAGATGCTACTAGATGTTTCTTTCAGGCTCTGAGCCTCAGGAGTCAAGACTCAGGGTGCGGCCAATGTGGGGGATGGAGCAGAATGGACCTCGGACTGTGCTACTCCCATGCGTGCTAAGACAGCGTGTGCCAGAGAGGCCTGATCTTGAGCTTAGGATTCATCTGTGGTCTTTCTGGCTCATCACAAACTGGTTGTTGCTTTGTACAAATCCTTTCATCCTTCTGTGCTCCTCCTTTCCAAGCTGTCACACAATGGAAGGCTTGCTGCTTTATCACATCTGTCATTCTGGGTAGCAAAGGGCTTTAATAAAGCCTCCTTTCCAGAGGAAGTTGAAAGCCTAAGACATGTACTAGCAGAGCAGTGATGGCAGGCCCGAAGGACTGGCGCCTGCCCATGCTGCGGGCCTCTCCTCAGAGAAGCAGTCTGGTGGTCTGGCACAGATGGTAGAGCTGGTTCTGTGGCAGATGCAAGCCAAGCTTGGCACTCAGTGGGCTCCTGAGCAGCTGGCCAGTGCTCTGGGGAATGAATTCTAGGTGACAGCTGGACAGCCCAGCCTCTATCGTGGCTCAGGTGACTCAGAATATGTCCCTGAGTAAGAAATAGTTTCAGAACCTTCTGGGAGGAAATTCCCTTAAAGGAGGAATTTTCCTTCTATATAGACACTGGAGGAAAAGTCTCTAGCTAGAGGCCAATTATACTGTGGCTTAGCAGTGATAGCGTAACCTCTCGAGATAAACCAACCCAGCTCGTGAGCTGTGGGGTACCTACCAGGAAGGACATCTTCGCCTCGTCAGTACTCTCGATGCCTTTTGTGTCAAATTTGCCTTGCTGGAGGCTGCTGTGCATGATGTTCACGGCACTTGTCACCCTGCGCTGGATGTCCTGGAAGGTGGTGGCAGGAAAGCCCATCCGCAGCTTATTACACAGAACATCCCTGGGGGGCAGGATTGCATAGAGGAATTGACAGTGCTCAACTTGGCCACCAGGACAGAAGGGCCAGTCTTCACCACTCTGACCCAGCAGCACAAGGTGCTCTTTTAGGGGGAATAACCAGTCCTTAAGACCACTGTAGGAGACCTGAGGAGCCAGGGTATGAAAGTAACCAGCACCCCGTCAAGGACACTGATGTGACAAGAACATACAGGGGAGACTGGCCAATCTCTACTGTTCATGAGGCTTTTAGCCATCACCACTGCACTCCCAACAAAGCTGTGCGGCTTAGTGAACGCAGTACCATGTAGGAGTTGAGAACAGGTTTTGAGTCACTCAGTTCTGGATTCCACCACTGACTCCTAAGTGGTGGATCTTTGACGAGGACGGAATCTCCCTAAAGCACAGTTTCTTCATCTATAAAACAGAGCTAACAGTTCCTACTTCATAGGGTTGTTATTAGGACCTCAAAAGCGCAGGAGATTAGCATAGTGCTGGGCCTGTAGCAATGGTACCTATTGGTGGTATTATTCATCTGAACTGCCTGTTCTCTTTCCTACGTCTAAGGGCCCATAGCTCCTTCAGTCTAGTCCAGGGAACAGAAATTTGGCCCATGAGATATATGGCTGACCAACAGCTTCCTGGAGCCAAGGATACTATCTTAGGGATAGGAGCTGATGTCCTGTATAGAACTTAACTAGAATCATGAGGACAAAGGGCAGAAACAAATGGGCCTCAGGAATCAACAGGAAGGGCCTTTCTGCCTAGAAAGGAGAAAGGGAGTCAACTGTACCTGAAGTCAGACTCCAGCTCTGTGGTGGCGAGGTTGATCATGGCACAGAGACAGTCAATGCTGGAGCTGGACAGAGCCCGCCCAATGCACTTCTTAACAATGTAGAAGACATCATCCACCATGCTGGATGTCAGCTGGCCCTTCTCATAGGTGTCCAGAGCCACAGCCTACCCAAAAGGCAAAGCCAACACTGAGGGTCCCAGTTGTGCATGTCATGTTCTAGATGATTCTGGGTACACTGGCCCTAGCTCTGCTCCCTTTTCTGTACCTTGTCCATGTTTCTCCCAACATGGCGTGCATCCTCCTTGTCAAAATAGCTTACTTCCCTATTGATCACTAGGTGAACAAATTAAATATTTCGGGCCTTAGCCCTGCAGAGATCCATTACCTGGGGAGTGTAAGATATCTGCAGGGGCCCTACTTCCCTGAGGCTCCTTACCCACAAACCTTCAGGGAGGTAGGGAACAAGTGGGCTCCCTGAAGAGCTGAGCTGAGCTGTTCTTTTTTAATTCTTGGGAAGGAAGTCCTAGCTGGGTATACAAAGAACACAACGACTCCAAAGATGCTCTCTAAACATACAAAGTGGTACCACTCAATCTGCATGCAAGAGTATTCTCAAAGCAGGACCAATAAATATGACATGCCTCAGCCATTTCCCTCAGCCTGGCTTCTTGGACCGGAAGCCCCATTTCCAAGAGATGCGTCCTATGTCCTACCTTATTGACAGTCTCCCTCATGAAGTACTCCTCCATGGTAACATATAAGCCAATTAGCTCCTGCATGGTACAGCTCAAAAGGCAGTTATTGAGGAGTTTGTCCAGACACTTCTGGTGCTCTAGGGGACAGCCAAGAAAGGAATACTCATTTTTTTTCCCCAAGGGAAACAGAGCAACTTTTTTCATTTTTTCAGGTTCCTTTATAGTCTTTCTTTGAAATATGTACATATTTTACATCGTTACAATCATGATACAGATAGCAATTTTGAATTCTGTTTTAAAAAAGTATATCATAAATATTTTCCATGTTTTCACCTACCTTATTTTTCATGACTATGTGGCATTTCATCAGGTGCATAATCCACATTTTAAAAACTACTTTTTTTATTTTTAACTATTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCGCAACCCCT
Task1_train_22878
A mutation found in VAC14 (VAC14 component of PIKFYVE complex) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Striatonigral degeneration, childhood-onset
GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGG
GGCTGAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCAAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGG
Task1_train_22879
Chromosome 16 houses a mutation in gene VAC14 (VAC14 component of PIKFYVE complex). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Striatonigral degeneration, childhood-onset
GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGCGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGGGCAG
GAAGCCTGCAGGCTCACCCAGCCATCCACCCATATTCCCAGCTCCAGGCCTTCTCCCCCACCCCCACACCAGGCCCAGGAGGAACTACAATGAGCAGAGGGCAGCCACCTTCTCCCAGGGGCAGGAGCTGGGGTTCTCTCCCACCCCAGCAAGATGGTCCAGCATCACCCGCTGGCACCTGCCGGGCTGGGCCTACTCAGTCCCAATCCCAACCCACAGGGTTTCTCCCGGGCCAGCTCCCCCTCCAAGAGCCCCTCTTTGCTGCCAATCTCGCTCTCCCAAATACGTCCCTCCCCTCCCAGTGTCCTGGCAGCCCTGATGTCACAAGCCCTGAGGCTGAGTGGAGGGGTGGGGACAGGAGCATGGCACTTGGGCCCGCCTGTTGGGTGGAAAGGGGGCAGCCGGCCCCTTCCTGCCCCTCAGAGGCTCAACCCCAACCACAGTGAGAGGAAGGATACAACTTCTGGATGAGGTCATAGGCGTGCCGGTAGTTCTGGGTGAGGAAGCAGAGGGACACCGTGGTGACTGGGTTGTGGCACCAGGAGCGGTACAGGCAGCAGAACAGGTTCTGGCTCTCCTGTGGGGGAACAGGCATGAGCCGTGAGGACACGCCTGCTCCTTGCCCCTACCCGGTCCACGTGGGGACCTGAGGGAAGGGCCACAGGTCTAAGTCCCAGGGGCCTTCAGTCGGGGGCAGCCAGAGCCAGCTTAGCACCCCGGCTGGGAACGAGCCGTCACAAAGGAAATGCTGACAGCTCCTTCGCAGACCCTGTCATTACCTCCCAGTCCCAGAGCTGTGTGGTGGCTGCGAGGGCCTGGCTGGGAGTGGCTGTCCTTTGTGCTGGCATGTCTGCCCTTGGCAAAATCACAGTAATTGTCCCCCCTCCCCACCCCAAAGAACTCTGTGGTCCCGGAGCCCCATGGGGCTGGGATGATGATGGGGGAGTGGGCAGGGAAGGGAGGAAGCACACTTAAATGCCATCTCCTCCCCACCTCTGCAGTCCACTTCGAACACTTGGAAACCACCCAGGAACCCAGCCCACACTTGGGGGAGCCCTTGCCCCCGAGGAAAATTCTTAAGGCCTCTGCGAATGTCTGGAAGGAACCACAGGAGGGAGGCAGGGCTGTGGCCTGGATCGTGCAGAGCCACTTGGCCCCAGATGCCCCCAGACATGGGCCTGGATATCCCCGAGGCTCCTGGGGAGGGTGTAAGCAGGGTCTGAGCCGGCAGGGGACCTGGGAAATGAAACCCCTGGAGTCCCTGCCTCCAGGATGACCCCTGTCCCCGCACGGCCTCTGCAGCCACCACCCCAGCCGGGACACGAGAGGCCTGGGACCCGCGTCTCTCCTTGTTCATAGGGGAGTGAGAGTGAGTGAGTGTCCTTTCTGCTCTCTCTGACCAGTCGTTGGTGCATCCCCATCCAGAGCCTGGGACGGATGGGCAACAAACTTGACACCTTGGCTTATGACAGGTGCCTTAGGAGCCAGATGTGCCCAGCTGTGGGAGAGAGGGGCCAGGCCAAGGAGGGCGAGAAGAGCTGTTAACCCCTGATTCGCCAGCAAGGTTATAACCCAGAGGCCTGGCCCTAAGAGGGTGGCACCACCATGCAGGGTGGGCCCACGGCCAGCAGAGCCTCTGTTTTCAAGGGGGCAGTGCCTGGAGTGGGACTGGGGTGTCAACCAATGGAAAAGGCAGGGCTGCTGGGGGGTCAGGGTGGACACGTGGACCCTCCTGCGGGCAGAGACCTCAGTGTGGGTGACGTGACGCACCCATGGTTAGTGCTGCGCAGCCACTCACCCGGGATCCCTATTTCCCAGTGGACCAGGGGAAGTCTCGATTTCAACCCCGTCTTCTCCCTGAGAGCCTCCTGGGGCCAGCCGAGGGGCGGGCTCACACAGGGTGTGCCCCCTGGCATGCAGGAGACGCCTGAGGATGGAGTCCCGGACGCAGCCTACCAGGGTCTTCAGGTCCTTCAGCTGGTTCCTTAGCTGGAAGAGCTCTGTGGAGGTCAGCAGGATGGTGTTGAGGGCGTGGACCATGGTCGAGGAGAACTTGAGGTCCTCCTCCCGCAGCAGGATGTCTGCCATTGAGTGGAAGATGTTCTCCGCATTCAGCAGGAGGCACAGCTGCCTGGAGAGCAGGCAGACTGGGGTCAGGGCGCAGGCCGACCTGGAAGGCTCTGTGTCTCAGCCTGGGAGGCCTCCTCTTGGTTTTGCAGCGTCCTGGGGAAACTGCTCTTTCCTGAGGCCAGTGTGGAGCCATGACTCTGAGGCCTGTGGTTGTGGGAGGGCGGGGAAGGGTGGGGGGAATGCCGCACCTGCCTCTAGGCCTCCCAGCACTGCCTACCTGGGCCTAGCCACGCCAGGGCGCCCCACGCTATATTAATCTCCCGGCACAAGAGAAACAGCTGGGCCTCCAGCTACCCAAAATAGTTCCTGAGATCCCGTCACCTTCCTGAACTCCCACATGTCTGAGCAATGGCCCCCACCCCAGGCCAAGACACGCCTGTCCCCTGCTGGGCTTTCTTCTCTTGCTAGAACTCATCTTCATCCAGCCAATTCTCCACACATCGGTCACCTGTTTACTGCCCCACTCCTCCTCCTGGAAGCCCCCGAGGTCAGGGATTTGCACTGTTCGGGCTGTACCCTGCGGCCTGGAGCACAGATCCGTGTGGGATCAGCGTTATGACCCTGAGTTTTTTCTTCACTGTACGGATGGTGAAACTCTGGTGAAGTGACTTGACTAAGGTCGCAGAGTCACTTACGGCCAGAGTCACTTAGGGCTCGCTGGTCCCTGGGCCATGACCCCTTTCCCATCTCTTGTCTAGTTAAGAGTCGTTCAGGGCTAAGGATCGGACTTTGTGAAGAGGAGCCTCCCTGTTATACAAAAGGCAAAAAGGGAACCCAGAGGATGAAGAAAAGCAGATTCCTCAGGGTCCCTGGGCCGGATGACACGAGCAGTGAGAAGTGGGTGGTGAGGACAGGCTTGGAGGAATCCGCGCTGCTTTTCCACGTGCCCTTGGAGGCCTGGCCTGCAGGGGAAGGGCACCTGGGCAATGCTTCCCAGCTGGAGTCCCAGGGATTCGGGAGCTTCCCCAAAACAGCATGATGCAGGCAGGATGGGGCATGAGCGGGGTGGCTGGTGAGAGGGTGGTGTGCAGCACTGCGCTTCCTGAGTGCTGGGCTGGCGGCAGCGTGGCACCCCTGCCCACACCACCTTCCGTCTGGGGCTAAGCTCCAGTGCCTGACGCCGCATCCCGTCTCCAGGGAAGCATCACCACAGTTCCAACACGGCGTCGGAGGCCCCGAGGTCTTGGGTGCTCAGTGACGTGAGCCACATTTCTTGGTGGGAGGCCTGAAACACCTCCATCTCCTCCTAGGTCGCTGGACTCAGCCTCCGCTCCGCATGACCTGGGCCCAGCTTCCCAAATGCCCCTGAACGCCAGCCATGGCTCTGGGGCCAGGCTGGAGAAGATTCCTCCCCACCCCCAGCCCCAAAGCAACCCCAGAGCATTTGGTAACAAAGAGGCCAGACCACAAAGCGCAAACAGTAGGCAGGCCGTTCCAGCCTGCCCCGGCTGGAGCCTGCAGGCCTGGGCAAGAAACCACGAGAAACAGAAACAAGCGGCACAGGGAGGGGGTGGCGGCCGCACGAGTGAGGGCCGCTTCATCTCCCCGCGCATGCCACCAGGACCCTGCCATGCCGGGGGCTCCCCTGGGGTTAGGTGGGAGGTGAAGGCCTCCGCCTGGTGTCCCCAACTACCAGCGGTGTGATCTCAATGTCTCCGCACAATTTTTCCACCTTAATTAGGGGCAATACCTATCTGTGAAATAGGGGGAAGTTCTCAGAGGGCAGCCTGAGGACGAGGAACAAGCCATGTAAGGCTAGTGTGTGGAACTAGCCATGTAAGGCTAGTCCTCTGGGGAGCTGCTGGCTGCAGAGGGAAAGCCCAGCCAGGCAGCCTCAAGCCAAAGGCCAGGAGGTGGTGGCCCTGCTGCAGAGCCCAGACAGTGCTTCCTGGCCCCTCCCGGTCCCCCAACCCCTCCATGAGCCCTGTCTCCATGGCTGTGGGACAGAAATGTTCCAGAAGGGCAG
Task1_train_22880
The gene VAC14, VAC14-AS1 (VAC14 component of PIKFYVE complex| VAC14 antisense RNA 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Striatonigral degeneration, childhood-onset
GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGACAGCTGCCCGGGCCCCCCACAAGCCTGGCACCAGCCCAGGGAAGACTGAGGAGCCTCACTCCATGGGGACTGGTGAGCAATAGCCCTCTCCCATCCCCCCCACCCAGCCTCATCCACTCTCTGCAGTGTGGGCAGGTCTGTTGATTCACGAGCTGGCTGCCTCATGGAGATACAGCTCTGCCTACAGCTCACAGTGCCTTGGCGCTCAGAAGAGGAAAGTGGGCTGAGGCTCAGCTTGGACCGTCAGCATCTGAGATGCAGCCTGAAGAGCTGGTATGGATGGAGGGATGGGATGCTGCCGTGCAATGGGCACGCGCAGCTGCAAACCCTGCCGCTTGGCTGGGAGGCAGGGGAACCCGGTAAAGGAACACCACGCAATGGGCATGGCTGAGAATGGAGTGTGGAAAGGTGTGTGTGGCTGGGGCAGACTCCTGCCCAGATGACAGGAAGAGCCAGGGGCCCCCTCCACCTCCCAGGCCAGCCTCTGTACTCCAGCTCTCTCAGAGGGCTCACTCCTGCTGCCTGGGATCTGGGTCAGCCTCTCCCTCTGCACCAGCAGCTCTTGGTGGCCCCAAAAAGGCAAAGCTTAAGGGTCCAATTTCAAACTAGAGGTCATAATGGAGTCCAGCTGAAATGAGTAACACAACCAACGCTAACTGAGCGTGCAGCAGGGGCCCGGCCCAGTGCTTAGCATTTTACATGGATCATTTCCCTCTCACATCCCCCTATGGTTACTGCCCTCATTGAACAGAGGAAAACTGAGATGCTGAGATGCAGAGATACTAAGTGTCTTGCCTTTGGGCAGCCTCACTCCAAGCCAAGCTCCCCGCCTGTCCTGTGCTGCCTCCCTTACTGACACTCTGCCCCAGCTGCTCCAGAAGGGACTACAGAAGAGTCCTCACTCCTAAAGTGAGTTTTTTTTTTTGTTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAACCTCCTGAGCAGCTGGGAGTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTGAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGAAAAACAGGTGTGAGCCACTGCACCTGGCCCCAAAGTGAGTATTAAACACAGCTTTACCTCTAGGAAGGATGCACTGTACCAAAATAAGCATATCTCAGTCACTAACAAGGGGAGGCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGTGCAGTGCAGTGTCCCGCTGGTGTGCACGGACCCACTGGTCTGCACGGACCACTTCCCTCCCCGACACAATGAGGGCTCCTCGCAGCACCTGTCACTTCTCTGCCGGCCAGGGTTTCCCTAGAAGGGCAATGACCAAAATGCTACCAACTATGGGCAGGCCCTGGAAAACCAAGGCGGACCCAGAAGAGGCCCCTGGCTTGGAGGGGCCCAGGGCTCACCTTCCGAGGAGTTTTGATGTAGAGGTGGTAGAGCCACTTGAGAACTGCAATCCTGGTCATCATCCCAATGGCCGTGTCACTGAGGTGGCAGTTTAGGACCTGCACGATCCCGTCGAGGTGAAGGGTCACTGGGGCTCTTTCAGTGCTGTGGGTAAGATCGGGAGGGAGAGCAGAGGTGAAGCCCACCATAGCCCTCTCCCATGGAGTCATGGCACCACCCTGGGCCTGCACATCCTGAGTCACACACTGCTAACCACCGTCTAGGGGGATCGGGGGTCAGGGATAACCTGATCCCACACATCCTTGCTGGTCTCCCACCATCCCAGCTCAGCCCAGCCCAGGGGTTTGAAGGGGGCTTCTCTCTCTCCCTTTCCAAAGAAGTTTGGAGCTTGCTGCTGGGCTGGAACCATGATAACCATGTTTTGGGGGATGAGGACCAGTCTGCTGGGCTCCCACTCACTTTTCCTTTTCTTTCTCCAGCACCAGCCTGGCTTGCACAGGAGGAGAAACCCTCTCCCAGTCACTGAGCTGACCTGACCAGGCTCAAGGCATTAAGTTCAGACCCTTTCTTGGAAAAACAAAACCACCAGGTCTGGACTGTATGAGGGAAGGTCCCGATAACAACTGTTGACCTCCGCCAGGCCCTTCACCGGCCATCTGAAGGATGTTTCTCAAGTGAGGTCAGGGATCGAGGCTTGTCATTGTGCCTTGCCACTGCACCAGGGCACTCAGCACATTTGGCCTAGGAGAGACACCCTTGAGAGTTAAGACCAAAATGCGCTCCTTTGAGTTGGGGAAGGGGTAAACACAGCCTCTGCCTATGAGAAACGGATATTGTTCAGGAGGTACTTTTGTTCTGGTGGGCACAGGAAGCCCCCTGGCTTCTGTGGACTGAAGTCCTGCGGGTCCCCAAAGTTCTGCTAAGCAGCCTGCGGGACAGCGGGTGCTGCTGGGAGGCTTGAGTTGGTTTTTTGCCCAAAGCACTGCTCCCTGGCACAGGCTGGGTTTTCAAGGTGGGGGCAGCATGGGTAGAAAAACCTCGGGATATTGGGGAGGGGCTCCCTTCCTACCGAGGCACTACACTGTACTTCCCAAATGGTGCCGACAGGTGCAGGCCAGGGGTTGCATTTTCTAAGGACCTGGGCCAGCAGATCAGTCCCCTGCCGGTATAAAACCGTCTCTTCGTGGCATTTCTAGGCTGCTCAATTATTCATTTGCATCAGGAACTGATGGCTGTGCTTTCCTCACTCGCCTGCAGCCTCTCTGAAGCTCATTTGATGTGAATCCCTAAAGGGCATGATTCTGCGCTCTGTAATTGCTGAGAGGAATTGCTATTTAATATGGTTTGATGATCCCCATGGTGCACATTTCAGGGGCAAGAGTGGGCACATCTATCCTCTGGTGGCCAGGAGCTCCGGGCATGTGATACAGCCACAGAGCCTGGAACTGAGTCTCTGGGCGGGTGGCCACTGTGATATCCCTAGTGGTCACGTGGCTGGAAGTTCCTGGTGTCTTCTGAGGATATCGAAACACTTAAATCTTTGCTAGCCTGAGACAGACGGGGACAGTACTGTGCAGGTAGAGGAGTCTAGGGCGGTAAACACTGGCCCCGTCAATCTCTTAATCAGTTTCTCTCAAGTCCACTGTCCCGCAGAAATACAACGCAAGTCACAGATATAATTTTACATCTTCCAGTTTTCAATTAAAAAGGAGAAACAGGTGAAATGAATTTCAATGCTGTTTTAATTGACCCAATGTATCTAAAATATTAGCATCTCAACATGTAATCAATATAACAGTGAATGTAAACATTCCCAACAAAATCTATTCTCTTTTGTGTCCTAAGCCTTTGGGACCTGGTGTGCATTTCACCGTTACGGTGCACCTCGGTTCAGAGTAGCCAACAGGCACTCAGTAGCCACGTGGCTGCCGCGGAGGCCCACACAACAGTCCACGCCAGGACTTTCTGAGTGTTTCCTTGTCATCTCTGGCAGTTTCCTAGCCACTCCCTTAGCTGACGGCCAGCATTTACTGTTTTATCTCCCATTCCCTCTTTTTCCCGTCCTGCAGAGCTCCTTCCCT
GCTGTGACTGTGCAGTGAGTCACTCCCAACTCGCAGGCAGAACGGGGCCAAGTCCACCTGGGCCTCGCGCTGCAGGGGGTGGTGCACGAAGAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGGGGGGCGGGGGGTAGGCAGGAGAGGCCAAGGGCATACTCACAGACCATCTGTTTTGGATTTTTCTGGTAATACAGAAAACCTCAGAGGACCTAGAGGTTGATACCTGCCTGTCCATTTCTCTCTTCAGCCCAGGTTCGGGAAAGCAAATTCAGGCTGCAGGACAGCTGCCCGGGCCCCCCACAAGCCTGGCACCAGCCCAGGGAAGACTGAGGAGCCTCACTCCATGGGGACTGGTGAGCAATAGCCCTCTCCCATCCCCCCCACCCAGCCTCATCCACTCTCTGCAGTGTGGGCAGGTCTGTTGATTCACGAGCTGGCTGCCTCATGGAGATACAGCTCTGCCTACAGCTCACAGTGCCTTGGCGCTCAGAAGAGGAAAGTGGGCTGAGGCTCAGCTTGGACCGTCAGCATCTGAGATGCAGCCTGAAGAGCTGGTATGGATGGAGGGATGGGATGCTGCCGTGCAATGGGCACGCGCAGCTGCAAACCCTGCCGCTTGGCTGGGAGGCAGGGGAACCCGGTAAAGGAACACCACGCAATGGGCATGGCTGAGAATGGAGTGTGGAAAGGTGTGTGTGGCTGGGGCAGACTCCTGCCCAGATGACAGGAAGAGCCAGGGGCCCCCTCCACCTCCCAGGCCAGCCTCTGTACTCCAGCTCTCTCAGAGGGCTCACTCCTGCTGCCTGGGATCTGGGTCAGCCTCTCCCTCTGCACCAGCAGCTCTTGGTGGCCCCAAAAAGGCAAAGCTTAAGGGTCCAATTTCAAACTAGAGGTCATAATGGAGTCCAGCTGAAATGAGTAACACAACCAACGCTAACTGAGCGTGCAGCAGGGGCCCGGCCCAGTGCTTAGCATTTTACATGGATCATTTCCCTCTCACATCCCCCTATGGTTACTGCCCTCATTGAACAGAGGAAAACTGAGATGCTGAGATGCAGAGATACTAAGTGTCTTGCCTTTGGGCAGCCTCACTCCAAGCCAAGCTCCCCGCCTGTCCTGTGCTGCCTCCCTTACTGACACTCTGCCCCAGCTGCTCCAGAAGGGACTACAGAAGAGTCCTCACTCCTAAAGTGAGTTTTTTTTTTTGTTTTTGTTTTTTTGAGACAGGGTCTCACTCTGTCGCCCAAGCTGGAGTGCAGTGGCACGATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAACCTCCTGAGCAGCTGGGAGTACAGGCGTGCACCACCACGCCCGGCTAATTTTTGTATTTTGAGTAGAGACGGAGTTTCACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCCTCAAGTGATCCACCCACCTTGGCCTCCCAGAGTGCTGGAAAAACAGGTGTGAGCCACTGCACCTGGCCCCAAAGTGAGTATTAAACACAGCTTTACCTCTAGGAAGGATGCACTGTACCAAAATAAGCATATCTCAGTCACTAACAAGGGGAGGCAGGGCAGCCGATGTTCCATAAGTACGGGTGGCGTTGGTGACCTACCTCATCCGATTCATCCGATAACGTCTGCAGTAGGATGGGAAAGAGGCTGTCCGTGTGCCGGAACATCTGGAGGGCAGAGAAGCAGGGGTGCCCGTGAGTGCTCCCTTCGCCCCGGGACTACGTGCAGTGCAGTGTCCCGCTGGTGTGCACGGACCCACTGGTCTGCACGGACCACTTCCCTCCCCGACACAATGAGGGCTCCTCGCAGCACCTGTCACTTCTCTGCCGGCCAGGGTTTCCCTAGAAGGGCAATGACCAAAATGCTACCAACTATGGGCAGGCCCTGGAAAACCAAGGCGGACCCAGAAGAGGCCCCTGGCTTGGAGGGGCCCAGGGCTCACCTTCCGAGGAGTTTTGATGTAGAGGTGGTAGAGCAACTTGAGAACTGCAATCCTGGTCATCATCCCAATGGCCGTGTCACTGAGGTGGCAGTTTAGGACCTGCACGATCCCGTCGAGGTGAAGGGTCACTGGGGCTCTTTCAGTGCTGTGGGTAAGATCGGGAGGGAGAGCAGAGGTGAAGCCCACCATAGCCCTCTCCCATGGAGTCATGGCACCACCCTGGGCCTGCACATCCTGAGTCACACACTGCTAACCACCGTCTAGGGGGATCGGGGGTCAGGGATAACCTGATCCCACACATCCTTGCTGGTCTCCCACCATCCCAGCTCAGCCCAGCCCAGGGGTTTGAAGGGGGCTTCTCTCTCTCCCTTTCCAAAGAAGTTTGGAGCTTGCTGCTGGGCTGGAACCATGATAACCATGTTTTGGGGGATGAGGACCAGTCTGCTGGGCTCCCACTCACTTTTCCTTTTCTTTCTCCAGCACCAGCCTGGCTTGCACAGGAGGAGAAACCCTCTCCCAGTCACTGAGCTGACCTGACCAGGCTCAAGGCATTAAGTTCAGACCCTTTCTTGGAAAAACAAAACCACCAGGTCTGGACTGTATGAGGGAAGGTCCCGATAACAACTGTTGACCTCCGCCAGGCCCTTCACCGGCCATCTGAAGGATGTTTCTCAAGTGAGGTCAGGGATCGAGGCTTGTCATTGTGCCTTGCCACTGCACCAGGGCACTCAGCACATTTGGCCTAGGAGAGACACCCTTGAGAGTTAAGACCAAAATGCGCTCCTTTGAGTTGGGGAAGGGGTAAACACAGCCTCTGCCTATGAGAAACGGATATTGTTCAGGAGGTACTTTTGTTCTGGTGGGCACAGGAAGCCCCCTGGCTTCTGTGGACTGAAGTCCTGCGGGTCCCCAAAGTTCTGCTAAGCAGCCTGCGGGACAGCGGGTGCTGCTGGGAGGCTTGAGTTGGTTTTTTGCCCAAAGCACTGCTCCCTGGCACAGGCTGGGTTTTCAAGGTGGGGGCAGCATGGGTAGAAAAACCTCGGGATATTGGGGAGGGGCTCCCTTCCTACCGAGGCACTACACTGTACTTCCCAAATGGTGCCGACAGGTGCAGGCCAGGGGTTGCATTTTCTAAGGACCTGGGCCAGCAGATCAGTCCCCTGCCGGTATAAAACCGTCTCTTCGTGGCATTTCTAGGCTGCTCAATTATTCATTTGCATCAGGAACTGATGGCTGTGCTTTCCTCACTCGCCTGCAGCCTCTCTGAAGCTCATTTGATGTGAATCCCTAAAGGGCATGATTCTGCGCTCTGTAATTGCTGAGAGGAATTGCTATTTAATATGGTTTGATGATCCCCATGGTGCACATTTCAGGGGCAAGAGTGGGCACATCTATCCTCTGGTGGCCAGGAGCTCCGGGCATGTGATACAGCCACAGAGCCTGGAACTGAGTCTCTGGGCGGGTGGCCACTGTGATATCCCTAGTGGTCACGTGGCTGGAAGTTCCTGGTGTCTTCTGAGGATATCGAAACACTTAAATCTTTGCTAGCCTGAGACAGACGGGGACAGTACTGTGCAGGTAGAGGAGTCTAGGGCGGTAAACACTGGCCCCGTCAATCTCTTAATCAGTTTCTCTCAAGTCCACTGTCCCGCAGAAATACAACGCAAGTCACAGATATAATTTTACATCTTCCAGTTTTCAATTAAAAAGGAGAAACAGGTGAAATGAATTTCAATGCTGTTTTAATTGACCCAATGTATCTAAAATATTAGCATCTCAACATGTAATCAATATAACAGTGAATGTAAACATTCCCAACAAAATCTATTCTCTTTTGTGTCCTAAGCCTTTGGGACCTGGTGTGCATTTCACCGTTACGGTGCACCTCGGTTCAGAGTAGCCAACAGGCACTCAGTAGCCACGTGGCTGCCGCGGAGGCCCACACAACAGTCCACGCCAGGACTTTCTGAGTGTTTCCTTGTCATCTCTGGCAGTTTCCTAGCCACTCCCTTAGCTGACGGCCAGCATTTACTGTTTTATCTCCCATTCCCTCTTTTTCCCGTCCTGCAGAGCTCCTTCCCT
Task1_train_22881
A mutation found in HYDIN, LOC121587554 (HYDIN axonemal central pair apparatus protein| CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Primary ciliary dyskinesia 5
CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAGTGCCCAAAGGACCCTGGAGACGACGAAGGCAAGAGAATTCTATTTGGTCAGCATCATGGAGATGGTCTCAGTAGGTGCTGGGTGAATCAGATTTTAGGCACAATCTTTGATCTATAAACACACATGCATGCACACAATTCAGTAATGATACATGCAGGAGCTATGTAATGGAGATTCAATCCTCATGGAAATTTGGTAGGAGATATGGTCTCCGAGTGCATAACACAAAATCTGATTGGGAAGAGAATGTGTACTGATGGAATTAATTGACAATTATTCCAAAACAAAAATGGGAAAGTATATTATATTATGGCAAAGACTATCATTAAGTGCCAAGGGAATGTAAAGTAAAAGATAACCCTAGAAGGAGCTGAGCTGGGTCTTATAGGATGTAAAGGTTTGGGTTTGGCAGAGTGGAGGATGAGAGGGATAAGGTAAGACAAAGTGTAGCTGCATGAAGCGCTGGGGTGCACTGGGGCCGGTGGGTAGACCAGCTTGGCCACAGTGAAATGTATGGACTACAAGAGGGAATTATGGGAAGTGAAACTTCCAGTGTAAAGATCACCAGTTAATAGAGAGGCTTAGGATAGCCTCACCCAGGTGAGGAATGGGCTCTGACCCAAAGGAACTCATGACAATTGACAGCCAACTCTGACCCAGCACAGCACTGACCAGATAGATGCTTTAAGCAATGACAACTCCTGGTGGGATGGGCTTGCTACTCCGTTCCCACCTTATAGATGAGGGACACTGAGGCTTGGAGAGGTGATGTGCCCAAGGTCATGCAGTCGGGAGGAAGTAAAACTGGAATAGGAAGAGGAAGTAAAACCGGAATACAAAGAGGAAGTAAAACCGGAATACGAAACCACGCTCTTTGGTCAATATCACATTGCTTTGCCAAATGCTGCTGGGATTAATTGGTCAGGGACTGACAGGATGACAACACCATTTTGGAAAATGTCGCTGGACTTACTGAATCAGAATCTGCACTTGAACAAAACTCCCAGGTGATTCATAGGCACATTACAGTGTGGGAGGAACTGCTGTAATAATTTAGGCATGGCTTGATGAGACCCTGTAATGTGATATCAGTGGCAATGGGAAGAGAAAACTGACTCAGAGAGGGACGCTGGTGATGAGTCAGCAAACCCTGGAGGCTTAGAAGGATGTGGAGAGGTGAAGGAGAGAGTGCAGCGGAAAAGCCTTGGAGATTGTGAACCCAAGGGTGGAGAAAATGGTAATGCTATTGAAAGAAATGCAGAAGTTGGAACAGGCTCCTGGATTGAAAGGGAAGAAGTGACCTTGAGCATCTAACATGCTGAGTTTCAGGAGACGATAAGAAAAGCAAGTGTAAGTATCTGGCAAACAGTTGGCAGCAGGAGGATGGTCAGGGTTAGGGAGGCTGATGGGAGATCAAGGACGGGGTGATGGCGAGACTATGATGATTGGGGTTCAGGAGAGATTTGTTTAAGATGCTTAAGACAAAACCAGAAAATCTCTACCCGATGGTTTGTGATACCTGTAATCCGTAGTGAATATCCTTGGTGTCAAAGGAATAGTTGACCAGGGACGCCTCTCCCTTCAGTGTTATTTCGTAGGTGGGTCCTTCTTCCACTTCACACAGAGCTTTAGCTTGTGCAATGATGTTAGCGTGTCCATAGAAGGTGAACGATATTTGGTGGCTACTGTGTGGCTGCAACACTCCAAACAGGGGCAAAATATCAAACACCTGCAGAGAAAGTCATTCTGTAAGAGAGCAGCTGTTGGGATGAATGCCTGCCAAGGATAAGTGAAAGTTATGTCAATTTACACATTAATTCCAGTCTTTAACTCATTTGATAGAAGGTAGCCCAGCACCCTGAAAACACATAATGGTAATGATGGTAACAGTGCTCTGGTGAGATTTAAGTTTCTAATGTGGGGCAGCTGCTCAGTTAGAAAGTAAAGTTAGTGTCTGATAAGGTCAGGAATCACACGGTGTCACTTACTTCTTCTATCCCAATGGAAAGCATCTCATTCTGTTCACAGGTCTGTAGGGATTCCTGATCCTCCACCTGGCTCTGGCTTGAGTATATTCTTTCTATTTCAGTAGAGCTAATTTTTATTTCCTAGAAATTAAAGATGTGAGGAAAAGCTGGCAAGCATTCAAAATGGATCATCAATTGACAGAAAAATAAAGTATGTTGTATATGATTATAAAAATAGTACATTTTTTCCCAGGAAGATAATTGAGCAAGTGACTATAATGTACATACGAGGATGTTTACTGCAGCATTATTTATAACAGCAAAACTTTGGAAGCCAACTCAGTGCCCATCAATAGGGGGTCACTTTAAATGAAGTGTGTGTGGTACACCTATCCATGAAGGATAATGCATGTATATTTATGGATAGGGATGATGTGCACAACATATTATTGAGTGAAAAGCAGTTCTATTCATGTAAAATTACATATGCCTCATGTGTCTGAAGGTGTGTGTGTGTAAATTCCTTCAGAGATTTGCATTGGCAAATAGAAATATCTGGGAGGTTGTTTGCTAAGAATTTCGTAGCATTTTTCTCAGTGGGGTAGAAAGAAGATGGGAATTTTGAGGATGTTTGCTTTAATTTTTCTGTATTCTTGAGTTTATATGTACACACATGTACATATATATGTACATATATATTTTATTTTTGAGACAAGATGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCAGAGCTCACTGCAGCCTTGAATGCCTGGGCTCAAGTGACCTTCCCACCTCAGCCTCCCTAAAGTAGCCAGGACTGCAGGCGTGCACCACCACACCCTGGAGTCTCGTTATGTTGCCCAGGCTGGTCTTGAACTCGTGGCCTCAAGCCATCCTCCTGCCTTGGCTCCCAAAGTACTGGGGTTACAGGCGTGAACCACTGTTTCTGGCCTATTCTTGAGTTTTCTATGACACGCATCTTTGAAAACAGAAAAAGAAGAATTAATATTTAAAAGACAAATATTTTATATACTCACACATACTCATTCTAAAAAATTTTTAAAATATAGAAAGCTCCAAGGAAAGAAATAAAAGTCCATCTCAGGTTATACTGTAGATAAATATTATTATATATATGTGTGTATATATAGTGTATTATGTGTGCATACATATTTGTATTCTGATTTTTCAGTTGACCTAATATGAGTGCCATCTTCCCATATGACTGAATATTCTTCACAAACATCACTTAAAGTATTTTAGAAAGTTGATTGTACATGATACAAATTTAAAATATTCAAAAGGATATATGGTAAAAAGATAAAAAAAGACTTCTATCCCTACAGTTCTCCGGTTCTCCCCTCCTGAGGTACCCACTGTCCAGTTTCCTATATGTTGAATTTAGTTATTCCTCTTAATTCAGCTGATATTTACTGGGGACTTACTAAGAACCAGTTCTATATCCTGAGGATATGACGATGAACAAAACAGAAAAAAAATTCCTGCCCTCATGAAGATTAAATTCCAGAGATATTCCACGCACAAGCAAAGATATCTATGTAACTGTTTGAGAGATAACACAGTAGCTAAGAGCAAGCAAGATGGTCGAGTCTTCCAGCTCCACTGCTTGATGGACGTGTCCCTGCATTGGTAAAATGGGGAAAGATAGTGGTATCCACCTCACAGAGGTGTTGGGAAAAGTAAAAGAGTTAATGTAAAAAATTGCTTAGCTGGGGGCGATGTCTCATGGCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATTGCCTG
CCCTAGAACTTAAAGTATAATAAAAAGAATTAAAATAAATAAATTAAAAAAAAAAAGATTTGCCTTCTGGATTCTGTCCTGTAAGAAAAACAAAAGATTTGAGTTTAGAATGTTCTAGAATGAACTTTTCCATTCAAATGGAGAACCATGGGTGTAACAGGCCAGTCATGTTCTTTTTCCTGGAATTTTGCTAACATAATTCACCAGCTGGGTTAGCAGGCCCAATAACCACAAACAGGCCACTTTGGGGGTCCTTAGGAAAAGCTAGGGTGAGGTCTGACTGCTTCAAAGACTATACTCAGACATGAGCCGAAACCAAGTGCCCAAAGGACCCTGGAGACGACGAAGGCAAGAGAATTCTATTTGGTCAGCATCATGGAGATGGTCTCAGTAGGTGCTGGGTGAATCAGATTTTAGGCACAATCTTTGATCTATAAACACACATGCATGCACACAATTCAGTAATGATACATGCAGGAGCTATGTAATGGAGATTCAATCCTCATGGAAATTTGGTAGGAGATATGGTCTCCGAGTGCATAACACAAAATCTGATTGGGAAGAGAATGTGTACTGATGGAATTAATTGACAATTATTCCAAAACAAAAATGGGAAAGTATATTATATTATGGCAAAGACTATCATTAAGTGCCAAGGGAATGTAAAGTAAAAGATAACCCTAGAAGGAGCTGAGCTGGGTCTTATAGGATGTAAAGGTTTGGGTTTGGCAGAGTGGAGGATGAGAGGGATAAGGTAAGACAAAGTGTAGCTGCATGAAGCGCTGGGGTGCACTGGGGCCGGTGGGTAGACCAGCTTGGCCACAGTGAAATGTATGGACTACAAGAGGGAATTATGGGAAGTGAAACTTCCAGTGTAAAGATCACCAGTTAATAGAGAGGCTTAGGATAGCCTCACCCAGGTGAGGAATGGGCTCTGACCCAAAGGAACTCATGACAATTGACAGCCAACTCTGACCCAGCACAGCACTGACCAGATAGATGCTTTAAGCAATGACAACTCCTGGTGGGATGGGCTTGCTACTCCGTTCCCACCTTATAGATGAGGGACACTGAGGCTTGGAGAGGTGATGTGCCCAAGGTCATGCAGTCGGGAGGAAGTAAAACTGGAATAGGAAGAGGAAGTAAAACCGGAATACAAAGAGGAAGTAAAACCGGAATACGAAACCACGCTCTTTGGTCAATATCACATTGCTTTGCCAAATGCTGCTGGGATTAATTGGTCAGGGACTGACAGGATGACAACACCATTTTGGAAAATGTCGCTGGACTTACTGAATCAGAATCTGCACTTGAACAAAACTCCCAGGTGATTCATAGGCACATTACAGTGTGGGAGGAACTGCTGTAATAATTTAGGCATGGCTTGATGAGACCCTGTAATGTGATATCAGTGGCAATGGGAAGAGAAAACTGACTCAGAGAGGGACGCTGGTGATGAGTCAGCAAACCCTGGAGGCTTAGAAGGATGTGGAGAGGTGAAGGAGAGAGTGCAGCGGAAAAGCCTTGGAGATTGTGAACCCAAGGGTGGAGAAAATGGTAATGCTATTGAAAGAAATGCAGAAGTTGGAACAGGCTCCTGGATTGAAAGGGAAGAAGTGACCTTGAGCATCTAACATGCTGAGTTTCAGGAGACGATAAGAAAAGCAAGTGTAAGTATCTGGCAAACAGTTGGCAGCAGGAGGATGGTCAGGGTTAGGGAGGCTGATGGGAGATCAAGGACGGGGTGATGGCGAGACTATGATGATTGGGGTTCAGGAGAGATTTGTTTAAGATGCTTAAGACAAAACCAGAAAATCTCTACCCGATGGTTTGTGATACCTGTAATCCGTAGTGAATATCCTTGGTGTCAAAGGAATAGTTGACCAGGGACGCCTCTCCCTTCAGTGTTATTTCGTAGGTGGGTCCTTCTTCCACTTCACACAGAGCTTTAGCTTGTGCAATGATGTTAGCGTGTCCATAGAAGGTGAACGATATTTGGTGGCTACTGTGTGGCTGCAACACTCCAAACAGGGGCAAAATATCAAACAACTGCAGAGAAAGTCATTCTGTAAGAGAGCAGCTGTTGGGATGAATGCCTGCCAAGGATAAGTGAAAGTTATGTCAATTTACACATTAATTCCAGTCTTTAACTCATTTGATAGAAGGTAGCCCAGCACCCTGAAAACACATAATGGTAATGATGGTAACAGTGCTCTGGTGAGATTTAAGTTTCTAATGTGGGGCAGCTGCTCAGTTAGAAAGTAAAGTTAGTGTCTGATAAGGTCAGGAATCACACGGTGTCACTTACTTCTTCTATCCCAATGGAAAGCATCTCATTCTGTTCACAGGTCTGTAGGGATTCCTGATCCTCCACCTGGCTCTGGCTTGAGTATATTCTTTCTATTTCAGTAGAGCTAATTTTTATTTCCTAGAAATTAAAGATGTGAGGAAAAGCTGGCAAGCATTCAAAATGGATCATCAATTGACAGAAAAATAAAGTATGTTGTATATGATTATAAAAATAGTACATTTTTTCCCAGGAAGATAATTGAGCAAGTGACTATAATGTACATACGAGGATGTTTACTGCAGCATTATTTATAACAGCAAAACTTTGGAAGCCAACTCAGTGCCCATCAATAGGGGGTCACTTTAAATGAAGTGTGTGTGGTACACCTATCCATGAAGGATAATGCATGTATATTTATGGATAGGGATGATGTGCACAACATATTATTGAGTGAAAAGCAGTTCTATTCATGTAAAATTACATATGCCTCATGTGTCTGAAGGTGTGTGTGTGTAAATTCCTTCAGAGATTTGCATTGGCAAATAGAAATATCTGGGAGGTTGTTTGCTAAGAATTTCGTAGCATTTTTCTCAGTGGGGTAGAAAGAAGATGGGAATTTTGAGGATGTTTGCTTTAATTTTTCTGTATTCTTGAGTTTATATGTACACACATGTACATATATATGTACATATATATTTTATTTTTGAGACAAGATGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCATGATCAGAGCTCACTGCAGCCTTGAATGCCTGGGCTCAAGTGACCTTCCCACCTCAGCCTCCCTAAAGTAGCCAGGACTGCAGGCGTGCACCACCACACCCTGGAGTCTCGTTATGTTGCCCAGGCTGGTCTTGAACTCGTGGCCTCAAGCCATCCTCCTGCCTTGGCTCCCAAAGTACTGGGGTTACAGGCGTGAACCACTGTTTCTGGCCTATTCTTGAGTTTTCTATGACACGCATCTTTGAAAACAGAAAAAGAAGAATTAATATTTAAAAGACAAATATTTTATATACTCACACATACTCATTCTAAAAAATTTTTAAAATATAGAAAGCTCCAAGGAAAGAAATAAAAGTCCATCTCAGGTTATACTGTAGATAAATATTATTATATATATGTGTGTATATATAGTGTATTATGTGTGCATACATATTTGTATTCTGATTTTTCAGTTGACCTAATATGAGTGCCATCTTCCCATATGACTGAATATTCTTCACAAACATCACTTAAAGTATTTTAGAAAGTTGATTGTACATGATACAAATTTAAAATATTCAAAAGGATATATGGTAAAAAGATAAAAAAAGACTTCTATCCCTACAGTTCTCCGGTTCTCCCCTCCTGAGGTACCCACTGTCCAGTTTCCTATATGTTGAATTTAGTTATTCCTCTTAATTCAGCTGATATTTACTGGGGACTTACTAAGAACCAGTTCTATATCCTGAGGATATGACGATGAACAAAACAGAAAAAAAATTCCTGCCCTCATGAAGATTAAATTCCAGAGATATTCCACGCACAAGCAAAGATATCTATGTAACTGTTTGAGAGATAACACAGTAGCTAAGAGCAAGCAAGATGGTCGAGTCTTCCAGCTCCACTGCTTGATGGACGTGTCCCTGCATTGGTAAAATGGGGAAAGATAGTGGTATCCACCTCACAGAGGTGTTGGGAAAAGTAAAAGAGTTAATGTAAAAAATTGCTTAGCTGGGGGCGATGTCTCATGGCTGTAATCCCAGGACTTTGGGAGGCTGAGGCAGGTGGATTGCCTG
Task1_train_22882
This is a variant in TAT, TAT-AS1 (tyrosine aminotransferase| TAT antisense RNA 1), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Tyrosinemia type II
AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATTACAGCAAAAGTAATAATGATTATATAACAATGACAAGTGAAGATATTTCTGGCCCTTACACAGTAGTATTTCTGGAAGGTCTCTGATTCCTGCTTGCTCTAGTACAGGCGTGCTCTCACTTTAAGAAAGCCTGATGCCGCTGGGCGAGGTGGCTCACGCCTGTAATCCCAGTACTTTAGGAGACCCAGGCGGGCAGATTGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCTCACGCCTGTAGTCCCAACTGCTTGGGAGGTTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCATCTCAAAATAAAGAAAGAAAGAAACAAAGAAAAGAAAAGCTTATATTGAACTTCTCTAAAAAAAGAAAAAAAAGAAAGCCTGATGCACACAAATCTAAATTTGGCAAGTCGATCAATTAAAGGATATTTATTTGCATCACAAAATAATTCTTTACTCCCCCCAAAAATCAATAAAAAGTTCAAATAGCAACTTTTCCTAATGTGTTTAAAATGTAATCACCAAATACATGTGTCCCCAACTTCTTTCCAGTTATAATTCTATTGTGTAAAGTGAGGTATACCTGAAGTGAGGCAATAAGAGAGTTGAGCTTCAGACCTGCCTGGAGAGAGCGTGTTCTTTCTTAGAGTCTGAGGAAATGGTTGGGGGCACAAATTCTCTCAATCTTTTTCTTTTCCCTCATCCTGAGCTCTTATTTTCTTGTCTCAACTGCTTTCTGGTAAACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCC
AGCCAGAAGTTGAGCTCCCAAATAAAATGTTTTAGGAACTGTGGTTCTTAAGTAACTCCAAAAGTCAGTACATTTACAAAGAAGTAAATGAAACCTCATAGGTAATGAAACAATGAGACTGAGGAGTGCCTGGGATTAGAAATTCCCAAACGGAGAAAAAAACACATCACAGAAGAGCCATACTTGGTGAAATTTATTAAAAAAAAAAAAAGAAAAACAATAATTTATGCCCTTGGCAAAATAAAAGATCTTATCAATATAAATGTTTCTTAGAAAATGTATGAAAAGATAATATATATTAATAAATCAATATTAACATTACAGCAAAAGTAATAATGATTATATAACAATGACAAGTGAAGATATTTCTGGCCCTTACACAGTAGTATTTCTGGAAGGTCTCTGATTCCTGCTTGCTCTAGTACAGGCGTGCTCTCACTTTAAGAAAGCCTGATGCCGCTGGGCGAGGTGGCTCACGCCTGTAATCCCAGTACTTTAGGAGACCCAGGCGGGCAGATTGCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCTCACGCCTGTAGTCCCAACTGCTTGGGAGGTTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCATGGGCGACAGAGCAAGACTCCATCTCAAAATAAAGAAAGAAAGAAACAAAGAAAAGAAAAGCTTATATTGAACTTCTCTAAAAAAAGAAAAAAAAGAAAGCCTGATGCACACAAATCTAAATTTGGCAAGTCGATCAATTAAAGGATATTTATTTGCATCACAAAATAATTCTTTACTCCCCCCAAAAATCAATAAAAAGTTCAAATAGCAACTTTTCCTAATGTGTTTAAAATGTAATCACCAAATACATGTGTCCCCAACTTCTTTCCAGTTATAATTCTATTGTGTAAAGTGAGGTATACCTGAAGTGAGGCAATAAGAGAGTTGAGCTTCAGACCTGCCTGGAGAGAGCGTGTTCTTTCTTAGAGTCTGAGGAAATGGTTGGGGGCACAAATTCTCTCAATCTTTTTCTTTTCCCTCATCCTGAGCTCTTATTTTCTTGTCTCAACTGCTTTCTGGTAAACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTAGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCC
Task1_train_22883
This sequence variant lies in TAT-AS1, TAT, TAT, TAT-AS1 (TAT antisense RNA 1| tyrosine aminotransferase| tyrosine aminotransferase| TAT antisense RNA 1) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Tyrosinemia type II
ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTCCAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCCACAGGACAGGATGGGGACATCGGTGCTGAGGGTGGCCAGTGGTTCATATTTGCAATCCGAAAACACCTGAGAAGAGGCACTTGTTATGGTTGTTTTCTTGTCTACTTCTCACTGCAATCCCAGATCCCGTGGCTCCCACCCATTTCCTTCTATCACTAGGGACAGGTCCTTGGATTAATGGGATCATCCCTACCCTGAAGCATGACTGGGATTGCAAGAGGCTTTGAAGGGGACTACACAAAGACATTTAATTTGGTGTCTGGACTGGATTAAAGGAAGCCTAAAATGAGGAAACTGACCCTAGCCCAGTAATATTTACAACTCCATGAAGCTGGCTCTATGAAATTACTGTCTATAGGAGTTACAGATTTAAAATATAAGTCCACAATCCCTTATCTGAAATTCCTGGGGCCAGGTATTTTCATAATGCAAAATGGTTTGGGCTTCAGAAAGGCCATGTAGCACACTTACCATACGTTATGTAACACTCCCAGAGCTGTCTAGGATAGTACCCCTAATCAAGAATATTAACATTTCTGCCATTTTCCCCACACTCTTAACAAATATATAGATCCACAAGTGGGAAAAATAAAAATCTACAAATATCAGGTCAAATCAGGTTTTGTAACCAAATGAATTCCAGGAATCTTTGGATTTCCAAAGTTCTTTGGGTTTCAGAAAACTGGCTAAGGAGTTGTGGGTCTATATATTTGTAAAAAGTGCAGGGATGCTGATTTGCTGTAATGAAACGATTAGGAGTTGTTTCTGATTATTCCACTTCTAAAGTTCCCATAAAATAATTTGAGATTACTGTAGTGATATATCCTGATCAAGACTCACCATGTCTCCATAGATCTCATCAGCTAAGATGGGGACACACTGCCGTGCAGCCACTGAAAATAAAACATGCTGAAATCAGTTTTAATGTGAATTGCTTTATCATGTAATAGTCACATAATATCATGTAATTTCCCTATCCCGTAATATTAAGAAGTTACAATTCTTAAAGAGAAAGACAAAAAGCACAAGCAAAGTGTGATTTGCATTTCATGTTTGTGTGTTTTGTCTTCCTATTTAAGAACTGTAAATTCTTAACATACTCTTCCAGAGTGCAGAGCCTGAATTCACCATTTAAGTAACTAGATATTTCAGACCCTATCTTCAACGTGATGGGAG
ACTTTGTTCACCTGGTACTTTCAAGAAAAAAAGAAGGAAATCTTACGAGAGGGAGGCAGATTAATGAATTAGTGAGTCACTCTAGCAGCGCAGAGCAAGGGAGAATCTGCGATGTGAATGAGGAGGATCTGAGTGTGGGTGTGGTTGTACTTGGGGAAAAGCAGGAACAATCTTGAACCCTTGACATGGTGCATTTGAGGCCCCTCTCCCAGTAGGGCCACCTGAGTCCCTGAGGAGCCGCAAGGCCTAGTCCAGCCTTCCCTAGATGGGACACATCCTCAGGAGAATGGATGCAGGCCTATTTATCACACTCCTCCTGGCTGCCTTCAGCACAATGGTAGTGCTGCTCACAGAACTCCTGGATCCGGCTGCACGCCTCCAGCATCATCACCTCGGGGACTGTGATGACCACTCGGATGAAATTCGGGTACTCAAAGCACTGCAAAAAGAAGAGTCTGTTACTTTCAGAGCAATTGAGTCTGGTACTGGACCACCCTAAAATGGTCAGGACCCTGATCCACAAGAAGTGGTACCATTTCATCAGGGCCATCAGTTCATTCAGCTCCCATGACTGGGATGCTAAGTCAGCAACTGAGTTCATTCATCTTAAAATGACTTGTGGGACAGGATCAATTTCCTCTCACCTAGAACGTTTGTTTACAACTTTTCTTCCCAGTATGGATGGGATTATGATGGGGGGGAGAAGCAAATTTTAAATAGGATCCATGAGACACATCAGTTTGAATCTTATCAAATGAGAAGACATTTTGTTGGAGGAGAAAAGATCAGGCTAAAAACCAGCTCAGAACTTGCTTCTGGGGCTCTAGAAACTGTTGAGAATGTCCTGAGGGACACAGGCACCCACCGTTGCTGGGAGGCAGTGGACAGACTGCTCAGCAACTAACCGCTCCGTGAACTCCACATCGTTCTCAAATTCTGGGAAATGTTCCATCTCAATTCCAACCTATACCAACAGGAGGGAGAGGCCAACTTATCAGAAGGAGGGAGAACAGGCCAATTTCCTGTGCCAGAAATTAAGGTAGGGGCTACTTTAAAAGATATCTTGGAACTGTGCTACTGATCACTGATAAATAAGAGGGCTAATATTTATGGAATTTTTCTCAGGGAAGACAGGATATATTTTTATTAATAAATATTAAAGAGTTCCTTCCCTGATGCTGATAAATAAAAGCTGGAAATAGAATGCTAGTATGTCTCAAAAGAGACACTACTGGCATTAGGGCCAGGCAACTCTTTATGGCATGAGACTAGCCCACCCCTTGCAGGATATTTAACATCCCTGACCCACAAAATGGCAGCCCCTAGTCATTCTGAAAACAAACAAAATTCCCATACATTCCCAGATACCCTTAGGGAACCAGTATCACTCCCAGTTGAGAATTACAATGGTATGAAAAGCCTCTTATTTGTGTTTTAAATCTTCCCTGTATCTACATATATAAAATGATTCTCTGTACTGAAAAATTAAATCTTTTTTTTTTTTCTTTTCGGATGGGGTCTCACTCTGTCTCCCAGACGGGAGTACAGTGGCACGATTATGGCTCACTACAGCCTCAACCTCCAAGGCTCAAGTCATTCTTCCATCTCAGCCTCCCAAGGAGCTAGGACTACAGGAGTGTGCCACCACGCCCAGCTCATTTTTTTTATTTCTTGTAGAGACAATAGAGTTTCACCATGTTGCCCAGGCTGGTCTCTAACTCCTGCGCTCAAGTGATCCGTCCACCTTGGCCTCCCAAAGTGCTGGCATTGCAGGCGTGAGCCACCATGCCCTGCCTAATTAAGTCATTTAAAGAGTTTTATGAGAACTGATAGAGGCTAAATTACCTCAGTGGGACAATTCAGAATAAGACAACTCCTAAACTGCTTGGCTTAGGAGGCCAGCTGGTTGTCTTTGTACCCTGCGTGACTGCCTGTGGCAATTCTGCTGAATGACTGCCCTTTGCCTTACAACATGCATTGACCTAGTGCCTGCCACCCACATACTCACCATGAGGTACATAGCCCCAGAAGGGCGGACTGGCCGGAGTACAGGGATGGCAGCCAACGCCCCATAACAGAGATCAGCATTGGACTACAAGAAGAGGCAAGGAGAAATCAAGGATCAAAATTTAAGTAAAAGAAAAGCCAAGTCATTAAAAATAGCCCCCTCATTGAAGAGTGGGAACGTAGGTGTGATGTTCTGGCATAAGGAGTGAAAAAGAAAAAGCTCTATTACTTGAAGCTTTTCACCAGGGGCAGAGAGAATGGCCGGAAGTGAGAAACGTGTGTGTGGATGCTTACACCGATGCCGTCTCCTAATATTGGAACATGGCTCCAGAAAGGAGAACCAATTATTCCTAATTCCACGGGCGGCATTCTCTGACTCCCAAACTCCCAAAGTGGAGGGCAGGAGCTGCCCTTACCTTGAGGAAGCTCAGAGTGTTGTGGTAAAACTCTCCCGGGGTGCGACATAGGATGCTTTTCAGAGCTCCCTGGACAATGGTACAGGGTCCCAAAATGCGCTGACTCAGCTTCACCAGCCCATCTCGGATCTAAAAGACACCCACAAGAAACATGTTGTTTAGCTTTTCTTAAGCATCTCTGTCTTAGAGTTTCTTGTTCTGACCTTTCTATCAGGTTTTTAATCTTGGAAAGTGATGGTGTCTAGTGGCATTCTTAGATCAGACCCTCTGGGTTCGTAGCCCAGCTCTGCCACACACATGCTGCTTGACTGACAAGGAGAAAGAAAAGAAAAAAGCCTCCCTTGTCCCCACTGTGCTCATGAAATAAATATATACCCTAAATTACACATACTCTTTCACCATATTATCACCTCATTGCCAAAAATGTCTCTTCGGTCATGAATGAGGATCCAGCCCAACCTCCAGCCAGGAACCAGCCAGCGCTTGGCCAGCCCTCCACAGGACAGGATGGGGACATCGGTGCTGAGGGTGGCCAGTGGTTCATATTTGCAATCCGAAAACACCTGAGAAGAGGCACTTGTTATGGTTGTTTTCTTGTCTACTTCTCACTGCAATCCCAGATCCCGTGGCTCCCACCCATTTCCTTCTATCACTAGGGACAGGTCCTTGGATTAATGGGATCATCCCTACCCTGAAGCATGACTGGGATTGCAAGAGGCTTTGAAGGGGACTACACAAAGACATTTAATTTGGTGTCTGGACTGGATTAAAGGAAGCCTAAAATGAGGAAACTGACCCTAGCCCAGTAATATTTACAACTCCATGAAGCTGGCTCTATGAAATTACTGTCTATAGGAGTTACAGATTTAAAATATAAGTCCACAATCCCTTATCTGAAATTCCTGGGGCCAGGTATTTTCATAATGCAAAATGGTTTGGGCTTCAGAAAGGCCATGTAGCACACTTACCATACGTTATGTAACACTCCCAGAGCTGTCTAGGATAGTACCCCTAATCAAGAATATTAACATTTCTGCCATTTTCCCCACACTCTTAACAAATATATAGATCCACAAGTGGGAAAAATAAAAATCTACAAATATCAGGTCAAATCAGGTTTTGTAACCAAATGAATTCCAGGAATCTTTGGATTTCCAAAGTTCTTTGGGTTTCAGAAAACTGGCTAAGGAGTTGTGGGTCTATATATTTGTAAAAAGTGCAGGGATGCTGATTTGCTGTAATGAAACGATTAGGAGTTGTTTCTGATTATTCCACTTCTAAAGTTCCCATAAAATAATTTGAGATTACTGTAGTGATATATCCTGATCAAGACTCACCATGTCTCCATAGATCTCATCAGCTAAGATGGGGACACACTGCCGTGCAGCCACTGAAAATAAAACATGCTGAAATCAGTTTTAATGTGAATTGCTTTATCATGTAATAGTCACATAATATCATGTAATTTCCCTATCCCGTAATATTAAGAAGTTACAATTCTTAAAGAGAAAGACAAAAAGCACAAGCAAAGTGTGATTTGCATTTCATGTTTGTGTGTTTTGTCTTCCTATTTAAGAACTGTAAATTCTTAACATACTCTTCCAGAGTGCAGAGCCTGAATTCACCATTTAAGTAACTAGATATTTCAGACCCTATCTTCAACGTGATGGGAG
Task1_train_22884
A mutation found in AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; not provided
TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGGTTCCCTGGATAAGTGAACATATCTGGAAACATTTCAACTTCAAATCTAGCAGCAAATGCCATTTCAAAGAGTGATAAAAAGGTATACAGTCAACTGACTTCAGTGGCTCATGCCTATAATCCCAGTACTTTGGGACGCCAAGGAGGAAGGAGTGCTTGAGGCCAGGAGTTCCACACAAACCTGGGTAACATAGCAAGACCCCATCTCTACAAAATAAAAATTAAAAAATTAGTGGCACATGATGATTTGCAGCTACAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATGGCTTAAGCCCAGAAGTCCAGGCTGCAGTAAGCTATGACTGGGCCACTGCCCTCCAGCCTGGGTGACAGAGCAAGACTCCGTTTCTAAAATTAAAGAAAAAAAAAAAAGAGGGTACATAGTCAAACTCAGATGTTTCCCATAAGATTGCAATAAGAGTTGCTAAGCTGAGAAATGAGATTTGTTTTCAGTTTCAGAGAAAATGAATCATTCAGTCAGGGCAGGAGACGATAAAGAAGAAAGAAGAAAAGGGACTGTTTTCAGACCAAGACAACATTTGGACTAAAAACTTGTTTCCTTAAATTCAGAGTGGAAAGAAGAGAAAGAATAGCTGTACTACTAAAATCATAAGGTACTTCCTCAAAATTCTGCATAGAGCTGCAATTCAGGTGCTGTAACTGTTCTATTGCCTTTATTAAAACAGCATCACAGGCCAGGTGTGGTGGCTGATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGAATCGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGACAACATAGCGAAACCCCATCTCTACAAAAAGAAAAAAACAAACCCAGAAATTAGCAGGGTGTGGTGGCGTAAGCCTATGGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGGATCCCCTGAACCTGGGAGGTCAAGGTTGCACTGAGCCGAGACTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAAACCCAAAACAAAAAAAACCAGCATCATAGATGAGAGGTTAAAGAACAGATAAAGGAGAAGATTTCATAAAAGTGTGAAATTTTTTTGGTCTCAGCATATTTAAATGCTGGCTATAATAGCCTTCTCCAAGCTAATTTATAATTGAGGGTTTGAAATAAATGTTATGTGTTTTAAACATATTTAAAGTAGTTTCCCCATTTTTTTTTTTTTGTTTTGTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAACCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCGCGTGCCACCAGGCCCAACAAATTTTTGTATTTTTAGTGGCGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCACCTGCCTTGGCCTCCCAAACTGCTGAGACTGCAGGCGTGTGCCACCGCGCCCAGCCCCCTCCCCATGTTTTAAAGACACTTCCAAAAGTTCCAAGCAGACTTTACCAATAAAGGTAAAAATTAAATCTTACTTTTCTGCAGCAAGAAAGATTCCAGATGCACAGTCTGCTTTAAATTCTGGCTCACACGAATCCAGAAAATAAAGTAATTCTTTCATCATGCCTCGGATATTATTCCCATTTACCAGGGCAAAACTCAATTCCATTGCACGCCTTGCAGAAGGGAAAAATTAAAAACAGTTAAGAAATTTATAGTGGAAATGAAACAAAGACCCAGGTATGCACTCTGTGAACACCAAGTACTGCCAGATGTGCTGACGTCCTTGCACGATCTTGTGATCCCAATCTTTGCACACGAAATAACCAAGGAGATGTATTCTTACATAATCAAAGTTAGTTTTGATATTTTGAATCTTCATGCAATATTCTTCTTCAAAAGTCCCTACGAGATATACCACTAATGTCCAAACATGCAGCTTGGGTTCAACAGGCTGTTCTACAAAGGTGGAAGTTAGAATACCTGAGAGTCTCAAAAAGAGGGGCAACAAATAAATGTATTACCCAATAATAATACCTATCTGCCTCATTCCTTAAAAATGTGACATGTTAAGTCACCATATTCTACTTTTATTACACCCCACTCTGTCCAAACATGATGTAATATAGTTTATGTCAAAAGGTATGCAGAAAATTCAAATTAAAAACAAATTCAAGGCCGAGCGTGGTGGCTCACACCTGTTTTCTCACCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATGGTGAAAGCACTTCTGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGGTACTAGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACAGAGATTGCAGTGAAGTGAGGCACTCCAGCCTCGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCAAAGGGAAAATGAGGGCCATGAGAAGGAAAAAAAAAATGGCATGTCCTAGGAGGACAAATAAGAGTTTCTATAACTGCCTATTCAAAGTTGGCAATGAAGTTAAAAATAGGAATGTTTAACATGTAAAAGCTGTAAGGTTGCTATATGCATCTTTCCATACTTGGTCAATAATATCAAACACTATATGTACACTGACTTTCAAAAGTAACAATTTAGGCTGGGCACAAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTAGCCAATACGGCAAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGGTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACTCAGGAGACGGAAGTTGCAGTGAGCCGAGGTCGCACCACCACACTCCAGCCTGAGCGACACAAGACTCCGTCTCCAAAAAAAAAAAAAAATTAACGAGTGGGGATACTTTCATCTTAGCTAACATGTAAGTAGCAAAAAATTCAATCCTTAGATATAATAACTTTTATAGGGTGCTTATGTAATTTACATATATTAATTCAATTTATCCTGCATAACCCTATGAAGTGGTTGCCCTTCTATCTGTATTTTACTTATGAGGCAATTGAGGCACTGAAAGTTTAAGTAATTTGACCCAGTCTATTAAAGGCAGAGTCAGAAAATGAAATGAGGCAGTCTGGCTCCAGAGTCTAAGCTCTTACTGTTATATATCCTTTCAAAGAGACACAAGTTTCACTTTTTTTGAAATTCACAGCCCAGTAATGAGCTAGAGAGAAACAACACAAAAAGAGTCAGAAGGCTAATATCTATTCCCAGGACTGCCCCTTACAAGGATTAAGGTTTAGGTTAAGTCATTTGATCCCCATGGGACTGAATTGTAACTAATCTGTTAATTAGGGATAGAAGTAGTTGCTTAGGCTCTCTCATTGGCCTGCTCTGAGAACCCACTGAGAGGGTACTTATAAAATCTTTTGCAAAGCACTATATAAAAGTTGGTGTTATTAAGTTTAGGTCTTATCTTTAGATTGCTCAAGCACTTAGCACCTTTTATTTGTACCTGTTCTGTGCAAATCAAAGGAACTCACCATCAATAAATGTTTGTTAACTGAATGGTTTCAGAGATCACTTTAAATATACTTTGTTCTAGATTTGAACATACAACCAAAA
TGGTGGGTGCCTGTAGTTCAGCTACTCTGGGAGGTTGAGGTAGGAGGATTGCCTGAGCCTAGGAGGTTGAGGCTACAGTGAGAAAGAAGAGAGAGAAAAGAAAGAGAAGAAACAGAAGAAAGAAAAGAAAGGGAAGAAAGAGAAGAGAAGAAAGAAAAGAAAGAAGGAAAGAAGATGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAACAAAAAAGAGAGAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGGAAGGAAAGGAAAAGAAAGGAAAAGAAAAGAGAAGAAAATCCTGTCCTACAGTCTTTTCTAGGTTCCCTGGATAAGTGAACATATCTGGAAACATTTCAACTTCAAATCTAGCAGCAAATGCCATTTCAAAGAGTGATAAAAAGGTATACAGTCAACTGACTTCAGTGGCTCATGCCTATAATCCCAGTACTTTGGGACGCCAAGGAGGAAGGAGTGCTTGAGGCCAGGAGTTCCACACAAACCTGGGTAACATAGCAAGACCCCATCTCTACAAAATAAAAATTAAAAAATTAGTGGCACATGATGATTTGCAGCTACAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGGATGGCTTAAGCCCAGAAGTCCAGGCTGCAGTAAGCTATGACTGGGCCACTGCCCTCCAGCCTGGGTGACAGAGCAAGACTCCGTTTCTAAAATTAAAGAAAAAAAAAAAAGAGGGTACATAGTCAAACTCAGATGTTTCCCATAAGATTGCAATAAGAGTTGCTAAGCTGAGAAATGAGATTTGTTTTCAGTTTCAGAGAAAATGAATCATTCAGTCAGGGCAGGAGACGATAAAGAAGAAAGAAGAAAAGGGACTGTTTTCAGACCAAGACAACATTTGGACTAAAAACTTGTTTCCTTAAATTCAGAGTGGAAAGAAGAGAAAGAATAGCTGTACTACTAAAATCATAAGGTACTTCCTCAAAATTCTGCATAGAGCTGCAATTCAGGTGCTGTAACTGTTCTATTGCCTTTATTAAAACAGCATCACAGGCCAGGTGTGGTGGCTGATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGAATCGCTTGAGTCCAGGAGTTCGAGACCAGCCTGGACAACATAGCGAAACCCCATCTCTACAAAAAGAAAAAAACAAACCCAGAAATTAGCAGGGTGTGGTGGCGTAAGCCTATGGTCCCAGCTACTTGGGGGGCTGAGGCAGGAGGATCCCCTGAACCTGGGAGGTCAAGGTTGCACTGAGCCGAGACTGTGCCACTGCACTCCAGCCTAGGTGACAAAGTGAGACCCTGTCTCAAAAAAACCCAAAACAAAAAAAACCAGCATCATAGATGAGAGGTTAAAGAACAGATAAAGGAGAAGATTTCATAAAAGTGTGAAATTTTTTTGGTCTCAGCATATTTAAATGCTGGCTATAATAGCCTTCTCCAAGCTAATTTATAATTGAGGGTTTGAAATAAATGTTATGTGTTTTAAACATATTTAAAGTAGTTTCCCCATTTTTTTTTTTTTGTTTTGTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCATAACCTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCGCGTGCCACCAGGCCCAACAAATTTTTGTATTTTTAGTGGCGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACTTCATGATCCACCTGCCTTGGCCTCCCAAACTGCTGAGACTGCAGGCGTGTGCCACCGCGCCCAGCCCCCTCCCCATGTTTTAAAGACACTTCCAAAAGTTCCAAGCAGACTTTACCAATAAAGGTAAAAATTAAATCTTACTTTTCTGCAGCAAGAAAGATTCCAGATGCACAGTCTGCTTTAAATTCTGGCTCACACGAATCCAGAAAATAAAGTAATTCTTTCATCATGCCTCGGATATTATTCCCATTTACCAGGGCAAAACTCAATTCCACTGCACGCCTTGCAGAAGGGAAAAATTAAAAACAGTTAAGAAATTTATAGTGGAAATGAAACAAAGACCCAGGTATGCACTCTGTGAACACCAAGTACTGCCAGATGTGCTGACGTCCTTGCACGATCTTGTGATCCCAATCTTTGCACACGAAATAACCAAGGAGATGTATTCTTACATAATCAAAGTTAGTTTTGATATTTTGAATCTTCATGCAATATTCTTCTTCAAAAGTCCCTACGAGATATACCACTAATGTCCAAACATGCAGCTTGGGTTCAACAGGCTGTTCTACAAAGGTGGAAGTTAGAATACCTGAGAGTCTCAAAAAGAGGGGCAACAAATAAATGTATTACCCAATAATAATACCTATCTGCCTCATTCCTTAAAAATGTGACATGTTAAGTCACCATATTCTACTTTTATTACACCCCACTCTGTCCAAACATGATGTAATATAGTTTATGTCAAAAGGTATGCAGAAAATTCAAATTAAAAACAAATTCAAGGCCGAGCGTGGTGGCTCACACCTGTTTTCTCACCACTTTGGGAGGCCAAGGCAGGCGAATCACCTGAGGTCAGGAGTTTGAGACCAGCATGGCCAACATGGTGAAAGCACTTCTGTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGGTACTAGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGACAGAGATTGCAGTGAAGTGAGGCACTCCAGCCTCGGAAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCAAAGGGAAAATGAGGGCCATGAGAAGGAAAAAAAAAATGGCATGTCCTAGGAGGACAAATAAGAGTTTCTATAACTGCCTATTCAAAGTTGGCAATGAAGTTAAAAATAGGAATGTTTAACATGTAAAAGCTGTAAGGTTGCTATATGCATCTTTCCATACTTGGTCAATAATATCAAACACTATATGTACACTGACTTTCAAAAGTAACAATTTAGGCTGGGCACAAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTAGCCAATACGGCAAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCGGGTGTGGTGGCAGGCGCCTGTAATCCCAGGTACTTGAGAGGCTGAGACAGGAGAATCGCTTGAACTCAGGAGACGGAAGTTGCAGTGAGCCGAGGTCGCACCACCACACTCCAGCCTGAGCGACACAAGACTCCGTCTCCAAAAAAAAAAAAAAATTAACGAGTGGGGATACTTTCATCTTAGCTAACATGTAAGTAGCAAAAAATTCAATCCTTAGATATAATAACTTTTATAGGGTGCTTATGTAATTTACATATATTAATTCAATTTATCCTGCATAACCCTATGAAGTGGTTGCCCTTCTATCTGTATTTTACTTATGAGGCAATTGAGGCACTGAAAGTTTAAGTAATTTGACCCAGTCTATTAAAGGCAGAGTCAGAAAATGAAATGAGGCAGTCTGGCTCCAGAGTCTAAGCTCTTACTGTTATATATCCTTTCAAAGAGACACAAGTTTCACTTTTTTTGAAATTCACAGCCCAGTAATGAGCTAGAGAGAAACAACACAAAAAGAGTCAGAAGGCTAATATCTATTCCCAGGACTGCCCCTTACAAGGATTAAGGTTTAGGTTAAGTCATTTGATCCCCATGGGACTGAATTGTAACTAATCTGTTAATTAGGGATAGAAGTAGTTGCTTAGGCTCTCTCATTGGCCTGCTCTGAGAACCCACTGAGAGGGTACTTATAAAATCTTTTGCAAAGCACTATATAAAAGTTGGTGTTATTAAGTTTAGGTCTTATCTTTAGATTGCTCAAGCACTTAGCACCTTTTATTTGTACCTGTTCTGTGCAAATCAAAGGAACTCACCATCAATAAATGTTTGTTAACTGAATGGTTTCAGAGATCACTTTAAATATACTTTGTTCTAGATTTGAACATACAACCAAAA
Task1_train_22885
Gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Usmani-Riazuddin syndrome, autosomal recessive
CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACAAGGCTATAGGCTAATAGTTCTAATATTAATAAATGATAGAATGAACAAATTCATGAAGGAGAAGGGATAACTCCTCTTTATAGAAGAATTCCAATTAATGAGAAAAAAATGAGGGAAATGAAAAATTGTCATTAGAATACATCTTAATAATTGTTGTGGGCCAGATCCTCTGGTGGATACTAAAACTGATAGGTAAAAGTCTGAGAATAGGATATTTACATAGTCTCAAAATATCTGCCAAAATATTTTTAATTACAAAAGAAAAAATAATGACTTTACAGTGGACAGACCCAGCAGACACCATCTCAACCAAATGATCAAGGTTAACGTCACCAATGATAAGACAAATATATCTACTATATTGCTACACCTGAGATCTCCCAAAGTTTATTATAATCAATGTTAAGCCTTCAGTGGGAAGGAATATTTCAGATACCAAAAATCCAGCATTCCACATTTTGCATCATTCTTTCTTAAAGTCGAGTTCCAAATGGAATACAATTCTGAAGTACTGAAGTCCAAGTCAACCATTCTAAGTGAAACATTTAGGGGGGGAAGAAAAGATTCAAAAAGACTTACTCGCAATCCACTCTCTGACTTAATATCCATGATAGTCAAAACCGTTTCATAAAGAATAGCATTTCCTACATTTTTACTAGTCTCAGTATTAGTGGCAACCTGAAAAGACATATCGAGGGCAGTACATAAGTGATAAAAACAATGCTCCCAAAACATATTCACAGGTAACAAGAGGCATTTTGTGATTACAGCTATGAATGAGGAAACACAAATAAAAACTGCTCCATATAACCATAATCATTCTACTCCCAGCGAAACTAAAATAAATATATATTTAATATGTTTGGTCTACTCACCTGTGCTAATATATCATTCATAGCTTCACTTGAATCATCATCATTTCGTCCTAAAATTCTTAATAACCGCAAAATTCGTACCTAACGTGCAAAAGATGAGAGGTGTCAACAAATTATGTCTCACACAAAGAAATCTCACTTGGTATGAAATTCAAATAACTAAATGAAGTCTTAGAAATTCATTTGGAACCATTTATTCATATCAGAAATAGTCAAAAATCAAACAGAAGAATTGAAAACATTTTCTTTATTTAGAGAAGCTATATATGCTTCTACATCTAATAAAGTTATTATAAAACAACCCACACTTCAGTACTCCACAGCTAAAGGATACTACCAGATACTACCACCTGCAGAGCTATATTAAATAATTCAAATAATAAATGATTTTGACTATTAAAACTGTAATTTGAAGTGGGGCACAGTGGCTCTTGCCTGTAATCCCAGTACTTTGAGAGGCTGAGGGGGGCGGGCTACTTGAGTCCAGGAGTTTGAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTACAAAATATACAAAATGAGCCGGGCATGGTGGCATGCACCTGAAATCCCAGCTACTTGGGAAGATCACTTGACCCTGGGAGGTCGAGGCTGCAGTGAGGCAAGATTGTGCCACTGCACTCCAGCCTAAGTGACAGAGCAAGACCTGTAATTGTATCCTCTTAATCTAATATAGAATTGTGTCACTATTCATTAATATAATTAATCAATTAACTACCAAATTTCTACTCAACACAAACTTAAGAGGAAGGAAATTGTCTACTTAAAGATATTAAATTCATATAACATTTATTTAAAACGTTCTTTCAACCTCACCTGCAAAAAGGGGTCACTGATACCAGAAACATCATGTTCTGGTGAATATCCGGACATGATGAGGTTCTTTAAAATACGAACTAATTGGGGCACAAGCTGCAGAGAAGAAAGATGCATCAAAAAACAGTGAATATTGAAGAATGTCTCATGAATAAGCAGGTCCTTTGGTTTAGAAAAAGGGTGTAAGGGTCCCAGTCCAAGCAAATTCTACTGATTTAATATACTAGTGTATTGTAGATGTTTGATAAACTTAGGAGTAACTTAGGGCAATATTCAAGAAGTAGTATGTATTTTATCTGGATAAAACCAAACCAGACTTTTTTATGCAAGAGTTATATGTAAAGATATTACAAATAATATTGGGTCAGAAAGCCTATGGGAACCAGGTAAAACAGATGCCTATGGGGCATACCGCATTTCTAGTTCTGTAGAACTTGAAAAGCCTAGGTGGCAAAAACATGTTCAGTTTTCACCCATTCAAACATTTGCATGTAACATGTCATCATGCCAAAATACAACTAGTGATCTTATTAAAATTATAGCTTTAAAACATACAACCTCAAATAGAGAAAAAAATCTCTTCTCTTAAGATAGAAGAGTTATACCCTTTTCCAACAAACAACAGGGAATACCAAAGCTGACAATAGTAATACGGTAATCAAATGGAAGACACATGAAAAAATTACATCTTTCATCTTAAGAGACATCAAGGCCATGAATAATTTCCTCTTCCTATTCTTAACTCCTATGATACAATTTTTTTAAATTTCAGGACTTATTTATATATATGGCTTTATGGCCTGTTTTCTTGTCTTTTCAATGAGACTATACATTCCTTATAATCAGGAATTTCCTTCCTATCCTTCCTTTACTTTATCCATTAAGAGTCCTAACACATAGTAAAGGCAATTTTACTGCCAAGCCGAAGATGTTTTAAATATTGGCACTCATTTCATTTCTGTTGATCAATTACTTGATATTAAAACAAAAGGTTTGCCACAATAGGAACTTTTTATGTTTCCAACTAAAAACTCAATTTTTAGCTATATAAACAACTCTAATGACCAAAAATTAAGTTAAATAGTGTGCAAAGTGAATTGCATTCCATCTCTTTTGCAGGCAATTTTAGCTACAACTCTGCTGCAACTCAGTTATTTTTTCTCACTATATTTAGACTCTGTCCCTTCCCTACTCCCCAAGCCTAAAAGGGGATCAAGATTGAAATGAAAAGCCAAGCTATATCCAAGGCATGCACTCAAAGCATTCAAAACATTAAGGCCACTTATAAACACAAGAAAACACAGTATGTAAGAATTTAAATAAGTTGAGCCATAACAGTTTGGAATTAAGTAACTTATAAGTCACCTAAACAAAAGTCTACTTTGGACAACTCCAAATAAGACAAATCTAAGCCATGGAGATCTGTAAATTCATTAAATCTGTCAACTATGGGCAAAGTTATATTAGAGATAATAATATACCTTTTAAAACCACTTTAAATCAATATTTTTGTAATAAAATGAAGACCAAGTAGTTACCAACCTTATCTTACATACTTCCCAATGGTCTGTTTTTTTTGTACTAGATATAACCCTAGTTATTTTTTATCTGGTTTATTTCTTGGAAAAGTCATTTTTCCTTGGGCTACTAAATTCAGAAATTGTTTTATCCACTGCCAAAAAGGCCAGCACATCACATAACATTACCCTGGGACACAGAGCACAAATGACTAAATGTTCAGCATACAATTCTTGGAACCCAGTTTCATTTTTCAGACAAAAATGCAAGTTATTAAAACTGATGACAAGACAAACAAAATAAGATGACACAGGGAAAGGCTGCAGCCATGAAAATCAGTTGGTGCCCACTACTCTACCTCAAAATCCTTTTAATATTCCAAAACTTCTATGTAAGATTAAGTACAGGTAAGAGAGAAATAAAATCTCTAAGTGTGAACTGAAAGCTCAGCAGTACATACGGAGCTTTTTAAAGTATGAGGTTACCCACATGCGGTTCTAAAATATCTACTTCAAAAAGCAGCAGCATTTTGTGTCAAAG
CAAGATGAGTGTACTAACTGAACTGTTCACTTAAAAATGCTTAAAATGGTTAATTTTATGTTATATATATTTTATCACAATTAAGAAAAAAAGAACATGACTTATCTCTATGCATGAATTTGGAAGTGGCTCCAAGATAATGTTAGGTGAACAAAGTATGGTGCGAACAATATATATGGTATGTTACCATTCTGTCTGAAAGGTGGGGAGAGGAAAAGAACTTAACCTAAGTTACTTTGGTTATCTAACTAGATACTATAATGCTACCGACAAAAAGAACTGTACACAAATATTATACTCTAGTAAATTTGCTTTTTACAAGGCTATAGGCTAATAGTTCTAATATTAATAAATGATAGAATGAACAAATTCATGAAGGAGAAGGGATAACTCCTCTTTATAGAAGAATTCCAATTAATGAGAAAAAAATGAGGGAAATGAAAAATTGTCATTAGAATACATCTTAATAATTGTTGTGGGCCAGATCCTCTGGTGGATACTAAAACTGATAGGTAAAAGTCTGAGAATAGGATATTTACATAGTCTCAAAATATCTGCCAAAATATTTTTAATTACAAAAGAAAAAATAATGACTTTACAGTGGACAGACCCAGCAGACACCATCTCAACCAAATGATCAAGGTTAACGTCACCAATGATAAGACAAATATATCTACTATATTGCTACACCTGAGATCTCCCAAAGTTTATTATAATCAATGTTAAGCCTTCAGTGGGAAGGAATATTTCAGATACCAAAAATCCAGCATTCCACATTTTGCATCATTCTTTCTTAAAGTCGAGTTCCAAATGGAATACAATTCTGAAGTACTGAAGTCCAAGTCAACCATTCTAAGTGAAACATTTAGGGGGGGAAGAAAAGATTCAAAAAGACTTACTCGCAATCCACTCTCTGACTTAATATCCATGATAGTCAAAACCGTTTCATAAAGAATAGCATTTCCTACATTTTTACTAGTCTCAGTATTAGTGGCAACCTGAAAAGACATATCGAGGGCAGTACATAAGTGATAAAAACAATGCTCCCAAAACATATTCACAGGTAACAAGAGGCATTTTGTGATTACAGCTATGAATGAGGAAACACAAATAAAAACTGCTCCATATAACCATAATCATTCTACTCCCAGCGAAACTAAAATAAATATATATTTAATATGTTTGGTCTACTCACCTGTGCTAATATATCATTCATAGCTTCACTTGAATCATCATCATTTCGTCCTAAAATTCTTAATAACCGCAAAATTCGTACCTAACGTGCAAAAGATGAGAGGTGTCAACAAATTATGTCTCACACAAAGAAATCTCACTTGGTATGAAATTCAAATAACTAAATGAAGTCTTAGAAATTCATTTGGAACCATTTATTCATATCAGAAATAGTCAAAAATCAAACAGAAGAATTGAAAACATTTTCTTTATTTAGAGAAGCTATATATGCTTCTACATCTAATAAAGTTATTATAAAACAACCCACACTTCAGTACTCCACAGCTAAAGGATACTACCAGATACTACCACCTGCAGAGCTATATTAAATAATTCAAATAATAAATGATTTTGACTATTAAAACTGTAATTTGAAGTGGGGCACAGTGGCTCTTGCCTGTAATCCCAGTACTTTGAGAGGCTGAGGGGGGCGGGCTACTTGAGTCCAGGAGTTTGAGACCAGCCTAGGCAACATGGCAAAACCCTGTCTCTACAAAATATACAAAATGAGCCGGGCATGGTGGCATGCACCTGAAATCCCAGCTACTTGGGAAGATCACTTGACCCTGGGAGGTCGAGGCTGCAGTGAGGCAAGATTGTGCCACTGCACTCCAGCCTAAGTGACAGAGCAAGACCTGTAATTGTATCCTCTTAATCTAATATAGAATTGTGTCACTATTCATTAATATAATTAATCAATTAACTACCAAATTTCTACTCAACACAAACTTAAGAGGAAGGAAATTGTCTACTTAAAGATATTAAATTCATATAACATTTATTTAAAACGTTCTTTCAACCTCACCTGCAAAAAGTGGTCACTGATACCAGAAACATCATGTTCTGGTGAATATCCGGACATGATGAGGTTCTTTAAAATACGAACTAATTGGGGCACAAGCTGCAGAGAAGAAAGATGCATCAAAAAACAGTGAATATTGAAGAATGTCTCATGAATAAGCAGGTCCTTTGGTTTAGAAAAAGGGTGTAAGGGTCCCAGTCCAAGCAAATTCTACTGATTTAATATACTAGTGTATTGTAGATGTTTGATAAACTTAGGAGTAACTTAGGGCAATATTCAAGAAGTAGTATGTATTTTATCTGGATAAAACCAAACCAGACTTTTTTATGCAAGAGTTATATGTAAAGATATTACAAATAATATTGGGTCAGAAAGCCTATGGGAACCAGGTAAAACAGATGCCTATGGGGCATACCGCATTTCTAGTTCTGTAGAACTTGAAAAGCCTAGGTGGCAAAAACATGTTCAGTTTTCACCCATTCAAACATTTGCATGTAACATGTCATCATGCCAAAATACAACTAGTGATCTTATTAAAATTATAGCTTTAAAACATACAACCTCAAATAGAGAAAAAAATCTCTTCTCTTAAGATAGAAGAGTTATACCCTTTTCCAACAAACAACAGGGAATACCAAAGCTGACAATAGTAATACGGTAATCAAATGGAAGACACATGAAAAAATTACATCTTTCATCTTAAGAGACATCAAGGCCATGAATAATTTCCTCTTCCTATTCTTAACTCCTATGATACAATTTTTTTAAATTTCAGGACTTATTTATATATATGGCTTTATGGCCTGTTTTCTTGTCTTTTCAATGAGACTATACATTCCTTATAATCAGGAATTTCCTTCCTATCCTTCCTTTACTTTATCCATTAAGAGTCCTAACACATAGTAAAGGCAATTTTACTGCCAAGCCGAAGATGTTTTAAATATTGGCACTCATTTCATTTCTGTTGATCAATTACTTGATATTAAAACAAAAGGTTTGCCACAATAGGAACTTTTTATGTTTCCAACTAAAAACTCAATTTTTAGCTATATAAACAACTCTAATGACCAAAAATTAAGTTAAATAGTGTGCAAAGTGAATTGCATTCCATCTCTTTTGCAGGCAATTTTAGCTACAACTCTGCTGCAACTCAGTTATTTTTTCTCACTATATTTAGACTCTGTCCCTTCCCTACTCCCCAAGCCTAAAAGGGGATCAAGATTGAAATGAAAAGCCAAGCTATATCCAAGGCATGCACTCAAAGCATTCAAAACATTAAGGCCACTTATAAACACAAGAAAACACAGTATGTAAGAATTTAAATAAGTTGAGCCATAACAGTTTGGAATTAAGTAACTTATAAGTCACCTAAACAAAAGTCTACTTTGGACAACTCCAAATAAGACAAATCTAAGCCATGGAGATCTGTAAATTCATTAAATCTGTCAACTATGGGCAAAGTTATATTAGAGATAATAATATACCTTTTAAAACCACTTTAAATCAATATTTTTGTAATAAAATGAAGACCAAGTAGTTACCAACCTTATCTTACATACTTCCCAATGGTCTGTTTTTTTTGTACTAGATATAACCCTAGTTATTTTTTATCTGGTTTATTTCTTGGAAAAGTCATTTTTCCTTGGGCTACTAAATTCAGAAATTGTTTTATCCACTGCCAAAAAGGCCAGCACATCACATAACATTACCCTGGGACACAGAGCACAAATGACTAAATGTTCAGCATACAATTCTTGGAACCCAGTTTCATTTTTCAGACAAAAATGCAAGTTATTAAAACTGATGACAAGACAAACAAAATAAGATGACACAGGGAAAGGCTGCAGCCATGAAAATCAGTTGGTGCCCACTACTCTACCTCAAAATCCTTTTAATATTCCAAAACTTCTATGTAAGATTAAGTACAGGTAAGAGAGAAATAAAATCTCTAAGTGTGAACTGAAAGCTCAGCAGTACATACGGAGCTTTTTAAAGTATGAGGTTACCCACATGCGGTTCTAAAATATCTACTTCAAAAAGCAGCAGCATTTTGTGTCAAAG
Task1_train_22886
A variant found in Chromosome 16 affects AP1G1 (adaptor related protein complex 1 subunit gamma 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant
AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAA
AAAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACTGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAA
Task1_train_22887
The gene AP1G1 (adaptor related protein complex 1 subunit gamma 1) on Chromosome 16 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Usmani-Riazuddin syndrome, autosomal dominant
AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCGGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAAC
AAAAAAAAAAAAAAAATTAGCTGGGTGTGGTGCCATGCACCTGCAGTCCCAGTGACTCGAGAGGCTGAGGTAGGAGAACTTGAGCCCAGTAGGTTGAGGTGACAGTGAGCCATCACAGAGCCACAGCATGGGCCATAGAGCAAGACCCTGCCTCTAAAAACAACAAAAAAAGAATATGCTCTTAAAGAACTTCCTTGGGAATATGTAAATGTACTGCTTCCAAAATGTTAATAATGCTTATCGCTGAGGAATTAAGAGTCTTCTCCCTCACTAGACTTTTTTATAGCCCAATTTCTAATATATCAGATTTCTGTAAATCTAACCTAATACTTAAAATCAATCAACCGATCAACAAGAACACGTAGGCATCTATTTGCTTTATACTATGACACACAGTATATGGATAACCACCTGGATCAATTTTTGATGTGGTAAAGCTTATAACTGAAACATCAGAGCCTCAGGGTTTCATTCCACTCCTAACACTCTACGAATGAAATATGAAATATATTTCAAAGAACATATTATATTTTTAGAAACTATTCATGTGAAAGAGAAGAATGCTATTATGACACTAATTCTGTCCCAAACCAAATATATGACTATATTGATGACCCAGCAGTTGCTTCTGCCTGGCTCCTTTTCTTTTGATCCAGTCCCCTTTCCTCTGATACTAACACATCAATTTTTCTTTGGGAAATTAATGGACTCCCACTCTTGATCATGTATTTCTAAAGATGTTGACCCCACTCCAAACCCCAAGATGACCATAAAACCCAAGTCAGTCTGATAAGATTAAATCCCAGTACTTTTTTGTTTTAACTTGGGGGCAGGAGATCTCCTTCCACTGAAATTACTGACCTAAACAGTAAATAAGCTGATGACTATCTTTCCTGATAGTGTTGCACATTCTTTCTTTCAGTTGGGCAGTCTGTTCCTTAGAGAGACTATTTAGCATATAATACAATTCTTAAATTATTAAAATAAAATTTAATAGCACTAATATGAAATAAAAAAAACCCACTATTTCCTTTTCCATGACTAAATCCCACTTATGACAATATAAACATGCAAAGAAGAAAGTACTTATCATTGAGACTATCATTCTCAAAGCCCAGAATGGACATCTTAGATAGTAACCATTTGTGCATGGGAGAGAATCAGCTGCCAGATCTGCTCTAGTTACAGCAATCAAGGCACAAAGTAACTAGAACAAAATAGACGCCACCAATTGGCAACCACCTAATTTCCTTAACTGAAAAACATATTGTGAACTTCTCCACACAACGCTGTGCCCAGATAAAGCAATTAAGAAGACATTTAGCAAGCTTTTTTTTTTAAAAAAAAAAGAAATAGGATCTTACTCTATTGCCCAGGCTGGAGTACAGTGGTGCAATCGTAGCTCAATGAGGCCTCAAAACTCCTGGGGCACAAGCAATCCTCTTGACTTAGCTTCCTGAGTAGCTGGGACTAAAGGCATGCTCTACCACACCATGCTTTTTTTTTTTTTTAAGAGCAGGGTCTCACTATGTTGCCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATTCTCCCACTTCAGTGTCCCAAGTAGCTGGGATTACAGGCACAAGCCACCATGCCCAGCAAGAAACATTTTCTTAAATATTCATTATAGTCCAGGTACTCTGGCAGAACCACCACATAATCCTGGTCAATCTTTAAGCAAGCTAGCTGCCACCATCAAAACATTCTCTCATCCGTATAATGAGACTCCCAGTGGAAAGGATAATTGATAGCAATATCATGCCTTTCCAGGTCTGTGGCTTGCTCTCTCAATCTTACCCTCAGTTCCACAATGATCAGACTACAAGGCTATCAAAAGTACCTCCCCACCAGAAAAAGATGGACAATCCCTGAGCAACAATGTCAAAGAATACCCTTGCTACATGTAGTCTCAGCCCAGCCTACCTGTCCAAAGTGAGCAGGGTAGCCCAGCATGTGCATATACAGTAATTTTGCCACATTCCGACATCGGTATGTATTGTCTTCTTCTCTAAAAGATGACCAGATTGCAGCACATTCTTTCTGGATCATTTCTCGTTCTTCAGCTTGGGTTCGGGCTGTCCGGATGGTCCGGATCAGCTCCCGCAATCTGATGGGGGCTGGCATCCTCTGGATATGGAAAGACATTAAATAGAGATGTTCACATTTTTTACTACCAAAGCTATTCACACAACTTCCCATTTAAATTTTTGACTAGTTTTTAAGAATTCAAGACTTGCCAAATCCAGCTTAGCGAAGCTAAACAAAGCGTGCTAAGCTTCCGCAAAGCTATTACATACAGACCTCTCAACTCTGTACATTTCTGGAAAGGCTACAAACAAATATGGTTAAGTATTAAATTAAGCAAAATAAAACAAAGAATACACTAAATATGTAAAGTCTATCACTAATATCAAAATATCTCAGAAACTAATACAACTCAAATCTTTACTCAATCCTTAAAGTAATAAGGAAAGGCCTATGCCTAACCTTAGAAAAGATAGATATTATCTGTTCAACTGCTGTTAAACATAACATAGCTCAACAAAAATAAATATGGTCACAATCATAGCTCAACTCAACAAAATATGAGAGATTAAGAGAGAAGACCAATTGTCAGATTAAAACACATTCAACAAACTGTAACCATCCCAGTACACTGTGTGTATACTTTGAAAATGTGATGAGAAAAAAATAAACTAACCTCAGAAAATAAGGCTATTAGTGTCATGAATATCTTTTAAAAGTAAAAAAAAAAAAACGTTAATAAGGGACATATAACAGCCTAAATAATTGTTAACAAACAGAAAAAACAGAACGTGCACTACCTAATTTCAAGAATTACTACAAAGCTATAGTAATCAGGGAAATGTGGAACTAACTGAATGTAAGAATAGACTGAAGCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGCCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTTCAGTGAGCCAAGATTGCACCATTGCCCTCTAGCCTGAGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAGAATAGAAACAAAACTGAAAGTTTAGGAATAAACCCACACAAATATACACAAGTGATTTTTAACAAAGAGGCCAAAGTTATTCAATAGGAGCAAGATAGTCTTTCAATGAATGGTGCTGGCAACTATTTCTCTCCATGGGGGAAAAAAATTAACCTCAATCCTAACCACACACAATACACAAAAATTAACTAAAAATGGATCACAAACCTAAAAGTCAAAGCTAAAACTAAAAATCTTCCAGAAGAAAACACAGAGGAAAATCTTTGCAAACAGGTTAAACAGAGAGACTTCACACACAACCACAAAGTATAAAAGAAAAACTTAATAACTGTACCCTATCAAAGTTTAAAATTTTTGCTCTCCAAAGGACATCATTATGAAAATAGGACACACCAGCTGGGCACAGTGGCTCACGCCTTTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGAAGTTCGAAACCAGCCTGGCCAACATTGCAAAACCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGGCTCAGCTACTTGGGATACTGAGGGAGGAGGATTGCTTGAGCCTGGGAGGCAAGACTGCAGTGAGCCAAGATCACACCACTGCAATCCAGCCTGGGCAACAGAGCAAGACTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAACAAAAACAAAAAATCCTCACAGAACTGTAAAACAATAAACCAGAAGAGTCAATTTTACCATATGTTAACTTTAAAGAGTTTATTTTAAAGTAAACAAAAAAGCCCTTGAACTAAACAATTGAGACCTATTTGATCAGTTATAGAATATATACCTGAGAAAATTACTAGTTATTCTAAC
Task1_train_22888
A genomic change on Chromosome 16 affects DHODH (dihydroorotate dehydrogenase (quinone)). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Miller syndrome
ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGA
ACCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGTGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGA
Task1_train_22889
This sequence variant lies in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Miller syndrome
CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGACCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
Task1_train_22890
This variant lies on Chromosome 16 and affects the gene DHODH (dihydroorotate dehydrogenase (quinone)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Miller syndrome
CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
CCAGGCTGGTCTTGAACTCCTGACCTCAATTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTGCTGCGCCCGGCTTCTAATTGGGTTCTGATCCCCTCCTCCAGTCCCCACCCTGGAAAGTAGCTACACTCATCTCATTTGCTGATGATGCGAGAGTGTGATTGGGGTTGGGAAGGTGGTGAGCAGTACAATAGATGTTGTTTGATCCTCTCTGGCCTGACAACACATTTTGTGAGCTACTTGGTGTTCTAATTCTTCCCCCAACTCTCAGATCAAAAGTACAGCCTGTACCATTGATGTACCACTCCCCGTGCAGATAAGATAGTAAACTTAGAAGAAGTCAAGTAGAGACAACCCGTTTCTTTTACACATAGTGTGTTTCTGAAAATGTATTTTTTCTGGAGGTCCAAAATGCAAGTCCATTGATAGTCCTGTGGATTTTTAAGTAAGCTGACCTAATTGCTTACATGTAAACTGAGACCCTCTTGAGAGTAAAAAGGGGCAGGTGTTAACAATGATGCCCAGGCTAGGGGAGTAATCAGGTTGTCCAGGGAGCACCTAAGATACAGGGTACCCTCAGTTATTATATGAGGGAGAGTCCCTTTCCTCAGAGAACTAAAATTATAAGTTAGAAAACAATTACACCTCTACATTTTAGGCATGATAATTGAAAACATTTGGCCGGGCATGGTGGCTCACGCCTGTAATCCTAACACTCTGGAAGGCCAAGGCAAGCGGATCATTTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCTTCTCTACTAAAAATACAAAAATTAGGCCGGTTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCATGAGGTCTGGAGATGGAGACCATCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCACATGCGTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAATTCAGGGGACGGAGGTTGCAGTGAGCCAAGATTGTGCCACCACATTCCAGCCTGGGCAACAGTGAGACTCCATCTCAAAAAAAAAAACAAAAAACATTTTCCAGTATATATATATGTGTATATGTATATGTGTATATATATATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGCCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTG
Task1_train_22891
Here is a mutation in DHODH (dihydroorotate dehydrogenase (quinone)) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Miller syndrome
TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGCGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTGGGAAGCCCCTCCGGGATTTATCAACTCAAACCATTCGGGAGATGTATGCACTCACCCAAGGCAAGGTTTCCCGTGTTTGTGTCTTCAGATCTGCGTGTGGCTTGGGCTCCTGGGTCGTGATGGGAATCATCATTCCCTAATCTGTCTTGATTGTGGGGGACTCTGGGGCTGAAGCCACATCCTTCTTTATGGTGTCGCCATGTGCTTCTCTGTAGGCCGAGTTCCCATAATTGGGGTTGGTGGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCTGTACACGGCCCTCACCTTCTGGGGGCCACCCGTTGTGGGCAAAGTCAAGCGGGAACTGGAGGCCCTTCTGAAGTGAGTGAGGTCATGTGTGGCTTGAAACAGAAGTTAGGCAGAGGTTCATTTAGATCACTCAAGTCAACGAGATACTGTTGATCTGTTTCTTATTCATTCAAAAAGGAGTTGAGGGGTACACTCTGAAGGGGAGAGAAATTCTGGGTTACTCTTTTGATGAAGGACAAACAATGCCAAGGAGAACTGAGGATTAACCTCCAAGGCAATGGTGTTTCTAAGGTGGAGTTGTCCATTTGCTCAAGGGAGGGGAGCCTGAGGAATCCCATCAGCATTCCCATTAATTAAGCAACACTGGTTCAATGTTGGGAGCTGTCAATACTTAAAAGCAATTTCCTTCCTGCTCTGTTCCTACCTGGGTAGAAATATCCCTAGGTCTCTGGGTGAAGAGTGTAGAGGAAACCAGATGTGCCTGGGCCGGGATGATGCGTTTCTGGGTGAACGTGGGCTTCCTGTAAGAGCAGGGCCTGTTCTCCACTGTTTGCTGAAATTGCTTTGTTTGCTCTTTTTCCAGAGAGCAGGGCTTTGGCGGAGTCACAGATGCCATTGGAGCAGATCATCGGAGGTGAGGACAGCGTCTGACGGGAAGCCTGATCTGGAACCTTCCCAAGGACTCAGGCAAGCCTTTGTGGCTGGATCATGAGAGGAGGGACTCCATCTTGAGCCATGTCCCCCAGCCATGGCATGGCTGCACTGTAAACGCCAATCGGGGGGTCACCAGGATCAACCGCAGGCTTTCTTCAGTCCCTTGGTCAGACCATAAACTGCATTTTTGATTCTTTGTGGATTCAAACCCTAGGATC
TATATATATATATATATGTGTATATATATATATATTTTTTTTTTTTTTCTTTTTTTTGAGACAGAGTCTTGCTCTGCTCCTTAGGCTGGAGTGCAGTGGCGCGATCACGGTTCATTGGAGCCTCAATCCTACTTCAGCCTCCCGAGCAGCTAGGACTACAGGTGTGCACCACTGCTCCCGGCTGAGTTTTCAATTATAGAGATAGGGTTTCACCATGTTGCCCAGACTGGTCTTGAATTCCTGGGCTCAAGCAATCCTCTGCCCTTGACCACCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGCACCTGGCCTGTTTTTCAGTATTTTATACATGTTCTTTCATTTTGTTTTTTCTTCGCAACTGTACATCCAGTCAACCGAGCCAAGGCCAACAAGCATTCCTTGAGGTGAGAGTTGCGGGCCTGATGTGCCTACTGAGTTCTCTCTGTTCTCAGTTTTATTCAATTTATGAGGCCCATCTTTTGCCCCACAAGTATTTGCAGTAATTTGTCCATTTTCCATGAAAATTTTAAAAATAAAAAGGGCAAAATGCAGCAAAACATCCTCGTAGCTGCCCAGACTTTGCTAGACAAAGCCAGTGAGTGGTTTTGGTCAGCAGGCGGGCCCAGGCCGCAGTTGAGCACCTGTCAGCCGGTGTCGGGCAGGTCAGGTTTGGAGGGAAGGCCTGCGCGGCTGTCCACAGGTGGTTTGGTCAAGGGCAGCCTCAGAAGGTGGCACAGGAAAGGGTGTGCGGGGTGCAGGCCTGACCAGCGATGTTTGCAGATGGACTGCCTCTGGGGGTCAACTTGGGGAAGAACAAGACCTCAGTGGACGCCGCGGAGGACTACGCAGAAGGGGTGCGCGTACTGGGCCCCCTGGCCGACTACCTGGTGGTGAATGTGTCCAGCCCCAACACTGCCGGGCTGCGGAGCCTTCAGGGAAAGGCCGAGCTGCGCCGCCTGCTGACCAAGGTGGGCAGCTGCACCCCTCTCCAGGCCCTGTCCCACCAGCCTGTCCCACCTGCTCCCCTTCATTCTCCAGGGCGAACCTTCAGCATCACCCTCAGAAGCTGTCCTTAGCACCTAGACCAGTAGGACCCCTGGCTATACCTTCCCAGAGTCCCCTCTGATCCCCTCTCATGACACTGATTATATGCGACGGTGACAAATTATCTGTCCCTGCTGCTATAAATCACGGGGTCTGTAAGAGCAGACACCACGTCTCTCTCATTTGTCACTCTGACCCTAGCGCCCAGAGCTCTGAGTGAACTGAAGGACTTCATCACCCAGTACATGTGGTAATATTTCCTGGTTATCTTTTAGGAATAAAAGTCTAAAAAACGTTGGACACCGTGGCTCATGCCTGTAATACCAGCACTATGGGAGGCCAAGGCAGGTGGATCACTTATAACCCAGGAATTTGAGACCAGCCTGGGCAAAAGAGCAAGACCCTGTCTCTACAAAAATTTAAAAATTAGCCAGGCACAGTGGCTCAAGCCTATAGCCCCAGCTACTTGGAGGCCGAGGCAGGCAGATCACTTGAGCTCAGGAGCTGACCAGCCTGGGCAACTTGGCAAAACCCCATCTTACAAGAAATACAGAAATTAGCTGGGCATGGTGGTGCACACCTGTAGTCCCTGATACTCTGGAGGCTGAAGTGGAAGGATCGCCTGAGCCCAGGGAGGTGCAGGCTACAGTGAGCCGTGATCATGCTACTACACTCCAGTGTGGGTGACAGAGTGCGACCTTGTCTCAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGTCTAAAACACCCTTGAGCTATTAGCCAATGTCCACGGGATCCCTTGGCCTAAAAGAATGGAATCGGATCCATCTCGACTGTACTCCTCACGTCTGAGGGCTGGCTTTCCTGAAAAGAAATTGTTTCTGCTTTAGTTTGATCGCTATTGTGGAAACCCACTGACCTGCAGCGTAGGTCACAGCTGCACTGCAGGGCTGTGGTCTGCGGGGTCCCCAGCTCTGGCCGTGTGTCGCCCTAGGTGCTGCAGGAGAGGGATGGCTTGTGGAGAGTGCACAGGCCGGCAGTCCTGGTGAAGATCGCTCCTGACCTCACCAGCCAGGATAAGGAGGACATTGCCAGTGTGGTCAAAGAGGTTTGAGTCGGGGCCTGGGCCCAGGGTGTGCCTCCCATGGTCTGCAGAGGCCGTTTGGCCAGCTGGGCTAGCCCAGAATGGCGTTCTTTGTGATTTCCTCTCCTTGGTATTCAAGGCTGGTTTGGTGTGTGTCATGGTGTAACTCACCCTGTGGTCAAAAGCGAATGTTGGAATAAGTGCTTGAAGGAGTTTTTCTAATGCCTCTTCCTCTCTTTTGTCAACTGCATCCAGCAAGTTTAAGGCTTGAGCTTGGCTCCTTGGCCAGTCTTGACTGGGACTGAAAATTCTTTCTCTCACTCCTCTCTCCAGCCTGTCTGGACAGCGGGTCTCTGTGGCATAGGAGAGTAGTGGAAACAGACTGAGCCCGGCCATCGTGGGTTCAAATCCTGGTTCCACCACTTACTACCTGGGGGCCTCAGACAAGACACTGTAATTGGGTTGTTGTAAGGACTGGACCCTGTCCTAGGGGAATGTTGTGGGTGGTCAGCGTGTGATGGCTGCTGTCGTCATGTTATGGCTCATTCTAAAACTTGTTGAGGAAAAGATGAGTAGTGAGGTCTGGTGTAGCTCTTGCTTTGGGGGCTGTAGGTGTGGGTACCTGGCCCGGCTGCTGCCTTCGACCTCCAGAGAAGCGCCTCTGGGTCCTTCGGTGCTATGACTCATGGCTTTTTCTCTATCTCGCACTGCAGTTGGGCATCGATGGGCTGATTGTTACGAACACCACCGTGAGTCGCCCTGCGGGCCTCCAGGGTGCCCTGCGCTCTGAAACAGGAGGGCTGAGTGGGAAGCCCCTCCGGGATTTATCAACTCAAACCATTCGGGAGATGTATGCACTCACCCAAGGCAAGGTTTCCCGTGTTTGTGTCTTCAGATCTGCGTGTGGCTTGGGCTCCTGGGTCGTGATGGGAATCATCATTCCCTAATCTGTCTTGATTGTGGGGGACTCTGGGGCTGAAGCCACATCCTTCTTTATGGTGTCGCCATGTGCTTCTCTGTAGGCCGAGTTCCCATAATTGGGGTTGGTGGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGCAGGGGCCTCCCTGGTGCAGCTGTACACGGCCCTCACCTTCTGGGGGCCACCCGTTGTGGGCAAAGTCAAGCGGGAACTGGAGGCCCTTCTGAAGTGAGTGAGGTCATGTGTGGCTTGAAACAGAAGTTAGGCAGAGGTTCATTTAGATCACTCAAGTCAACGAGATACTGTTGATCTGTTTCTTATTCATTCAAAAAGGAGTTGAGGGGTACACTCTGAAGGGGAGAGAAATTCTGGGTTACTCTTTTGATGAAGGACAAACAATGCCAAGGAGAACTGAGGATTAACCTCCAAGGCAATGGTGTTTCTAAGGTGGAGTTGTCCATTTGCTCAAGGGAGGGGAGCCTGAGGAATCCCATCAGCATTCCCATTAATTAAGCAACACTGGTTCAATGTTGGGAGCTGTCAATACTTAAAAGCAATTTCCTTCCTGCTCTGTTCCTACCTGGGTAGAAATATCCCTAGGTCTCTGGGTGAAGAGTGTAGAGGAAACCAGATGTGCCTGGGCCGGGATGATGCGTTTCTGGGTGAACGTGGGCTTCCTGTAAGAGCAGGGCCTGTTCTCCACTGTTTGCTGAAATTGCTTTGTTTGCTCTTTTTCCAGAGAGCAGGGCTTTGGCGGAGTCACAGATGCCATTGGAGCAGATCATCGGAGGTGAGGACAGCGTCTGACGGGAAGCCTGATCTGGAACCTTCCCAAGGACTCAGGCAAGCCTTTGTGGCTGGATCATGAGAGGAGGGACTCCATCTTGAGCCATGTCCCCCAGCCATGGCATGGCTGCACTGTAAACGCCAATCGGGGGGTCACCAGGATCAACCGCAGGCTTTCTTCAGTCCCTTGGTCAGACCATAAACTGCATTTTTGATTCTTTGTGGATTCAAACCCTAGGATC
Task1_train_22892
This variant affects gene RFWD3 (ring finger and WD repeat domain 3) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
Pathogenic; Fanconi anemia, complementation group W
TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAATCAAGTTATCTACAATAGCTTTTTGCTTAAGAGAAAAACAATTCTGTGAGTTGTCTGTTTTAGTAAAATCAGTCTCCTGCCAGACCTCTGCTAGGGGATTTCTCTCTCAAGAATTCTCAGTAAAAGGTTTTTCCCTTCCCCCAGTGAGAACCTCATTAGCCCCTGGGACTGCACATTTTTATAAAGTGAAAGCATGCTATTACAGAAAGGGAAACATGTATCTGAAATTCTGCTGGGAGGCAAACAAAAGCAAGATAACAAAATAGGACCCCCAGGCTTTGTACACCAGTCACAACAAATCACAGTCTTGGAGACAGCCGAGCTGTGGGATGATGAAGAGCCAAAGGGTCTGAAGTGGTACTGGGATGTTTCTCAGCTCAAACAAAACTTAAAAACATGAGTAGACCCACCCACAACTAGCAGAAGTGTGAGCATTTAATGACTAACTCTGACTATACATCTGCCTGACTGTTACAAATGTGTTTAATACAGTTGTTACCTCAGCATCTGTTTTTAGGGCTAGCATAAATTATTTGAAACCCAGATGTACCCTGTCAACTTTGGCCTAGTTAAAACATCCCTTCCCTGAGCAGAGGTTTGAAATATAGCCCACTTGTCCCTCCCCTCCACCCCTACCCCACCCCTAAGGGAGCAGGCCTGTCCTGGATGGCTCCCCCTTCTTCCCATTGGCCCCTGAAGCATGCTGCCCTCTTCTCTGTGGGATCTGTCAAGTAAGCTGATTCCGTTATTTCCTGTGTTTTGTGCACTGCCTCCTTTGTGTCTCACCTGACCAACACACCTGAACCTAACTTGTTTCCTAGTCAGGGCTCTTCTAGAGAGTCACTATCTCAAGGGAAATGAACTAGACACAGTTCAGACAAGAGCCACAAGGGTACCTGCCAGTACAAACAAGTTTCCTGTGAGAGGGACATCTGGTCATGGGTCAGGCAGGCATTAGGCCATCTGCCAGGACAGAGGAGTATCCTGTGAAAGGCAAACTATGAACACCCACAACGAACTCCCTAGTGTTTGGCAGGACAGGGCTAGAGTTTATAGCCACTCTCCTGACAGAGACCTCAAGACCAAATTAGAAAGAAAAAACCTAGAACACTGACCATCAGTACAGTTTACCAGGAATTTAGATTCATGCCGCTTAGCCTAGAAAGAACCTGTGAATGAAGCACAGTCTGCTGTTATGCGTTCCACCTCTGATTCCAGAGGCAGAGATGTTCAGCTGGCTGGGCACACACAGCCACTGTTGTCCATTTCAGTATGCCAGCCGGGCTACTACATGGCTGCCCTAATCTGGGCCTTTCTCTCAGGGGAAGTAAGAGGCAGGCAGAAGATACGAAAGTGATCTCAAGGTGGCTCAATGACCTAGAGCTGGCCCCCTTGTTCCACTACTGTTCTAAACTGTAGGGGCTCCTAAGTGGCTAATTCACTTCCAGGAGTACCTGGCAGAATATGCTCCAGTCCTCACACGTAAGGAGCAGGGAGGCAGGCTCTGTGGGGGAGCTTGGAGCCACCATACTCCCTGTAGTAGCAAGAGCTACAACACACCTCGTTAGCCTGTGAGCGGTACCACAGCCACCCAAAGGGTAGGATCAAACCCTCCTTCCCTTTTCTCTACCACTGTGCTCCCAAATAAGCTATGGGAGACCCCAGCACTACTTACCAGGCCTGTAGGTCACAAGACAGTGCCGGGAGCTGTTCTCTGTCTGAAAGTCTATGCAGCCCCCTGGCTCCAAGGGCAGCACATGAGGCCAATGAGAAAAGTCCATTTTCTGTTCCCAGAATGAAGCATCCTCCAAGGTTCCAGCCAGCACCCCACCATATGGAAATGCAGCTGAGGCAGCTCTGGGCATGTATGACAGGGAGACCAGTGGGCATCTGAAAGGAAAGTAAGGAAACTGTATCTCACACTCCAAAACTCGGACGGCTCCAGACCCCACTACCAGACCTCAAGCACATTCCCACCTCTGCAGAGGAGGTTAAACGCCTTTAGTCACTATCCTCTGATATCTGATAAAAATTATCAACCCTCTCTGTAGAAACAAAAGGACATACATATAATATTCTGCAACTAATTTCAGGTGAGATACCAGATGCTCTAAAAGAAAAGGAAAAAAAGAACTAGGAAATTTAAGGGATACAAGATCACAATTACTATGAAGCTTGACTGATGTGAAGCTTCTGGAAATGGGTTTAGCCACATAAGAAAAGTCAGAAAAGAAACAAAGCTTATATACATAACAAAATAAAGATCCCAAGTTGTAGTTGACAGACCCCACAATTAAAATACAGCTAAAAGCAGCTACATTTTAATTCAGAAACAGGACTGTTTTAGGTTTTCTAAATTTCCTTCTGCAAGCATATGACCAGGACTATGCGCCAAGAATTCTCTCAGAAATATCATCCTTCCGACTGTGTTCCTATCAACTCATTTCTGCTATGAAGTCGTTCGTGCCAAAGTTGCCAAAGTGTCTACTTTGCCTGTTTTATTTTCCCTGTCACAATAAAGGTAATCAAAGTAAACAAAAATAAAAATGAACATTACATACAAATATTCTTTCCTTGCTATTTTAAAACTTGCTGTGTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAAGCCGAGGTGGGAGAATCACTTGAGGTCACCGGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGTCAGGTGTGGTGGCACACGCGTATAGTCCCAGCTACTCGGGAGGTGGAGGATGCAGTGATCCAAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACCATCTTAAAAAAACAAAACAAAACAAAAAAACCACTACCACCAACAAAAAAAAAAAACCTTGCCATATTTTACTGTCTACTCTATTTGGGCCTAGGTTTCAGTAAAGAATTATTACTTTAGTGGTATCTTTATGTTTGGCTCTCCTTGCTCTTTTTAATATATCCAGTTGGAAACATAAATTATCTGTTAAGATACTTCAGATTTTGGCCAGGTCACAGACCCTACTCCCTTTTTGATAACTTTATACCTACAGGGCAGCTCAACACATTCTAAGACAGAGTGGTGCTGGTGGCCATCCATCCTCAGAACTTGGGCTCACTTTATAAACTTCTCAATCTCATAACTGGATTAAATGATAAATAATAATAATATGGTATCTTCAAACAAGTTGGTTTAGCTTTGGATTAGGGAAGTTTTAAATCACTTTTGATTAGGTTACCCTTAACTGATCTCTTCCTATGTGCTAGACATGTGGCTATTTTTTTTTTTCTTGAGATGGCGTCTCACTCTGTTGCCCAGACTGGAGTGCAACGGCGCAATCTCGGCTCACCGCAACCTCCGCCTCCGAGGCTCAATAGATTCTTCTGCCTCGGCCTTCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCATGGCTAACATTTTTTTGTATTTTCAGTAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCCTGATCTGTCCGCCTCGTCTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCGACATGTGGCTATTAAAGCAAGTCTACATTGACCAGATTTTACAGATTAAGCTCACAGTGGGCCAAGAAAATACAACTAAGGTCACACAACTTCTAAGTAGTGGAGCTGGGTTCTGAATATAGATCTGACTCTATTTTGCCATGTTAGATGATTAC
TGTATGTACAGGCTGGCAGGAGCAGATTGGATTTCCAGTGTCATCCAGTCGGTAGGACATTTCCATCAGCACACTTCGTATGGTGGTGTGATTTTTATCTATGGGACAGAGAAATCAGTGCTGCACCATGGGGACGCTACACAAAAAATTAACCAAGTACCCAAACCTCACACGCTTACAACCTAGTTGGATGGAAAAGCCATAAATGCATTAAACCATCAAGAACAGTTACAAAACAAATGAAAGAACAATATCACAGCATCAATGAAATTTAGAACCGTAGGCTAGCATCAGTGAAATTTAGAACCATAGGCTAGGAATCAAGTTATCTACAATAGCTTTTTGCTTAAGAGAAAAACAATTCTGTGAGTTGTCTGTTTTAGTAAAATCAGTCTCCTGCCAGACCTCTGCTAGGGGATTTCTCTCTCAAGAATTCTCAGTAAAAGGTTTTTCCCTTCCCCCAGTGAGAACCTCATTAGCCCCTGGGACTGCACATTTTTATAAAGTGAAAGCATGCTATTACAGAAAGGGAAACATGTATCTGAAATTCTGCTGGGAGGCAAACAAAAGCAAGATAACAAAATAGGACCCCCAGGCTTTGTACACCAGTCACAACAAATCACAGTCTTGGAGACAGCCGAGCTGTGGGATGATGAAGAGCCAAAGGGTCTGAAGTGGTACTGGGATGTTTCTCAGCTCAAACAAAACTTAAAAACATGAGTAGACCCACCCACAACTAGCAGAAGTGTGAGCATTTAATGACTAACTCTGACTATACATCTGCCTGACTGTTACAAATGTGTTTAATACAGTTGTTACCTCAGCATCTGTTTTTAGGGCTAGCATAAATTATTTGAAACCCAGATGTACCCTGTCAACTTTGGCCTAGTTAAAACATCCCTTCCCTGAGCAGAGGTTTGAAATATAGCCCACTTGTCCCTCCCCTCCACCCCTACCCCACCCCTAAGGGAGCAGGCCTGTCCTGGATGGCTCCCCCTTCTTCCCATTGGCCCCTGAAGCATGCTGCCCTCTTCTCTGTGGGATCTGTCAAGTAAGCTGATTCCGTTATTTCCTGTGTTTTGTGCACTGCCTCCTTTGTGTCTCACCTGACCAACACACCTGAACCTAACTTGTTTCCTAGTCAGGGCTCTTCTAGAGAGTCACTATCTCAAGGGAAATGAACTAGACACAGTTCAGACAAGAGCCACAAGGGTACCTGCCAGTACAAACAAGTTTCCTGTGAGAGGGACATCTGGTCATGGGTCAGGCAGGCATTAGGCCATCTGCCAGGACAGAGGAGTATCCTGTGAAAGGCAAACTATGAACACCCACAACGAACTCCCTAGTGTTTGGCAGGACAGGGCTAGAGTTTATAGCCACTCTCCTGACAGAGACCTCAAGACCAAATTAGAAAGAAAAAACCTAGAACACTGACCATCAGTACAGTTTACCAGGAATTTAGATTCATGCCGCTTAGCCTAGAAAGAACCTGTGAATGAAGCACAGTCTGCTGTTATGCGTTCCACCTCTGATTCCAGAGGCAGAGATGTTCAGCTGGCTGGGCACACACAGCCACTGTTGTCCATTTCAGTATGCCAGCCGGGCTACTACATGGCTGCCCTAATCTGGGCCTTTCTCTCAGGGGAAGTAAGAGGCAGGCAGAAGATACGAAAGTGATCTCAAGGTGGCTCAATGACCTAGAGCTGGCCCCCTTGTTCCACTACTGTTCTAAACTGTAGGGGCTCCTAAGTGGCTAATTCACTTCCAGGAGTACCTGGCAGAATATGCTCCAGTCCTCACACGTAAGGAGCAGGGAGGCAGGCTCTGTGGGGGAGCTTGGAGCCACCATACTCCCTGTAGTAGCAAGAGCTACAACACACCTCGTTAGCCTGTGAGCGGTACCACAGCCACCCAAAGGGTAGGATCAAACCCTCCTTCCCTTTTCTCTACCACTGTGCTCCCAAATAAGCTATGGGAGACCCCAGCACTACTTACCAGGCCTGTAGGTCACAAGACAGTGCCGGGAGCTGTTCTCTGTCTGAAAGTCTTTGCAGCCCCCTGGCTCCAAGGGCAGCACATGAGGCCAATGAGAAAAGTCCATTTTCTGTTCCCAGAATGAAGCATCCTCCAAGGTTCCAGCCAGCACCCCACCATATGGAAATGCAGCTGAGGCAGCTCTGGGCATGTATGACAGGGAGACCAGTGGGCATCTGAAAGGAAAGTAAGGAAACTGTATCTCACACTCCAAAACTCGGACGGCTCCAGACCCCACTACCAGACCTCAAGCACATTCCCACCTCTGCAGAGGAGGTTAAACGCCTTTAGTCACTATCCTCTGATATCTGATAAAAATTATCAACCCTCTCTGTAGAAACAAAAGGACATACATATAATATTCTGCAACTAATTTCAGGTGAGATACCAGATGCTCTAAAAGAAAAGGAAAAAAAGAACTAGGAAATTTAAGGGATACAAGATCACAATTACTATGAAGCTTGACTGATGTGAAGCTTCTGGAAATGGGTTTAGCCACATAAGAAAAGTCAGAAAAGAAACAAAGCTTATATACATAACAAAATAAAGATCCCAAGTTGTAGTTGACAGACCCCACAATTAAAATACAGCTAAAAGCAGCTACATTTTAATTCAGAAACAGGACTGTTTTAGGTTTTCTAAATTTCCTTCTGCAAGCATATGACCAGGACTATGCGCCAAGAATTCTCTCAGAAATATCATCCTTCCGACTGTGTTCCTATCAACTCATTTCTGCTATGAAGTCGTTCGTGCCAAAGTTGCCAAAGTGTCTACTTTGCCTGTTTTATTTTCCCTGTCACAATAAAGGTAATCAAAGTAAACAAAAATAAAAATGAACATTACATACAAATATTCTTTCCTTGCTATTTTAAAACTTGCTGTGTTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTCGGGAAGCCGAGGTGGGAGAATCACTTGAGGTCACCGGTTTGAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAGTTAGTCAGGTGTGGTGGCACACGCGTATAGTCCCAGCTACTCGGGAGGTGGAGGATGCAGTGATCCAAGACTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACCATCTTAAAAAAACAAAACAAAACAAAAAAACCACTACCACCAACAAAAAAAAAAAACCTTGCCATATTTTACTGTCTACTCTATTTGGGCCTAGGTTTCAGTAAAGAATTATTACTTTAGTGGTATCTTTATGTTTGGCTCTCCTTGCTCTTTTTAATATATCCAGTTGGAAACATAAATTATCTGTTAAGATACTTCAGATTTTGGCCAGGTCACAGACCCTACTCCCTTTTTGATAACTTTATACCTACAGGGCAGCTCAACACATTCTAAGACAGAGTGGTGCTGGTGGCCATCCATCCTCAGAACTTGGGCTCACTTTATAAACTTCTCAATCTCATAACTGGATTAAATGATAAATAATAATAATATGGTATCTTCAAACAAGTTGGTTTAGCTTTGGATTAGGGAAGTTTTAAATCACTTTTGATTAGGTTACCCTTAACTGATCTCTTCCTATGTGCTAGACATGTGGCTATTTTTTTTTTTCTTGAGATGGCGTCTCACTCTGTTGCCCAGACTGGAGTGCAACGGCGCAATCTCGGCTCACCGCAACCTCCGCCTCCGAGGCTCAATAGATTCTTCTGCCTCGGCCTTCTGAGTAGCTGGGATTACAGGCGTGTGCCACCACGCATGGCTAACATTTTTTTGTATTTTCAGTAGAGACGGGGTTTTACCACGTTGGTCAGGCTGGTCTCGAATTCCTGACCTCCTGATCTGTCCGCCTCGTCTTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCACCCAGCGACATGTGGCTATTAAAGCAAGTCTACATTGACCAGATTTTACAGATTAAGCTCACAGTGGGCCAAGAAAATACAACTAAGGTCACACAACTTCTAAGTAGTGGAGCTGGGTTCTGAATATAGATCTGACTCTATTTTGCCATGTTAGATGATTAC
Task1_train_22893
Consider this mutation in MLKL (mixed lineage kinase domain like pseudokinase) on Chromosome 16. Is this a benign change or a disease-causing variant?
Pathogenic; Maturity onset diabetes mellitus in young
TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTGGTTTCATTTGTGGTTACCTATTTTTGGCAAGTGACACTGGTTTTCAATTTATGGTAGTAAGAGAAAGTGTCCTTTTTAAAAGCTTTATTTCAATTATTATTATTATTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGCCTGGAGTGCAGTGGTACGATATCAGTTCATTGAAACCTCCGCCTCCTGGGTTCAAGTGATTCTTGTCCCTCAAGCCTCCTGAGTAGCTGAGATTACAGGCCTGTGGCACCATGCTGGGCTAATTTCTGTATTTTTAGTAAAAACAGGGTTTCGCCACGTTGGCCAGGCTAGTCTCCAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTATGGGCGTGAGCCACTGGGCCAGGCCTTTATTCCGATTTTTAAAAAGTGAGTCAATGTAATGAAAAATGTTAAGTAAATAACACTGGTAGTAGTATAGTTAAAACCCTGCAGATGGTTTGTGAGTGACTAACCTTTGGGGACCCTTGGGACTAAGAATCCATAGATTCTGCAGGTGAGAATAGGTAGAGTTGCCAAATAAAACACAAGACACGGCCGGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAATTAGCCAGGCGTAGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAGAAGAAAAAAAAAGAAAAGAAAAAAACACAAGACACTCCATTAAATTTGAGTTTCTGATAAGCAATGAATATATAGATTCACGTACACGCATATATATATGTACAAGCATGCCCACAAATTGTATAGGACATAGTTGTACTAAAAATAAATGTTTATCCAAAATTTGAGACTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGAAAGCTGAGGCAGGAGGATTGCTTGAGCCCAGTAGTTCGAGACCAGCCTAGGCAGCATGGCAAAACCTTATCTCTACAAAAAATATATATAAAAAAAAAACTGGCTGAGTGTAGTGGTGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTAAGGTAGGAGAATCCCTTCAGCTCGGGAGGTTAAGTGATCTGTGATCATATCAGTGCACTCCAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAACATAAAATAAAATTTGATATTTTTGATATTTAGTATAAGTATATACCATGCAATGTTTAGGATGCACTTATACTAAAAAATGATTCATTACTTTCCTAACGTTCAAATTTAACTGGATATGTTCATTTTTATGCTAAATCTGTCCACTCCAAAATTAGGGCTCATCCAACTCTATAAGTGCAGTGTGGACATCAATTTCAACCGTCAGTTCTGGGAGCTGGTGTTCCCTGGGTTAAGCCTCTTTCCTCCCTCCTATCTGTAATCAGAGTAAATAGTAAAACAGTGTATGGGAGGGAGACTGTCTGGGGCGTCTGGCCTGTTCTCTCACCATCTCTGGGAGTATCAGGAGTGTGGACAGACCCATCCAACCCTTAGTGGCGCCTTTTCACCCCGTCTTACCGGTATAGGCCTCGGGCTGCCCCCAGGACTAGGACCATGCGCTTGCCAAGTGTGAGGTCTTTTTCCCTATCCAACAGCTCCCTCAGGGTCCCGAGTTCACAGTACTCCATGACAATGGAGAATTGAGGCGGAGTCACTGGTGGAAAGGAGCCAGACACTATGAGGACCCGCCCTACTTGAAGCTTCCCATGTCTGCAGCCCACCTCTCCCAGCCTCGGTACAGATACAGACTTGGCTCTGCTGAGTCCCATTTCTCCCCCAATCCTCAGCCCACAGTTTTGGTCCCCGGCCTCCTTGAATGGACCAAATATGCCCAGAATTCCCATCCTCTTCTCCATAATACTTGGCTTGTCGTAATTCTACCTTAAAAAAAAAATTGGCTGGGTGCGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAATGTGGGTGGAACACAAGGTCAGGAGTTTGAGATCAGCCTGGCCTACGTGGTGAAACCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCGTGTAATCCCATCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCTGCGTGGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGACACTACATCTCAAAAAAAAAAAAAAAATGTTCTGCCAGGTGTGGTGACTCACGCCTGTAATCCTGGCTCTTTGGGAGGCTGAGGCTGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTATGAAAAATGCAAAAATTAGCCAGGTGTGGTGGGACATGCCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTCGGAGGTGGAAGCTGCAGTAAGCATATTGTACCACCGCACTCCAGCCTGAGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCTTTTTCTTTTTCTTTTTTAACTTCTATCTCCCTTTCTTGGTATAATTCAAAATTTTCTTGAGCAGTTATTTGGCGAATGTCTTCCTCACTCAACTGGATTCCCAAGAAGGCAGGAAATGTGTCTGTCTTGTTCACATGGGTGCTCACAAGAAGCTTCGTACATCTGTGTGGGAGGAATGAGTAGGGCACACATGGCAGGGGCGGGTGAGGACTCAGACAAGAAGTCGACTTCCCCATTCATGGGCCTGAGCTGCAAAACTGACATGTGACTGAGCCAGGCACCTCAGCGGTCCCCAAGGAGAACAAACGTTGCTGAACATTTGTCTTTATTTTTTATTTTTTAATTTTTTTGAGACAGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCAGTTAATTTTTATATTTTTAGTAGAGACAGGGTTTTATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTGCCTGGCCTACGTTTCCCTTTAGATTGGGATTCCACACTCTGAAATCAAGTTGGCCTGAGGCTGTGGAGCAACTTCCAAAGGGGATAAGACAGGAGTTGCTCTGTCCAATCTCTAGGCAAGACGGCAGCAAAACATGACCAGCAGGAGGGGTCATTCCATGAGAGAAAATGCAGTCACATTGGGAAAAAAAGAAAAAAAAAAAAAAAAAAAGAGCCTGTCACATAAGGCTCTTGGTAGAGGGGTAAAGTAATGGTTTTTTTTTTTGTTTGTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAGAGGCATGTGCCACCACATCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGG
TTCTCCTGCCTCAGCCTTACGAGTAGCTGGGACTATAGGTGCGTGCCATCACGCCCAGCTAATTTTTGTATTTTTAGGAGAGACGAGGTTTCACCGTGTTGGGCAGGATGCTCTTGATCTCTTTACCTTGTGATCTGTCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCTACTGCGCCCAGCCTTGGTGTTGGGTATCCTTAACTCTGCCAATATCTCCAATATCTCCATTGTACAAAGAGAATGTGGGTTGGATCACAGAGCTTCTGGCAGGCAGCCTCATCCAGCCAGAATTTAATTACATTGTTTTGGTTTCATTTGTGGTTACCTATTTTTGGCAAGTGACACTGGTTTTCAATTTATGGTAGTAAGAGAAAGTGTCCTTTTTAAAAGCTTTATTTCAATTATTATTATTATTTTTTGAGATGGAGTCTTGCTTTGTCGCCCAGCCTGGAGTGCAGTGGTACGATATCAGTTCATTGAAACCTCCGCCTCCTGGGTTCAAGTGATTCTTGTCCCTCAAGCCTCCTGAGTAGCTGAGATTACAGGCCTGTGGCACCATGCTGGGCTAATTTCTGTATTTTTAGTAAAAACAGGGTTTCGCCACGTTGGCCAGGCTAGTCTCCAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCTCAAAGTGCTGGGATTATGGGCGTGAGCCACTGGGCCAGGCCTTTATTCCGATTTTTAAAAAGTGAGTCAATGTAATGAAAAATGTTAAGTAAATAACACTGGTAGTAGTATAGTTAAAACCCTGCAGATGGTTTGTGAGTGACTAACCTTTGGGGACCCTTGGGACTAAGAATCCATAGATTCTGCAGGTGAGAATAGGTAGAGTTGCCAAATAAAACACAAGACACGGCCGGGCGCGGTGGCTCACACTTGTAATCCCAGCACTTTGGGAGGCCGAGACAGGTGGATCATGAGGTCAGGAGATCGATACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAATAAAAATACAAAAAAATTAGCCAGGCGTAGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAAGAAGAAAAAAAAAGAAAAGAAAAAAACACAAGACACTCCATTAAATTTGAGTTTCTGATAAGCAATGAATATATAGATTCACGTACACGCATATATATATGTACAAGCATGCCCACAAATTGTATAGGACATAGTTGTACTAAAAATAAATGTTTATCCAAAATTTGAGACTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTGGAAAGCTGAGGCAGGAGGATTGCTTGAGCCCAGTAGTTCGAGACCAGCCTAGGCAGCATGGCAAAACCTTATCTCTACAAAAAATATATATAAAAAAAAAACTGGCTGAGTGTAGTGGTGTGCGCCTGTAGTCCCAGCTTCTCAGGAGGCTAAGGTAGGAGAATCCCTTCAGCTCGGGAGGTTAAGTGATCTGTGATCATATCAGTGCACTCCAGTCTGGGCAAGAGAGTGAGACTCTGTCTCAAAACATAAAATAAAATTTGATATTTTTGATATTTAGTATAAGTATATACCATGCAATGTTTAGGATGCACTTATACTAAAAAATGATTCATTACTTTCCTAACGTTCAAATTTAACTGGATATGTTCATTTTTATGCTAAATCTGTCCACTCCAAAATTAGGGCTCATCCAACTCTATAAGTGCAGTGTGGACATCAATTTCAACCGTCAGTTCTGGGAGCTGGTGTTCCCTGGGTTAAGCCTCTTTCCTCCCTCCTATCTGTAATCAGAGTAAATAGTAAAACAGTGTATGGGAGGGAGACTGTCTGGGGCGTCTGGCCTGTTCTCTCACCATCTCTGGGAGTATCAGGAGTGTGGACAGACCCATCCAACCCTTAGTGGCGCCTTTTCACCCCGTCTTACCGGTATAGGTCTCGGGCTGCCCCCAGGACTAGGACCATGCGCTTGCCAAGTGTGAGGTCTTTTTCCCTATCCAACAGCTCCCTCAGGGTCCCGAGTTCACAGTACTCCATGACAATGGAGAATTGAGGCGGAGTCACTGGTGGAAAGGAGCCAGACACTATGAGGACCCGCCCTACTTGAAGCTTCCCATGTCTGCAGCCCACCTCTCCCAGCCTCGGTACAGATACAGACTTGGCTCTGCTGAGTCCCATTTCTCCCCCAATCCTCAGCCCACAGTTTTGGTCCCCGGCCTCCTTGAATGGACCAAATATGCCCAGAATTCCCATCCTCTTCTCCATAATACTTGGCTTGTCGTAATTCTACCTTAAAAAAAAAATTGGCTGGGTGCGTTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAATGTGGGTGGAACACAAGGTCAGGAGTTTGAGATCAGCCTGGCCTACGTGGTGAAACCATGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGTGCGTGTAATCCCATCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAAGCTGCGTGGCAGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGTGACACTACATCTCAAAAAAAAAAAAAAAATGTTCTGCCAGGTGTGGTGACTCACGCCTGTAATCCTGGCTCTTTGGGAGGCTGAGGCTGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCTCGTCTCTATGAAAAATGCAAAAATTAGCCAGGTGTGGTGGGACATGCCTGTAGTCCCAGCTATTAGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTCGGAGGTGGAAGCTGCAGTAAGCATATTGTACCACCGCACTCCAGCCTGAGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAATTCTTTTTCTTTTTCTTTTTTAACTTCTATCTCCCTTTCTTGGTATAATTCAAAATTTTCTTGAGCAGTTATTTGGCGAATGTCTTCCTCACTCAACTGGATTCCCAAGAAGGCAGGAAATGTGTCTGTCTTGTTCACATGGGTGCTCACAAGAAGCTTCGTACATCTGTGTGGGAGGAATGAGTAGGGCACACATGGCAGGGGCGGGTGAGGACTCAGACAAGAAGTCGACTTCCCCATTCATGGGCCTGAGCTGCAAAACTGACATGTGACTGAGCCAGGCACCTCAGCGGTCCCCAAGGAGAACAAACGTTGCTGAACATTTGTCTTTATTTTTTATTTTTTAATTTTTTTGAGACAGAGTCTAGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACCACCACGCCCAGTTAATTTTTATATTTTTAGTAGAGACAGGGTTTTATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCGTGCCTGGCCTACGTTTCCCTTTAGATTGGGATTCCACACTCTGAAATCAAGTTGGCCTGAGGCTGTGGAGCAACTTCCAAAGGGGATAAGACAGGAGTTGCTCTGTCCAATCTCTAGGCAAGACGGCAGCAAAACATGACCAGCAGGAGGGGTCATTCCATGAGAGAAAATGCAGTCACATTGGGAAAAAAAGAAAAAAAAAAAAAAAAAAAGAGCCTGTCACATAAGGCTCTTGGTAGAGGGGTAAAGTAATGGTTTTTTTTTTTGTTTGTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAACTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAGAGGCATGTGCCACCACATCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCATCATGTTGGCCAGG
Task1_train_22894
Assess the clinical impact of this variant on gene FA2H (fatty acid 2-hydroxylase), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Hereditary spastic paraplegia 35
GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCGGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCAGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
Task1_train_22895
This alteration occurs within gene FA2H (fatty acid 2-hydroxylase) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
Pathogenic; Spastic paraplegia
GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCGGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
GTCAATATCTGTCCCCTTGGCCTTCCCAACTCCCGAGGCCATTCTGGCAGAAGTCAAGGGTGGGGAACCTGTGTCTTTTATTGTCCCCAGCATGAAGCTGGAATAAACCCTAATTCCTTATCTGGCCTTCGTTTCTAGGCTACGTGGCCCCCTCCCACCCCCCACCTCCATCTCCTTCCCCTTCCTTGGGGCCCAAGTTCATTCCTGCCTCAGGGCTTTGCACCAGTCGCTCTTGGGACGCCAGATGCTGATTTCTCTTCATTAGGGTCTTAGCTCTAATGGCACCTCTGCAATGACACCTGGACCATTTAATCTCTTTGCTGTCCAACTAGCCCTTAGCCACACATGGCTACTGAGCACTAGAAATGTGGCTAGAGCTCCAGAGAAACTGAATTTCTAACTTCATTTAATTCTGATGAATTAACATGTCAATGTAAAAACTGATGCTTGATTGAGTTACTGGAATTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGTTCTTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTCCAAGAGATTCTCCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCGCACCACCATATCCAGCTAATTTTTTGTGTTTTTAGTAGAGAGGGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGTCTCGGCCTCCTCAAGTGTGTTACCGGAAAATGTTTAAGCATGTTTGGAGCAACTTACCTATGTGAACTACTGTTTGCAAATTTTATAAAATCTAGATATGGATCTAGTATTTCTAATGAAACTTTAGTATCTGAATTGAGATGTGCTGTAAGTACAAAATACACCTTAGATTTCAAAGACTTAGTATAAGAGTTGCTAATTATTTTTTTTTAAAGAGACTTTACAAAAAGGGTCTCACTCTGTCACCCAGGCTGGGGTGCAGTGGCATGATCATAGCTCATTGCTGCCTCAAACTCCTGGGCTCAAATGATCCTCTTGCCTCAGCCTTCTAGGTAGCTGAGATTACAGGTGCATATCACCACACATGGATAATTAAAACTTTTTTATGTAGAGACAAGGTCTTGCTATGTTTCCCAGACTGGTCTGGAACTCCTGGCTTCAAGCAATCCCCTGCCTCCGCCTCCTATAGTGCTGGGATTATAGGCCTGAGCCACTGCGCTCAGCCATTAATGATTTTTTAATGTTGATTACATGTTGAAATAATAATTTGCTTATGTTAAGTAAATGTTATTAAAATTCTTTTCATCTGTTTATTTTCATGTCTTAGTGTGGCCACTAGAAAATTTAAAATCACATATGTGGCCCACATAATATGTCAGTGGAAATCGCTGGACCCTCCCCCACCTATGTGATATTCCATCACCTTGCTTTACTTTCTTCTTCTTCTTCTTTTTTTTTTTTTTTTTATAGACAGAGCCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTTAGCTCACTGTAGCTTCTGCCTCCTGGATTCAAGCTATTCTCATGCCTCAGCCTCCCAAGTAGCTGAGATTATAGGTGGGCACAACCACACCCCGCTAATTTTTGTATTTCTAGTGGAGACAGGTTTCACCATGTTGGCCAGGCTGGTCCCAAACTCCTGACCTCAAGTGATCTACCTGCCTCGGCTTCCCAATCCCCTCGGCTGGGATTACAGGTGTGAGCCACCACACCCAGCCCCTTTATTTTCTTTATGGCATTTATCACAGTTTGAAATCTTTGCCATTTATTGATGTCCTTGCCTGTCTCTGCACAGCTGTCTGCACCAGGGAAGAGAGTAGAGGGAACCCTCTGTATATGCCCCGTACATGGAACAGTGCCTTGCCGTTCCCAGGAGCTCGATGGTAGTTGGCAAATAAATCAATGAACACACATAGGGGGCTGGGAAGCACAGGCCCATCCTCACCTGACTTCTGATGTGCAAAGTGGTGCTTGACGTGGTGGGCCTTCAGGCTGTACAGGTAGGAGCCCTTGTGCAGCGAGCCAAAGTGCAGGTAGTAATGGGTCATGTCATAGAGGACGTAGCCCAGGAGGCCCCCCGCAAACACAGTGCCCCCTACTGCCTCGGGCAGGATGAGCTGCATGCACAAGTAGAAGACGCCGATCACCAGGGAGGCTGGCACAGGGGGGAAGACCAGGCGGGAGCCGTCGAAGGGTGCCTGCAGATGGAGAGGCTTGGGCATCAGGAGGCAGCCAGGGGCCCCGGCAGCTGGCCAAACCCTGGCCACTCCCTGCAGAGGACAGGGGCACAGCGGCCCAGACATTCCACTGCGTAGGCTTGGCACCTTTGGTGGCTTTGGGGAGGGCGGGCCACCACGTCTGGAAGATCTGGAGAGACTGTCTTACTTCCCATTTGTGAGCCAGGAAGGGACCTGGCAGATTGCAAAGGAACATGGGATGGGCGGGATGGGCAGGATGGGCAGGATGGGTGGGGTGTGCTGGCGGCTCAGAGCCCATCTTATAGAGGCCACTGTGACTCTGGAATTTGTCAGGTGCTAGACAGGTATCCCATCCCTAAATGCCGTGCCCCTGGCTAGAGGGGCATTCTGGAGACAGGGCACCTAGACTGAGGCCTGATGTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTG
Task1_train_22896
This genomic variant is located on Chromosome 16, within the FA2H (fatty acid 2-hydroxylase) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Hereditary spastic paraplegia 35
GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTA
GTTGTCTGGGAGAGCAAGGCACTGAGGGCAACTGAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGGAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTA
Task1_train_22897
The variant affects gene FA2H (fatty acid 2-hydroxylase), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Hereditary spastic paraplegia 35
GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGAGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTATGTTTAACCTTTTGAAGAATAGCCAGACTGTTT
GAGGTTAATGCAGCCTCTGTGGCGGGATGACCCGGAAGTGTCACTAGAGGTGTCCTCCCCACCCCCATGTCCAAACAGGAGGCCTTTTTTGTTCCAAGGGGGTGTCGCCACAGTGAACCAGAGAACACCGCTTCACCGTGGCCCTCGAGCTTCAGAAGCCAAGGGCCTGGCATAGAGGTGAGATCTTAGCTATGGCTTGGTGAGGAGTCTGAGAAGAGAATCCTGCAGCCTCTCTGGGCTGGAGGAGAGAGAGAGAAAGCAGGTGACAGTGACACAATGAGATGCTGGCGTGGGCCTCCCTCCCTTCAGACCAGGAACAACAGGACCAGTGATGTGCTGGAAAACCAGCTCTCAGGAAAAGGAGGAAGGGAGAGAGCTGGGGAATGAGGGAGGGGGAAATAAAGGGAGGGAGGGAGAGCCCTGATTGGTAGTGTTTGCCAATTCCTGCAGTGTGAAAACTGCCCTGGCGCTTTCAAGCGCTGAGGTGGCGTCACTGGAACAGAAACAGGAAAGGATGTGCATGGGTGCTCTTGTGAGCTGGTATGGGCCAGATCCGGGTCACAGCTGGATCAGGATCCTTAGATGGATAGGTCTGGGGATCTGAGAACACGTTCCTGATTGGAGCCCACGTGGCTACAGGCCATACAGTCTCCTCGGGTCCTCATGGTGTGGCAGCAGGGGACTGGACAGACTGGGGTGGAAGTGTCTCAAAAGAGGGAGCCTGAGACAGCCCCTGGGGCCCCAGAATGGCCTGAGCAGGTTCCCAGAAGGTTCTGGTGTCCCCTGTGGATGGGAAAGATAGCGGACAGGGCAGTGGATCTGAAAAGGCTTCACAAACAGGGCAAGGGACACAGAAGCAGATGCAGTGAGCTCTGCAGAGCAGAGGCCAGGTGAGGCTGGAGGACACAGGCCAGGCCTGGGCTGCGCTACCTCTGAGAGCATACCTGAGAGACAGGTTGGCCCAGGACTGGGCACCCACCCTGATACTGGCCCCTAGGAAAGCCCCCTAGGATGCAGATCAACTCTGGGGAGAGCCGGGAGGACCACAGCCAACCAACCTGAGAACTGTCCCAGGCGGCCGATCAAACCCCGAATCGGCTCATCGAGATGAACCGGATTAAGTTGCTGCTGGGAAACCAAGGTGAAACCCACGTTCAGTATCAGCGACATCAGGGTCTAAACTGGTGTCCCGAAAGTATCATATCTGCCATATTTTCTCTGATTTATGCCCAGCAGAGAACAGAGTGTGGAGACGGGCTGGGGAACAGCCTGGGATGGGCCAAGGACAGCACAATGCAGGGACAGAGAAGCAGCGGGGGGTACAGGGGAGGTAGCTTCCTTTGGGCAGACCTATCTTCTCGGGCCAGCTTCTGGGACTGTCGTGGAGTCCTTGAAGGGCCTCAGGGGAAGGGTGATTGAGAGCGCAGACTCTGGAATCCCCAGAATGGGGTACGACATCCTGGCTGTGCCAAGTGTGACCTGGGGCAAGTTCCTTAGTCCTCCTAGGCCTCAGTCTCCTGCTCTGTGGAACGGGGAGAACCATGGGGCTGTTTTCAGCACAAGCTCCAGGAGCGCAAGGCTTTTTGTTGTTTTGTTCAATGATGTCTAGAACAGTGTCTCGCACACAGGAGGCACTCACTGGGCATTTGCTGAATGAATGAACGAATGAATGAGTTGTTTTGAGGATTAAAGGTGATGCGTAAACAAGGGTGCAGAGGGCCTGGGGTCAGCTTGATGCTGCACACCCACGCTGTCCCCGCCTGGCTTAGGTTCGGATGCCCAACCCAGTTGCCCCGTGAGTCACATCAAACGTCCCGTCCCTCCCAACCCACAGCCAGACTCCCAGGAGGCTCCGCAGCACCTGAAGCTGCGGCTGGCTGCCGGGCCCTCTCGGGCTGCACATGCTAGGTCCGGGCTGGGACCCCGCCCCGCTCACCTTGTGGTGCTGGCCGTGCATGACGAAGTGCAGCATGATGAGGTAATAGCTGTCGCTGGGGGGCTTCATGTGGAACAGGAAGCGGTGGATGAGGTACTCGATGAGGCTCCAGGGGAATGTCCCCAGCATGAAGAGCCCGGGGAACATGGACTTGGGCACTGCCACCGTGTACTCTGCAGGGTGGCAGGGAGAGCGAGGTGAGGACCGGTGCATAGCAGCCTGGTAGCTCCAGGTGTCCCTGCCTCACCATCCCCATCAGCTCGGGAGCTGCTGCCCTCTGTTGGACAGCTACAGGGCCAGGCCATACTGCTGGGGTCCTTGAGTCAAAATGGGAAGGAGGCTGTAGGACTCTGGTCTGGGTCTGGGAAGTCCTTTACAGGAGTGATGGGCCACTGGCTGGAGGCCTGACATCCTCCTTACAGAGGCTGTGGGAGGAGTGGCTGTGGCTGGGGCTGGGCCTTTACCTGGAAGGGTGACCTTGCCCCAAGGACATTGGAGAAGAGAAGGCGACACTCCTGAGCCAGGGCGTTGTTATTATTATCTTGAGACAAGGTATCTCTGTGTCGCCCAGGTTGGAAGACTGGAGTGCTGGAGTGCTGGAGGGCAGTGGTGTGATTACAGCTTACTGCAGCCTTCCCTTCCTGGGCTCAAGCGATCCTTCCACCTCAGCTTCTCAAGTAGCTGGGACCACAGGTGCATGCCACCGCACCCAGCTAATTTTAAATTTATTTTTTATTTTTATTTTTTTTGTAGAGACGAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACTCCCAGACTCAAGCAATTCTCTCGCCTTGGCCTCCCAAAGTGCTGAGATAACAGAAGGGAGCCACTGTGCCTGGCCTCCAGGGTGTTAATGATGGGAAGTGTGACCCACCAGGGACCATGGGGCAGGAAGGACAAGAAAAAACAAGCACCGAGATCTCAACAGACAAGACCTGAAATCATAGCACAGGAGGAAGATGTGAAAACACTGAAGATGATCAGCCTAGGTGGAGAGGAGAAGACTGGAGACAGGGCACCATCTTCAAGCACATGCTTCCCACCACCCTCCGGAGACAGCCTGCAGTCCTAGCGGCTTTCAGCTCTTTCCTCCACCTCATTCATTCTTTGACCTCATGGAGATTTCAGCTCTCATTCCTGTTTGCTCCATATATTCATCCTCATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATAGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCCGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGAGGGGGTTTCACCATATTATCCAGGCTGGTCTTGAAATCCTGACCTCAAGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGATATGAGCCACCGTGCCCAGCCCATCCTCATCCTCTTATCTTTGTTTCTTTTCTCTACAAACCATAGCTTTGGCCATATCTTCTCTCTTCTTAACGGCTTTATCTAAATCTAATTCACATCCATATAATTCATCCAAATAAAATATATAATTCAGTGCTTTTTAGTACACTCACAAAGTTGTTAAACCGTCACCCCAGTCAATTTTACAACATTTTTATCACTTCCCCGCCAAGCCCCTGTACCCATTAGCAGCCACTCCCCATTTCTTCTCAGACCCTCCCAACCCTAGGAAGCTACAGGTCTACTTCCTCTTTGTTGGATTTGCCTATTCTGGACATTTCACGTCAATTGAATCATATGACATATGGTCTTTTATGACCGGCTTCTCTTACCGAATATGTTCAACATTCACCCATGTTGTAACATGTATTACAACTCCATTCCTTTTTAAGACTGAATGATATTCAAACTTTATTCATCCATCCATCAGTTGAGGGACACCTGGGCTGTTTGTAGCTCTTGGCTATTGTGAATAGTGCTGCTATGCACATTCGTGTAGAGGTTTCAGTGTGAAAAGATGTTGTCCTTTCTCTTGGGTACAAGCCCAGGAGTGGTACTGTTGGTTCATATCATAACTCTATGTTTAACCTTTTGAAGAATAGCCAGACTGTTT
Task1_train_22898
This variant impacts the gene FA2H, LOC130059394 (fatty acid 2-hydroxylase| ATAC-STARR-seq lymphoblastoid silent region 7701) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
Pathogenic; Hereditary spastic paraplegia 35
CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTG
CATTAAGGAACCAGTTCCATGACTGAATAAATGATGGAGAAATTAGGCAGGATGACCCAATGAAAAGCCACCTGAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCAGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTG
Task1_train_22899
This is a variant in LOC130059394, FA2H (ATAC-STARR-seq lymphoblastoid silent region 7701| fatty acid 2-hydroxylase), located on Chromosome 16. Is this mutation a likely cause of disease or not?
Pathogenic; Spastic paraplegia
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACGAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA
GAAACAGTGGGTGCTAAGTCCTTTCAACCAAAGATCTAAGAGTAGTTGCTGGGCTCATCTTGAAAGCAAGAGTTAGAAGCAGGGGACAATTGTTGGTTTTCAGGAGTCCCCCTTATCCACGGTTTCACTTTCCATGGTTTCAGTAACCCACGGTCAACCTGGGTCCAAAAACATAATTAAATGGAAAATTCCAGAAATAATTTATAAGTTTTAAATTACTTTTCAATAGTAGCCAATGCCACATCACCACACCTGTCATTCACCTCACTCCAACCCATCATGTAGGCATCTTATTATCTTTTTTTTTTTGAGGTGAGCTCTCACTCTGTTGCTCAGGCTGGAGTGCAGTGGCATGATCATGGCTCACTGCAGCCTCCACCTCTCAGGTGATCCTCCCACCTTAGCCTCCCAAGTAGCTAGAATTATAGCCACATGCCACCACACCCGGCTAATTTTGGTATTTTTTGTAGACACAAGGTCTCCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCGAGCGATCCTCTTACCTCGGCCTCCCAAAGTGCTAGGATTACAGATGTCAGCCACTTTGCCTGGCCTCATGTTATCATCTTACATTATCACAAGAAGAGTGAGTACAGTACTATAAGATGTTTTGAGAGAAAGGGACCACATACAAATAGCTCTTATTACAGTATATTGTTGTAACTATTCTATTATTGTTGTTGTTAATCTCTTCCTATTGTTCTTAATTTATAAATTTAACTTTATCATAGATATGCATATATGGGAAAAAACATAGCATATATAGGATTCGGTACTATCTGTGGTTTTAAGGATCCACTGAGGGTCTTGAAATGTATCCCCTTGGACAAGGGGGAACTACTGTATATCTAAGCATGATGGCCCCATACCAGTCCCAGAGCCAGGCCTGGGGAACATCAAGAGAGTCGCTTTGCCTCTGGCCTGAGCCTACCTGGAATCCTGTGGACTAGGTCTGTCTCCTCCACCCGAAGACTTTTGGGATGGAGCCAGCATTGATTTTGGAGTCAGATACATGTGGCTTTCCCACTATTTAGCTATTTGACCTTAGGCGCATTAATCAGAGCCTCCCTGAGCCTCAGATTCCATATCCTGAAATGGGAATAACAAAACCTGCCCCAGGTTGAGTTAAGGACTTAAATACCATCGGGAGCTGGTACTGCACAGAAGCGTGCAGCTCAGCACACAGTCTGGTCCAAAGTGCTGGTCCCTTTTCCTTGGCAAAACTGGCTCATGCCTTTCATTTCACTCTTTTGGAGTCCCAAGCCAGCGTGTAGGACAAGAATATAAGGGAAGGTCTGAGAGGTTGGAGGACACAGTCCACCCCAGACATGGCCCAGGCAAGGCCAGGGCGGCACCAGGAAACCCAAGCTAGTGAGAAGAGTTACTGATCTGTGCCTCTTTGAAGCAGAAGTGAGGTGGGATGGGGAGGTGGGAACAGGTTGAGCCCATTATCCAAACAGAAACGGAGAGTGGTTGCAAAGAGGGAGAGGCCGATAAGTGAAGAGGAAGGAAAGCCGAGGCGTATGGGGGGCTGGGGACAGAAACGGGAATCCAGGTTGTCGGAGGGCAGGGGCTGCAGAAGGAACACGCTGGAAGGAGGGGTGCTGGGGAAATGGGAGAGCTGGCACGGAGGCGGGCCAGGCGGTAAGGGTGGAAAGGAAGAGCAAGTTCCTGGAGAGAGGAAGGAGGGGTTGGAGGGGACGACAGTGACCTGTTGCCTGGAGAGAAGAGAGGGAAAGCGAGGGAAGGGAGGGCAGAAGCTGTCACCTTGGGTCCTGCTAGAGGGCAAGTGAACGGGGCTCGCCCGGGAGTGGAAGGCTGACGGAGGCCTGGGTTGGGGTGGGGGGCCCCGGCCCGGCTGTACCTGCTGCTCCCCGCGGAGCTCTCCCACGTAGTACTGCTCCAGCCAGCGGCGCGCGTTGGCCGAGTGCCTGTGCGGCGGCCCGTCCAGGTCGGCGCTGATGTCCTGGCCCGCCCTGGCCCGCAGCAGCTGCTCGCCCCCCGGGTGGTGCCGCACCAAGCTGGAGAGGTCGTAGAGGCGGGCCCCGCGGCGGACCCAGCACGCGCCGGCCGCCAGGCGCCGCTGGACCTCGGAGGGCGAGAAGGAGGCGGCGGGGGGCGGAGCGGGGGCCATGGCCGGAGACCGCAGCTCCCAGCGCGCAGCCCGGCGTCTGCTCTGCTGCCACCCTGAGCGCCTCTAACATCCCGGGAGCCCCGCGGCCGTTCCGGGCGGGCCGCCACCGCACCTGCTCATTTGCATACCGCGCTCCCATTGGCCGGCCGGGAGCCCCGGCAGAGCCGCGAGGGGCGGGCCCGGCGCCGGGAGCTGCGCGCCAGGTGGCCGCGGACAGGGAGTGCCGCGCCCGCCAGGTGTGTCCCGCGCGGGAGGAGGGTGGGCGGACACAGGCGGAGCGAGTCTCCCCGTCGCGGGTGGTTGTCTGGGCGGACATCCTCGGTGGCCTGATCGCTGCTGGAATAACTTCAACTGCTTCCACGGAGGAGCTGGCCGCATGGGACCCTCTGGCTCCAGGAGGTGCCCGAGAGAGCGAGAGGCGAATGAGGTGCTCGCCTCGGGTGCAAATATTTGTTTGTTTTTAAAATTTCAGTAGCTTTTGGGGTACCAGTGGTTTTTGGTTACATGGAGGAATTGTATAGTGGTAAGTCCTGAGATTTTAGTCCACCTGTCCCCCGAGTAGTGTACATTATACCCAATGTGTAGGGTTTTGTGTGTGTGTGTGTGTTACACCCCCTCCCATTCTCCCTATTGTCCATTATATCACTCTGTATGCCTTTGCGTCCTCATAGCTTAGTTCCTACTTATGAGTGAGAACATACAGTGTTTGGTTTTCCATTCCTGAATCACTTTCACTTAGAATAATGGCCTCCAGCTCCATGCAAGTTGCTGCAAAAGACTTCATTTCGTTCCTTTTTATGGCTGAGTAGTATTCTATCGTGTATATCAACTACATTTTCTTTATCCACTCATTGGTTGATGGTTATTTAAGTTGGTTCCATATCTTTTCGATTGTGAATTGGGCTGCAAAAAACAAACATTCGTGTGCAAGTGTCTTTTTCATATAATGACTCTTTTCCTTTGGGTAGATACCCAGTGGTGGGATTGCTGGACCGAATGGTGAATCTACTTTTTCTCTCCTCCCCTCCCCTCCCCTCCCCTTCCCTTCCTTTCCCTTCCCTTCCCGTGACAAGGTCTCACTCTGTCACCCAGGCTGGAGAGTAGTGGTGCGATCTTGGTTCACTGCAGCCTCGACCTCCCGGGCTCAAGCAATCCTCTTACCTCAGCCTCCCAAGTAGCTGGCACTACAGGCATGCACCACTACGCCTGGCTAATTTTTGTATTTTTTGTAGAGACGAGGTTTCACCATGCTGCCCAGGATGGTCTCAAACTCCTGGGCTCAAGCGATTTGCCTGCCATGGCCTCCCATAGTGCACTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGCACAATCTCAGCTCACTGCTACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCAGAGTAGCTATGACTATAGGCGCGTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTCTCGAACTCCTGGCCTCTAGTGATCCTCCCGCCGCAGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAGTGTACTTTTAGTTTGTTAAAGAATCTCTGTACTGTTTTCCAAACAAGTTGTACTAATTTACATTCCCACCAGCAGTGCATAGCATAAGCATCCCCCTTTCACTACATACACGCAGACATCTACTGTTTCTTGACTTTTTAATAATGTTCGAGGGCAAAATTTAATGGGGCACCCCAAAACTCAGTCATCACTATATCTAATACCTGAACGTAATATTTAAAAAATTATATTGTTGGCTGGGTGCGGTAACTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGAATCACGAGGTCAAGA