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_5700
Here is a genetic alteration in CHRNG (cholinergic receptor nicotinic gamma subunit) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Autosomal recessive multiple pterygium syndrome
AAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGGGAAGTTCAGGGAGAGGGATGCTGAGTGAGGGGGATGCCGAGTGAGGGGGAGGCCGAGTGAGGGGGATGCCCAGTGAGGGGGATGCCCAGTGGCAGGCCAAGATGGGTGGATCACTTGAGTTCAGGAGTTCCAAGACTGGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAGAAAAAAGAAGAAGAAGAAGAAAAATTAGCCAGGCGTGTTGGCGCATGCCAGTAGTCCCAGCTACTCAGAAGGCTGAAGTAGAAGAATCAAGGTGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCCAGCAAAAAACAAACAAACAAACAAACACAAAAACCCTCACATGCCTACCCAACAGCCTTCACACCCACCCAAATCCTGACTCCCTGGAGGGAGTAGGAGGCAGTCCACCTCAGCCCTCTCTGGAGCCGCTGTCAGGTTCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGTGGGACACAAAGGAATCTCAGCCTGGGGAGTCCCAGAGCTGGGGTCCACAGCCTCAGGGGATGGAGGGTCTGAGGGGTATTGGGGCCTGCCCTGGACCCAGTTCCCTGAGTCCCCACTTCACACCCCCAGGGCCTCCCCGCTCTTTCCACCTCCAAGCTCCTGCTAGGCTCACGCCTGTCTATTGCAGGGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTGGTAAGCCGCAGGACGGAGGAGGGGTCAGCGCACCACGCCCTGGGACCTGCTGGGGATAGCATGGGGTGGCTCCAGCCACCAAGAGGTTGGAGGGCCCTAAATCGGACAGGCTGGGGTCTGGAAAACCCCCATGGTTGTGGGGGGAGTACTATCAAGAGGCTGGGGGATGCTTGGCCCCATTGGTGGCCTGTGGGGACTGGCACTGAAGTCGGGGGCTGAGCCCTCCATACTACACCCTTGCACCCCCAGAACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGAGGGGGTGCAGGCAGGGGTGTGGGGGACAAAGGACACAGGGTCTGGGCCCAGCAGAACAAGGCACTCTGGGAAAAGAGAAAGATGAGCAGAGGGTGCAAATCGGGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCAT
AAAATGGAAAGGCAAGGCTCTCAGAAGTGAGAAGGAAACGAGGGCTTTGTAAATTCCAGGAAAAGTGGGCCACACAGAGAGAAGCTCAGTGGGGGGGATGCCCAGGGAGGGGGAAGCTCAGGAAGGGGGAAGCTCAGGGAGGAGGAAGCTCAGAGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGCTTAGGGAGGGAGAAGCTCAGGGAGGGGGAAGCTCTGGGAGGAGGAAGCTCAGGGAAAGGGAAGCCCAGTGAGGGGGAAGGTCAGCGAGGGGGAAGTTCAGGGAGAGGGATGCTGAGTGAGGGGGATGCCGAGTGAGGGGGAGGCCGAGTGAGGGGGATGCCCAGTGAGGGGGATGCCCAGTGGCAGGCCAAGATGGGTGGATCACTTGAGTTCAGGAGTTCCAAGACTGGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAGAAAAAAGAAGAAGAAGAAGAAAAATTAGCCAGGCGTGTTGGCGCATGCCAGTAGTCCCAGCTACTCAGAAGGCTGAAGTAGAAGAATCAAGGTGGAGGTTGTAGTGAGCCAAGATCGCACCACTGCACTCCAGCAAAAAACAAACAAACAAACAAACACAAAAACCCTCACATGCCTACCCAACAGCCTTCACACCCACCCAAATCCTGACTCCCTGGAGGGAGTAGGAGGCAGTCCACCTCAGCCCTCTCTGGAGCCGCTGTCAGGTTCCTCGGCGACCTGCCTTCCCTACCACACCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGTGGGACACAAAGGAATCTCAGCCTGGGGAGTCCCAGAGCTGGGGTCCACAGCCTCAGGGGATGGAGGGTCTGAGGGGTATTGGGGCCTGCCCTGGACCCAGTTCCCTGAGTCCCCACTTCACACCCCCAGGGCCTCCCCGCTCTTTCCACCTCCAAGCTCCTGCTAGGCTCACGCCTGTCTATTGCAGGGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTGGTAAGCCGCAGGACGGAGGAGGGGTCAGCGCACCACGCCCTGGGACCTGCTGGGGATAGCATGGGGTGGCTCCAGCCACCAAGAGGTTGGAGGGCCCTAAATCGGACAGGCTGGGGTCTGGAAAACCCCCATGGTTGTGGGGGGAGTACTATCAAGAGGCTGGGGGATGCTTGGCCCCATTGGTGGCCTGTGGGGACTGGCACTGAAGTCGGGGGCTGAGCCCTCCATACTACACCCTTGCACCCCCAGAACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGGGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGAGGGGGTGCAGGCAGGGGTGTGGGGGACAAAGGACACAGGGTCTGGGCCCAGCAGAACAAGGCACTCTGGGAAAAGAGAAAGATGAGCAGAGGGTGCAAATCGGGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCAT
Task1_train_5701
A mutation found in CHRNG (cholinergic receptor nicotinic gamma subunit) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Lethal multiple pterygium syndrome
CCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGTGGGACACAAAGGAATCTCAGCCTGGGGAGTCCCAGAGCTGGGGTCCACAGCCTCAGGGGATGGAGGGTCTGAGGGGTATTGGGGCCTGCCCTGGACCCAGTTCCCTGAGTCCCCACTTCACACCCCCAGGGCCTCCCCGCTCTTTCCACCTCCAAGCTCCTGCTAGGCTCACGCCTGTCTATTGCAGGGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTGGTAAGCCGCAGGACGGAGGAGGGGTCAGCGCACCACGCCCTGGGACCTGCTGGGGATAGCATGGGGTGGCTCCAGCCACCAAGAGGTTGGAGGGCCCTAAATCGGACAGGCTGGGGTCTGGAAAACCCCCATGGTTGTGGGGGGAGTACTATCAAGAGGCTGGGGGATGCTTGGCCCCATTGGTGGCCTGTGGGGACTGGCACTGAAGTCGGGGGCTGAGCCCTCCATACTACACCCTTGCACCCCCAGAACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGAGGGGGTGCAGGCAGGGGTGTGGGGGACAAAGGACACAGGGTCTGGGCCCAGCAGAACAAGGCACTCTGGGAAAAGAGAAAGATGAGCAGAGGGTGCAAATCGGGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATT
CCCAGCTGGCCCTGGCTGTCCTTGCCCCCCATGTGGAACATGGAGGTGAGGCTGGGACAACTGAGCCCGAGTTGGGGCTGGAAGGTGGATGTCTCTTTTGGGGCAGACGGGGCCCCTGTCTCCCCTCTCCAGCCCAGGTAACCTGAGCCCAGCATTGTGTCCATCCTGGAACAGCTGACAACGCTGTGGTCAGACAGCTGGTGGGGCTGGGCCAGGCTGGCCGGGCTGGCTGGGCTGGCTGGGGTGGGAGTGTAGGCTGTTATATGACACCCAGAGCCCATCTCTCTCTGCCCCAGACCTTGGAGCTGTTGTCCCACCCCTGTCACTGCAGAGAGCTGAGGCACCATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGTGGGACACAAAGGAATCTCAGCCTGGGGAGTCCCAGAGCTGGGGTCCACAGCCTCAGGGGATGGAGGGTCTGAGGGGTATTGGGGCCTGCCCTGGACCCAGTTCCCTGAGTCCCCACTTCACACCCCCAGGGCCTCCCCGCTCTTTCCACCTCCAAGCTCCTGCTAGGCTCACGCCTGTCTATTGCAGGGGCCCAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAACCTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACCAACCTCATCTCCCTGGTAAGCCGCAGGACGGAGGAGGGGTCAGCGCACCACGCCCTGGGACCTGCTGGGGATAGCATGGGGTGGCTCCAGCCACCAAGAGGTTGGAGGGCCCTAAATCGGACAGGCTGGGGTCTGGAAAACCCCCATGGTTGTGGGGGGAGTACTATCAAGAGGCTGGGGGATGCTTGGCCCCATTGGTGGCCTGTGGGGACTGGCACTGAAGTCGGGGGCTGAGCCCTCCATACTACACCCTTGCACCCCCAGAACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATGGTAAGAGGCCACCCTGCCACCCTCCTTCCATCAGGGGTCCCACCCCACCACCCCAAGGCCTCCTGAGAGTTGCCTGCCCCGTTCCTGCCTCTTCTGTCCTCTTGGGCTGGATGCCCACTCCTAGGGCTGTGGTGCAGCAGAGGGCAGAGGCCTAGCAACTGCCCCTCCCCCTGCAGCAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTGAGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAAGTGAGGAGGGGGTGCAGGCAGGGGTGTGGGGGACAAAGGACACAGGGTCTGGGCCCAGCAGAACAAGGCACTCTGGGAAAAGAGAAAGATGAGCAGAGGGTGCAAATCGGGCACCTGTGGGGCTAGGGAAGAACTGGATGGAGCAGGTGCCGAGGGCAGGGCCCTGGGTATGCCCTCTGACCCCAGGGCCAGCAGAGCAGACCCTACGCCAGGCTCCATCTCCTCTGGGCTGGGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCGTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATT
Task1_train_5702
A variant has been detected on Chromosome 2 in CHRNG (cholinergic receptor nicotinic gamma subunit). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Lethal multiple pterygium syndrome
GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATTCAGGAGGCCTGAGGGGGGGCAGCCACTAAGCGTGGGGGTGGCATCATGGTATGGGCTGCCAGCTCCTGCCCACCCCACCCTGACAGGTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAGGCAAGGACCCTCCCTGCCCACTTCAACATCCCGCTGCCCACTCCCCTACGCCTCCCTCTCGCACGCCCCGGCAGTACTCACCTGTGGCATTCCACAGCACACCCATCCTGGGCGTATCTGGACGCATGGACCAAAATCGATTACAGTAATACAGGAATGAAATTGCTTCCTAGGTGCCCGGGATATTACAAATGTTAATGTATTTCATCTTCATAAAACCCATATCACCTCCAATTACAGATGAGGACGTTGAGGCGCAGAGAGGTTAAGTAACCTGCCCAAGGAAGTGCACTACAAAGTCGAAAAAGCAGGAGTCTGCCAGGGCAGTCTGATTCCAGTCTGTGTGATCTGTAGCCCACCTGCAGCCTTCAGCTTGGGCCCTTGTTGCACATGCAGATTCCCAGGCCTGTCCCAGGCATTCTAGGCCAGAATAGCATGAGGGCTGGGGGCAGGAATCTGTGTTTATAACAAGTGCCCTGGTGATTCTGATGTGCACTGAAGTTTGGGGACCCAGGCTCGTGTCCAGTATAGAAAGCTTTACCAAGGCCACGTCACTGCCCCGGTATGCTGCCTCCATGGTCCCTAGCAGCACAAGCCCTTCACGCCAACCTCTGGCTTCTGCTCTGAAGCTCGGCCTGCTGCCCTAGTGAAGCCACCCCCTCTCTAGGTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAGGTGAGACACACCAGGTGTGCCTGGGGACAGTCCTCCCCTGGGACCCCAGCTGGGGAGCCAGGCACAGCAGATGAGTGCTGGAGAAGTGCCCAGGTCAGGGAGAGAGGAGCTGGGGTCCCTAAGGAGAGGCCATCTTCTCTGCCTGTTTCTCCTCCATTCTACTCCCAAACCTTACCCTTTCTCTTTATCAGAGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAATGTAAGCTGAGTCAGGGTGGGGTGGAGGTGGAGTGAGTACCTGGGCTTGGAACCGTGATAGAGACAGGATGAGTGGGGTTGCCAAGATAGGGCAGTGGGATGGAAAAACATGAGGCCGGGTGCAGTGGGTCACACCTG
GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGTGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATTCAGGAGGCCTGAGGGGGGGCAGCCACTAAGCGTGGGGGTGGCATCATGGTATGGGCTGCCAGCTCCTGCCCACCCCACCCTGACAGGTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAGGCAAGGACCCTCCCTGCCCACTTCAACATCCCGCTGCCCACTCCCCTACGCCTCCCTCTCGCACGCCCCGGCAGTACTCACCTGTGGCATTCCACAGCACACCCATCCTGGGCGTATCTGGACGCATGGACCAAAATCGATTACAGTAATACAGGAATGAAATTGCTTCCTAGGTGCCCGGGATATTACAAATGTTAATGTATTTCATCTTCATAAAACCCATATCACCTCCAATTACAGATGAGGACGTTGAGGCGCAGAGAGGTTAAGTAACCTGCCCAAGGAAGTGCACTACAAAGTCGAAAAAGCAGGAGTCTGCCAGGGCAGTCTGATTCCAGTCTGTGTGATCTGTAGCCCACCTGCAGCCTTCAGCTTGGGCCCTTGTTGCACATGCAGATTCCCAGGCCTGTCCCAGGCATTCTAGGCCAGAATAGCATGAGGGCTGGGGGCAGGAATCTGTGTTTATAACAAGTGCCCTGGTGATTCTGATGTGCACTGAAGTTTGGGGACCCAGGCTCGTGTCCAGTATAGAAAGCTTTACCAAGGCCACGTCACTGCCCCGGTATGCTGCCTCCATGGTCCCTAGCAGCACAAGCCCTTCACGCCAACCTCTGGCTTCTGCTCTGAAGCTCGGCCTGCTGCCCTAGTGAAGCCACCCCCTCTCTAGGTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAGGTGAGACACACCAGGTGTGCCTGGGGACAGTCCTCCCCTGGGACCCCAGCTGGGGAGCCAGGCACAGCAGATGAGTGCTGGAGAAGTGCCCAGGTCAGGGAGAGAGGAGCTGGGGTCCCTAAGGAGAGGCCATCTTCTCTGCCTGTTTCTCCTCCATTCTACTCCCAAACCTTACCCTTTCTCTTTATCAGAGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAATGTAAGCTGAGTCAGGGTGGGGTGGAGGTGGAGTGAGTACCTGGGCTTGGAACCGTGATAGAGACAGGATGAGTGGGGTTGCCAAGATAGGGCAGTGGGATGGAAAAACATGAGGCCGGGTGCAGTGGGTCACACCTG
Task1_train_5703
Chromosome 2 houses a mutation in gene CHRNG (cholinergic receptor nicotinic gamma subunit). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal recessive multiple pterygium syndrome
GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATTCAGGAGGCCTGAGGGGGGGCAGCCACTAAGCGTGGGGGTGGCATCATGGTATGGGCTGCCAGCTCCTGCCCACCCCACCCTGACAGGTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAGGCAAGGACCCTCCCTGCCCACTTCAACATCCCGCTGCCCACTCCCCTACGCCTCCCTCTCGCACGCCCCGGCAGTACTCACCTGTGGCATTCCACAGCACACCCATCCTGGGCGTATCTGGACGCATGGACCAAAATCGATTACAGTAATACAGGAATGAAATTGCTTCCTAGGTGCCCGGGATATTACAAATGTTAATGTATTTCATCTTCATAAAACCCATATCACCTCCAATTACAGATGAGGACGTTGAGGCGCAGAGAGGTTAAGTAACCTGCCCAAGGAAGTGCACTACAAAGTCGAAAAAGCAGGAGTCTGCCAGGGCAGTCTGATTCCAGTCTGTGTGATCTGTAGCCCACCTGCAGCCTTCAGCTTGGGCCCTTGTTGCACATGCAGATTCCCAGGCCTGTCCCAGGCATTCTAGGCCAGAATAGCATGAGGGCTGGGGGCAGGAATCTGTGTTTATAACAAGTGCCCTGGTGATTCTGATGTGCACTGAAGTTTGGGGACCCAGGCTCGTGTCCAGTATAGAAAGCTTTACCAAGGCCACGTCACTGCCCCGGTATGCTGCCTCCATGGTCCCTAGCAGCACAAGCCCTTCACGCCAACCTCTGGCTTCTGCTCTGAAGCTCGGCCTGCTGCCCTAGTGAAGCCACCCCCTCTCTAGGTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAGGTGAGACACACCAGGTGTGCCTGGGGACAGTCCTCCCCTGGGACCCCAGCTGGGGAGCCAGGCACAGCAGATGAGTGCTGGAGAAGTGCCCAGGTCAGGGAGAGAGGAGCTGGGGTCCCTAAGGAGAGGCCATCTTCTCTGCCTGTTTCTCCTCCATTCTACTCCCAAACCTTACCCTTTCTCTTTATCAGAGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAATGTAAGCTGAGTCAGGGTGGGGTGGAGGTGGAGTGAGTACCTGGGCTTGGAACCGTGATAGAGACAGGATGAGTGGGGTTGCCAAGATAGGGCAGTGGGATGGAAAAACATGAGGCCGGGTGCAGTGGGTCACACCTG
GGCCACCTGGGTGGGCTGCTCCCTTCCCTGTAACATGGGGCCGCTGACGGGTCCTATAGAAGCTGGCGAGAGTCAACAAGACAGGCATGAAAAGTGCATCACTCGGGGGCTGGCACATGGTGTGGGCTTAACACATTAGTCGCTATTATGACTATTATTATTATTATTATTATTATGATTAAAACAAGAGAGAGTAAGATAAGCAGAAATTAGGAGGTGGTGCCTGAGGAAGTCTGTCTGGGGCGGGGGGTGGCAGGAGGATTGCTGGGGGGACCTAGTGGTCCGGGTGGGAACCAGTCAGGGGGTGACAGGCTGGTAGGGACTGGTGTCCCCAGGCCCCTATCCACATGGGGCACAGGGGCTGGTCTGGGGCTGGGGTGTCGGGGGCTGAGCCCACAGCCTCGTGGCCTGGCCTGTTCTGTGCATACAGCGTGGACGGTGTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGGCTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGACTGGCAGAACTGCTCCCTTATCTTCCAGTGAGGCCATTTATTGGGGAGGATTAAGAGAGCTGCTCTCAGAGGGGCCTGGGCAGTGGTGGGGTAAGGCCTGGGCAAGGCTTCTGGCCTTGGCTCTGGCAGCACCTAGAGGCCTGGCTCCATCTCCCCTGGGCCTCTGTGCCCATCTCAGGCTAAGACACCTGAAGGTGCCCAAGCTCTCCCTGCTAAGCCCGAGTCCCCTCACTCATCCTTTACTGCCTCAGTTTCCTCACCTGTGCTCCAAGGGGAGACATTCACGCCTGGGGTGCGTGGGTGAGAAGGCACACATGCACACAAGATGCGTGTCTGCGCACACACGAAACCACTGCACACTCCAGGCCCACAGGGAGGCAGGGCTGTCCTGTGAGAGAGGGGCCCTGGCAGGGAATCCAGCGGAAGCATGTATGCAACCAAGCCACCCCTGGGGGTCTCTGGGTCTGTTTCCTCAAACCTAAGTGTGGGGAGGAGGGCCCGGGGGAGGGTTCTCCTGTACCTTAGAGGAGCAGTCTTTCCATGAGCAAACCTGGCAGGGAGACTCCCCTCTGTAGACACGGGGGTCCTCCTGAGGTAGGCATGTGTTTTCTACATTGCCATCATCAGCCCCTCCTGCCAGACAGCAGTGGGAGAGACAAATGCAGAGTGACCCTGGGCCCATCAGCCAGGTGAGGGCCCTGCAGCCTCCTGGGCCTTCAACTCCATCTTCCTGACCCCAAAGAGCCCTAGGTCCTCCTGCTCTCCATATCTCGCCAGTGGGGTTTTATAGAGAACTCAGAAGCGTGGGGCTGCATTTTGTTGAAGAAAAGCTGCCCACACTTGTCCCCAGAAGGTCATCCCCATGCAGTCGTGGCAGGTCCACCCGCTCACATTTAGCCTCTTTCCTCGGTGACTCCCAGGTCCCAGACTTACAGCACCAATGAGATTGATCTGCAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTCACAGGTAACCCCCACCCAAGGGCTCCCCAGGCAGCCTCATCCAGGGCTCCTGCTGGACCCAGCTGTGGTCAAGGCTGGACCAAGGTCAAATCCCTCCCATGTAACTCAAAATGAAAACTACAGCAAACCATAAAATATGCTTTTTAAAACGTCCAACAAAGCTCTGACTTTCCTCATGATAATGTCTCCAATTTTAGAAGAGGCTCGAGCATCCAATCTCCCACCCCACTTCTGTCCCTCAAGGGTGCCTCCCCTGCTGGTGCTCCTTAGGGCACATGCTGCCCTTGCAGCTGGGTCACTCGGCTGCAGGGATCTGCCTAGCTCACGCTTCTTGTGCCCACTCCTGCCTGCCTGCCTGCCCGCAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCGGCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGTGCAAGCCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATCCTCATCCACTTCCTTCCTGCCAAGGGTACCTGGAGCCTATGGGAAGGAGCCATCCAGTAGCACAGGGGACACCTGGGAGGCCGGGGTGGGCCCTGCCTGGGGAACAGAGTGGCATTACGACCCAGGACAGAGGCAGCGGGCTACTTCTGGGGTAAGGGGTTCCTCTGTGGGTGGGGGAGGTAGGAACCTGCTCTGAGAGCCTCTCGGTCATGGATAGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTGCTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAGGCGGTGCCACTCATCAGCAAGTAAGGCTGGTCTTCATGTCCACCCGCCTATGCCACTCTCCCTTCTTGGGAGCATGATGGCCTCCTGCATTGCCCTCTTGCCCTCCATCCACCCCCCCCATCCTCAATTCAGGAGGCCTGAGGGGGGGCAGCCACTAAGCGTGGGGGTGGCATCATGGTATGGGCTGCCAGCTCCTGCCCACCCCACCCTGACAGGTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTCGTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCCCGAGGGGTCCGCAAGGCAAGGACCCTCCCTGCCCACTTCAACATCCCGCTGCCCACTCCCCTACGCCTCCCTCTCGCACGCCCCGGCAGTACTCACCTGTGGCATTCCACAGCACACCCATCCTGGGCGTATCTGGACGCATGGACCAAAATCGATTACAGTAATACAGGAATGAAATTGCTTCCTAGGTGCCCGGGATATTACAAATGTTAATGTATTTCATCTTCATAAAACCCATATCACCTCCAATTACAGATGAGGACGTTGAGGCGCAGAGAGGTTAAGTAACCTGCCCAAGGAAGTGCACTACAAAGTCGAAAAAGCAGGAGTCTGCCAGGGCAGTCTGATTCCAGTCTGTGTGATCTGTAGCCCACCTGCAGCCTTCAGCTTGGGCCCTTGTTGCACATGCAGATTCCCAGGCCTGTCCCAGGCATTCTAGGCCAGAATAGCATGAGGGCTGGGGGCAGGAATCTGTGTTTATAACAAGTGCCCTGGTGATTCTGATGTGCACTGAAGTTTGGGGACCCAGGCTCGTGTCCAGTATAGAAAGCTTTACCAAGGCCACGTCACTGCCCCGGTATGCTGCCTCCATGGTCCCTAGCAGCACAAGCCCTTCACGCCAACCTCTGGCTTCTGCTCTGAAGCTCGGCCTGCTGCCCTAGTGAAGCCACCCCCTCTCTAGGTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGCCCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGATGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTCCAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAGGTGAGACACACCAGGTGTGCCTGGGGACAGTCCTCCCCTGGGACCCCAGCTGGGGAGCCAGGCACAGCAGATGAGTGCTGGAGAAGTGCCCAGGTCAGGGAGAGAGGAGCTGGGGTCCCTAAGGAGAGGCCATCTTCTCTGCCTGTTTCTCCTCCATTCTACTCCCAAACCTTACCCTTTCTCTTTATCAGAGAAAGGCCCGGAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCCTGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAATGTAAGCTGAGTCAGGGTGGGGTGGAGGTGGAGTGAGTACCTGGGCTTGGAACCGTGATAGAGACAGGATGAGTGGGGTTGCCAAGATAGGGCAGTGGGATGGAAAAACATGAGGCCGGGTGCAGTGGGTCACACCTG
Task1_train_5704
A sequence alteration has been identified in GIGYF2, KCNJ13 (GRB10 interacting GYF protein 2| potassium inwardly rectifying channel subfamily J member 13) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Leber congenital amaurosis 16
TCTTGTTAATTTATTATAGAAATAAGAATTCTTGCTGTCTTTATGTGTTACAATAGTCTTGGGTTGGGAAAATCTGTTGGTCTGATTTCTACTTAAGAATGAATGTCTAAGATTTTCAAACAGCAAAAGTTCACAATAATTAAGTTTCTGTGTTCTTGATATTCTTCTGCTATTATCAGTCTTAGACCACTCCAGAGTTCTTCTTTATTTTCTTTTCCTTTTGGTCAAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATAGATAAAATAAAAAACAGAGGAAACATAATTTTTATAGACTATTAGATTTAGAAAGAAATAATAGAGTTCATCTAGTCCAACCTCCTACTGGTGAATAAACACTGATTTTGTGTTTATAGAAAAAACTATTTGAAGTTGGAAACAGGAATTTGAGTTTGAAAATGCTTTGTTGCCTAATTATCTTTTGCTTTATCTACTGTAGATTTTTTTCCCTACTCACTCAAGTTATATCTAAGTAAAGCTTTATATCTATAAAGACTTAAATATATTTTTGTATTTATGAATTAGAGCCATCATGATGTTTTATATGATCAAATGAATCATACATAGGAGGGGAATGTTTTTACTTAGGTTGCTAGAAGTCATTTAGATGAATCACCGTTTGATTATTATGGAGGACAGTTTTAAAATAAAATTTTGCGTCTCCTTGCAATGCAAAATACCACCCCACAGGTTCCATTTGGGCTGGAGCTTATCTGATCACCTTCTGCCACAAATAAGTGAACATATATGTATGTGTTCGGGTGTCATGTTCAAATGCTTTTAGGTTTATGTATAAATCTGTACTTTGTTGTTTTTCTCGTTAATTTTTGTTCTTAGTTGTTAAAAATTAAGGAGGTAATACTTACTCAAGTTTCATAGTATAAAGAACCAAATGAATGATCTTTGTTGTCTTGAAAAAAATCCCAGCTCTTAAAGGATATTCACTAAGTATAGTGAAGTCGTCATTCCACCCAGGGAGCTAGGTTTGAAACTAAACTGTTGCTTCAATTTGCAGATGAAAATGAGAGATTAATGGTTGATTTTCTTAGAGTTCAGTTGTGTTAAACTTCACTGTCCATTTTGCCTTCATTACTAGTATCATACCACATTCTTATAAATTCACCAGCAACATTTCTGTATAAGTGTCTGTCAAGTTGAGTTACATTGATTTCAGCAGGTAACAAACTTTGTAATGTAGAGTGTTATGTTTCCAGAATGTGTATTGTTAGCTCAGCCATTCTTATGTAGGCATAGGCATGATTACCGTGATGTAGAGAGCTATAATTAGCATTGAAAAAAGAAAACATGAGATACAGTAAAGAAAAAGTAGCTGCATAACTGGCTGGGTGTATTTAATACATTAAAAAATGGATAAGTCTTATTCTGTCAGTCCTGTTTCAGAGATCTGAAAATTGTCAATGCTTTGTCCATTGATGTGGATATCCAGGTCAGTCCTGTTTGGGCTTTTAGAAACCAGAGGAGTTGGAAATTCAGGGACAGTCTTGTCAAAATTCTCCATCTTGATTTGATATTCACCTTTGGAACCTCGGGTCAACAGAGATGCAAAACAGTGATGTAACATGATTTCAGACGGTAGGTAGGATGTCCTCCTTTGGCATATTTCTCCAGTGCCCTCCTGCATTGCTGAAAGGAATACAACTAATTCAAAGTGAGAAGGATTTTCATGCTGGAGCAGAGTAGCCAGAGGACTTGATGGTGTAATGGAGTGATAGTACGTTAGTGGAAAGATGAAGAATGGACATTCGTCAGAACTGATGCCATCAAGGTGGAAATCCACACTGGTCTGGTAGAGTTTGCCATTTTCTCTTTCCTGATAGAGTACAGCTGAGACCCGGACACTGGTTAGAGGGCTAGGTCGGGTGTTGGCCACTTGGAAGATAAGATTAGGTTTGCCATCCATGTGAGCTACTACTGCTGTGTCAGTAAAGCGAATTGAAAAAGCTCGATTTTTTGGCCGGGCAATCTTCGCCACAAAAGCACCTAAATAAGAAATTATTGATTTTTTTTTAGAATGAAGACTTTAAATATCAATACTTTTTCTGAATGACAAGTGTATATCAAATATTTACACATTTCTTGGTGCCATGCCTTTCAGTGAGTCAGGAATTGAACTCATTGTTAATTTGGTCAGTCTTATTTGCCTGAAGCATTTTTCAAAGTACATTTCTGTTTAAAAACCATGATTTCAGAATAGATAAGCAAAATGATTTTGTTACAGAGAAATGTAAAACTTCATCCTCTAGTTTCTTACAAAGTCAAAGAATTGGTCATTTCCTATATTCCTGCCTGTGCTTAAAAAAAAGTAATAGAAAATAAATGCAACTTGGCTACAGCCAGATTACGTTGAAGTAGAGACTAGGTTCAGAGTAGAATGATTTGGGATGGGGAGGGGACCAATAGAATGAGTGATATTTTGGCCAGGCATGGTGTCTCACGCCTGTAATCCCGGCACTTTGGGAGCCCGAGGCGGGCGGGTCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATCATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTCTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTGCAGTGAGCCAAGTTTGTAGCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTGATATTTTGAAGAATTTTTAAACTTTGAAACGTATTTTTAAACTTTGAAACTCAGAAACCTTTTGTGGGGCAGGGGAGGACTGACTATCAGGTAATTTCAGTGCACCTTTCAGGTCTATCTTCCTTGTGCCCTAAGCTATATATAAGAGTTTCTTAATCAGTTTTGTGCCACAGATTTTGTTGGCGGGCTGTTGGTAAGGTCTAAGAAGTAAGTACTTACCAGAATTATGTTTTAAGTGCTTAAAAGTAAAATATAAAAGAAACCAAATTATTGAAATTCAGTTGAACATTTAAGAAATGTTATTATAGTACTATATGTGCCTTACTGATACATTAAATAACAGTCTAGTGGTGGTTTTAGTACTGTGATTTTCAAGTATTCTGGTTTGATATGACAAAATATTTATGATTTCTGTTTGAATCAAAGCTACTAATACTGCTGGTGGTATTGTTTTTTGTTGCCTGTAGGAGATGCCAAATTTCAATTAGTGGTTAGTGCCAAGAGATACAAGTTTTTCCCATATAAGTTTATAGACCCCCTTAATTGTATGCAAAGGACTGACCCAGTATAGGAACTCTTGTTGTAGAAGTTTGTGATTTGCAGGTTATAGAGCTGGTTGGTAGCACACTGGGATTTCATTCCAGATCATTCTTCATACGGCCCAATGCTTACCTTCTCAGATTATTATTGAATAGTATATTAAAGCCAAGTTTTCTTTTGAAATTATGTATGTCACATAAAAAGGGCACTAGTCCTCCTTTAAAGGAAAGAGTTTTCTGTGTTCATGAGCAAAATTTCATAATCTTTGTGGACATATTTCCAGTGCATTTTGCTAAGAATGTGTATACATAACTTGTTCTCTAACATATAATGCTGACTGTGGTGTTCTGGGCTCACTGGCATAAAGTAAATGTTGAAAAGATGAACTCATAGGAGGGAATTCTAGCTCAGTGAAGAAAAAAAACCAAATTCTTTTGTTAGGTAAAATGACTGTCAAAATAGGTATTGAATGTATTTATTTATGTATTTGACAAAATGATTAGCTTCAGTGAAAACCTCCTTTTAAACC
TCTTGTTAATTTATTATAGAAATAAGAATTCTTGCTGTCTTTATGTGTTACAATAGTCTTGGGTTGGGAAAATCTGTTGGTCTGATTTCTACTTAAGAATGAATGTCTAAGATTTTCAAACAGCAAAAGTTCACAATAATTAAGTTTCTGTGTTCTTGATATTCTTCTGCTATTATCAGTCTTAGACCACTCCAGAGTTCTTCTTTATTTTCTTTTCCTTTTGGTCAAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATAGATAAAATAAAAAACAGAGGAAACATAATTTTTATAGACTATTAGATTTAGAAAGAAATAATAGAGTTCATCTAGTCCAACCTCCTACTGGTGAATAAACACTGATTTTGTGTTTATAGAAAAAACTATTTGAAGTTGGAAACAGGAATTTGAGTTTGAAAATGCTTTGTTGCCTAATTATCTTTTGCTTTATCTACTGTAGATTTTTTTCCCTACTCACTCAAGTTATATCTAAGTAAAGCTTTATATCTATAAAGACTTAAATATATTTTTGTATTTATGAATTAGAGCCATCATGATGTTTTATATGATCAAATGAATCATACATAGGAGGGGAATGTTTTTACTTAGGTTGCTAGAAGTCATTTAGATGAATCACCGTTTGATTATTATGGAGGACAGTTTTAAAATAAAATTTTGCGTCTCCTTGCAATGCAAAATACCACCCCACAGGTTCCATTTGGGCTGGAGCTTATCTGATCACCTTCTGCCACAAATAAGTGAACATATATGTATGTGTTCGGGTGTCATGTTCAAATGCTTTTAGGTTTATGTATAAATCTGTACTTTGTTGTTTTTCTCGTTAATTTTTGTTCTTAGTTGTTAAAAATTAAGGAGGTAATACTTACTCAAGTTTCATAGTATAAAGAACCAAATGAATGATCTTTGTTGTCTTGAAAAAAATCCCAGCTCTTAAAGGATATTCACTAAGTATAGTGAAGTCGTCATTCCACCCAGGGAGCTAGGTTTGAAACTAAACTGTTGCTTCAATTTGCAGATGAAAATGAGAGATTAATGGTTGATTTTCTTAGAGTTCAGTTGTGTTAAACTTCACTGTCCATTTTGCCTTCATTACTAGTATCATACCACATTCTTATAAATTCACCAGCAACATTTCTGTATAAGTGTCTGTCAAGTTGAGTTACATTGATTTCAGCAGGTAACAAACTTTGTAATGTAGAGTGTTATGTTTCCAGAATGTGTATTGTTAGCTCAGCCATTCTTATGTAGGCATAGGCATGATTACCGTGATGTAGAGAGCTATAATTAGCATTGAAAAAAGAAAACATGAGATACAGTAAAGAAAAAGTAGCTGCATAACTGGCTGGGTGTATTTAATACATTAAAAAATGGATAAGTCTTATTCTGTCAGTCCTGTTTCAGAGATCTGAAAATTGTCAATGCTTTGTCCATTGATGTGGATATCCAGGTCAGTCCTGTTTGGGCTTTTAGAAACCAGAGGAGTTGGAAATTCAGGGACAGTCTTGTCAAAATTCTCCATCTTGATTTGATATTCACCTTTGGAACCTCGGGTCAACAGAGATGCAAAACAGTGATGTAACATGATTTCAGACGGTAGGTAGGATGTCCTCCTTTGGCATATTTCTCCAGTGCCCTCCTGCATTGCTGAAAGGAATACAACTAATTCAAAGTGAGAAGGATTTTCATGCTGGAGCAGAGTAGCCAGAGGACTTGATGGTGTAATGGAGTGATAGTACGTTGGTGGAAAGATGAAGAATGGACATTCGTCAGAACTGATGCCATCAAGGTGGAAATCCACACTGGTCTGGTAGAGTTTGCCATTTTCTCTTTCCTGATAGAGTACAGCTGAGACCCGGACACTGGTTAGAGGGCTAGGTCGGGTGTTGGCCACTTGGAAGATAAGATTAGGTTTGCCATCCATGTGAGCTACTACTGCTGTGTCAGTAAAGCGAATTGAAAAAGCTCGATTTTTTGGCCGGGCAATCTTCGCCACAAAAGCACCTAAATAAGAAATTATTGATTTTTTTTTAGAATGAAGACTTTAAATATCAATACTTTTTCTGAATGACAAGTGTATATCAAATATTTACACATTTCTTGGTGCCATGCCTTTCAGTGAGTCAGGAATTGAACTCATTGTTAATTTGGTCAGTCTTATTTGCCTGAAGCATTTTTCAAAGTACATTTCTGTTTAAAAACCATGATTTCAGAATAGATAAGCAAAATGATTTTGTTACAGAGAAATGTAAAACTTCATCCTCTAGTTTCTTACAAAGTCAAAGAATTGGTCATTTCCTATATTCCTGCCTGTGCTTAAAAAAAAGTAATAGAAAATAAATGCAACTTGGCTACAGCCAGATTACGTTGAAGTAGAGACTAGGTTCAGAGTAGAATGATTTGGGATGGGGAGGGGACCAATAGAATGAGTGATATTTTGGCCAGGCATGGTGTCTCACGCCTGTAATCCCGGCACTTTGGGAGCCCGAGGCGGGCGGGTCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATCATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTCTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTGCAGTGAGCCAAGTTTGTAGCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTGATATTTTGAAGAATTTTTAAACTTTGAAACGTATTTTTAAACTTTGAAACTCAGAAACCTTTTGTGGGGCAGGGGAGGACTGACTATCAGGTAATTTCAGTGCACCTTTCAGGTCTATCTTCCTTGTGCCCTAAGCTATATATAAGAGTTTCTTAATCAGTTTTGTGCCACAGATTTTGTTGGCGGGCTGTTGGTAAGGTCTAAGAAGTAAGTACTTACCAGAATTATGTTTTAAGTGCTTAAAAGTAAAATATAAAAGAAACCAAATTATTGAAATTCAGTTGAACATTTAAGAAATGTTATTATAGTACTATATGTGCCTTACTGATACATTAAATAACAGTCTAGTGGTGGTTTTAGTACTGTGATTTTCAAGTATTCTGGTTTGATATGACAAAATATTTATGATTTCTGTTTGAATCAAAGCTACTAATACTGCTGGTGGTATTGTTTTTTGTTGCCTGTAGGAGATGCCAAATTTCAATTAGTGGTTAGTGCCAAGAGATACAAGTTTTTCCCATATAAGTTTATAGACCCCCTTAATTGTATGCAAAGGACTGACCCAGTATAGGAACTCTTGTTGTAGAAGTTTGTGATTTGCAGGTTATAGAGCTGGTTGGTAGCACACTGGGATTTCATTCCAGATCATTCTTCATACGGCCCAATGCTTACCTTCTCAGATTATTATTGAATAGTATATTAAAGCCAAGTTTTCTTTTGAAATTATGTATGTCACATAAAAAGGGCACTAGTCCTCCTTTAAAGGAAAGAGTTTTCTGTGTTCATGAGCAAAATTTCATAATCTTTGTGGACATATTTCCAGTGCATTTTGCTAAGAATGTGTATACATAACTTGTTCTCTAACATATAATGCTGACTGTGGTGTTCTGGGCTCACTGGCATAAAGTAAATGTTGAAAAGATGAACTCATAGGAGGGAATTCTAGCTCAGTGAAGAAAAAAAACCAAATTCTTTTGTTAGGTAAAATGACTGTCAAAATAGGTATTGAATGTATTTATTTATGTATTTGACAAAATGATTAGCTTCAGTGAAAACCTCCTTTTAAACC
Task1_train_5705
This sequence change occurs on Chromosome 2, altering GIGYF2, KCNJ13 (GRB10 interacting GYF protein 2| potassium inwardly rectifying channel subfamily J member 13). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Leber congenital amaurosis 16
AAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATAGATAAAATAAAAAACAGAGGAAACATAATTTTTATAGACTATTAGATTTAGAAAGAAATAATAGAGTTCATCTAGTCCAACCTCCTACTGGTGAATAAACACTGATTTTGTGTTTATAGAAAAAACTATTTGAAGTTGGAAACAGGAATTTGAGTTTGAAAATGCTTTGTTGCCTAATTATCTTTTGCTTTATCTACTGTAGATTTTTTTCCCTACTCACTCAAGTTATATCTAAGTAAAGCTTTATATCTATAAAGACTTAAATATATTTTTGTATTTATGAATTAGAGCCATCATGATGTTTTATATGATCAAATGAATCATACATAGGAGGGGAATGTTTTTACTTAGGTTGCTAGAAGTCATTTAGATGAATCACCGTTTGATTATTATGGAGGACAGTTTTAAAATAAAATTTTGCGTCTCCTTGCAATGCAAAATACCACCCCACAGGTTCCATTTGGGCTGGAGCTTATCTGATCACCTTCTGCCACAAATAAGTGAACATATATGTATGTGTTCGGGTGTCATGTTCAAATGCTTTTAGGTTTATGTATAAATCTGTACTTTGTTGTTTTTCTCGTTAATTTTTGTTCTTAGTTGTTAAAAATTAAGGAGGTAATACTTACTCAAGTTTCATAGTATAAAGAACCAAATGAATGATCTTTGTTGTCTTGAAAAAAATCCCAGCTCTTAAAGGATATTCACTAAGTATAGTGAAGTCGTCATTCCACCCAGGGAGCTAGGTTTGAAACTAAACTGTTGCTTCAATTTGCAGATGAAAATGAGAGATTAATGGTTGATTTTCTTAGAGTTCAGTTGTGTTAAACTTCACTGTCCATTTTGCCTTCATTACTAGTATCATACCACATTCTTATAAATTCACCAGCAACATTTCTGTATAAGTGTCTGTCAAGTTGAGTTACATTGATTTCAGCAGGTAACAAACTTTGTAATGTAGAGTGTTATGTTTCCAGAATGTGTATTGTTAGCTCAGCCATTCTTATGTAGGCATAGGCATGATTACCGTGATGTAGAGAGCTATAATTAGCATTGAAAAAAGAAAACATGAGATACAGTAAAGAAAAAGTAGCTGCATAACTGGCTGGGTGTATTTAATACATTAAAAAATGGATAAGTCTTATTCTGTCAGTCCTGTTTCAGAGATCTGAAAATTGTCAATGCTTTGTCCATTGATGTGGATATCCAGGTCAGTCCTGTTTGGGCTTTTAGAAACCAGAGGAGTTGGAAATTCAGGGACAGTCTTGTCAAAATTCTCCATCTTGATTTGATATTCACCTTTGGAACCTCGGGTCAACAGAGATGCAAAACAGTGATGTAACATGATTTCAGACGGTAGGTAGGATGTCCTCCTTTGGCATATTTCTCCAGTGCCCTCCTGCATTGCTGAAAGGAATACAACTAATTCAAAGTGAGAAGGATTTTCATGCTGGAGCAGAGTAGCCAGAGGACTTGATGGTGTAATGGAGTGATAGTACGTTAGTGGAAAGATGAAGAATGGACATTCGTCAGAACTGATGCCATCAAGGTGGAAATCCACACTGGTCTGGTAGAGTTTGCCATTTTCTCTTTCCTGATAGAGTACAGCTGAGACCCGGACACTGGTTAGAGGGCTAGGTCGGGTGTTGGCCACTTGGAAGATAAGATTAGGTTTGCCATCCATGTGAGCTACTACTGCTGTGTCAGTAAAGCGAATTGAAAAAGCTCGATTTTTTGGCCGGGCAATCTTCGCCACAAAAGCACCTAAATAAGAAATTATTGATTTTTTTTTAGAATGAAGACTTTAAATATCAATACTTTTTCTGAATGACAAGTGTATATCAAATATTTACACATTTCTTGGTGCCATGCCTTTCAGTGAGTCAGGAATTGAACTCATTGTTAATTTGGTCAGTCTTATTTGCCTGAAGCATTTTTCAAAGTACATTTCTGTTTAAAAACCATGATTTCAGAATAGATAAGCAAAATGATTTTGTTACAGAGAAATGTAAAACTTCATCCTCTAGTTTCTTACAAAGTCAAAGAATTGGTCATTTCCTATATTCCTGCCTGTGCTTAAAAAAAAGTAATAGAAAATAAATGCAACTTGGCTACAGCCAGATTACGTTGAAGTAGAGACTAGGTTCAGAGTAGAATGATTTGGGATGGGGAGGGGACCAATAGAATGAGTGATATTTTGGCCAGGCATGGTGTCTCACGCCTGTAATCCCGGCACTTTGGGAGCCCGAGGCGGGCGGGTCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATCATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTCTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTGCAGTGAGCCAAGTTTGTAGCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTGATATTTTGAAGAATTTTTAAACTTTGAAACGTATTTTTAAACTTTGAAACTCAGAAACCTTTTGTGGGGCAGGGGAGGACTGACTATCAGGTAATTTCAGTGCACCTTTCAGGTCTATCTTCCTTGTGCCCTAAGCTATATATAAGAGTTTCTTAATCAGTTTTGTGCCACAGATTTTGTTGGCGGGCTGTTGGTAAGGTCTAAGAAGTAAGTACTTACCAGAATTATGTTTTAAGTGCTTAAAAGTAAAATATAAAAGAAACCAAATTATTGAAATTCAGTTGAACATTTAAGAAATGTTATTATAGTACTATATGTGCCTTACTGATACATTAAATAACAGTCTAGTGGTGGTTTTAGTACTGTGATTTTCAAGTATTCTGGTTTGATATGACAAAATATTTATGATTTCTGTTTGAATCAAAGCTACTAATACTGCTGGTGGTATTGTTTTTTGTTGCCTGTAGGAGATGCCAAATTTCAATTAGTGGTTAGTGCCAAGAGATACAAGTTTTTCCCATATAAGTTTATAGACCCCCTTAATTGTATGCAAAGGACTGACCCAGTATAGGAACTCTTGTTGTAGAAGTTTGTGATTTGCAGGTTATAGAGCTGGTTGGTAGCACACTGGGATTTCATTCCAGATCATTCTTCATACGGCCCAATGCTTACCTTCTCAGATTATTATTGAATAGTATATTAAAGCCAAGTTTTCTTTTGAAATTATGTATGTCACATAAAAAGGGCACTAGTCCTCCTTTAAAGGAAAGAGTTTTCTGTGTTCATGAGCAAAATTTCATAATCTTTGTGGACATATTTCCAGTGCATTTTGCTAAGAATGTGTATACATAACTTGTTCTCTAACATATAATGCTGACTGTGGTGTTCTGGGCTCACTGGCATAAAGTAAATGTTGAAAAGATGAACTCATAGGAGGGAATTCTAGCTCAGTGAAGAAAAAAAACCAAATTCTTTTGTTAGGTAAAATGACTGTCAAAATAGGTATTGAATGTATTTATTTATGTATTTGACAAAATGATTAGCTTCAGTGAAAACCTCCTTTTAAACCTTTTGTTAATTTTTTTTTTTTGATATGGGATATTTCTGCAATTTAGTATCATACTGATCTCTTTTTTCTTAAGTAGTTACAGTAAGTAAAATTTTGGCATTGAGACAGGTTCCTTATGCATTTCTCCTATTTTTTTTGGCTCTAAACTGTTTCTTTTCTATCTTAGACATTACCTGCTATCAATATAGATAAATTATTCTGTAACAGCATTACTTATAACTGACTA
AAATAGTAGAAAAATGTGACTTGCTGCTGAGCCCTGCTCTTCACACCTGCTTGCCTTTACTCAGCTAGTATTTATTTCAAGAGATGATTCCTGCCTAGGTCATCACCAGTGGGGAAGGTTAATCTTTCATTTTTCCCACAGAAACCTGAATAAGGGAAATTTCAGAAAAGAACAGCCACAAATCTGTTTGAAACCTGATAGGGTGACTTTTTTGGTTTTTGTTTTGTTTTAAGGACAGTTTCTCTTTTTTTTATTGAAATGAAAATCATGCAAATGATCATCTTAAACTGGACATAAGGGAAAGGGCTCATTTTAGCATAGATAAAATAAAAAACAGAGGAAACATAATTTTTATAGACTATTAGATTTAGAAAGAAATAATAGAGTTCATCTAGTCCAACCTCCTACTGGTGAATAAACACTGATTTTGTGTTTATAGAAAAAACTATTTGAAGTTGGAAACAGGAATTTGAGTTTGAAAATGCTTTGTTGCCTAATTATCTTTTGCTTTATCTACTGTAGATTTTTTTCCCTACTCACTCAAGTTATATCTAAGTAAAGCTTTATATCTATAAAGACTTAAATATATTTTTGTATTTATGAATTAGAGCCATCATGATGTTTTATATGATCAAATGAATCATACATAGGAGGGGAATGTTTTTACTTAGGTTGCTAGAAGTCATTTAGATGAATCACCGTTTGATTATTATGGAGGACAGTTTTAAAATAAAATTTTGCGTCTCCTTGCAATGCAAAATACCACCCCACAGGTTCCATTTGGGCTGGAGCTTATCTGATCACCTTCTGCCACAAATAAGTGAACATATATGTATGTGTTCGGGTGTCATGTTCAAATGCTTTTAGGTTTATGTATAAATCTGTACTTTGTTGTTTTTCTCGTTAATTTTTGTTCTTAGTTGTTAAAAATTAAGGAGGTAATACTTACTCAAGTTTCATAGTATAAAGAACCAAATGAATGATCTTTGTTGTCTTGAAAAAAATCCCAGCTCTTAAAGGATATTCACTAAGTATAGTGAAGTCGTCATTCCACCCAGGGAGCTAGGTTTGAAACTAAACTGTTGCTTCAATTTGCAGATGAAAATGAGAGATTAATGGTTGATTTTCTTAGAGTTCAGTTGTGTTAAACTTCACTGTCCATTTTGCCTTCATTACTAGTATCATACCACATTCTTATAAATTCACCAGCAACATTTCTGTATAAGTGTCTGTCAAGTTGAGTTACATTGATTTCAGCAGGTAACAAACTTTGTAATGTAGAGTGTTATGTTTCCAGAATGTGTATTGTTAGCTCAGCCATTCTTATGTAGGCATAGGCATGATTACCGTGATGTAGAGAGCTATAATTAGCATTGAAAAAAGAAAACATGAGATACAGTAAAGAAAAAGTAGCTGCATAACTGGCTGGGTGTATTTAATACATTAAAAAATGGATAAGTCTTATTCTGTCAGTCCTGTTTCAGAGATCTGAAAATTGTCAATGCTTTGTCCATTGATGTGGATATCCAGGTCAGTCCTGTTTGGGCTTTTAGAAACCAGAGGAGTTGGAAATTCAGGGACAGTCTTGTCAAAATTCTCCATCTTGATTTGATATTCACCTTTGGAACCTCGGGTCAACAGAGATGCAAAACAGTGATGTAACATGATTTCAGACGGTAGGTAGGATGTCCTCCTTTGGCATATTTCTCCAGTGCCCTCCTGCATTGCTGAAAGGAATACAACTAATTCAAAGTGAGAAGGATTTTCATGCTGGAGCAGAGTAGCCAGAGGACTTGATGGTGTAATGGAGTGATAGTACGTTAGTGGAAAGATGAAGAATGGACATTCGTCAGAACTGATGCCATCAAGGTGGAAATCCACACTGGTCTGGTAGAGTTTGCCATTTTCTCTTTCCTGATAGAGTACAGCTGAGACCCGGACACTGGTTAGAGGGCTAGGTCGGGTGTTGGCCACTTGGAAGATAAGATTAGGTTTGCCATCCATGTGAGCTACTACTGCTGTGTCAGTAAAGCGAATTGAAAAAGCTCAATTTTTTGGCCGGGCAATCTTCGCCACAAAAGCACCTAAATAAGAAATTATTGATTTTTTTTTAGAATGAAGACTTTAAATATCAATACTTTTTCTGAATGACAAGTGTATATCAAATATTTACACATTTCTTGGTGCCATGCCTTTCAGTGAGTCAGGAATTGAACTCATTGTTAATTTGGTCAGTCTTATTTGCCTGAAGCATTTTTCAAAGTACATTTCTGTTTAAAAACCATGATTTCAGAATAGATAAGCAAAATGATTTTGTTACAGAGAAATGTAAAACTTCATCCTCTAGTTTCTTACAAAGTCAAAGAATTGGTCATTTCCTATATTCCTGCCTGTGCTTAAAAAAAAGTAATAGAAAATAAATGCAACTTGGCTACAGCCAGATTACGTTGAAGTAGAGACTAGGTTCAGAGTAGAATGATTTGGGATGGGGAGGGGACCAATAGAATGAGTGATATTTTGGCCAGGCATGGTGTCTCACGCCTGTAATCCCGGCACTTTGGGAGCCCGAGGCGGGCGGGTCATTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATCATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTCTGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGATTGCAGTGAGCCAAGTTTGTAGCACTGCACTCCAGCCTGGGCAACAGAGGAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTGATATTTTGAAGAATTTTTAAACTTTGAAACGTATTTTTAAACTTTGAAACTCAGAAACCTTTTGTGGGGCAGGGGAGGACTGACTATCAGGTAATTTCAGTGCACCTTTCAGGTCTATCTTCCTTGTGCCCTAAGCTATATATAAGAGTTTCTTAATCAGTTTTGTGCCACAGATTTTGTTGGCGGGCTGTTGGTAAGGTCTAAGAAGTAAGTACTTACCAGAATTATGTTTTAAGTGCTTAAAAGTAAAATATAAAAGAAACCAAATTATTGAAATTCAGTTGAACATTTAAGAAATGTTATTATAGTACTATATGTGCCTTACTGATACATTAAATAACAGTCTAGTGGTGGTTTTAGTACTGTGATTTTCAAGTATTCTGGTTTGATATGACAAAATATTTATGATTTCTGTTTGAATCAAAGCTACTAATACTGCTGGTGGTATTGTTTTTTGTTGCCTGTAGGAGATGCCAAATTTCAATTAGTGGTTAGTGCCAAGAGATACAAGTTTTTCCCATATAAGTTTATAGACCCCCTTAATTGTATGCAAAGGACTGACCCAGTATAGGAACTCTTGTTGTAGAAGTTTGTGATTTGCAGGTTATAGAGCTGGTTGGTAGCACACTGGGATTTCATTCCAGATCATTCTTCATACGGCCCAATGCTTACCTTCTCAGATTATTATTGAATAGTATATTAAAGCCAAGTTTTCTTTTGAAATTATGTATGTCACATAAAAAGGGCACTAGTCCTCCTTTAAAGGAAAGAGTTTTCTGTGTTCATGAGCAAAATTTCATAATCTTTGTGGACATATTTCCAGTGCATTTTGCTAAGAATGTGTATACATAACTTGTTCTCTAACATATAATGCTGACTGTGGTGTTCTGGGCTCACTGGCATAAAGTAAATGTTGAAAAGATGAACTCATAGGAGGGAATTCTAGCTCAGTGAAGAAAAAAAACCAAATTCTTTTGTTAGGTAAAATGACTGTCAAAATAGGTATTGAATGTATTTATTTATGTATTTGACAAAATGATTAGCTTCAGTGAAAACCTCCTTTTAAACCTTTTGTTAATTTTTTTTTTTTGATATGGGATATTTCTGCAATTTAGTATCATACTGATCTCTTTTTTCTTAAGTAGTTACAGTAAGTAAAATTTTGGCATTGAGACAGGTTCCTTATGCATTTCTCCTATTTTTTTTGGCTCTAAACTGTTTCTTTTCTATCTTAGACATTACCTGCTATCAATATAGATAAATTATTCTGTAACAGCATTACTTATAACTGACTA
Task1_train_5706
This variant lies on Chromosome 2 and affects the gene SAG (S-antigen visual arrestin). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Retinal dystrophy
TTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCCAATTGCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGGGCATTAGAGCAAGGCTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTAGTGTGCTACTTGGGAGGCTGAGGTAGGAGAATCACTCAAACTTGGGAGGCGGAGGTTGCAGTGAACTGAAATTGTGCCACTACACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTAAAAAAAAAAAAAAATAGAACAGAACAAAATGGAATGGATTGGAAAATCTCAGAGTATGTCACACATGGTGAAGCTGAATATGGTGTCAGGAGAGTTGTTGCACGTTTGTGTCTGTTTACTGGGCTGTGTTACAAATCCAACTTTCAGAACATCTCGAAGCTAGTGGTCCAGGACAATGGGGTGGGGTGTGCGCAGCCAAGATGGGGGAAGATGAGGTGATTACAGAAGAAGGGGGCACAGAACAATGGGGAATGGAATTGGTTGTGTTAGATCTTATAGTGCTCTATAAGAGAGACCCCAAATTCAGATTTTTAGGTGACCTTTCTTGATTTTTACAACACTGTATAGGCCCAACAAAGCACCACCTATTTTCTGTTCTAGGAGAGGAGCAGGTCTTAGCACAGCTGCAGGGCTTCAGGAAAGTGGGTGCGCCCTGAGCCCAGGGAGCTTGAGAGAAGTGCCTGAATGCCTGGGGGCCTGGGGGCTTGACAGCTGAGAAGCCCAGGTGGGCGAGCAGAACAGGCGTTGGTGTGGCTCAACAACGGCCGGCTGATGGCAGGGAAGGATGCATATTTATTTTCCACTTAGAGTTTAGGACTGCTATGATTCCCTGGTTGCAGAACCAATAAATCCGTGCCTCATATGTCACCATGGACAGAGCTGGCTTCCTGTAATTTTTGCCAGCTCTACTTTCCCCTCCAGGCAGTGGTGGAGGGCAGGCCGGTGCCCTCCTCTGGCTCCCCAACGCATGTGAACGTGCAGAGATGAGGGAGGTTACAAAGGGCTTGCACTGGGGGCCAGGGGCTTCACACACTGGGAATCGGGGGAAGGTCACTGGCAGATCCGTTCATTCAGCCCACACAATGCTTAAAAGTCTTTTTATTTAATTTAAAAACTAGGAGATTTCACTCCAAATTCCACGTGAAGTTTCTTTTTTAAAAATCAAGCTGGCTGGGCGCGATGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAAGAGTTTAAGACCAGCCTGGCCAACCTAGTGAAACCCCAACTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCATGCCACTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCCAAAAAAAAAAAAAAAAAATCGTGCTGCCCGCACTGGGTGCCTTGCTGCCTGGCCACATGAGGCTGCCGCTGAACAGCAGGTGACCATGGGGGTCAGGGTTTCCATACCCTATCAGGGCATTCCTGGACCCCAGCGCTGGCCCTGTGAGTGCCTGTACCTCTGGCCCCTGCTGTAGGCAGTGGAAGTCAGTAAGATGCATGGGATCACAGTTGGGGACACCTAAGTGTGCAAGGTGGCAGGAGGCAAGGATAGCCAGGATGTGAATGACTCTCCACGGCAGCAGGAGGGCTCATGGGGCAGGTGGATCCCCTCCCTCTGGGGGCTTTGGGCCCATGGCACACTCCTTGCGCTACTGTAATTGTTTCACTGTCAGTATGCTTCCAAATCCCTAAATGGTGCAACCCCGAATAGGACATGGCCAAGACAAAAAGAGATAGTGCCACATCATGTGCCCTGTGTGAGGTGTGGCCCTCTGGCCCGGCACCCAGGGAGGGAGTCGCTGATCGCTGCCTGTCTGCTCTCTCTCCCCAACAGTCCTGTGGGGTTGACTTTGAGGTCAAAGCATTCGCCACAGACAGCACCGATGCCGAAGAGGACAAAATCCCCAAGAAGTAAGAGTATGGTTGCGGAATAGGTGAGGGGTCTGCGGTGGGGGTGGAGAGAAGAGACGACCTCCACCTTGTCTCTGTGGGACAGACCTCTTCCCATAGGGCTGGCACGGCTGGGGTACCATCTGCATGTGGGATGGAGGTCAAAGGTTGATCATTTTTGGGGAAAAAAAAGAAAACAAGAAAATGACAGGGAAGTTAGCAACCTCCAGGGCTCACGTAAGCCCCGAAAAGCTCCCGGGTTTCCCCTTTGTTGAAGTTTTGTTGTTGTTGTTTGTTTGTTTGTTTGTTTGTTTTTTGTGGTAAAATGTACACAACATGAAGTTTGCCATTTTAACCACTTTTTTTTCTTTTTTTCTTTTATTTTTTGAAATGGAGCCTCGCTCTGTCCCCCAGGCTGGAGTGCAATGTGACCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAATCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCATTTTAACCACTTTTAAATGTACCATTCAGTGGCTTAAGTACATTCCGAATGTTGTGTAGCCTTCACCGCTGTCTATACCCAAAACTTTCCCATTGCCTGAGCAGGAACTCTACAACCATTGAGCCTACCGCTCCATCCTTCCCATTCTCCCACCCCCTGTGCTGTTTTTTTTTTACCTAAACAAGATTTCCGCCTGGCCCTTCGCACTGTCTCCTTGTGCCCCATGTACACATCTCTGGAGGCGCAGGATAGTGAGCTGCAGTAATGGAGCTCGCATGTATATGGCAGCTATTCCATGAGGCCCTTGACGCCCTCACACCTTAGCCTTGCTGACAGGAGGCAGAGCTGGGAATCCACGGAGCCTAAGGGGCTAAGCTTGGCCCTCGGGATGTTGCCTGGCCCCACAGCTTCCCCCACAGGGAAGGGACCAGGACCCAGACCCCCAGGCTCTTCCACCGTCAGGGCTGCCTCAGGCTCTGACCAGTGTCGTTGCCCTCTTCCCGTCCACCCTGTCTCCATGGGGAGCATTCCTGGAGAATCTCCATGTGACAGTGGGGAGAGAACAGAAGCCTCCCTAAAGCGGCCTGGGTGCCAATCCCTGGCTTGTCTGTGGCTGTTTCCCACAGGAGCTCCGTGCGATTACTGATCCGCAAAGTACAGCATGCCCCACTTGAGATGGGTCCCCAGCCCCGAGCTGAGGCGGCCTGGCAGTTCTTCATGTCTGACAAGCCCCTGCACCTTGCGGTCTCTCTCAACAAAGAGGTAACCACCTACCATCGCTACTACCCGCAGGGCAGCAGGCCTAGGGGCAGGCCCCACACCCCTCTCTTCACCAGCCCCAGCCCTTAACTACATGGGTGCCTTGCAAGGAAGCTTGTTTCTAGGATAAAGCACCAACATGCGTAAGTGACTGGCCTGTTTTCACAGCCTGGAGCTGGTCAGCATGGTCCTTAGAGGAGGACGGAACTGGCTTGCGTTCCACCCACTGGCTGTCCCGAGGGACTGGGGAAGGAAGGGGCGCTGCTTTTCACATACCTGCCCCCCAGCTGTCCTTGTCCTGTCCACCTCCATGGGCCTTGTTCACTCATGGAGCATCAATAGCTGTGGTATCCCAAATTCTTCACTTCCTGGGAAATTTAAGTTTTGCAGAAACCATGTGGGATGGCAGTGTCACCTGTGATGTCATCTCTTAGGGGTGTCATGGTGGGAAAAGGTGAGAGCTGCTGGCCAAGGCTGGCTCTGGTTCCTCTGGTCAGCAGTCAGCCATTTGTGCACTGTGTGTATACACGTGTGTGGGTGTGCCAGGGGCTGTGTTACACGG
TTAGCCAGGCATGGTGGCGCGTGCCTGTAATCCCAGCCAATTGCTTGAACCTGGGAGGCGGAGATTGCAGTGAGCCGAGATTGTGCCACTGCATTCCAGCCTGGGCATTAGAGCAAGGCTCCATCTCAAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTAGTGTGCTACTTGGGAGGCTGAGGTAGGAGAATCACTCAAACTTGGGAGGCGGAGGTTGCAGTGAACTGAAATTGTGCCACTACACTCCAGCCTGAGCAACAGAGCAAGACTCCATCTAAAAAAAAAAAAAAATAGAACAGAACAAAATGGAATGGATTGGAAAATCTCAGAGTATGTCACACATGGTGAAGCTGAATATGGTGTCAGGAGAGTTGTTGCACGTTTGTGTCTGTTTACTGGGCTGTGTTACAAATCCAACTTTCAGAACATCTCGAAGCTAGTGGTCCAGGACAATGGGGTGGGGTGTGCGCAGCCAAGATGGGGGAAGATGAGGTGATTACAGAAGAAGGGGGCACAGAACAATGGGGAATGGAATTGGTTGTGTTAGATCTTATAGTGCTCTATAAGAGAGACCCCAAATTCAGATTTTTAGGTGACCTTTCTTGATTTTTACAACACTGTATAGGCCCAACAAAGCACCACCTATTTTCTGTTCTAGGAGAGGAGCAGGTCTTAGCACAGCTGCAGGGCTTCAGGAAAGTGGGTGCGCCCTGAGCCCAGGGAGCTTGAGAGAAGTGCCTGAATGCCTGGGGGCCTGGGGGCTTGACAGCTGAGAAGCCCAGGTGGGCGAGCAGAACAGGCGTTGGTGTGGCTCAACAACGGCCGGCTGATGGCAGGGAAGGATGCATATTTATTTTCCACTTAGAGTTTAGGACTGCTATGATTCCCTGGTTGCAGAACCAATAAATCCGTGCCTCATATGTCACCATGGACAGAGCTGGCTTCCTGTAATTTTTGCCAGCTCTACTTTCCCCTCCAGGCAGTGGTGGAGGGCAGGCCGGTGCCCTCCTCTGGCTCCCCAACGCATGTGAACGTGCAGAGATGAGGGAGGTTACAAAGGGCTTGCACTGGGGGCCAGGGGCTTCACACACTGGGAATCGGGGGAAGGTCACTGGCAGATCCGTTCATTCAGCCCACACAATGCTTAAAAGTCTTTTTATTTAATTTAAAAACTAGGAGATTTCACTCCAAATTCCACGTGAAGTTTCTTTTTTAAAAATCAAGCTGGCTGGGCGCGATGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAAGAGTTTAAGACCAGCCTGGCCAACCTAGTGAAACCCCAACTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATTGCTTGAACTCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCATGCCACTTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCCAAAAAAAAAAAAAAAAAATCGTGCTGCCCGCACTGGGTGCCTTGCTGCCTGGCCACATGAGGCTGCCGCTGAACAGCAGGTGACCATGGGGGTCAGGGTTTCCATACCCTATCAGGGCATTCCTGGACCCCAGCGCTGGCCCTGTGAGTGCCTGTACCTCTGGCCCCTGCTGTAGGCAGTGGAAGTCAGTAAGATGCATGGGATCACAGTTGGGGACACCTAAGTGTGCAAGGTGGCAGGAGGCAAGGATAGCCAGGATGTGAATGACTCTCCACGGCAGCAGGAGGGCTCATGGGGCAGGTGGATCCCCTCCCTCTGGGGGCTTTGGGCCCATGGCACACTCCTTGCGCTACTGTAATTGTTTCACTGTCAGTATGCTTCCAAATCCCTAAATGGTGCAACCCCGAATAGGACATGGCCAAGACAAAAAGAGATAGTGCCACATCATGTGCCCTGTGTGAGGTGTGGCCCTCTGGCCCGGCACCCAGGGAGGGAGTCGCTGATCGCTGCCTGTCTGCTCTCTCTCCCCAACAGTCCTTTGGGGTTGACTTTGAGGTCAAAGCATTCGCCACAGACAGCACCGATGCCGAAGAGGACAAAATCCCCAAGAAGTAAGAGTATGGTTGCGGAATAGGTGAGGGGTCTGCGGTGGGGGTGGAGAGAAGAGACGACCTCCACCTTGTCTCTGTGGGACAGACCTCTTCCCATAGGGCTGGCACGGCTGGGGTACCATCTGCATGTGGGATGGAGGTCAAAGGTTGATCATTTTTGGGGAAAAAAAAGAAAACAAGAAAATGACAGGGAAGTTAGCAACCTCCAGGGCTCACGTAAGCCCCGAAAAGCTCCCGGGTTTCCCCTTTGTTGAAGTTTTGTTGTTGTTGTTTGTTTGTTTGTTTGTTTGTTTTTTGTGGTAAAATGTACACAACATGAAGTTTGCCATTTTAACCACTTTTTTTTCTTTTTTTCTTTTATTTTTTGAAATGGAGCCTCGCTCTGTCCCCCAGGCTGGAGTGCAATGTGACCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAATCTCCCGAGTAGCTGGGATTACAGGCGTGCGCCACCACGCCTGGCTAATTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCCATTTTAACCACTTTTAAATGTACCATTCAGTGGCTTAAGTACATTCCGAATGTTGTGTAGCCTTCACCGCTGTCTATACCCAAAACTTTCCCATTGCCTGAGCAGGAACTCTACAACCATTGAGCCTACCGCTCCATCCTTCCCATTCTCCCACCCCCTGTGCTGTTTTTTTTTTACCTAAACAAGATTTCCGCCTGGCCCTTCGCACTGTCTCCTTGTGCCCCATGTACACATCTCTGGAGGCGCAGGATAGTGAGCTGCAGTAATGGAGCTCGCATGTATATGGCAGCTATTCCATGAGGCCCTTGACGCCCTCACACCTTAGCCTTGCTGACAGGAGGCAGAGCTGGGAATCCACGGAGCCTAAGGGGCTAAGCTTGGCCCTCGGGATGTTGCCTGGCCCCACAGCTTCCCCCACAGGGAAGGGACCAGGACCCAGACCCCCAGGCTCTTCCACCGTCAGGGCTGCCTCAGGCTCTGACCAGTGTCGTTGCCCTCTTCCCGTCCACCCTGTCTCCATGGGGAGCATTCCTGGAGAATCTCCATGTGACAGTGGGGAGAGAACAGAAGCCTCCCTAAAGCGGCCTGGGTGCCAATCCCTGGCTTGTCTGTGGCTGTTTCCCACAGGAGCTCCGTGCGATTACTGATCCGCAAAGTACAGCATGCCCCACTTGAGATGGGTCCCCAGCCCCGAGCTGAGGCGGCCTGGCAGTTCTTCATGTCTGACAAGCCCCTGCACCTTGCGGTCTCTCTCAACAAAGAGGTAACCACCTACCATCGCTACTACCCGCAGGGCAGCAGGCCTAGGGGCAGGCCCCACACCCCTCTCTTCACCAGCCCCAGCCCTTAACTACATGGGTGCCTTGCAAGGAAGCTTGTTTCTAGGATAAAGCACCAACATGCGTAAGTGACTGGCCTGTTTTCACAGCCTGGAGCTGGTCAGCATGGTCCTTAGAGGAGGACGGAACTGGCTTGCGTTCCACCCACTGGCTGTCCCGAGGGACTGGGGAAGGAAGGGGCGCTGCTTTTCACATACCTGCCCCCCAGCTGTCCTTGTCCTGTCCACCTCCATGGGCCTTGTTCACTCATGGAGCATCAATAGCTGTGGTATCCCAAATTCTTCACTTCCTGGGAAATTTAAGTTTTGCAGAAACCATGTGGGATGGCAGTGTCACCTGTGATGTCATCTCTTAGGGGTGTCATGGTGGGAAAAGGTGAGAGCTGCTGGCCAAGGCTGGCTCTGGTTCCTCTGGTCAGCAGTCAGCCATTTGTGCACTGTGTGTATACACGTGTGTGGGTGTGCCAGGGGCTGTGTTACACGG
Task1_train_5707
This alteration in UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Gilbert syndrome
ATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATACTCAGAGTAACCGTGTGACCTGTAGTAAGCAAAGGGCCAGTTGGCTCTATTTTAAATCCAGGCCCAGTTAGCCACTCAAGATCTATCTTACAGGACTGGCTCTTTCAGGTTCACACTAATAAAGGCCTGTCCTTGGGGAAGACTTCTGTTCACATGCGCTCCAGTGAATTTCCCTTTCTGGTCATTCTCTACCCCAGCACGCCCCCCACCCCCGACCCGCCCCACCCACCCACCTGTTCATTTCCTTCTTAGCATGCTTCACGATTTCTAAGTTCCTGCTCATGTGTTTAAATTGTGAGTCTGGCTCACCTCATGGCGCGTGCTCGTGTGGTGGGCTCTGCTGCAGCCTCAAGACCCCACACTGTGCTGGACTCAATAAATATTGTTGGACGAAGGAATGAAACACATGATACAAGTGAGCAGGCAGTACCGGGGGAGCTGTGGAGTGGGCACTCTTACAGGTTTCCATGGCGAAAGCGGGGGTACAGTTGTGTTCTTTTCTTTCTAAAAGGCTTTCTAAAAAGCCTTCTGTTTAATTTCTGGAAAAGAAGCCTAACTTGTTCACTACATAGTCGTCCTTCTTCCTCTCTGGTAACACTTGTTGGTCTGTGGAAATACTAATTTAATGGATCCTGAGGTTCTGGAAGTACTTTGCTGTGTTCACTCAAGAATGTGATTTGAGTATGAAATTCCAGCCAGTTCAACTGTTGTTGCCTATTAAGAAACCTAATAAAGCTCCACCTTCTTTATCTCTGAAAGTGAACTCCCTGCTACCTTTGTGGACTGACAGCTTTTTATAGTCACGTGACACAGTCAAACATTAACTTGGTGTATCGATTGGTTTTTGCCATATATATATATATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCTGCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGGTGTGTATTGGAGTGGGACTTTTACATGCGTATATTCTTTCAGATGTATTACTTTGGATCGATTAACTAGCCCCAGATATATGCTGAGCAAGCATTCTGAGATAATTTAAAATGCCCTCTTTTGTTAATTTTTGACTCCTAGGTTTGAGTCTGTCTTTGGCATCATCTTCTGGATGATTTCTTGGTATCTGAGATTTCGGGAAAGCATTCCTTGGACATTTTACTCTGTGTGCTCCAGTGGATAGTAATCAATTAGAAACAACAAGCTGTTAAATGCCATAGGCACAGAATGCTGGGTTTGGGGCACCCTGCAGAAAACTCAGTTGAAGCCTGCACCTTGCCCTGGATTCAGTCAGGCAGGCAATGTTCAGGACTGATGAAATCATTCTTTGATGATGATAGATCCTGGAAATGAAAGTTGCCTTTGTGACCCTGGTTAAAGCTCCAGTTTCTAAATATTCTGATAAGAAGCTAAATCCTGCAGTCCGTTCTCTTCTAATGAGTGAATCACCAGACAGTCAGGTTCTGACATGATACAGAAAGGTTGTAGGTTTCATTCTCAAGCTATTAGGTTTATTTTTCCCCTACAGAGTTTGAAGTATGCAAAAAGTAGCATTCACATCCTCATCGAAATCTCAGCAGAGGATAGAAAAGAACAGGAGAGGCTCCTTCAGATGGAGCGTTAGGGAATTACTCTTTGAGGAGGTGACATTTCAGAGAGCGTTCATTCACTTATCCTGCAAAGATTGGCTGAGGATCTACTGGCAGCCCAGGCACTTCCCAGGTGCTGCGTCTGGCTCCCATTAAGGGGACTGATATCACCTTCGGAGGTGACCTTATTTCCACTATACCTCCAATGTGATTTGTATTTTATTTTTTTTAATTTTCTGTGCATTTTCCTTCATAGCACATCAAATATGGCAGCCATTTCACTTAGATAGTTGTTGATTGTCCGCTTCACATCATGAGCCATGTGGGGACCTGTGTGACTTTGCATTAATCACATCCACTGTATGCGGCGTCCTCAACACCTGCCAATGGGTCTGCATGTATTTGGCGCCCCATAAATCTCAGCACCTAAGGCACAGAATAGGCACCCACCGAATATGTGTTACATTAATGAATGAGAAGAAAGGTGCCAACCGAGGTCTAGTTAATGGGTCGAGAGTAATCCACAATAGCTCTTTTTAGTTCTTTGTACTCCAGCTATTACATACCAATATGTATATAGAAACATATGTAAAATTTTTTGGTTGCTTTTTCTACAAAATAGAGTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCACTCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGGTACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCACAGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAAACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTTCTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTTTTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGCTGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATAATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATT
ATGTTGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACTTCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGCTCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGCCAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGTTCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATACTCAGAGTAACCGTGTGACCTGTAGTAAGCAAAGGGCCAGTTGGCTCTATTTTAAATCCAGGCCCAGTTAGCCACTCAAGATCTATCTTACAGGACTGGCTCTTTCAGGTTCACACTAATAAAGGCCTGTCCTTGGGGAAGACTTCTGTTCACATGCGCTCCAGTGAATTTCCCTTTCTGGTCATTCTCTACCCCAGCACGCCCCCCACCCCCGACCCGCCCCACCCACCCACCTGTTCATTTCCTTCTTAGCATGCTTCACGATTTCTAAGTTCCTGCTCATGTGTTTAAATTGTGAGTCTGGCTCACCTCATGGCGCGTGCTCGTGTGGTGGGCTCTGCTGCAGCCTCAAGACCCCACACTGTGCTGGACTCAATAAATATTGTTGGACGAAGGAATGAAACACATGATACAAGTGAGCAGGCAGTACCGGGGGAGCTGTGGAGTGGGCACTCTTACAGGTTTCCATGGCGAAAGCGGGGGTACAGTTGTGTTCTTTTCTTTCTAAAAGGCTTTCTAAAAAGCCTTCTGTTTAATTTCTGGAAAAGAAGCCTAACTTGTTCACTACATAGTCGTCCTTCTTCCTCTCTGGTAACACTTGTTGGTCTGTGGAAATACTAATTTAATGGATCCTGAGGTTCTGGAAGTACTTTGCTGTGTTCACTCAAGAATGTGATTTGAGTATGAAATTCCAGCCAGTTCAACTGTTGTTGCCTATTAAGAAACCTAATAAAGCTCCACCTTCTTTATCTCTGAAAGTGAACTCCCTGCTACCTTTGTGGACTGACAGCTTTTTATAGTCACGTGACACAGTCAAACATTAACTTGGTGTATCGATTGGTTTTTGCCATATATATATATATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCTGCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCATACAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGGTGTGTATTGGAGTGGGACTTTTACATGCGTATATTCTTTCAGATGTATTACTTTGGATCGATTAACTAGCCCCAGATATATGCTGAGCAAGCATTCTGAGATAATTTAAAATGCCCTCTTTTGTTAATTTTTGACTCCTAGGTTTGAGTCTGTCTTTGGCATCATCTTCTGGATGATTTCTTGGTATCTGAGATTTCGGGAAAGCATTCCTTGGACATTTTACTCTGTGTGCTCCAGTGGATAGTAATCAATTAGAAACAACAAGCTGTTAAATGCCATAGGCACAGAATGCTGGGTTTGGGGCACCCTGCAGAAAACTCAGTTGAAGCCTGCACCTTGCCCTGGATTCAGTCAGGCAGGCAATGTTCAGGACTGATGAAATCATTCTTTGATGATGATAGATCCTGGAAATGAAAGTTGCCTTTGTGACCCTGGTTAAAGCTCCAGTTTCTAAATATTCTGATAAGAAGCTAAATCCTGCAGTCCGTTCTCTTCTAATGAGTGAATCACCAGACAGTCAGGTTCTGACATGATACAGAAAGGTTGTAGGTTTCATTCTCAAGCTATTAGGTTTATTTTTCCCCTACAGAGTTTGAAGTATGCAAAAAGTAGCATTCACATCCTCATCGAAATCTCAGCAGAGGATAGAAAAGAACAGGAGAGGCTCCTTCAGATGGAGCGTTAGGGAATTACTCTTTGAGGAGGTGACATTTCAGAGAGCGTTCATTCACTTATCCTGCAAAGATTGGCTGAGGATCTACTGGCAGCCCAGGCACTTCCCAGGTGCTGCGTCTGGCTCCCATTAAGGGGACTGATATCACCTTCGGAGGTGACCTTATTTCCACTATACCTCCAATGTGATTTGTATTTTATTTTTTTTAATTTTCTGTGCATTTTCCTTCATAGCACATCAAATATGGCAGCCATTTCACTTAGATAGTTGTTGATTGTCCGCTTCACATCATGAGCCATGTGGGGACCTGTGTGACTTTGCATTAATCACATCCACTGTATGCGGCGTCCTCAACACCTGCCAATGGGTCTGCATGTATTTGGCGCCCCATAAATCTCAGCACCTAAGGCACAGAATAGGCACCCACCGAATATGTGTTACATTAATGAATGAGAAGAAAGGTGCCAACCGAGGTCTAGTTAATGGGTCGAGAGTAATCCACAATAGCTCTTTTTAGTTCTTTGTACTCCAGCTATTACATACCAATATGTATATAGAAACATATGTAAAATTTTTTGGTTGCTTTTTCTACAAAATAGAGTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCACTCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGGTACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCACAGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAAACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTTCTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTTTTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGCTGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATAATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATT
Task1_train_5708
A variant on Chromosome 2 in gene UGT1A9, UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8 (UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Crigler-Najjar syndrome, type II
AATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATACTCAGAGTAACCGTGTGACCTGTAGTAAGCAAAGGGCCAGTTGGCTCTATTTTAAATCCAGGCCCAGTTAGCCACTCAAGATCTATCTTACAGGACTGGCTCTTTCAGGTTCACACTAATAAAGGCCTGTCCTTGGGGAAGACTTCTGTTCACATGCGCTCCAGTGAATTTCCCTTTCTGGTCATTCTCTACCCCAGCACGCCCCCCACCCCCGACCCGCCCCACCCACCCACCTGTTCATTTCCTTCTTAGCATGCTTCACGATTTCTAAGTTCCTGCTCATGTGTTTAAATTGTGAGTCTGGCTCACCTCATGGCGCGTGCTCGTGTGGTGGGCTCTGCTGCAGCCTCAAGACCCCACACTGTGCTGGACTCAATAAATATTGTTGGACGAAGGAATGAAACACATGATACAAGTGAGCAGGCAGTACCGGGGGAGCTGTGGAGTGGGCACTCTTACAGGTTTCCATGGCGAAAGCGGGGGTACAGTTGTGTTCTTTTCTTTCTAAAAGGCTTTCTAAAAAGCCTTCTGTTTAATTTCTGGAAAAGAAGCCTAACTTGTTCACTACATAGTCGTCCTTCTTCCTCTCTGGTAACACTTGTTGGTCTGTGGAAATACTAATTTAATGGATCCTGAGGTTCTGGAAGTACTTTGCTGTGTTCACTCAAGAATGTGATTTGAGTATGAAATTCCAGCCAGTTCAACTGTTGTTGCCTATTAAGAAACCTAATAAAGCTCCACCTTCTTTATCTCTGAAAGTGAACTCCCTGCTACCTTTGTGGACTGACAGCTTTTTATAGTCACGTGACACAGTCAAACATTAACTTGGTGTATCGATTGGTTTTTGCCATATATATATATATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCTGCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGGTGTGTATTGGAGTGGGACTTTTACATGCGTATATTCTTTCAGATGTATTACTTTGGATCGATTAACTAGCCCCAGATATATGCTGAGCAAGCATTCTGAGATAATTTAAAATGCCCTCTTTTGTTAATTTTTGACTCCTAGGTTTGAGTCTGTCTTTGGCATCATCTTCTGGATGATTTCTTGGTATCTGAGATTTCGGGAAAGCATTCCTTGGACATTTTACTCTGTGTGCTCCAGTGGATAGTAATCAATTAGAAACAACAAGCTGTTAAATGCCATAGGCACAGAATGCTGGGTTTGGGGCACCCTGCAGAAAACTCAGTTGAAGCCTGCACCTTGCCCTGGATTCAGTCAGGCAGGCAATGTTCAGGACTGATGAAATCATTCTTTGATGATGATAGATCCTGGAAATGAAAGTTGCCTTTGTGACCCTGGTTAAAGCTCCAGTTTCTAAATATTCTGATAAGAAGCTAAATCCTGCAGTCCGTTCTCTTCTAATGAGTGAATCACCAGACAGTCAGGTTCTGACATGATACAGAAAGGTTGTAGGTTTCATTCTCAAGCTATTAGGTTTATTTTTCCCCTACAGAGTTTGAAGTATGCAAAAAGTAGCATTCACATCCTCATCGAAATCTCAGCAGAGGATAGAAAAGAACAGGAGAGGCTCCTTCAGATGGAGCGTTAGGGAATTACTCTTTGAGGAGGTGACATTTCAGAGAGCGTTCATTCACTTATCCTGCAAAGATTGGCTGAGGATCTACTGGCAGCCCAGGCACTTCCCAGGTGCTGCGTCTGGCTCCCATTAAGGGGACTGATATCACCTTCGGAGGTGACCTTATTTCCACTATACCTCCAATGTGATTTGTATTTTATTTTTTTTAATTTTCTGTGCATTTTCCTTCATAGCACATCAAATATGGCAGCCATTTCACTTAGATAGTTGTTGATTGTCCGCTTCACATCATGAGCCATGTGGGGACCTGTGTGACTTTGCATTAATCACATCCACTGTATGCGGCGTCCTCAACACCTGCCAATGGGTCTGCATGTATTTGGCGCCCCATAAATCTCAGCACCTAAGGCACAGAATAGGCACCCACCGAATATGTGTTACATTAATGAATGAGAAGAAAGGTGCCAACCGAGGTCTAGTTAATGGGTCGAGAGTAATCCACAATAGCTCTTTTTAGTTCTTTGTACTCCAGCTATTACATACCAATATGTATATAGAAACATATGTAAAATTTTTTGGTTGCTTTTTCTACAAAATAGAGTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCACTCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGGTACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCACAGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAAACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTTCTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTTTTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGCTGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATAATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTCTCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCTCTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTGCTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGCCATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCGTGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGCATTTATTGATATAACCATAAAAGTCTAAGTGGTGA
AATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGCCTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTCCCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGCAGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGTTCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATACTCAGAGTAACCGTGTGACCTGTAGTAAGCAAAGGGCCAGTTGGCTCTATTTTAAATCCAGGCCCAGTTAGCCACTCAAGATCTATCTTACAGGACTGGCTCTTTCAGGTTCACACTAATAAAGGCCTGTCCTTGGGGAAGACTTCTGTTCACATGCGCTCCAGTGAATTTCCCTTTCTGGTCATTCTCTACCCCAGCACGCCCCCCACCCCCGACCCGCCCCACCCACCCACCTGTTCATTTCCTTCTTAGCATGCTTCACGATTTCTAAGTTCCTGCTCATGTGTTTAAATTGTGAGTCTGGCTCACCTCATGGCGCGTGCTCGTGTGGTGGGCTCTGCTGCAGCCTCAAGACCCCACACTGTGCTGGACTCAATAAATATTGTTGGACGAAGGAATGAAACACATGATACAAGTGAGCAGGCAGTACCGGGGGAGCTGTGGAGTGGGCACTCTTACAGGTTTCCATGGCGAAAGCGGGGGTACAGTTGTGTTCTTTTCTTTCTAAAAGGCTTTCTAAAAAGCCTTCTGTTTAATTTCTGGAAAAGAAGCCTAACTTGTTCACTACATAGTCGTCCTTCTTCCTCTCTGGTAACACTTGTTGGTCTGTGGAAATACTAATTTAATGGATCCTGAGGTTCTGGAAGTACTTTGCTGTGTTCACTCAAGAATGTGATTTGAGTATGAAATTCCAGCCAGTTCAACTGTTGTTGCCTATTAAGAAACCTAATAAAGCTCCACCTTCTTTATCTCTGAAAGTGAACTCCCTGCTACCTTTGTGGACTGACAGCTTTTTATAGTCACGTGACACAGTCAAACATTAACTTGGTGTATCGATTGGTTTTTGCCATATATATATATATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCTGCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTCGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGGTGTGTATTGGAGTGGGACTTTTACATGCGTATATTCTTTCAGATGTATTACTTTGGATCGATTAACTAGCCCCAGATATATGCTGAGCAAGCATTCTGAGATAATTTAAAATGCCCTCTTTTGTTAATTTTTGACTCCTAGGTTTGAGTCTGTCTTTGGCATCATCTTCTGGATGATTTCTTGGTATCTGAGATTTCGGGAAAGCATTCCTTGGACATTTTACTCTGTGTGCTCCAGTGGATAGTAATCAATTAGAAACAACAAGCTGTTAAATGCCATAGGCACAGAATGCTGGGTTTGGGGCACCCTGCAGAAAACTCAGTTGAAGCCTGCACCTTGCCCTGGATTCAGTCAGGCAGGCAATGTTCAGGACTGATGAAATCATTCTTTGATGATGATAGATCCTGGAAATGAAAGTTGCCTTTGTGACCCTGGTTAAAGCTCCAGTTTCTAAATATTCTGATAAGAAGCTAAATCCTGCAGTCCGTTCTCTTCTAATGAGTGAATCACCAGACAGTCAGGTTCTGACATGATACAGAAAGGTTGTAGGTTTCATTCTCAAGCTATTAGGTTTATTTTTCCCCTACAGAGTTTGAAGTATGCAAAAAGTAGCATTCACATCCTCATCGAAATCTCAGCAGAGGATAGAAAAGAACAGGAGAGGCTCCTTCAGATGGAGCGTTAGGGAATTACTCTTTGAGGAGGTGACATTTCAGAGAGCGTTCATTCACTTATCCTGCAAAGATTGGCTGAGGATCTACTGGCAGCCCAGGCACTTCCCAGGTGCTGCGTCTGGCTCCCATTAAGGGGACTGATATCACCTTCGGAGGTGACCTTATTTCCACTATACCTCCAATGTGATTTGTATTTTATTTTTTTTAATTTTCTGTGCATTTTCCTTCATAGCACATCAAATATGGCAGCCATTTCACTTAGATAGTTGTTGATTGTCCGCTTCACATCATGAGCCATGTGGGGACCTGTGTGACTTTGCATTAATCACATCCACTGTATGCGGCGTCCTCAACACCTGCCAATGGGTCTGCATGTATTTGGCGCCCCATAAATCTCAGCACCTAAGGCACAGAATAGGCACCCACCGAATATGTGTTACATTAATGAATGAGAAGAAAGGTGCCAACCGAGGTCTAGTTAATGGGTCGAGAGTAATCCACAATAGCTCTTTTTAGTTCTTTGTACTCCAGCTATTACATACCAATATGTATATAGAAACATATGTAAAATTTTTTGGTTGCTTTTTCTACAAAATAGAGTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCACTCCAGTTTTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGGTACTTGTGTACCACAGTGTATTCTGCTGGAGATCTAGTCTAGTTCCCCACAGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCTCAAACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTTCTGTTTCTTTCTCATTCATCTTTTCTTAAGTATTTTACACGGTTTTTTTTTTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCATTTCTATCTCTAGCTGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATAATAAAAAATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTCTCTTATAAATTCCATGCCAAATATCAGGGCTATTGAATTTATTAGAATCTCTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTGCTGCTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGCCATTGTTTTCTGAACAGGCTTTATTGATTTAGATAATTTCCTTCTTTGCGTGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAGCTGCCTTTCTGGCATTTATTGATATAACCATAAAAGTCTAAGTGGTGA
Task1_train_5709
A variant found in Chromosome 2 affects UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Crigler-Najjar syndrome
CCATGTTGATGAAACAGGAAAACTTTCCTTGTCCCCCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTG
CCATGTTGATGAAACAGGAAAACTTTCCTTGTCCCCCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGTGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTG
Task1_train_5710
A genetic alteration is present in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Gilbert syndrome
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5711
Gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Lucey-Driscoll syndrome
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5712
Mutation context: Chromosome 2, Gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Crigler-Najjar syndrome type 1
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5713
This variant lies on Chromosome 2 and affects the gene UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Gilbert syndrome
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5714
A mutation in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Crigler-Najjar syndrome, type II
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5715
A genetic alteration is present in UGT1A5, UGT1A6, UGT1A7, UGT1A, UGT1A8, UGT1A9, UGT1A10, UGT1A3, UGT1A4, UGT1A1 (UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Bilirubin, serum level of, quantitative trait locus 1
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
CTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGGAGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTCCTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACCAGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTGTACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCTCAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCGAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAAT
Task1_train_5716
Chromosome 2 houses a mutation in gene UGT1A, UGT1A5, UGT1A7, UGT1A8, UGT1A9, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A6 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Crigler-Najjar syndrome
AGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCA
AGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTTCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCA
Task1_train_5717
The gene UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not specified
GAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGC
GAGTCAGACCGCTCAGTGGCCCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCTTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGC
Task1_train_5718
Here is a mutation in UGT1A3, UGT1A, UGT1A1, UGT1A10, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Crigler-Najjar syndrome
GGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAA
GGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTTCTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTCCGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGGCACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATGCCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCTACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTGTATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATGTGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAATTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATATTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATTCATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTAGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAAGATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAATTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTTTGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACACTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAATGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTATGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCAGGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTGTAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCCCACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAATCATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGTTGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAAGGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAACCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAACCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGTTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATATGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTTTTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTAGCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCACCATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTGAGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCACTTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATTAGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGAAAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGCTTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATCACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGGCAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTATGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGTTTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGTGTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGACAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAGGGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGATAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGGGAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCTGGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCATGTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTCAGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCTTGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGAACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAACTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGAGCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAA
Task1_train_5719
This is a variant in UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 (UDP glucuronosyltransferase family 1 member A complex locus| UDP glucuronosyltransferase family 1 member A1| UDP glucuronosyltransferase family 1 member A10| UDP glucuronosyltransferase family 1 member A3| UDP glucuronosyltransferase family 1 member A4| UDP glucuronosyltransferase family 1 member A5| UDP glucuronosyltransferase family 1 member A6| UDP glucuronosyltransferase family 1 member A7| UDP glucuronosyltransferase family 1 member A8| UDP glucuronosyltransferase family 1 member A9), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; not provided
AAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAAGTTCTGGCCAGGTACGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCGAAACCAACCTGACCAACATGAAGAAACCTTATCTCTACCAAAAAAATATAAAAAAATTACCCAGGCATGGTGGTGTATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTTACTTAAAAAAAAAAAAAAGAAGGTTCCAAGAAAATTCATCTTAAGGTTTATGTAAAAGGAAGATGATATTTAACATGATTCATGGCCAAGTACTAATATTACATTATAATAATGTTTCCAAATAACATTATAGATATGTTTAAAGACAGTGTATTAGGCTGTTCTTGCATTGCTGTAAAGAAATACCCAAGACTGGGTAATTTATAAAGAAAAGAGGTTTCATTGGCTCGTGTTTCTGCAGGCTGTACAGGAAGCTTAGTGCTGACATCACTTGGCTGCCGGGGGAACCTCAGGGAGCTTTTACTCATGGCAGAAGGCAATGCGGGAGCTTGCATGTCACATGGCAAAAGCAGGAGCGAGAGAGAGTTGGGGGGGAAGGTGCCACACACTTTTTAATGACCGGCTCTCACAATAACTCATGAAAACTCACTATCAGGAAGACAGCACTAAAGCACAAGGGATCCGACCCCATGATCCAAACACCTCCCACCAGGCCCCATCTCCAGCACTGGGGATTACAATTCAACATGAGATCTGAGTGTGGACAAATATCCAAACTGTATCAGTCAACAGCGATCATAATTAGTCCTGAATAGGAGTGCCTTTTTTTTTCTTTCTTCTCCCTTTTCTTTTCTACTTCCTCCTCCTTTTCCCTCTCCTCTTCAATCTCCTCTTCATTCCTGTAGCACCAAGGGTTGAAGCACCTAACCCGTTTTGGATTGAGATGTTCTGATTGGGCAATGAACACTGTCCAGAATAAACAGAAATCCATTTTGCACTAAGTGGCTGCACAGACCCTGCCTCATGCTAAATCTAGCACCCAGATAGTTTAATGTTTCAATGACTGAATTACAAATATATCATCACCTTGGATTTGGCACTTACAAATGGCTGTTAATTTGGCCAGAGGTGGTTGTTTACAACTTCAAATAGGAGACTATTCATAATTTCTGACGTGACATTTTCCTTTCTTTATTTTACTGTATGAAAATATAATGAAATTTCTCACAAAATATCACTAAAAAGAAAAGAAGAAGAGTAGGAAGCAAGGTTAAAATATTTCTAAAATATAATTTTGGTCTTTCTTTTTCTCCCTTCCTTCCTCCGTCCCTCTCTCCTTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTTGCTTCCTTCCCTCCTTCTCTTCCTTCTTTTTCAAGAGATCAATAACATTTATTAAGAATAAGTTTCTTAATTATAACCTTTCAGGTGATAATAGTAACACAGCCTGGGCAACACAATAAGACCTTGTTTCTACAAAAAATTTAAAAATTGGCCAGACATAGTGGTGCATGACTAATTCCAGCTACTCTGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTGGAGGCTGCAGTTAGCCATGCTTGTGCCACTACACTCCAGCCCGGGCAACAGGGCAAGACTCTGTATCTAAAAACAACAACAACAACAATAATAGAAACAGGTTTCCTTTCCCAAGTTTGGAAAATCTGGTAGTCTTCTTAAGCAGCCATGAGCATAAAGAGAGGATTGTTCATACCACAGGTGTTCCAGGCATAACGAAACTGTCTTTGTGTTTAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCTGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTTAAGTGTTTTCACTGGTGTCGCATTTATTTCTTGTTAAGTTGCATTTTCTAATTACAAAAGTAATGCATGATTATGACAGAAAGTTTGGAAAATATAGAGGTTCACACACACACGCCTTCATTGCGTGTGCATGCATAAATGCATGAGAAAAGAAAAATAACCAGTAATCACATCGCCCAGAAATAACCCCAGTTACAATTGTGGCAAATACACATACTTATAAATATTGCAGATATATTAAGTATACCTAGTATTTGCTAACACTCTTTCTTCTACTCTGTCATGAAGATTCTCCCAAGGTGTTTTTGTATAATATTTAATTCATTTTCAGTGGCCAAGCAGTATTCTACTTCATGGATATACCAGGATTTATTTAACCATAACTTCTGGTTGGATTCACTCTTATTATTTTGTTTAATTAAAAAAAAAAGACCTCGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGATCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGTGTGGTTGCCAGCACCTGTAATTCCAGCTAATTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGTCAGGGGGTTCGGAGGTCGGAGGTTGCAGTGAGTCCGGATCATGCCACTGCATTCCAGCCTGGGTGACACAGCCAGACTCTGTCTCAAAAACAACAACAACAACAAAACAACAACAACAACAACAACAAAAATCTCACTGGACATCCTAGTAGCTAAGGCTTTCCACATATTCATGATTACTTCTGTTGGAAAGTGCTTTACAACAAATTGCTAGTTGTCTCAGTCTGGGTTCCCCTGAGATGAGGATTCAAGGGCCAGGAGTTTATTTAGGAAGTAAAGGAAACACTGATAGAGGAGTGGCAGAGTGAGAAGGGGTGATGGTCATCCACAGCTGGCTCTCTTGTGGTCAATCGGAGCTTAATCCTGCTGGGTGACTCTGGGAGCCAGTGGAGAAAAGACACCCCAGACTTATCCCAATGAGGAACACGGCTGTT
AAAATTTTCAAACATCAGTTTATGCTGACAACCAGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAAGTTCTGGCCAGGTACGGTGGCTCATGCCTGTAGTCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCGAAACCAACCTGACCAACATGAAGAAACCTTATCTCTACCAAAAAAATATAAAAAAATTACCCAGGCATGGTGGTGTATGCCTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTTACTTAAAAAAAAAAAAAAGAAGGTTCCAAGAAAATTCATCTTAAGGTTTATGTAAAAGGAAGATGATATTTAACATGATTCATGGCCAAGTACTAATATTACATTATAATAATGTTTCCAAATAACATTATAGATATGTTTAAAGACAGTGTATTAGGCTGTTCTTGCATTGCTGTAAAGAAATACCCAAGACTGGGTAATTTATAAAGAAAAGAGGTTTCATTGGCTCGTGTTTCTGCAGGCTGTACAGGAAGCTTAGTGCTGACATCACTTGGCTGCCGGGGGAACCTCAGGGAGCTTTTACTCATGGCAGAAGGCAATGCGGGAGCTTGCATGTCACATGGCAAAAGCAGGAGCGAGAGAGAGTTGGGGGGGAAGGTGCCACACACTTTTTAATGACCGGCTCTCACAATAACTCATGAAAACTCACTATCAGGAAGACAGCACTAAAGCACAAGGGATCCGACCCCATGATCCAAACACCTCCCACCAGGCCCCATCTCCAGCACTGGGGATTACAATTCAACATGAGATCTGAGTGTGGACAAATATCCAAACTGTATCAGTCAACAGCGATCATAATTAGTCCTGAATAGGAGTGCCTTTTTTTTTCTTTCTTCTCCCTTTTCTTTTCTACTTCCTCCTCCTTTTCCCTCTCCTCTTCAATCTCCTCTTCATTCCTGTAGCACCAAGGGTTGAAGCACCTAACCCGTTTTGGATTGAGATGTTCTGATTGGGCAATGAACACTGTCCAGAATAAACAGAAATCCATTTTGCACTAAGTGGCTGCACAGACCCTGCCTCATGCTAAATCTAGCACCCAGATAGTTTAATGTTTCAATGACTGAATTACAAATATATCATCACCTTGGATTTGGCACTTACAAATGGCTGTTAATTTGGCCAGAGGTGGTTGTTTACAACTTCAAATAGGAGACTATTCATAATTTCTGACGTGACATTTTCCTTTCTTTATTTTACTGTATGAAAATATAATGAAATTTCTCACAAAATATCACTAAAAAGAAAAGAAGAAGAGTAGGAAGCAAGGTTAAAATATTTCTAAAATATAATTTTGGTCTTTCTTTTTCTCCCTTCCTTCCTCCGTCCCTCTCTCCTTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTTGCTTCCTTCCCTCCTTCTCTTCCTTCTTTTTCAAGAGATCAATAACATTTATTAAGAATAAGTTTCTTAATTATAACCTTTCAGGTGATAATAGTAACACAGCCTGGGCAACACAATAAGACCTTGTTTCTACAAAAAATTTAAAAATTGGCCAGACATAGTGGTGCATGACTAATTCCAGCTACTCTGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTGGAGGCTGCAGTTAGCCATGCTTGTGCCACTACACTCCAGCCCGGGCAACAGGGCAAGACTCTGTATCTAAAAACAACAACAACAACAATAATAGAAACAGGTTTCCTTTCCCAAGTTTGGAAAATCTGGTAGTCTTCTTAAGCAGCCATGAGCATAAAGAGAGGATTGTTCATACCACAGGTGTTCCAGGCATAACGAAACTGTCTTTGTGTTTAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCCGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCTGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCTACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTTAAGTGTTTTCACTGGTGTCGCATTTATTTCTTGTTAAGTTGCATTTTCTAATTACAAAAGTAATGCATGATTATGACAGAAAGTTTGGAAAATATAGAGGTTCACACACACACGCCTTCATTGCGTGTGCATGCATAAATGCATGAGAAAAGAAAAATAACCAGTAATCACATCGCCCAGAAATAACCCCAGTTACAATTGTGGCAAATACACATACTTATAAATATTGCAGATATATTAAGTATACCTAGTATTTGCTAACACTCTTTCTTCTACTCTGTCATGAAGATTCTCCCAAGGTGTTTTTGTATAATATTTAATTCATTTTCAGTGGCCAAGCAGTATTCTACTTCATGGATATACCAGGATTTATTTAACCATAACTTCTGGTTGGATTCACTCTTATTATTTTGTTTAATTAAAAAAAAAAGACCTCGGCTGGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGATCGGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGTGTGGTTGCCAGCACCTGTAATTCCAGCTAATTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGTCAGGGGGTTCGGAGGTCGGAGGTTGCAGTGAGTCCGGATCATGCCACTGCATTCCAGCCTGGGTGACACAGCCAGACTCTGTCTCAAAAACAACAACAACAACAAAACAACAACAACAACAACAACAAAAATCTCACTGGACATCCTAGTAGCTAAGGCTTTCCACATATTCATGATTACTTCTGTTGGAAAGTGCTTTACAACAAATTGCTAGTTGTCTCAGTCTGGGTTCCCCTGAGATGAGGATTCAAGGGCCAGGAGTTTATTTAGGAAGTAAAGGAAACACTGATAGAGGAGTGGCAGAGTGAGAAGGGGTGATGGTCATCCACAGCTGGCTCTCTTGTGGTCAATCGGAGCTTAATCCTGCTGGGTGACTCTGGGAGCCAGTGGAGAAAAGACACCCCAGACTTATCCCAATGAGGAACACGGCTGTT
Task1_train_5720
Here is a genetic alteration in ACKR3 (atypical chemokine receptor 3) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Oculomotor-abducens synkinesis
TGACCCTTGTCCTTGATCCTCCAGGAAATTCTCATATGTAACCTGGAATCCACTTTAAATGAACTCGGTAAATAATGTCTTGACTCTAGGCCAGTCATTACCTGGGACAGGTGAGGGGGAAGGGCAACCACCTGACTATGTCACTGTCAACAGTGCATCCTTGGGCTGAGGTTTTCATTTTACAGTGGGGTTCAGGCAGGGCTAATTGCTGACCCAGGACTGTGGCCTGGAGGGATTTCAGGGCCTTCCCATGGGCGGACTGACAGTAGAAGACAGCCCCTGTCAGTCTATCTGAAGAAATCAGTGCCAGATAACAATGGTACCCCGTGGCTGAATTCTGGCTGGGAGTGAAATGGTGATGGAGTGTTGGTCTCACCTCAGGTCAGCAGGGAAAACAGTTGGGAAAATGGTCAGCCCTCCTGAAATGCAGCAGGTGGTGATTTTTGTGTTTTGAGTCTTGGCACACCTTGCTGTTGAAGCAGTTGAACAAATAAAGGAATGGAAAAACAGGTGCTGACCCAAAGCTTGAGACAGCTGGTTGGTTGCCCTTCGTTGAAAACCACACGGCCAACCCAGAGTCTTCAGGTTTGGGGCGCAGTTAAGCTGTGGGGCACCCTGCGTAGGCTCACTGTGTTTCCAGAGGCTTTATGACTGCACACTGGGGCCGCCTGAGACCCAGGTTTATATGTGAATTTAGCAGACAAGTAAAAAGTGCTGAGTCACATTATAAATGCAAATTTGGAGGAGGATTTGAAATGCTTTCATTAAGACACCAAAGCAGGACACTTGTAATACAGCAGTGCCAGGAGAGGACAACCCTGCCATTCTTTGGGGACCTAGATAAAATGGCTCCACTGTCCCCTGCTGAGAGTGAGCAGGCCATCAGCATCGCGGTGGCCGGGGCTCAGCTGCCTGACGTTTCTTTGGCCCCTGTACTGTGTTGATTTCACACACTGGGCACAGCCATGCTGGCGGTGTCTTGAGAACACAGCCATGAAAAGATGGAGAAAGCAAACACAGTTTCTGTCTTGGAGCACCACATGGATTTAGATTCAGAGTATGATTTATTTTGTTTTGGAGAGTTTTATTATGAATTTTTTTTCTCCCTTCTTTGCAAAGACATTACAGAGCTAAACCCAAACAGCTGAGCCTATCAGGGCCTTGGAAAAGCATTTTTGCCTGAAACTTGAGTTTTTCCTAATGAAGTGACTTTCCTCTTCCATCTTTTTTGTTTGCTTGGTTTTCTCATAGGTCATTTGATTGCCCGCCTCAGAACGATGGATCTGCATCTCTTCGACTACTCAGAGCCAGGGAACTTCTCGGACATCAGCTGGCCATGCAACAGCAGCGACTGCATCGTGGTGGACACGGTGATGTGTCCCAACATGCCCAACAAAAGCGTCCTGCTCTACACGCTCTCCTTCATTTACATTTTCATCTTCGTCATCGGCATGATTGCCAACTCCGTGGTGGTCTGGGTGAATATCCAGGCCAAGACCACAGGCTATGACACGCACTGCTACATCTTGAACCTGGCCATTGCCGACCTGTGGGTTGTCCTCACCATCCCAGTCTGGGTGGTCAGTCTCGTGCAGCACAACCAGTGGCCCATGGGCGAGCTCACGTGCAAAGTCACACACCTCATCTTCTCCATCAACCTCTTCGGCAGCATTTTCTTCCTCACGTGCATGAGCGTGGACCGCTACCTCTCCATCACCTACTTCACCAACACCCCCAGCAGCAGGAAGAAGATGGTACGCCGTGTCGTCTGCATCCTGGTGTGGCTGCTGGCCTTCTGCGTGTCTCTGCCTGACACCTACTACCTGAAGACCGTCACGTCTGCGTCCAACAATGAGACCTACTGCCGGTCCTTCTACCCCGAGCACAGCATCAAGGAGTGGCTGATCGGCATGGAGCTGGTCTCCGTTGTCTTGGGCTTTGCCGTTCCCTTCTCCATTATCGCTGTCTTCTACTTCCTGCTGGCCAGAGCCATCTCGGCGTCCAGTGACCAGGAGAAGCACAGCAGCCGGAAGATCATCTTCTCCTACGTGGTGGTCTTCCTTGTCTGCTGGCTGCCCTACCACGTGGCGGTGCTGCTGGACATCTTCTCCATCCTGCACTACATCCCTTTCACCTGCCGGCTGGAGCACGCCCTCTTCACGGCCCTGCATGTCACACAGTGCCTGTCGCTGGTGCACTGCTGCGTCAACCCTGTCCTCTACAGCTTCATCAATCGCAACTACAGGTACGAGCTGATGAAGGCCTTCATCTTCAAGTACTCGGCCAAAACAGGGCTCACCAAGCTCATCGATGCCTCCAGAGTCTCAGAGACGGAGTACTCTGCCTTGGAGCAGAGCACCAAATGATCTGCCCTGGAGAGGCTCTGGGACGGGTTTACTTGTTTTTGAACAGGGTGATGGGCCCTATGGTTTTCTAGAGCAAAGCAAAGTAGCTTCGGGTCTTGATGCTTGAGTAGAGTGAAGAGGGGAGCACGTGCCCCCTGCATCCATTCTCTCTTTCTCTTGATGACGCAGCTGTCATTTGGCTGTGCGTGCTGACAGTTTTGCAACAGGCAGAGCTGTGTCGCACAGCAGTGCTGTGCGTCAGAGCCAGCTGAGGACAGGCTTGCCTGGACTTCTGTAAGATAGGATTTTCTGTGTTTCCTGAATTTTTTATATGGTGATTTGTATTTAAATTTTAAGACTTTATTTTCTCACTATTGGTGTACCTTATAAATGTATTTGAAAGTTAAATATATTTTAAATATTGTTTGGGAGGCATAGTGCTGACATATATTCAGAGTGTTGTAGTTTTAAGGTTAGCGTGACTTCAGTTTTGACTAAGGATGACACTAATTGTTAGCTGTTTTGAAATTATATATATATAAATATATATAAATATATAAATATATGCCAGTCTTGGCTGAAATGTTTTATTTACCATAGTTTTATATCTGTGTGGTGTTTTGTACCGGCACGGGATATGGAACGAAAACTGCTTTGTAATGCAGTTTGTGACATTAATAGTATTGTAAAGTTACATTTTAAAATAAACAAAAAACTGTTCTGGACTGCAAATCTGCACACACAACGAACAGTTGCATTTCAGAGAGTTCTCTCAATTTGTAAGTTATTTTTTTTTAATAAAGATTTTTGTTTCCTAAAAATGCATCAAGTCTCAGTTTTCAAAGTGTGTTTTGGCACTTGAATAGCACACATGATAATAATTCATGGATATATATGGCACACACAGGCCACCTGCATGAACATGCTCAGAAAAAGAGTGCTGCTGTAAAGCAAAAGCTACCAGGTTAACTTGTTTGAAATGATATAAAAAGAAAAAATCATTTGAGCACACTGCATGGTTTTTAAAAAAATTTTCAGGCAATAGTGTTTTTGGTGTGGGGGATGATTGCTAGGGTCCAGCTAGGAGAGAAGGCTGGCACAGAGAAGGTGCCACTTGCTTCTACTTCCTGCTGGCCAGAGCCATCTCTGTTCTGAACCTGTCTGAACTCTCCGTCCAGACAGGAGAGTTTCAGGGTGCAGGACTGGTGTCCTCATCTGTACCACCTGTGTGCTTCCAGGGCCAGTGGCACAGCCCCTTAAATCTCATCTGCTAAGGTAAACACCTCCAGGGGCAATATTTCCTATTGAGAGTTTTCATTTAAACCATGCCAATCAGCTACCCCCTTGAGGCCACACAATGAGCGAATCCCCAGCTTGCGCATGTCCTTACTAGTGGTTGGAAAGAGTGCTCTCAGAATGGCCAGTTCCTGCTGTGCCCTCTCTAACTCTACCTGGAGCCACAAGAATGGCGGAGACTTCAACAGACGAGTCAGCTGGGCAGGGGCTCAGAGAGGGGCTGGGCTCCCAGCACTGCCCTCACCACCTCCACCTCTGCCAAGACCTCTCTGCACAGAGAGCTGTTTGCCAACCCAAAGGCAGACCCAGATGCTCGTCTGACCTGTGGGCTTGGGCGCTGCTGCTAGGTTGGAAAGCACCTTGTGCAAGTCCTTGCCCCACAGACCCACAATGGGCAGCCCTGCAGTCCCCAGGGGCCCATAGACCGAGTGCACTACAGGGGAATCCTATTTCCT
TGACCCTTGTCCTTGATCCTCCAGGAAATTCTCATATGTAACCTGGAATCCACTTTAAATGAACTCGGTAAATAATGTCTTGACTCTAGGCCAGTCATTACCTGGGACAGGTGAGGGGGAAGGGCAACCACCTGACTATGTCACTGTCAACAGTGCATCCTTGGGCTGAGGTTTTCATTTTACAGTGGGGTTCAGGCAGGGCTAATTGCTGACCCAGGACTGTGGCCTGGAGGGATTTCAGGGCCTTCCCATGGGCGGACTGACAGTAGAAGACAGCCCCTGTCAGTCTATCTGAAGAAATCAGTGCCAGATAACAATGGTACCCCGTGGCTGAATTCTGGCTGGGAGTGAAATGGTGATGGAGTGTTGGTCTCACCTCAGGTCAGCAGGGAAAACAGTTGGGAAAATGGTCAGCCCTCCTGAAATGCAGCAGGTGGTGATTTTTGTGTTTTGAGTCTTGGCACACCTTGCTGTTGAAGCAGTTGAACAAATAAAGGAATGGAAAAACAGGTGCTGACCCAAAGCTTGAGACAGCTGGTTGGTTGCCCTTCGTTGAAAACCACACGGCCAACCCAGAGTCTTCAGGTTTGGGGCGCAGTTAAGCTGTGGGGCACCCTGCGTAGGCTCACTGTGTTTCCAGAGGCTTTATGACTGCACACTGGGGCCGCCTGAGACCCAGGTTTATATGTGAATTTAGCAGACAAGTAAAAAGTGCTGAGTCACATTATAAATGCAAATTTGGAGGAGGATTTGAAATGCTTTCATTAAGACACCAAAGCAGGACACTTGTAATACAGCAGTGCCAGGAGAGGACAACCCTGCCATTCTTTGGGGACCTAGATAAAATGGCTCCACTGTCCCCTGCTGAGAGTGAGCAGGCCATCAGCATCGCGGTGGCCGGGGCTCAGCTGCCTGACGTTTCTTTGGCCCCTGTACTGTGTTGATTTCACACACTGGGCACAGCCATGCTGGCGGTGTCTTGAGAACACAGCCATGAAAAGATGGAGAAAGCAAACACAGTTTCTGTCTTGGAGCACCACATGGATTTAGATTCAGAGTATGATTTATTTTGTTTTGGAGAGTTTTATTATGAATTTTTTTTCTCCCTTCTTTGCAAAGACATTACAGAGCTAAACCCAAACAGCTGAGCCTATCAGGGCCTTGGAAAAGCATTTTTGCCTGAAACTTGAGTTTTTCCTAATGAAGTGACTTTCCTCTTCCATCTTTTTTGTTTGCTTGGTTTTCTCATAGGTCATTTGATTGCCCGCCTCAGAACGATGGATCTGCATCTCTTCGACTACTCAGAGCCAGGGAACTTCTCGGACATCAGCTGGCCATGCAACAGCAGCGACTGCATCGTGGTGGACACGGTGATGTGTCCCAACATGCCCAACAAAAGCGTCCTGCTCTACACGCTCTCCTTCATTTACATTTTCATCTTCGTCATCGGCATGATTGCCAACTCCGTGGTGGTCTGGGTGAATATCCAGGCCAAGACCACAGGCTATGACACGCACTGCTACATCTTGAACCTGGCCATTGCCGACCTGTGGGTTGTCCTCACCATCCCAGTCTGGGTGGTCAGTCTCGTGCAGCACAACCAGTGGCCCATGGGCGAGCTCACGTGCAAAGTCACACACCTCATCTTCTCCATCAACCTCTTCGGCAGCATTTTCTTCCTCACGTGCATGAGCGTGGACCGCTACCTCTCCATCACCTACTTCACCAACACCCCCAGCAGCAGGAAGAAGATGGTACGCCGTGTCGTCTGCATCCTGGTGTGGCTGCTGGCCTTCTGCGTGTCTCTGCCTGACACCTACTACCTGAAGACCGTCACGTCTGCGTCCAACAATGAGACCTACTGCCGGTCCTTCTACCCCGAGCACAGCATCAAGGAGTGGCTGATCGGCATGGAGCTGGTCTCCGTTGTCTTGGGCTTTGCCGTTCCCTTCTCCATTATCGCTGTCTTCTACTTCCTGCTGGCCAGAGCCATCTCGGCGTCCAGTGACCAGGAGAAGCACAGCAGCCGGAAGATCATCTTCTCCTACATGGTGGTCTTCCTTGTCTGCTGGCTGCCCTACCACGTGGCGGTGCTGCTGGACATCTTCTCCATCCTGCACTACATCCCTTTCACCTGCCGGCTGGAGCACGCCCTCTTCACGGCCCTGCATGTCACACAGTGCCTGTCGCTGGTGCACTGCTGCGTCAACCCTGTCCTCTACAGCTTCATCAATCGCAACTACAGGTACGAGCTGATGAAGGCCTTCATCTTCAAGTACTCGGCCAAAACAGGGCTCACCAAGCTCATCGATGCCTCCAGAGTCTCAGAGACGGAGTACTCTGCCTTGGAGCAGAGCACCAAATGATCTGCCCTGGAGAGGCTCTGGGACGGGTTTACTTGTTTTTGAACAGGGTGATGGGCCCTATGGTTTTCTAGAGCAAAGCAAAGTAGCTTCGGGTCTTGATGCTTGAGTAGAGTGAAGAGGGGAGCACGTGCCCCCTGCATCCATTCTCTCTTTCTCTTGATGACGCAGCTGTCATTTGGCTGTGCGTGCTGACAGTTTTGCAACAGGCAGAGCTGTGTCGCACAGCAGTGCTGTGCGTCAGAGCCAGCTGAGGACAGGCTTGCCTGGACTTCTGTAAGATAGGATTTTCTGTGTTTCCTGAATTTTTTATATGGTGATTTGTATTTAAATTTTAAGACTTTATTTTCTCACTATTGGTGTACCTTATAAATGTATTTGAAAGTTAAATATATTTTAAATATTGTTTGGGAGGCATAGTGCTGACATATATTCAGAGTGTTGTAGTTTTAAGGTTAGCGTGACTTCAGTTTTGACTAAGGATGACACTAATTGTTAGCTGTTTTGAAATTATATATATATAAATATATATAAATATATAAATATATGCCAGTCTTGGCTGAAATGTTTTATTTACCATAGTTTTATATCTGTGTGGTGTTTTGTACCGGCACGGGATATGGAACGAAAACTGCTTTGTAATGCAGTTTGTGACATTAATAGTATTGTAAAGTTACATTTTAAAATAAACAAAAAACTGTTCTGGACTGCAAATCTGCACACACAACGAACAGTTGCATTTCAGAGAGTTCTCTCAATTTGTAAGTTATTTTTTTTTAATAAAGATTTTTGTTTCCTAAAAATGCATCAAGTCTCAGTTTTCAAAGTGTGTTTTGGCACTTGAATAGCACACATGATAATAATTCATGGATATATATGGCACACACAGGCCACCTGCATGAACATGCTCAGAAAAAGAGTGCTGCTGTAAAGCAAAAGCTACCAGGTTAACTTGTTTGAAATGATATAAAAAGAAAAAATCATTTGAGCACACTGCATGGTTTTTAAAAAAATTTTCAGGCAATAGTGTTTTTGGTGTGGGGGATGATTGCTAGGGTCCAGCTAGGAGAGAAGGCTGGCACAGAGAAGGTGCCACTTGCTTCTACTTCCTGCTGGCCAGAGCCATCTCTGTTCTGAACCTGTCTGAACTCTCCGTCCAGACAGGAGAGTTTCAGGGTGCAGGACTGGTGTCCTCATCTGTACCACCTGTGTGCTTCCAGGGCCAGTGGCACAGCCCCTTAAATCTCATCTGCTAAGGTAAACACCTCCAGGGGCAATATTTCCTATTGAGAGTTTTCATTTAAACCATGCCAATCAGCTACCCCCTTGAGGCCACACAATGAGCGAATCCCCAGCTTGCGCATGTCCTTACTAGTGGTTGGAAAGAGTGCTCTCAGAATGGCCAGTTCCTGCTGTGCCCTCTCTAACTCTACCTGGAGCCACAAGAATGGCGGAGACTTCAACAGACGAGTCAGCTGGGCAGGGGCTCAGAGAGGGGCTGGGCTCCCAGCACTGCCCTCACCACCTCCACCTCTGCCAAGACCTCTCTGCACAGAGAGCTGTTTGCCAACCCAAAGGCAGACCCAGATGCTCGTCTGACCTGTGGGCTTGGGCGCTGCTGCTAGGTTGGAAAGCACCTTGTGCAAGTCCTTGCCCCACAGACCCACAATGGGCAGCCCTGCAGTCCCCAGGGGCCCATAGACCGAGTGCACTACAGGGGAATCCTATTTCCT
Task1_train_5721
This variant affects gene LOC122889011, COL6A3 (Sharpr-MPRA regulatory region 1020| collagen type VI alpha 3 chain) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
Pathogenic; Bethlem myopathy 1A
CCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGTCTGCAGGACAGTTGCACACTTTGCAGGATGCACCGGACTTCAGTACACTCCCACCTCTACAAGCCTTTGGCTTAACAAGCACCTTCCGTAAATATCTAAGAGGCACAGATTCTGCTGAGAAGCCCCACTTGGCAAGGGTCACTCTGGTTCCCCACGGAGACTTCCTTCACGGGGACTCTGCTGCTAATCTTAGGCTACGTTGCAGTGTTAAAGGCCACGTCTTTGGCCTCTGTGGCTGCTGATGAGCCGAGAAGTGTGTCCTTTCTCTTGCCCTCAGTACAGGGAGAGTCTAGGAATGTGCAGCACCTTACCATGGGGCCGAGGTCACCGGTTTCTCCTTTGGGTCCTCTCTCCTGGCTGTCTTGTCCTGGGTTACCCTGAAAGCAACATGGGAAAGGGAAATGAGCCACATATGGAAGGAAAGCAGCTGCCACTGGACTGGATGGTCAGGGAAATATTAGCAAGGACCTGCATGCAAGGCTTCGAGGGACAAGCCCTTCGGCCACAACCCATCCAGGTAACATCCATGCAGGTCTTACGAAACCCAATCACGGGATCAGCAAAGCACTCTTAGCCCCAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGA
CCCAAAGCCCTAATGGCACTCACATTCTTCCCAGTTTCTCCAGGTCCTCCAGGTACTCCATCTCTCCCTGGGACACCCTGGTGTGGGGAAAATTAGCATGAGATTCTCATCTGCAGAGAAGAATGTCTAGCTCTGAAATGCTGCACAAGACATTGCAGGGAAAGGGGTCGATTCACAGAGGAAGAGCCCGTCTGCAGGACAGTTGCACACTTTGCAGGATGCACCGGACTTCAGTACACTCCCACCTCTACAAGCCTTTGGCTTAACAAGCACCTTCCGTAAATATCTAAGAGGCACAGATTCTGCTGAGAAGCCCCACTTGGCAAGGGTCACTCTGGTTCCCCACGGAGACTTCCTTCACGGGGACTCTGCTGCTAATCTTAGGCTACGTTGCAGTGTTAAAGGCCACGTCTTTGGCCTCTGTGGCTGCTGATGAGCCGAGAAGTGTGTCCTTTCTCTTGCCCTCAGTACAGGGAGAGTCTAGGAATGTGCAGCACCTTACCATGGGGCCGAGGTCACCGGTTTCTCCTTTGGGTCCTCTCTCCTGGCTGTCTTGTCCTGGGTTACCCTGAAAGCAACATGGGAAAGGGAAATGAGCCACATATGGAAGGAAAGCAGCTGCCACTGGACTGGATGGTCAGGGAAATATTAGCAAGGACCTGCATGCAAGGCTTCGAGGGACAAGCCCTTCGGCCACAACCCATCCAGGTAACATCCATGCAGGTCTTACGAAACCCAATCACGGGATCAGCAAAGCACTCTTAGCCCCAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCCTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGA
Task1_train_5722
Here is a variant affecting COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Bethlem myopathy 1A
CAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCC
CAAACAGGTGCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGTCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCC
Task1_train_5723
This alteration in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Bethlem myopathy 1A
GCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAA
GCAATCGTTCTTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACAACAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAA
Task1_train_5724
This mutation occurs in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Bethlem myopathy 1A
TTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAA
TTCCCCAGGGAGGAGGATGCCCCAGGCTCACTCCTGCTTATCCTTGGCCACAGAGGCAGGATGGACTGGAAGAAGAGGCTAGCTTGTACTGCTCATTTGCTTAAACGTTTTACAGAGACACAAAATGAGAAAAGCTGCAAACTCTTCTCTTTTCCAAAAGCAAATTTGAAGTGCCCTGATACCACATTTTTGGAAACTTCTCAGATATTTGTATAACAGGACTTGCAAATGATTATCTGGTTAGCAAGAGAACCAACACATCTCCCCAAACCCCCAAACTGCAAGAAAAAGACAAAGCACATATTTTATCAACGTGTTTTAAAGCAATTTCAAAAGTAGAATTCTTCCTTTCATCCCCCTTTCCCAACAACCCTCTTCCCCAGGCTCAGGTCTGAAATCGTCAATAAAGAAATCTTTACCGGGTCCCCTCGAATCCCAACATCTCCTCTTTCTCCTTTCTCTCCTCGAGGTCCTTTATCACCCTAAAGAAAAAGCACAAGTGGATGCTAAAAACTAGATGTTTCCATTTTTATCTCACCCTAAAAATCACATTCTTCAACTCATAAATCTTAACTAGAACAATGTTTACAATTTACTCATTCACCATGAAGGCAAATTCACTTCCACATATTTTTCATTCGTTTAGTAAATCCATGAATATTTATTGGGGACCCACTTTGTGCCAGGCACTGGAGATTTATTTATAACAAAACAAACTCAGTCCCTGCCCTATGGGATGTGATCTCGAAACAAGAAAATGTACTGTAATGTGTCAGAGCTGAGAGGGGATGTAATGGGTGCACTCACAGGGGAGGTCAGGGAAGGCTGCCTGGAGGAAGCGGGCTTGATGTATATGAGGAAAGAAAATAACTATTCCCTAAATGAAATGTTGATATTCTTTCCATAATAGCACCACCGTGGAAATACACCTACCCTTCTTCCAGGATTCCCTTTCTCTCCAGAAGAACCAGGCAATCCTTTGTCTCCCTGCCAAAGACAAGGATTAAAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACTACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAA
Task1_train_5725
A genetic alteration is present in COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
AAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAA
AAGGTCACACCTGCTGCAATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCAGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAA
Task1_train_5726
Located on Chromosome 2, this mutation impacts COL6A3 (collagen type VI alpha 3 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; not provided
ATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAAGGTGTGGTATCTACACTG
ATTTCTATCACAGACTGAGTTGTTAGTTTCTGGAATCTTCAGAACCAAAAGCAGTTTGGACTTAGAGTAAAATCACTTACATCTTCACCATCCAGACCATCCAGTCCAATTTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGTATAGAAAGCTATTCTGGCAAAGGAAGAAATGAGAAATACTGGGAGAGTTTTCCATTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACACTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAAGGTGTGGTATCTACACTG
Task1_train_5727
Consider a variant on Chromosome 2 in gene COL6A3 (collagen type VI alpha 3 chain). Determine its clinical classification and disease relevance.
Pathogenic; Bethlem myopathy 1A
TCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACCTTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAAGGTGTGGTATCTACACTGGTCTGTGTATAAAGACATAAAAAAAACTCACAAGCTGCTCCGCTAGTTCATAATCCAAGTCCAGCAAGTTAAGCCTCAGGGGCCTGTCATACATAAACCCTCGCCCAAACTCCAGATGCATTAGCCGCTCCAAGTTGACCACTCGTTCAAGGCCCACCAGGATCAAGGCACGGACTCCTGCAAAGAAAGACACATTTAATACAGCTCACCTAGGCATGTGGAAAATGCAATGTCCTTTTTTCCTGACTACATTTTTAAAGAAAACTTCAGTGTAAAATTTAGCTTTTAACTTAAATATATTTAATCAAGTTTACTGGCTACTCTGAATTGTTGAAATACTCAAACTTTGGACTCTGCTGAATAATTGTTTCCGGTATGTCAATAACTAAACCTATTACTAAAAATATAGGAAGTGGCATCCATGAAGTGTATTCATGCATGAGTTCTCAAACTCAGGCCCTCTGTAACACGAGTATGCTGTGGGAAGTATTGAAATACTAACACCTCCAAAATCAGATAATAGCAGCCTCATCTCCATTGCTTGGGAAAAGTAAGCTAATAAATA
TCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCACCCTGTTGTGAGAGACAAAGGCATTTTGCAAGCTGGAGCCCTTCATCACCCTTTCTCTGCCGGGCTTGCAGCAGCGTAAAGGGTACTGTGAACAGCATGCAGCAGAAAGCAGATTTCACCATGGGGAACGCCGATCGAGGCTACGTGAGCCAGGGAGCCTCTTGGGCCCCTGCATGAGGCCTGGCCTGGAACCTGCAGTTTCCCTGAAGGGAATGAGATCTGGGAGGGTAGCAGCGCAGACAGCACTGCCCTGTGGGGCAAGGGTGGGTGGCCCCCAGCACTGTGTCTCTGTGGGTGCTGAATCCCGGGAAGACCCACCGGGCTGACAGCTCCTCCAAGTGATGCTTGATTCCCAGTTCTCTAGCCGAGCCCTGCCGGCTGGGCCCTGGTGACCACACTGTTCCTCGTGAGCCCCTCTGTCCCCTATCCCAGGGCTGGACCTTGATCTAGGGTCCCAAAGCTCCCCAGACAGGTGTCTGTCTTGGGCATTGCTCCCATGGACCCTGCTACTGGGGTCTGTCCATCCCCAAGACCCTCGGATACTGATGATCTGATCCAGCAACATCCCCTCCAGGGACTACCCTTAACGGGGTAACCCCTAAAGCCCTGGTGAGGTCTCCTGCTGTGTCCCTGCCCCTCAGCTCACTCCCATCTCTACTTGCATGTCTTAATCTAGTAGATACTGGGTGTGCAAATTCGGTGTCCCTCTGGCTCAGAAACCAATTAATCCCTCCTTCTGAAACAGAGTAAGAACAAATCCCACCCTTCATGCCCACATTTGTCATACTTCAATTATCGTACTTAGACATCCAGGCAAAGTTGTTAAGAAAAGTATAAATTAATTTTTCTCCCAAAGGGAAAGCCATCAGCAACTGAACAAATGATGAAATCCACAATGCAATCCCAATGGGTAAGGATCAAGGAGGGGGTGAAATTTTAGGGACTAAAACAATTTTTACTTACGGGTCCACCCTCATCACCAGGATAGCCTCGGTAGCCGTCTTCTCCAGGAATACCCTGAAACAAAGTAATCGGGTCCTCTGTTTAATCCCGTGGTCTTCTTTGCTCTACAGTAAGAATCCCTGTGGTCCCCCTTCATTTGGCAGAGCAGCACTAAAACTCAGCATGGCTTTCCCTGTTACTGCTTTTCCCCTCAGTACACCATGTCACGATTCTCTCTATCAGGATCTCTAAGGCTCCTGCTCTGCCAAGAAAGCCTGTTAGTTCCTACTGACTCAGAGCAAATGCTATGAGTTCCAGCTGCCATTCGCAGCCAGGCTGCTGTCAGGGACGCCAGCTGCCTTTAACATTATTTTATGAAATGAAGGACCAAGCTGTTAAAGCACAGATCCCCTTATCCTGTGCAAAAGGAGGGTCCCGCCTGAACCATCTTCACTGGAACAGGCCCCAGCAGAACAGCACGCAGGTCTGCCCCTCAGAGCTCCTCCTTCTAACATAAGAAATGGTCTCTCGTCTCCTCCTTCATCTCCACACTCTTCTGTTAGAGAAATTACCCCACCAAAGTAATGTCGGGCTTCTGACACCTCATCTCAGGCGTGGGCAAGGGTAAAGCCACCGTACATTTGGCCCGATGCTGCCGATGGGCCCGCGGTCTCCCCTCTGCCCAGAGCACTTGCAGGGAACCCCACAGCAAGCTTTCTCGGCAATGTTGTCCTACCGAAAGGAAGAGAAACCAAATGTTCAGATCTCAAGAAATGCCCAGCAGAAAATCATAAATGCGCTTTAAGGGTCAAAATCGGATGTGTGGGGGTTTCACGGTGTGAGATGAAGTCCCTCCAGGTGACATTTGCTGGACGACTGACGATATGATAGAAATTGCCAGCGAAGTCAGGAGGGCCCAGCTCCTGGCGGTCGGGGTGCAGATGGGAGGTCACCAATAGGAAAGTAAAGAACAACCAAAGTAAAATAGATCTTATCCACAATATCACTGCAGGCTGGACCTTATTTCTAGAAGTTTCCATCATCAGATCTTAACTATAACTTACATATGTTCCAGTTCCAAAGTGCAAAGCCAAGCAAATGGCAGATGGCCAAGACTGAAGGTGGTTCCAGAACAGATATCCATGACCACCCTTCCTTGGAACCAGGGTGAGAGTCATGGGATATGGTACCAGCCCAGAAAGAGGCTTCCAGAGCAGCCATGGTGGGAGCAGGCACAAGTGGTCCTGGCCTCGGAGCCAAAAGCTTCTCAACTCCAGGTCACACAGACACCCTCTACATTCTCATCCCATCTGGCCCCTGACCTTATGTGGGAAAGGGCATGCCCAAATACATTTCCATCTGCTAAACTAATGGTGGGCACATGCACTTTCTTCCAACGAGCTTCCAAGAGCTTTCCCTTTCTCCCATATCCCAGATTTGTGAGCTAACTCAACCTACTTCCACTAGGAAAAAAATCCTGATTCTAACCCTGCAAAGAAGTATGGAAGAAAGGAAGGTCCATTCCTCCCATTCTCATAGCCACAGTCCACTGTTGCTACCATCAAAGAATCTCTGAGTTCGCAGCTCAGCCCCACATCTTCCAAAAGCTCCATCCCCAGTCTAAACCCAGGAGGTCACACCTCCAGCTGAGAGAGGCTGGCCCTGGGGAGAATGAGGAAGCCTCAGAGGGAGCTTCATTGACACAGAGGGAAACTAGGGAGGGCAATTAAAGCACTTCTCCACCCAGAAACAGCCTTTCTTTTCCTGCATGTTGTTTTTATCATGCAAGATTTCAGATGCTCTTGACACAGTTTCCAATTGGAGGATGGACAATCTCGATGGTTTGCATCCCTGCAATGGTGTTAAAAGAGGCCGTTGCTAAGGGAGCAGAGAAAATGCTAAGGCCACAACCTCAGCGCGCCCAGGATCCCCTTCCAGCTCGCTGGATTTCCAGCGATTTGCTATCTCCATTTCCAGATTCACATGTGTTATGGCAACAAGGCAGTTCCCAAGTGAATTAAATAAATTTAACTATCTACCAAGGCCCCCCCCCCACCTCCATTCACCTGCTGATAATTAACTTCATTCTCTTGAAATGCCAAAAGGTGTGGTATCTACACTGGTCTGTGTATAAAGACATAAAAAAAACTCACAAGCTGCTCCGCTAGTTCATAATCCAAGTCCAGCAAGTTAAGCCTCAGGGGCCTGTCATACATAAACCCTCGCCCAAACTCCAGATGCATTAGCCGCTCCAAGTTGACCACTCGTTCAAGGCCCACCAGGATCAAGGCACGGACTCCTGCAAAGAAAGACACATTTAATACAGCTCACCTAGGCATGTGGAAAATGCAATGTCCTTTTTTCCTGACTACATTTTTAAAGAAAACTTCAGTGTAAAATTTAGCTTTTAACTTAAATATATTTAATCAAGTTTACTGGCTACTCTGAATTGTTGAAATACTCAAACTTTGGACTCTGCTGAATAATTGTTTCCGGTATGTCAATAACTAAACCTATTACTAAAAATATAGGAAGTGGCATCCATGAAGTGTATTCATGCATGAGTTCTCAAACTCAGGCCCTCTGTAACACGAGTATGCTGTGGGAAGTATTGAAATACTAACACCTCCAAAATCAGATAATAGCAGCCTCATCTCCATTGCTTGGGAAAAGTAAGCTAATAAATA
Task1_train_5728
This mutation is located in gene COL6A3 (collagen type VI alpha 3 chain) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Bethlem myopathy 1C
AATTGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGCCCGCCAGGCTGTAGTACTTCATGATGATCCCTAGCAAACTCACATGGTGTGTGTGTCTACACAATATATATGCATGTATATACACACATGCATGCATGCACACATACACACAGAGAAATGAAAGTGGAGAACGTACCTGACTGGACTATAATTAAACATAAATCAATCACAAATTCAACTCATTCAAGTTAAACTACTGATTTCCAGGATTCTTTTAGAGCTTACGTAAGACTACCAAAATGAGGAAGACAGTACATGACATTAGATCAGTTAATAACTAAGGGATTTTCCATATAGACACTAACAATCCAGTGAAACATGAAGAGGATTTAACTTGGGGGAAGGGCTTCCTCCTTTCCAGTAAAAATTTGGAAATTTCCCAGGGAGCACCTGAACCAACTGGCCCCACAGACCTTCACGCTGTCCGGCGAGGACTGTCTGAACTTGTTCAGGTAGACCTTCAGGGTGTCCTCCGTGAGGACGTAGGGGTGCTGGCTGCGCATGTTCCGGAACTTCTCGAGCATCTCTGGCTGGTACTCGTCAAAGTCAAAGGCCTCCACCGGGCCCGAGGGCGTGTTGGCCACCACTGACACACGCACGGTGGGCGAGCGGCCACCGCTGCAGCTGACCCTGTGCATCTGGCTGATTCTGTTCAAGATGGCGTCCACCTTGGACTCGAAGCCCTTCTGGGCCACAAAAACATTCTGGTCTCTAGAACCATCAAACCCCAGAATCACATCCAGATTACAAGCTGGAAAGGAGAAATGCAGGTGATGAGTTCTCAGCTGGGGCTGAGGAGACGAACTCTACTTATACCAGCAGTAGGGACAACCCAGGCAGAGGACCAGGGCATCGCACTCAAGTGCAAAATGAGATCCTGTGTGTGTGAGCTTTGAGAAGCAATTCTATCCACCCCTCTCACAGAGAGAAATGAGGGTAGCTGTTAGGTGCCAAATAGTAAGCTATTTTAAAAAGTCAGCTTTGTTGGTGGTGTTAATTAACTTTGGTGTGATGATACACCACTGGTGTTTAGATGCACCCCAAGTTTGTGCTTTAAATTAAAAGCACTTGAAAATCAAATATTCTGATCTCAAATACTTGATCTAATAAATCTATAATTAGACACAGGAATCAATAAATCTGAATTGTTTGAGGGATTAAGGAATAGGGGAGAAAAGTAAATCTTATAAAAGCAAAATATGATAGACTTCTACTCTTGTCTTGGAAGAACGCCCTAGGTAGTGGTGAGGTGGGTGTCAGGACCAGTCCCAGTGGGTATAAGTAAATGTATGAAGCAACCAAATGCCTAAGGACTCCAGAGGTCAGCACCAGGGACCAGACAGCTAAAGAGGCACAAATGTCAACAGGAAAGGATGGAAAATATGCACATAATGGGAGTTACCTTTGGCAGCATCAGTTACACCAGGGCAAAGGGTTTCATGCATCGCATCATGCAAAGTTTCCAAAACTTGCTCGCTCAGTTCGGACAGCTCCTGGACGTTGCCCACGCGGAACGCTGTGGCGCTGTTGGACGCTATCTTTCCAACCTCCTCCGAGTCGATATTCCTCACTCCAACAGCAAACACTTTGACCCCCCTCTGGGTGAGGGCCAGGCTCACATCCTGTGCATCTTCCACCGACTTTCCTCCCGTGATCACAAAGGCAATCTGAGGGACCCGCTGGTCCAGGCGGCTGCCTGCCTCAGGCACAAAGTGGTTTACCCGCAGGTGCTCAAGGCCCACCTTAGTGTTGGCGTGTCTTCCCCCTTTGTAGACCACTTTGTTGATGGCGTCAATAATCTGCCTCTTGGTAGAGAAGTCCTTCAGGAAGAATTCGTCAGTGGGGTCAGAGTTGTACTGGACAAGCCCCACTTGGATGGAGTCGCCATCTTCATAAACTGTGTCCACTATTTCAGACACAAAACGAAGCACTTCCTGGAAACTGTCCCTCCTGAAGTTGATGGAACCATCCAACAGGAACACAATGTCTGCTTTCTTCTTCTCTAGAAGTGATTAAAGTGAAAATAAGGAGAGATTAGGTTTCCAGACCCAGAACATAAATACACAAAAGGTAAAATTAAATAACTGAAATAAGACATTCCTAATAATTTATTCACAGTGAAACCTTCACTCAAATCCATGCCTCTTTAGCCTGTAGTTCCTGAATTTGCAGCTCCCAAACATGCTAAATACAAGAAGATGAATGATAAATCCTCTAAACAAAAAGGAAAGGAGAAAAATTATTTGATGTCACACTCTGTGAAAACTCAGTGACAGAGAACTTCAGTTATCCCGTGCAAAATGGCATTGTGACAAGAATTCAATAGGGACCTGGCTTTGACATTTGTGATCTCAAGTGTTTTAGGAAATGCCACTAGAAGTTTCCTTTGTGGTCAAGAATTTTAAATAGTTCCTGGAAGTGAAGAGATGTGTGTGAGGTGCAAAGCAAGGAAGGACTAGGAGAAACAGATTGGAAAATAGGAAGAGGCCCCTTAACCTTTGGATGATGGTCTGAGAGCTTTGTAGGAGCTGGCTGAATATCAGTGGTGTGGAGGGTAATTTCTTGATTATAATTAAGCAACTGAGACTGGAATAGAGAGGAGAAAGGATGAGAGACAGTGTGAGGGATGTGAGATGTGCCACAGGCAGCCTGGTAGGGAGCAGTGAGCTAGGGAAACAGGCATACTGCTCCCCTTTGAAGAACCAACCCTAATGGTTTGCTTCAGATGTCTACATGGCGATTACTTGGAGGAGGGACAAAGAAAAATATGGGCTGGTGGAGAGATCCACTTTGCTTTTGCAGCCCCAAAGACGAGAACCAGGAGCACGGGGTAGAAGCTGAGGTGGACGACTGCAAGTCTTCCAGGAAGGTGCTCCCTGATGGTCCCACCAGGCCAAGGAATGAGGGGACCTGGACTATATTGGGCATCTGGCCAGTAGGCATGGGCCAACTTCAAAGTCACATTCAGTGGGGCATGGACTGGCTGATTTCAAAGATGCCATCCTATTCTGAGAGCCAATGAGTTTGTAATTATCTCAGTGCAACACTGCAGAACCTTTCAATGGGGCTATGATTAGTCTCAGGAGTGATGGAAGATCAATAATATGCTTCCTTCTGCAATTTCAATGGAACTACTTTTCCAGTATTTAATTTCTAATATTATCTGAAGAAACAACCCAGAGAGAAGAAAATTATTAAAAATGACTACTGATTACTTTTTTAACTAAAAAAAAAATGTTGATGTCACACTCTGTAGTCATGGGTCACACGGTGCATACCTGGCCGTGAAGGAGGAGGGGTGTCCACCCCTGGAGGTGCAGGAGTGGCTGCGGAGGGTCCAAACGAGTTCATGATTCTTTCTTCTATGTTGGGAAGCTCTCTGAACTCTCGCACTGTGAAGACCAGTCTGGGGTCATTGGTGATGGTCTGCAGCTCTGTTCTGTCGATGTTCCGGTCTCCTACCCCTAAACTCACAATGCCCGAGGAACGGATCACCTGGGCGAACCTGGACACATCGTCCTGGGATTTTCCACCCAGGACCAGGACCAGGTGTTGGGGCACCCCGTCTTCTATGCGACTCCCCGCAGACTTAACAAAGAGGTTTCTTGCCACAAATTCGAGAGCCTTGCCAGTGTTCAGTGGGGACCCCCCTCTGAGCCTCAGGCGCCGTATGGCGTCCAGCACCGGGGCCTGGGATCTGTAGGTTTTCAGATAGAATTCTGGGAAGACATCATTGCTGAACTGCACGACCCCAACTCTCACTTTACTGGGGC
AATTGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGCCCGCCAGGCTGTAGTACTTCATGATGATCCCTAGCAAACTCACATGGTGTGTGTGTCTACACAATATATATGCATGTATATACACACATGCATGCATGCACACATACACACAGAGAAATGAAAGTGGAGAACGTACCTGACTGGACTATAATTAAACATAAATCAATCACAAATTCAACTCATTCAAGTTAAACTACTGATTTCCAGGATTCTTTTAGAGCTTACGTAAGACTACCAAAATGAGGAAGACAGTACATGACATTAGATCAGTTAATAACTAAGGGATTTTCCATATAGACACTAACAATCCAGTGAAACATGAAGAGGATTTAACTTGGGGGAAGGGCTTCCTCCTTTCCAGTAAAAATTTGGAAATTTCCCAGGGAGCACCTGAACCAACTGGCCCCACAGACCTTCACGCTGTCCGGCGAGGACTGTCTGAACTTGTTCAGGTAGACCTTCAGGGTGTCCTCCGTGAGGACGTAGGGGTGCTGGCTGCGCATGTTCCGGAACTTCTCGAGCATCTCTGGCTGGTACTCGTCAAAGTCAAAGGCCTCCACCGGGCCCGAGGGCGTGTTGGCCACCACTGACACACGCACGGTGGGCGAGCGGCCACCGCTGCAGCTGACCCTGTGCATCTGGCTGATTCTGTTCAAGATGGCGTCCACCTTGGACTCGAAGCCCTTCTGGGCCACAAAAACATTCTGGTCTCTAGAACCATCAAACCCCAGAATCACATCCAGATTACAAGCTGGAAAGGAGAAATGCAGGTGATGAGTTCTCAGCTGGGGCTGAGGAGACGAACTCTACTTATACCAGCAGTAGGGACAACCCAGGCAGAGGACCAGGGCATCGCACTCAAGTGCAAAATGAGATCCTGTGTGTGTGAGCTTTGAGAAGCAATTCTATCCACCCCTCTCACAGAGAGAAATGAGGGTAGCTGTTAGGTGCCAAATAGTAAGCTATTTTAAAAAGTCAGCTTTGTTGGTGGTGTTAATTAACTTTGGTGTGATGATACACCACTGGTGTTTAGATGCACCCCAAGTTTGTGCTTTAAATTAAAAGCACTTGAAAATCAAATATTCTGATCTCAAATACTTGATCTAATAAATCTATAATTAGACACAGGAATCAATAAATCTGAATTGTTTGAGGGATTAAGGAATAGGGGAGAAAAGTAAATCTTATAAAAGCAAAATATGATAGACTTCTACTCTTGTCTTGGAAGAACGCCCTAGGTAGTGGTGAGGTGGGTGTCAGGACCAGTCCCAGTGGGTATAAGTAAATGTATGAAGCAACCAAATGCCTAAGGACTCCAGAGGTCAGCACCAGGGACCAGACAGCTAAAGAGGCACAAATGTCAACAGGAAAGGATGGAAAATATGCACATAATGGGAGTTACCTTTGGCAGCATCAGTTACACCAGGGCAAAGGGTTTCATGCATCGCATCATGCAAAGTTTCCAAAACTTGCTCGCTCAGTTCGGACAGCTCCTGGACGTTGCCCACGCGGAACGCTGTGGCGCTGTTGGACGCTATCTTTCCAACCTCCTCCGAGTCGATATTCCTCACTCCAACAGCAAACACTTTGACCCCCCTCTGGGTGAGGGCCAGGCTCACATCCTGTGCATCTTCCACCGACTTTCCTCCCGTGATCACAAAGGCAATCTGAGGGACCCGCTGGTCCAGGCGGCTGCCTGCCTCAGGCACAAAGTGGTTTACCCGCCGGTGCTCAAGGCCCACCTTAGTGTTGGCGTGTCTTCCCCCTTTGTAGACCACTTTGTTGATGGCGTCAATAATCTGCCTCTTGGTAGAGAAGTCCTTCAGGAAGAATTCGTCAGTGGGGTCAGAGTTGTACTGGACAAGCCCCACTTGGATGGAGTCGCCATCTTCATAAACTGTGTCCACTATTTCAGACACAAAACGAAGCACTTCCTGGAAACTGTCCCTCCTGAAGTTGATGGAACCATCCAACAGGAACACAATGTCTGCTTTCTTCTTCTCTAGAAGTGATTAAAGTGAAAATAAGGAGAGATTAGGTTTCCAGACCCAGAACATAAATACACAAAAGGTAAAATTAAATAACTGAAATAAGACATTCCTAATAATTTATTCACAGTGAAACCTTCACTCAAATCCATGCCTCTTTAGCCTGTAGTTCCTGAATTTGCAGCTCCCAAACATGCTAAATACAAGAAGATGAATGATAAATCCTCTAAACAAAAAGGAAAGGAGAAAAATTATTTGATGTCACACTCTGTGAAAACTCAGTGACAGAGAACTTCAGTTATCCCGTGCAAAATGGCATTGTGACAAGAATTCAATAGGGACCTGGCTTTGACATTTGTGATCTCAAGTGTTTTAGGAAATGCCACTAGAAGTTTCCTTTGTGGTCAAGAATTTTAAATAGTTCCTGGAAGTGAAGAGATGTGTGTGAGGTGCAAAGCAAGGAAGGACTAGGAGAAACAGATTGGAAAATAGGAAGAGGCCCCTTAACCTTTGGATGATGGTCTGAGAGCTTTGTAGGAGCTGGCTGAATATCAGTGGTGTGGAGGGTAATTTCTTGATTATAATTAAGCAACTGAGACTGGAATAGAGAGGAGAAAGGATGAGAGACAGTGTGAGGGATGTGAGATGTGCCACAGGCAGCCTGGTAGGGAGCAGTGAGCTAGGGAAACAGGCATACTGCTCCCCTTTGAAGAACCAACCCTAATGGTTTGCTTCAGATGTCTACATGGCGATTACTTGGAGGAGGGACAAAGAAAAATATGGGCTGGTGGAGAGATCCACTTTGCTTTTGCAGCCCCAAAGACGAGAACCAGGAGCACGGGGTAGAAGCTGAGGTGGACGACTGCAAGTCTTCCAGGAAGGTGCTCCCTGATGGTCCCACCAGGCCAAGGAATGAGGGGACCTGGACTATATTGGGCATCTGGCCAGTAGGCATGGGCCAACTTCAAAGTCACATTCAGTGGGGCATGGACTGGCTGATTTCAAAGATGCCATCCTATTCTGAGAGCCAATGAGTTTGTAATTATCTCAGTGCAACACTGCAGAACCTTTCAATGGGGCTATGATTAGTCTCAGGAGTGATGGAAGATCAATAATATGCTTCCTTCTGCAATTTCAATGGAACTACTTTTCCAGTATTTAATTTCTAATATTATCTGAAGAAACAACCCAGAGAGAAGAAAATTATTAAAAATGACTACTGATTACTTTTTTAACTAAAAAAAAAATGTTGATGTCACACTCTGTAGTCATGGGTCACACGGTGCATACCTGGCCGTGAAGGAGGAGGGGTGTCCACCCCTGGAGGTGCAGGAGTGGCTGCGGAGGGTCCAAACGAGTTCATGATTCTTTCTTCTATGTTGGGAAGCTCTCTGAACTCTCGCACTGTGAAGACCAGTCTGGGGTCATTGGTGATGGTCTGCAGCTCTGTTCTGTCGATGTTCCGGTCTCCTACCCCTAAACTCACAATGCCCGAGGAACGGATCACCTGGGCGAACCTGGACACATCGTCCTGGGATTTTCCACCCAGGACCAGGACCAGGTGTTGGGGCACCCCGTCTTCTATGCGACTCCCCGCAGACTTAACAAAGAGGTTTCTTGCCACAAATTCGAGAGCCTTGCCAGTGTTCAGTGGGGACCCCCCTCTGAGCCTCAGGCGCCGTATGGCGTCCAGCACCGGGGCCTGGGATCTGTAGGTTTTCAGATAGAATTCTGGGAAGACATCATTGCTGAACTGCACGACCCCAACTCTCACTTTACTGGGGC
Task1_train_5729
The gene COL6A3 (collagen type VI alpha 3 chain) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; not provided
TGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGCCCGCCAGGCTGTAGTACTTCATGATGATCCCTAGCAAACTCACATGGTGTGTGTGTCTACACAATATATATGCATGTATATACACACATGCATGCATGCACACATACACACAGAGAAATGAAAGTGGAGAACGTACCTGACTGGACTATAATTAAACATAAATCAATCACAAATTCAACTCATTCAAGTTAAACTACTGATTTCCAGGATTCTTTTAGAGCTTACGTAAGACTACCAAAATGAGGAAGACAGTACATGACATTAGATCAGTTAATAACTAAGGGATTTTCCATATAGACACTAACAATCCAGTGAAACATGAAGAGGATTTAACTTGGGGGAAGGGCTTCCTCCTTTCCAGTAAAAATTTGGAAATTTCCCAGGGAGCACCTGAACCAACTGGCCCCACAGACCTTCACGCTGTCCGGCGAGGACTGTCTGAACTTGTTCAGGTAGACCTTCAGGGTGTCCTCCGTGAGGACGTAGGGGTGCTGGCTGCGCATGTTCCGGAACTTCTCGAGCATCTCTGGCTGGTACTCGTCAAAGTCAAAGGCCTCCACCGGGCCCGAGGGCGTGTTGGCCACCACTGACACACGCACGGTGGGCGAGCGGCCACCGCTGCAGCTGACCCTGTGCATCTGGCTGATTCTGTTCAAGATGGCGTCCACCTTGGACTCGAAGCCCTTCTGGGCCACAAAAACATTCTGGTCTCTAGAACCATCAAACCCCAGAATCACATCCAGATTACAAGCTGGAAAGGAGAAATGCAGGTGATGAGTTCTCAGCTGGGGCTGAGGAGACGAACTCTACTTATACCAGCAGTAGGGACAACCCAGGCAGAGGACCAGGGCATCGCACTCAAGTGCAAAATGAGATCCTGTGTGTGTGAGCTTTGAGAAGCAATTCTATCCACCCCTCTCACAGAGAGAAATGAGGGTAGCTGTTAGGTGCCAAATAGTAAGCTATTTTAAAAAGTCAGCTTTGTTGGTGGTGTTAATTAACTTTGGTGTGATGATACACCACTGGTGTTTAGATGCACCCCAAGTTTGTGCTTTAAATTAAAAGCACTTGAAAATCAAATATTCTGATCTCAAATACTTGATCTAATAAATCTATAATTAGACACAGGAATCAATAAATCTGAATTGTTTGAGGGATTAAGGAATAGGGGAGAAAAGTAAATCTTATAAAAGCAAAATATGATAGACTTCTACTCTTGTCTTGGAAGAACGCCCTAGGTAGTGGTGAGGTGGGTGTCAGGACCAGTCCCAGTGGGTATAAGTAAATGTATGAAGCAACCAAATGCCTAAGGACTCCAGAGGTCAGCACCAGGGACCAGACAGCTAAAGAGGCACAAATGTCAACAGGAAAGGATGGAAAATATGCACATAATGGGAGTTACCTTTGGCAGCATCAGTTACACCAGGGCAAAGGGTTTCATGCATCGCATCATGCAAAGTTTCCAAAACTTGCTCGCTCAGTTCGGACAGCTCCTGGACGTTGCCCACGCGGAACGCTGTGGCGCTGTTGGACGCTATCTTTCCAACCTCCTCCGAGTCGATATTCCTCACTCCAACAGCAAACACTTTGACCCCCCTCTGGGTGAGGGCCAGGCTCACATCCTGTGCATCTTCCACCGACTTTCCTCCCGTGATCACAAAGGCAATCTGAGGGACCCGCTGGTCCAGGCGGCTGCCTGCCTCAGGCACAAAGTGGTTTACCCGCAGGTGCTCAAGGCCCACCTTAGTGTTGGCGTGTCTTCCCCCTTTGTAGACCACTTTGTTGATGGCGTCAATAATCTGCCTCTTGGTAGAGAAGTCCTTCAGGAAGAATTCGTCAGTGGGGTCAGAGTTGTACTGGACAAGCCCCACTTGGATGGAGTCGCCATCTTCATAAACTGTGTCCACTATTTCAGACACAAAACGAAGCACTTCCTGGAAACTGTCCCTCCTGAAGTTGATGGAACCATCCAACAGGAACACAATGTCTGCTTTCTTCTTCTCTAGAAGTGATTAAAGTGAAAATAAGGAGAGATTAGGTTTCCAGACCCAGAACATAAATACACAAAAGGTAAAATTAAATAACTGAAATAAGACATTCCTAATAATTTATTCACAGTGAAACCTTCACTCAAATCCATGCCTCTTTAGCCTGTAGTTCCTGAATTTGCAGCTCCCAAACATGCTAAATACAAGAAGATGAATGATAAATCCTCTAAACAAAAAGGAAAGGAGAAAAATTATTTGATGTCACACTCTGTGAAAACTCAGTGACAGAGAACTTCAGTTATCCCGTGCAAAATGGCATTGTGACAAGAATTCAATAGGGACCTGGCTTTGACATTTGTGATCTCAAGTGTTTTAGGAAATGCCACTAGAAGTTTCCTTTGTGGTCAAGAATTTTAAATAGTTCCTGGAAGTGAAGAGATGTGTGTGAGGTGCAAAGCAAGGAAGGACTAGGAGAAACAGATTGGAAAATAGGAAGAGGCCCCTTAACCTTTGGATGATGGTCTGAGAGCTTTGTAGGAGCTGGCTGAATATCAGTGGTGTGGAGGGTAATTTCTTGATTATAATTAAGCAACTGAGACTGGAATAGAGAGGAGAAAGGATGAGAGACAGTGTGAGGGATGTGAGATGTGCCACAGGCAGCCTGGTAGGGAGCAGTGAGCTAGGGAAACAGGCATACTGCTCCCCTTTGAAGAACCAACCCTAATGGTTTGCTTCAGATGTCTACATGGCGATTACTTGGAGGAGGGACAAAGAAAAATATGGGCTGGTGGAGAGATCCACTTTGCTTTTGCAGCCCCAAAGACGAGAACCAGGAGCACGGGGTAGAAGCTGAGGTGGACGACTGCAAGTCTTCCAGGAAGGTGCTCCCTGATGGTCCCACCAGGCCAAGGAATGAGGGGACCTGGACTATATTGGGCATCTGGCCAGTAGGCATGGGCCAACTTCAAAGTCACATTCAGTGGGGCATGGACTGGCTGATTTCAAAGATGCCATCCTATTCTGAGAGCCAATGAGTTTGTAATTATCTCAGTGCAACACTGCAGAACCTTTCAATGGGGCTATGATTAGTCTCAGGAGTGATGGAAGATCAATAATATGCTTCCTTCTGCAATTTCAATGGAACTACTTTTCCAGTATTTAATTTCTAATATTATCTGAAGAAACAACCCAGAGAGAAGAAAATTATTAAAAATGACTACTGATTACTTTTTTAACTAAAAAAAAAATGTTGATGTCACACTCTGTAGTCATGGGTCACACGGTGCATACCTGGCCGTGAAGGAGGAGGGGTGTCCACCCCTGGAGGTGCAGGAGTGGCTGCGGAGGGTCCAAACGAGTTCATGATTCTTTCTTCTATGTTGGGAAGCTCTCTGAACTCTCGCACTGTGAAGACCAGTCTGGGGTCATTGGTGATGGTCTGCAGCTCTGTTCTGTCGATGTTCCGGTCTCCTACCCCTAAACTCACAATGCCCGAGGAACGGATCACCTGGGCGAACCTGGACACATCGTCCTGGGATTTTCCACCCAGGACCAGGACCAGGTGTTGGGGCACCCCGTCTTCTATGCGACTCCCCGCAGACTTAACAAAGAGGTTTCTTGCCACAAATTCGAGAGCCTTGCCAGTGTTCAGTGGGGACCCCCCTCTGAGCCTCAGGCGCCGTATGGCGTCCAGCACCGGGGCCTGGGATCTGTAGGTTTTCAGATAGAATTCTGGGAAGACATCATTGCTGAACTGCACGACCCCAACTCTCACTTTACTGGGGCCGA
TGTGTCCCCTCAAAATTTGTATGTTAAGTCCTAAACCCCAGTACCGTAAGAATGGGACTGTATTTGGAGATAGGGTCTTTAAAGAGGTAATTAAGGTTAATGAGATCTTTAGAGTGAACCTTAATCTAGTATGACTGATGTCCTTTTAGAAGAGGAGATTTGGACACAGACATGCACAGAGAGAAAGCCATGTGGAGACACAGGGAGAAGACCCCTGCCTACAAGCCAAGCAGAGAAGACTCAGGAGAAACAGCCCTGCCGACACCTCGAGGATGTCAAGCCTCCAAGACTGTGAGAAAATAAATGTCTGTTCCAAAAGCCCGCCAGGCTGTAGTACTTCATGATGATCCCTAGCAAACTCACATGGTGTGTGTGTCTACACAATATATATGCATGTATATACACACATGCATGCATGCACACATACACACAGAGAAATGAAAGTGGAGAACGTACCTGACTGGACTATAATTAAACATAAATCAATCACAAATTCAACTCATTCAAGTTAAACTACTGATTTCCAGGATTCTTTTAGAGCTTACGTAAGACTACCAAAATGAGGAAGACAGTACATGACATTAGATCAGTTAATAACTAAGGGATTTTCCATATAGACACTAACAATCCAGTGAAACATGAAGAGGATTTAACTTGGGGGAAGGGCTTCCTCCTTTCCAGTAAAAATTTGGAAATTTCCCAGGGAGCACCTGAACCAACTGGCCCCACAGACCTTCACGCTGTCCGGCGAGGACTGTCTGAACTTGTTCAGGTAGACCTTCAGGGTGTCCTCCGTGAGGACGTAGGGGTGCTGGCTGCGCATGTTCCGGAACTTCTCGAGCATCTCTGGCTGGTACTCGTCAAAGTCAAAGGCCTCCACCGGGCCCGAGGGCGTGTTGGCCACCACTGACACACGCACGGTGGGCGAGCGGCCACCGCTGCAGCTGACCCTGTGCATCTGGCTGATTCTGTTCAAGATGGCGTCCACCTTGGACTCGAAGCCCTTCTGGGCCACAAAAACATTCTGGTCTCTAGAACCATCAAACCCCAGAATCACATCCAGATTACAAGCTGGAAAGGAGAAATGCAGGTGATGAGTTCTCAGCTGGGGCTGAGGAGACGAACTCTACTTATACCAGCAGTAGGGACAACCCAGGCAGAGGACCAGGGCATCGCACTCAAGTGCAAAATGAGATCCTGTGTGTGTGAGCTTTGAGAAGCAATTCTATCCACCCCTCTCACAGAGAGAAATGAGGGTAGCTGTTAGGTGCCAAATAGTAAGCTATTTTAAAAAGTCAGCTTTGTTGGTGGTGTTAATTAACTTTGGTGTGATGATACACCACTGGTGTTTAGATGCACCCCAAGTTTGTGCTTTAAATTAAAAGCACTTGAAAATCAAATATTCTGATCTCAAATACTTGATCTAATAAATCTATAATTAGACACAGGAATCAATAAATCTGAATTGTTTGAGGGATTAAGGAATAGGGGAGAAAAGTAAATCTTATAAAAGCAAAATATGATAGACTTCTACTCTTGTCTTGGAAGAACGCCCTAGGTAGTGGTGAGGTGGGTGTCAGGACCAGTCCCAGTGGGTATAAGTAAATGTATGAAGCAACCAAATGCCTAAGGACTCCAGAGGTCAGCACCAGGGACCAGACAGCTAAAGAGGCACAAATGTCAACAGGAAAGGATGGAAAATATGCACATAATGGGAGTTACCTTTGGCAGCATCAGTTACACCAGGGCAAAGGGTTTCATGCATCGCATCATGCAAAGTTTCCAAAACTTGCTCGCTCAGTTCGGACAGCTCCTGGACGTTGCCCACGCGGAACGCTGTGGCGCTGTTGGACGCTATCTTTCCAACCTCCTCCGAGTCGATATTCCTCACTCCAACAGCAAACACTTTGACCCCCCTCTGGGTGAGGGCCAGGCTCACATCCTGTGCATCTTCCACCGACTTTCCTCCCGTGATCACAAAGGCAATCTGAGGGACCCGCTGGTCCAGGCGGCTGCCTGCCTCAGGCACAAAGTGGTTTACCCGCAGGGGCTCAAGGCCCACCTTAGTGTTGGCGTGTCTTCCCCCTTTGTAGACCACTTTGTTGATGGCGTCAATAATCTGCCTCTTGGTAGAGAAGTCCTTCAGGAAGAATTCGTCAGTGGGGTCAGAGTTGTACTGGACAAGCCCCACTTGGATGGAGTCGCCATCTTCATAAACTGTGTCCACTATTTCAGACACAAAACGAAGCACTTCCTGGAAACTGTCCCTCCTGAAGTTGATGGAACCATCCAACAGGAACACAATGTCTGCTTTCTTCTTCTCTAGAAGTGATTAAAGTGAAAATAAGGAGAGATTAGGTTTCCAGACCCAGAACATAAATACACAAAAGGTAAAATTAAATAACTGAAATAAGACATTCCTAATAATTTATTCACAGTGAAACCTTCACTCAAATCCATGCCTCTTTAGCCTGTAGTTCCTGAATTTGCAGCTCCCAAACATGCTAAATACAAGAAGATGAATGATAAATCCTCTAAACAAAAAGGAAAGGAGAAAAATTATTTGATGTCACACTCTGTGAAAACTCAGTGACAGAGAACTTCAGTTATCCCGTGCAAAATGGCATTGTGACAAGAATTCAATAGGGACCTGGCTTTGACATTTGTGATCTCAAGTGTTTTAGGAAATGCCACTAGAAGTTTCCTTTGTGGTCAAGAATTTTAAATAGTTCCTGGAAGTGAAGAGATGTGTGTGAGGTGCAAAGCAAGGAAGGACTAGGAGAAACAGATTGGAAAATAGGAAGAGGCCCCTTAACCTTTGGATGATGGTCTGAGAGCTTTGTAGGAGCTGGCTGAATATCAGTGGTGTGGAGGGTAATTTCTTGATTATAATTAAGCAACTGAGACTGGAATAGAGAGGAGAAAGGATGAGAGACAGTGTGAGGGATGTGAGATGTGCCACAGGCAGCCTGGTAGGGAGCAGTGAGCTAGGGAAACAGGCATACTGCTCCCCTTTGAAGAACCAACCCTAATGGTTTGCTTCAGATGTCTACATGGCGATTACTTGGAGGAGGGACAAAGAAAAATATGGGCTGGTGGAGAGATCCACTTTGCTTTTGCAGCCCCAAAGACGAGAACCAGGAGCACGGGGTAGAAGCTGAGGTGGACGACTGCAAGTCTTCCAGGAAGGTGCTCCCTGATGGTCCCACCAGGCCAAGGAATGAGGGGACCTGGACTATATTGGGCATCTGGCCAGTAGGCATGGGCCAACTTCAAAGTCACATTCAGTGGGGCATGGACTGGCTGATTTCAAAGATGCCATCCTATTCTGAGAGCCAATGAGTTTGTAATTATCTCAGTGCAACACTGCAGAACCTTTCAATGGGGCTATGATTAGTCTCAGGAGTGATGGAAGATCAATAATATGCTTCCTTCTGCAATTTCAATGGAACTACTTTTCCAGTATTTAATTTCTAATATTATCTGAAGAAACAACCCAGAGAGAAGAAAATTATTAAAAATGACTACTGATTACTTTTTTAACTAAAAAAAAAATGTTGATGTCACACTCTGTAGTCATGGGTCACACGGTGCATACCTGGCCGTGAAGGAGGAGGGGTGTCCACCCCTGGAGGTGCAGGAGTGGCTGCGGAGGGTCCAAACGAGTTCATGATTCTTTCTTCTATGTTGGGAAGCTCTCTGAACTCTCGCACTGTGAAGACCAGTCTGGGGTCATTGGTGATGGTCTGCAGCTCTGTTCTGTCGATGTTCCGGTCTCCTACCCCTAAACTCACAATGCCCGAGGAACGGATCACCTGGGCGAACCTGGACACATCGTCCTGGGATTTTCCACCCAGGACCAGGACCAGGTGTTGGGGCACCCCGTCTTCTATGCGACTCCCCGCAGACTTAACAAAGAGGTTTCTTGCCACAAATTCGAGAGCCTTGCCAGTGTTCAGTGGGGACCCCCCTCTGAGCCTCAGGCGCCGTATGGCGTCCAGCACCGGGGCCTGGGATCTGTAGGTTTTCAGATAGAATTCTGGGAAGACATCATTGCTGAACTGCACGACCCCAACTCTCACTTTACTGGGGCCGA
Task1_train_5730
Here is a mutation in MLPH (melanophilin) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Griscelli syndrome type 3
AGCTGCAAGCACAGAAAAGCACCTGCCATGTGCTGGGAACGGACAGAGGTGCTATTCTTGTGGAGCTTAACAATAACTAATGAGACATCACCAACTGTTAAGGGGTATAAAGAAACGTTAAAGGGATGGGGACAGGTGAAGGAGTAAAAACCACAGGATGATCAGGGAAGTCCTCTGTGGGGAGCGTGCACAGTTTTGCAGTGTCCCAGTGTGCATGCATTGGTGGTGAAGTTCTCCCTGGTACAATTGTTCCTCCAATTTTATACCCAGCAGTAATGTCCACATCAATATAAGCTGTGAGGCCTGTGTGATATTGCCATATGAAAAGCCAGCAAGTGGATCTGTCATTCTCTGCTCAGCCACCACCACTGCATCACTCCCCTGCCTCACACCCATCAACCACCTGACAGGATGTACAGGCCAAGGTCCTCTGTGACTCGCCGCCCACTACCCAAGTGAATGAGTCTCCCCTAGAGCTTTGCTACTCAGAGGGGTCTGAGGACAACAGCATGGGCCAACACGTGCACTCGAGCTGCCTGGAGATCTTGTTCAAAGGCAGATTCTGAATGAGTAGGTCTGGGTTGGAGCCTGAGAGTCTGTACTTCTAACAAGTTCCCAGGGGATGCTGCCAGTCCACGAACCACATTTTGAGTAGCAAGCAAGATTCTAAGGTTCCACCTATCTTGGCTTTTGACATTTGGATTTTCCTTCCTCTGTCCTTTGGACATTGATTGGGATCAGGTCTGATGAACTTCAAAAAAAAAGGGCATAAGATCATCTGAGGTTTGACTTCTTGGTCATCAGGTTACCTACAAACACAGCATCACATAGTGCATTGGGTGGGGCCGCTGCTCTGCTGAGCAGCTGAGTCACACCAGATTCTCAGACAGGCACCATGGCTCTTTGGGAGGCCAAGGCAGAAGGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTGCATAGTGAGAACTCGTCTCTAAAAAAAAAAAAAAAAATTAAGTAAAATTTTAAAAAATTTAATTAGATTTGCTGAGGGTGAGGCCTGGCCACCAGTAGTGTTAGGTGATCCTAATACACCCCAGGCATGAGAATCCCTGCTGGGCAGCCCCACAGCTGACCTCTCGAGTAAATAAATCTCAGCACCTACTGCTCATCCTGCCCAGATGTTTTGTTCTCCCAAGTTGCATCACTTTTGCCTCCCCAGGGAAATTATGTGGATATTCCCAGCACAAGCACATCGCCCTCACAGGCATCAGGCTCATATGACCTCCCCCTGGAACCACCCCCAAACACACACATGGCAAACCTAAACAGCCCCCCACGCCCAGAGGATGGTGAAACCTTCCAAGTGCTGTGGAGTCTCCCAACTTTTCCACCTAGTGGGTCAGTCATCCAGGCGTCCCTGCCCACACAGAGCCTGCAGCATCGCTCTAGGAGGTCTAGGAGATGCACAGGAGACTCTGAGCTGACTATGAATTTGCTGTGAAGTTTCCTCTTTTCTGTGCTGTTCCCTCTCCCAAGAAACTTAAGGCGAGAAGCCTCAGGAATGGCGCATTTCTCCCAGGGTTTTCCATTGCAAAGCCCAACCCTAGGTGAGGGAGAGGAGCCATGCCCCTGGATGGGGAGATCACTGACGTTCATCCCACAGTGGAAAGAAAATGAGAGACCCGTGGCTGAGTGTGTTTGGGAGAGTAGGAAGTAGATCCCTTTTAAAATTCGAATGTGGGAATTTTGCATAGATTCACTTAAATTCATTAAACTACACAAGTTTCCAGACAAGCATTAGAAAACCATTTAACCCAAGTACAGACAGATGTCCTGAGAAGTCAGCAGCGTTCTGTGTTGTCTCTTACTCTGTGACTTGATTGGTATTGGTAGGCTTCTGGGACTGATGACTTGTGATCCTGTGACATTCCAGGTGTGACCCCGACAAGAAGCAGAAATGGGGAAGAAACTGGATCTTTCCAAGCTCACTGATGAAGAGGCCCAGCATGTCTTGGAAGTTGTTCAACGAGATTTTGACCTCCGAAGGAAAGAAGAGGAACGGCTAGAGTGAGTGTGCCGTGCTGAGCCCACGGAGCCCGGGGTCCCTGATCTTCCCCCAGGGCCATCATATGGGTGCTGTCTGGGTGGGTCAACAGCCACGTGCAGGGTGAAGAGTGATGGACAGGAAGCCAGGTCTGGGACACAGCTCTTCTTTCTGGCCTTGGTTTTCTCAATGAGAGGATCTGACTTGCCAAACTGACATTCACTTGTTCTCTGAATAGTTTTATTTCAACTTGACCCAGCTTCCAGGGTGATATATCCTAAGCCAGGTGATACTTAGGCCACATCTTTGAAGAATAGAGCAAAAGGTGATACATGGGGAAAGTCTCCATGCCATTCTGAAACACCTAGATGTTGGAATCAAGTCTTTAGGACAGAGGCTGCCCTTCCACCTCTCTTTTCAGCAATGCCAGGTAGCATCCCGTCCTCACCATGGGTGACCCCAGCACGGTTTTGTTCCACTCTGCCCAGTGACTGGGCTAAAACCCACCCATCCTTGTTCACTCTATCCACTGCGCATCTTCCTCCCCCCTCTATCTTCTGGGCCCCCTTATCCTTTCTTGATGTCTTTAGTAGATTGGGTCACCCTATGGGAAGGAAGCATATGAGGGAAGTAGTTAAGCAAAAGCTGAGAGGATGCTCCCGGCGAAGGGGGGGGCAGAGAGCAGAGGACAGAGGGCAGAGGGTGGAGGGCAGAGGGCAGAAGGCAGAAGGCAGATGGTGGAGGGCAGAGGCCAGAGAGTGGAGGGCAGAGGGCCCCGCTGAAGATGGCAGGAGGGAGCCTGGTGTGCCCCAGGGAGAGCACAGGCTGGCGAGGCTGGAGTGGAGTAAATGAGGGGGCCAGGAAGAGAGGCAGTTGGAGATGTAACAGGTGGGGGGCATGGGATCTGGTGCCAGTCACGGGGGTCCTGTAGAGCTTCACAGGGCCTCACCCTTCCCCTGAGTCACCACAGACCTTCGAGCAGAGCAACAGCAAGTCCTAGTTTCTGTTTCACAGCGGTGGGCTCTGTGAAGTGGCCAGATGCACTTTGCAGGCAGAGCCAGCAAGCTTGACCAGAGATCAGATGGGGGGTCTCCAGGGTGAGAGGGATCAAGGGCAACTTCAAGGTTGTGGCCTGAGCAACTTCAAGGACAGAGTTGAGGTCAGCTCTGCTGGGGAGGCCACAGATGGAGAGGTTTGGGGGAAATGTTTCAGGCATGTTGAAGTGACATCACGCAGGTGTGTTGAGCGGGTGTTGGATACATACACTAGTCCGGAGCTCAGAGGAGATGCGTTACGAGAGCTTCGTAAAGGTGAAGCTTCATATGGTGAAACGGATGAAAGGTATTTGTATTCATTTCTGGGACTGCTGCATATGTGACTTGTACAGTACAGATTTAGTGGTTTAAAACACACAGCTGTCCTGCAGTTCTGCAGGTCAGAGGTCCTAAAATCAAGTTGTCCTCAGAGCTACATTCCAGCTGGAGGCTGGAGGGAGGACCCATCTCTCGGCCTTTTCCAGGTTCTAGAGGCTTCCTGGATTCCCTGGCTCCTGGCCCCTCCTCCACCTCCAAGGCCATCAGCACAATGTCTAACAATGTCTCTTTCTGCCACTGCCTCTCTCTCACCCTCCCTCCCTCACCTGTGCCTCCATGCTCACATCTCTCTCTTTGACTTTCCTGCCTTCCTCTTTCCCCTATGAGGAGAAATATGGTTACATTTAGGAACTGCCCGTATCATCCAGGACCCTCTTCCCATCTCAGGATCCTTAATGTCATTCCATCGGCAAAGTCCCTTTTGCTATGTGAGGTGACATTTTCACAGGTTCTTGGGACTAGAACATGAATGCCTTGGGGCAGGGGGTGGCAGCATTGTTCAGCTGACCCCAGCATTTAAAGCTGCAGGGCCATAGGAGACCGCACTGGAAGGGAATTTGGATGGGGACCAGCCCCGGGGACGTGAGCTCAAGCATGTTGAGGAGACAAAGCACCAAGAAAGGAGAGAGAAGGAGCAGTAGAAGAGGGACTTTGGGTTCCCATGCTGAACAGGGTCCGCAACAAACCGTT
AGCTGCAAGCACAGAAAAGCACCTGCCATGTGCTGGGAACGGACAGAGGTGCTATTCTTGTGGAGCTTAACAATAACTAATGAGACATCACCAACTGTTAAGGGGTATAAAGAAACGTTAAAGGGATGGGGACAGGTGAAGGAGTAAAAACCACAGGATGATCAGGGAAGTCCTCTGTGGGGAGCGTGCACAGTTTTGCAGTGTCCCAGTGTGCATGCATTGGTGGTGAAGTTCTCCCTGGTACAATTGTTCCTCCAATTTTATACCCAGCAGTAATGTCCACATCAATATAAGCTGTGAGGCCTGTGTGATATTGCCATATGAAAAGCCAGCAAGTGGATCTGTCATTCTCTGCTCAGCCACCACCACTGCATCACTCCCCTGCCTCACACCCATCAACCACCTGACAGGATGTACAGGCCAAGGTCCTCTGTGACTCGCCGCCCACTACCCAAGTGAATGAGTCTCCCCTAGAGCTTTGCTACTCAGAGGGGTCTGAGGACAACAGCATGGGCCAACACGTGCACTCGAGCTGCCTGGAGATCTTGTTCAAAGGCAGATTCTGAATGAGTAGGTCTGGGTTGGAGCCTGAGAGTCTGTACTTCTAACAAGTTCCCAGGGGATGCTGCCAGTCCACGAACCACATTTTGAGTAGCAAGCAAGATTCTAAGGTTCCACCTATCTTGGCTTTTGACATTTGGATTTTCCTTCCTCTGTCCTTTGGACATTGATTGGGATCAGGTCTGATGAACTTCAAAAAAAAAGGGCATAAGATCATCTGAGGTTTGACTTCTTGGTCATCAGGTTACCTACAAACACAGCATCACATAGTGCATTGGGTGGGGCCGCTGCTCTGCTGAGCAGCTGAGTCACACCAGATTCTCAGACAGGCACCATGGCTCTTTGGGAGGCCAAGGCAGAAGGATTACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCTGCATAGTGAGAACTCGTCTCTAAAAAAAAAAAAAAAAATTAAGTAAAATTTTAAAAAATTTAATTAGATTTGCTGAGGGTGAGGCCTGGCCACCAGTAGTGTTAGGTGATCCTAATACACCCCAGGCATGAGAATCCCTGCTGGGCAGCCCCACAGCTGACCTCTCGAGTAAATAAATCTCAGCACCTACTGCTCATCCTGCCCAGATGTTTTGTTCTCCCAAGTTGCATCACTTTTGCCTCCCCAGGGAAATTATGTGGATATTCCCAGCACAAGCACATCGCCCTCACAGGCATCAGGCTCATATGACCTCCCCCTGGAACCACCCCCAAACACACACATGGCAAACCTAAACAGCCCCCCACGCCCAGAGGATGGTGAAACCTTCCAAGTGCTGTGGAGTCTCCCAACTTTTCCACCTAGTGGGTCAGTCATCCAGGCGTCCCTGCCCACACAGAGCCTGCAGCATCGCTCTAGGAGGTCTAGGAGATGCACAGGAGACTCTGAGCTGACTATGAATTTGCTGTGAAGTTTCCTCTTTTCTGTGCTGTTCCCTCTCCCAAGAAACTTAAGGCGAGAAGCCTCAGGAATGGCGCATTTCTCCCAGGGTTTTCCATTGCAAAGCCCAACCCTAGGTGAGGGAGAGGAGCCATGCCCCTGGATGGGGAGATCACTGACGTTCATCCCACAGTGGAAAGAAAATGAGAGACCCGTGGCTGAGTGTGTTTGGGAGAGTAGGAAGTAGATCCCTTTTAAAATTCGAATGTGGGAATTTTGCATAGATTCACTTAAATTCATTAAACTACACAAGTTTCCAGACAAGCATTAGAAAACCATTTAACCCAAGTACAGACAGATGTCCTGAGAAGTCAGCAGCGTTCTGTGTTGTCTCTTACTCTGTGACTTGATTGGTATTGGTAGGCTTCTGGGACTGATGACTTGTGATCCTGTGACATTCCAGGTGTGACCCCGACAAGAAGCAGAAATGGGGAAGAAACTGGATCTTTCCAAGCTCACTGATGAAGAGGCCCAGCATGTCTTGGAAGTTGTTCAACGAGATTTTGACCTCCGAAGGAAAGAAGAGGAATGGCTAGAGTGAGTGTGCCGTGCTGAGCCCACGGAGCCCGGGGTCCCTGATCTTCCCCCAGGGCCATCATATGGGTGCTGTCTGGGTGGGTCAACAGCCACGTGCAGGGTGAAGAGTGATGGACAGGAAGCCAGGTCTGGGACACAGCTCTTCTTTCTGGCCTTGGTTTTCTCAATGAGAGGATCTGACTTGCCAAACTGACATTCACTTGTTCTCTGAATAGTTTTATTTCAACTTGACCCAGCTTCCAGGGTGATATATCCTAAGCCAGGTGATACTTAGGCCACATCTTTGAAGAATAGAGCAAAAGGTGATACATGGGGAAAGTCTCCATGCCATTCTGAAACACCTAGATGTTGGAATCAAGTCTTTAGGACAGAGGCTGCCCTTCCACCTCTCTTTTCAGCAATGCCAGGTAGCATCCCGTCCTCACCATGGGTGACCCCAGCACGGTTTTGTTCCACTCTGCCCAGTGACTGGGCTAAAACCCACCCATCCTTGTTCACTCTATCCACTGCGCATCTTCCTCCCCCCTCTATCTTCTGGGCCCCCTTATCCTTTCTTGATGTCTTTAGTAGATTGGGTCACCCTATGGGAAGGAAGCATATGAGGGAAGTAGTTAAGCAAAAGCTGAGAGGATGCTCCCGGCGAAGGGGGGGGCAGAGAGCAGAGGACAGAGGGCAGAGGGTGGAGGGCAGAGGGCAGAAGGCAGAAGGCAGATGGTGGAGGGCAGAGGCCAGAGAGTGGAGGGCAGAGGGCCCCGCTGAAGATGGCAGGAGGGAGCCTGGTGTGCCCCAGGGAGAGCACAGGCTGGCGAGGCTGGAGTGGAGTAAATGAGGGGGCCAGGAAGAGAGGCAGTTGGAGATGTAACAGGTGGGGGGCATGGGATCTGGTGCCAGTCACGGGGGTCCTGTAGAGCTTCACAGGGCCTCACCCTTCCCCTGAGTCACCACAGACCTTCGAGCAGAGCAACAGCAAGTCCTAGTTTCTGTTTCACAGCGGTGGGCTCTGTGAAGTGGCCAGATGCACTTTGCAGGCAGAGCCAGCAAGCTTGACCAGAGATCAGATGGGGGGTCTCCAGGGTGAGAGGGATCAAGGGCAACTTCAAGGTTGTGGCCTGAGCAACTTCAAGGACAGAGTTGAGGTCAGCTCTGCTGGGGAGGCCACAGATGGAGAGGTTTGGGGGAAATGTTTCAGGCATGTTGAAGTGACATCACGCAGGTGTGTTGAGCGGGTGTTGGATACATACACTAGTCCGGAGCTCAGAGGAGATGCGTTACGAGAGCTTCGTAAAGGTGAAGCTTCATATGGTGAAACGGATGAAAGGTATTTGTATTCATTTCTGGGACTGCTGCATATGTGACTTGTACAGTACAGATTTAGTGGTTTAAAACACACAGCTGTCCTGCAGTTCTGCAGGTCAGAGGTCCTAAAATCAAGTTGTCCTCAGAGCTACATTCCAGCTGGAGGCTGGAGGGAGGACCCATCTCTCGGCCTTTTCCAGGTTCTAGAGGCTTCCTGGATTCCCTGGCTCCTGGCCCCTCCTCCACCTCCAAGGCCATCAGCACAATGTCTAACAATGTCTCTTTCTGCCACTGCCTCTCTCTCACCCTCCCTCCCTCACCTGTGCCTCCATGCTCACATCTCTCTCTTTGACTTTCCTGCCTTCCTCTTTCCCCTATGAGGAGAAATATGGTTACATTTAGGAACTGCCCGTATCATCCAGGACCCTCTTCCCATCTCAGGATCCTTAATGTCATTCCATCGGCAAAGTCCCTTTTGCTATGTGAGGTGACATTTTCACAGGTTCTTGGGACTAGAACATGAATGCCTTGGGGCAGGGGGTGGCAGCATTGTTCAGCTGACCCCAGCATTTAAAGCTGCAGGGCCATAGGAGACCGCACTGGAAGGGAATTTGGATGGGGACCAGCCCCGGGGACGTGAGCTCAAGCATGTTGAGGAGACAAAGCACCAAGAAAGGAGAGAGAAGGAGCAGTAGAAGAGGGACTTTGGGTTCCCATGCTGAACAGGGTCCGCAACAAACCGTT
Task1_train_5731
This is a variant in PER2 (period circadian regulator 2), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Advanced sleep phase syndrome 1
TGGCTCTGATCCCTGTGCCAGCGTCCCAGGGGGAAGGGAAGAGGCCCCATCTCTAACAAGTGTCTGGGGGTATGGGAAGGAACTGGGGGATCAGGAGCCAGACTTCTGGGCCAGGAAAGGGGTGAAGAAGCTCATCTATTTTACTTCATCCCTTGACCTTCAACCCCCCAAGTGGCACCTGGCCTACACAGCAGCTTCCCACACCATGACCATGGACTCTGCCTGACTCTGGAGTCCAAAGCCCAGCCCTGAGGCTGGCCCAGTCAGGAGGGTGCATCTCCTGGGGAGAAGGGCACCAGAAATGGTACATCCCTCCTTCCTCATGTGCCCAGCACTACATGCCCACTATCTTGAGGTTGAATTCGCTGATTCTCTGGAGGTCCCGTCCAGGTGGGGCCCCTGCCCACATGGTTACTCAGGCAAGAAATGTGGACATGGCAGCACTGCCCTGCCATGGTTCTTCCCACCTCGGGCACTAGCCTGGGACTATTCCCCAGGGAATGCAAGCTGACATCCCGAGAGCACCCCCCCGGTGGGAAGTTCTACAGAAACAGATGGCGTTGCCAGGGAAGTTCCAACAGCTGTCTTATATGTTAATGCTTCTGAAACTGGACACATTTCACATTTTGAAACCAGCACTGGACTCAGTACCAACAGGAATAAAGTTTTTTAAAACGCACTTTTAATTCGGGTATCACTTACTTCGTTCACTTGGCTGCCCCTTGGATCTTTCTTGCAAGTAGTAATGGCAGTGGGACTGGAAAATGCTGAGTTTTCTTATTTCTTTGAACTTCTGCAGGAAGCTCTGCTCCTCCTTCTGTGTGTGTGCAGCGAGTACCTCCTTGGTGAGGCCCAGCTTCTTGAAGGGCTCCTTCTCTTGGCTGAGACCACAGGCCAGGGCAGGGCCCGCCAGGCAGTCCAGGGATTCTGGCCCACTCGCAGCATCTTCCACCATCTCTGTAACACAAGAACCCAGGGCTCTGGTCCACACGTGCCCTGTTTATTATTTTAAGGCCACACTATATTCACGAACAAGACAAATCATTCACGTATAAAGTAATTTCATGATGCCTGTGGCATGAGGATGAGACTCACAGCGTTTTCATTTAGCTTTCTGAGAAAGTTCATGGCAAAAGGCAAGAAGCAGAGCAGGACAGCCCTGACAGCCAGGTGCTCAGGAACCTGGGGCTGAACAAACGGAAACGTGGGGAACCTTGGGCTTCAGCTCTGCTGCTGAAGATATCCCTCGGCTGTCCTTAGCTTTCAGAACACCAGAAACTTGGATCAACGTGCTGAGTCTTTCCGGGTTTGGGACCAGGCATGGTGATAGATGGGACCCTATGGGCCCATGGGGCAGACAGGACAAGGGACAGGCAGGGCCACTGACCATCCTGAAAGGGAGGGCTTGGGGACTGGATCTTGGACATACACTTTTTCCTTATCATTTCCCTCTTCTTAGTAAAGAACAAATTCAGGATTCATTTTAATCATAATATTCTAAAGAACAAGAACACTCAGCCACCAATGCGCTCATTGTAAATCTGTTTACCACCTGTACTGGCTCCTGTCCACAAACAGGGAGAGCTAACGGTCGCACCTTCTGCTGGGCAGAGGAAAGAACCCCAGGCCTGCCCAGGGAAGAGGGAGGTGGGGCCTCGCTCCCAGTGCTCTCCGCACCAATTAAAGGGGATAAGATCTTGCACCACAATCAACCCTCCTGCGTTGATGCCAGAACAGACAACTGCCACTGGAGGGCACCACAGGGCAGCAGAGACCTGGACAGGTTGCTGCCTGGGCCCTGGCTGGCCGCACTCCACCCTGCATTTTACGTAACTGGATTTCCTGAAACGCCCCCTATCGGGCTATGGTGGAGTTCTTCTGCACTTAGAAAAATTTAAGATGGCAAACTTCTTGTTTTCATGGTTAAAAATCAAACTGCTCTCTGATCCAAGAGCCCATAGTCATACCTAACTCCGGCTGCGGCTTCTTGTCTCCCACATGGACGATGGTGCTGCTGTAGCTGCACTGGCTGGTGAGCGACGCCACACTCTCTGCCTTGCCCGGCAGTGCCAGCGAGGTCAGGTGCGTACCTACTCCCGTGCGGCTGTTCACCCTGGAGGGCGGCTCTGCCTCTTCATGAGAGGAAGGGGGAACAAACATTAGTGTGTCATTACAATGCACTGTGCAGATGAGAAACCGACACCCAAGTGCCCATACAGCTTCCACACCAGGGTGCACACAACCCATCCCATCCCATCCCACAGATGCTCTGGCCCAGGCATGGGGTGATTTGTCCCCAATGTTTATTCATAGAAGAATAGTGGAAAAGAGAAAGTTCTGAAATGGGAGCAGTTACACACTTAAATCCTGAGGCCTCTGCAGGGAGGCGCAGCAGCTTGGCAGCTGCAGGGCACACTTGGTGAGGGGCTCTTGCCTGCAGCCAGGCAGCCCTTCTGCAGGCCTGTGGGGAGGGGCTTTCCGACAGTCAGGAGCCAACCATAATCCGGGATACCCTGTTTCTTTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCCGCCTGCCAGGTACAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCATGATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGGGGTACCATTTCTAATCCTGGTGGTGAACATCAGCAACACTGACAGCGTTGTGTTAAGCAGCCTGGGATTTAATGTGATTTATGGGCCATGTTAACATTCAGGCCAAGGGCCCCTCTGAGACACACTGGAAAGAGGGCCTGCCCTAGACTGACAACTTGAGACCAGTGTGGCTGCATGAGGGGGTCAGCAGACGGCCCCTCAGTGTGGCCGCATGAAGGGGACCAGGAGATGTCCCTGCAGTGTGTCTGCATGAGGGGGGTCAGGGGACGGCCCCAGGCCTCCAGTAGCCCCACTGGCTTCCTGTTCTCAAAGCCAAGGCTCTGACAGAACCATCTTTGCCTCTAGTTCCTAAGAAGGGTGCTGACTTTTGAACTACTTTCATCATTTGAAAAACAGCCTACACCCTTACACTGTGTCCACAGAAGCCATGGGGACGTCTGACTCTACTCCAGAGGATTTACATTATTTCACATGTACATGGCTCTACACAGATTAGATACCTCCAGCGTGTGGCCCTGGGCTGACTGTGGCCTTCCGCTTATCACTGGACCTTAGCGCTGGGACGTTTGCTGGGAACTCGCATTTCCTCTTCAGGGTGGCAGCCTCATTGCAGCTCTCCAAGTACCTGTGTGAAAGGCATGAACCACTGGTGAGGCCACACAACATGAGAGGAGGGAAGGTGTGTGAGATGGTGGAGACTCGGCTGGAAATGCCGGCATACCTGATGACGCTGTCCAAGCAGCTGATCTGCTGGTAGGAGCAGGTGGGCTGGTTCTTGCAGGCCAACTCCTCGGGGAAGCTGACCCCCAGGCTGTCCTTTTCCATGGCAGGGACAGCTTTCTTCTCAGCTGGGGGATTAGTTTGCATTTCTGAAGGAATGGCAAAATTGTTCTTTCATTCATTTTTCTCCCACAGAAAACGCTGTGTATTTACAAAGCATTTTCGTTCTACCTGAAGACAGGGCTGGGGACTCAGAATCTGCTTCATGAGTATGGAAGCCTGGGGACAGCCTGGCATCTGGCAGCCCTGTGGGCACGAGCACCACAGTGCCGTCCACAGAGAGACCTGGGGGGGGAGCTGCTGCCCAGCCTGGTGTCTGCTTCTCTCTGGGGTCTAGGCTGTCCCCAGGGGTCAGGGACTCAGCAGTGGGAGACAGCAGTTCTCACTTGAACTCTTAAACTTTCAGGGCCAATGAGAGCCCACGTACTTTATGCTCCTCCTGGGCCAGGCCAGTGTTTTCAAGGTGATCCCTGCTAGTAACAATTATGATGACAA
TGGCTCTGATCCCTGTGCCAGCGTCCCAGGGGGAAGGGAAGAGGCCCCATCTCTAACAAGTGTCTGGGGGTATGGGAAGGAACTGGGGGATCAGGAGCCAGACTTCTGGGCCAGGAAAGGGGTGAAGAAGCTCATCTATTTTACTTCATCCCTTGACCTTCAACCCCCCAAGTGGCACCTGGCCTACACAGCAGCTTCCCACACCATGACCATGGACTCTGCCTGACTCTGGAGTCCAAAGCCCAGCCCTGAGGCTGGCCCAGTCAGGAGGGTGCATCTCCTGGGGAGAAGGGCACCAGAAATGGTACATCCCTCCTTCCTCATGTGCCCAGCACTACATGCCCACTATCTTGAGGTTGAATTCGCTGATTCTCTGGAGGTCCCGTCCAGGTGGGGCCCCTGCCCACATGGTTACTCAGGCAAGAAATGTGGACATGGCAGCACTGCCCTGCCATGGTTCTTCCCACCTCGGGCACTAGCCTGGGACTATTCCCCAGGGAATGCAAGCTGACATCCCGAGAGCACCCCCCCGGTGGGAAGTTCTACAGAAACAGATGGCGTTGCCAGGGAAGTTCCAACAGCTGTCTTATATGTTAATGCTTCTGAAACTGGACACATTTCACATTTTGAAACCAGCACTGGACTCAGTACCAACAGGAATAAAGTTTTTTAAAACGCACTTTTAATTCGGGTATCACTTACTTCGTTCACTTGGCTGCCCCTTGGATCTTTCTTGCAAGTAGTAATGGCAGTGGGACTGGAAAATGCTGAGTTTTCTTATTTCTTTGAACTTCTGCAGGAAGCTCTGCTCCTCCTTCTGTGTGTGTGCAGCGAGTACCTCCTTGGTGAGGCCCAGCTTCTTGAAGGGCTCCTTCTCTTGGCTGAGACCACAGGCCAGGGCAGGGCCCGCCAGGCAGTCCAGGGATTCTGGCCCACTCGCAGCATCTTCCACCATCTCTGTAACACAAGAACCCAGGGCTCTGGTCCACACGTGCCCTGTTTATTATTTTAAGGCCACACTATATTCACGAACAAGACAAATCATTCACGTATAAAGTAATTTCATGATGCCTGTGGCATGAGGATGAGACTCACAGCGTTTTCATTTAGCTTTCTGAGAAAGTTCATGGCAAAAGGCAAGAAGCAGAGCAGGACAGCCCTGACAGCCAGGTGCTCAGGAACCTGGGGCTGAACAAACGGAAACGTGGGGAACCTTGGGCTTCAGCTCTGCTGCTGAAGATATCCCTCGGCTGTCCTTAGCTTTCAGAACACCAGAAACTTGGATCAACGTGCTGAGTCTTTCCGGGTTTGGGACCAGGCATGGTGATAGATGGGACCCTATGGGCCCATGGGGCAGACAGGACAAGGGACAGGCAGGGCCACTGACCATCCTGAAAGGGAGGGCTTGGGGACTGGATCTTGGACATACACTTTTTCCTTATCATTTCCCTCTTCTTAGTAAAGAACAAATTCAGGATTCATTTTAATCATAATATTCTAAAGAACAAGAACACTCAGCCACCAATGCGCTCATTGTAAATCTGTTTACCACCTGTACTGGCTCCTGTCCACAAACAGGGAGAGCTAACGGTCGCACCTTCTGCTGGGCAGAGGAAAGAACCCCAGGCCTGCCCAGGGAAGAGGGAGGTGGGGCCTCGCTCCCAGTGCTCTCCGCACCAATTAAAGGGGATAAGATCTTGCACCACAATCAACCCTCCTGCGTTGATGCCAGAACAGACAACTGCCACTGGAGGGCACCACAGGGCAGCAGAGACCTGGACAGGTTGCTGCCTGGGCCCTGGCTGGCCGCACTCCACCCTGCATTTTACGTAACTGGATTTCCTGAAACGCCCCCTATCGGGCTATGGTGGAGTTCTTCTGCACTTAGAAAAATTTAAGATGGCAAACTTCTTGTTTTCATGGTTAAAAATCAAACTGCTCTCTGATCCAAGAGCCCATAGTCATACCTAACTCCGGCTGCGGCTTCTTGTCTCCCACATGGACGATGGTGCTGCTGTAGCTGCACTGGCTGGTGAGCGACGCCACACCCTCTGCCTTGCCCGGCAGTGCCAGCGAGGTCAGGTGCGTACCTACTCCCGTGCGGCTGTTCACCCTGGAGGGCGGCTCTGCCTCTTCATGAGAGGAAGGGGGAACAAACATTAGTGTGTCATTACAATGCACTGTGCAGATGAGAAACCGACACCCAAGTGCCCATACAGCTTCCACACCAGGGTGCACACAACCCATCCCATCCCATCCCACAGATGCTCTGGCCCAGGCATGGGGTGATTTGTCCCCAATGTTTATTCATAGAAGAATAGTGGAAAAGAGAAAGTTCTGAAATGGGAGCAGTTACACACTTAAATCCTGAGGCCTCTGCAGGGAGGCGCAGCAGCTTGGCAGCTGCAGGGCACACTTGGTGAGGGGCTCTTGCCTGCAGCCAGGCAGCCCTTCTGCAGGCCTGTGGGGAGGGGCTTTCCGACAGTCAGGAGCCAACCATAATCCGGGATACCCTGTTTCTTTCTTTTTTCTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTTGGCTCACTGCAACCTCCGCCTGCCAGGTACAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCATGATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCGGGGTACCATTTCTAATCCTGGTGGTGAACATCAGCAACACTGACAGCGTTGTGTTAAGCAGCCTGGGATTTAATGTGATTTATGGGCCATGTTAACATTCAGGCCAAGGGCCCCTCTGAGACACACTGGAAAGAGGGCCTGCCCTAGACTGACAACTTGAGACCAGTGTGGCTGCATGAGGGGGTCAGCAGACGGCCCCTCAGTGTGGCCGCATGAAGGGGACCAGGAGATGTCCCTGCAGTGTGTCTGCATGAGGGGGGTCAGGGGACGGCCCCAGGCCTCCAGTAGCCCCACTGGCTTCCTGTTCTCAAAGCCAAGGCTCTGACAGAACCATCTTTGCCTCTAGTTCCTAAGAAGGGTGCTGACTTTTGAACTACTTTCATCATTTGAAAAACAGCCTACACCCTTACACTGTGTCCACAGAAGCCATGGGGACGTCTGACTCTACTCCAGAGGATTTACATTATTTCACATGTACATGGCTCTACACAGATTAGATACCTCCAGCGTGTGGCCCTGGGCTGACTGTGGCCTTCCGCTTATCACTGGACCTTAGCGCTGGGACGTTTGCTGGGAACTCGCATTTCCTCTTCAGGGTGGCAGCCTCATTGCAGCTCTCCAAGTACCTGTGTGAAAGGCATGAACCACTGGTGAGGCCACACAACATGAGAGGAGGGAAGGTGTGTGAGATGGTGGAGACTCGGCTGGAAATGCCGGCATACCTGATGACGCTGTCCAAGCAGCTGATCTGCTGGTAGGAGCAGGTGGGCTGGTTCTTGCAGGCCAACTCCTCGGGGAAGCTGACCCCCAGGCTGTCCTTTTCCATGGCAGGGACAGCTTTCTTCTCAGCTGGGGGATTAGTTTGCATTTCTGAAGGAATGGCAAAATTGTTCTTTCATTCATTTTTCTCCCACAGAAAACGCTGTGTATTTACAAAGCATTTTCGTTCTACCTGAAGACAGGGCTGGGGACTCAGAATCTGCTTCATGAGTATGGAAGCCTGGGGACAGCCTGGCATCTGGCAGCCCTGTGGGCACGAGCACCACAGTGCCGTCCACAGAGAGACCTGGGGGGGGAGCTGCTGCCCAGCCTGGTGTCTGCTTCTCTCTGGGGTCTAGGCTGTCCCCAGGGGTCAGGGACTCAGCAGTGGGAGACAGCAGTTCTCACTTGAACTCTTAAACTTTCAGGGCCAATGAGAGCCCACGTACTTTATGCTCCTCCTGGGCCAGGCCAGTGTTTTCAAGGTGATCCCTGCTAGTAACAATTATGATGACAA
Task1_train_5732
The gene TRAF3IP1 (TRAF3 interacting protein 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Senior-Loken syndrome 9
TCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAAGCTCCAACCCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGGTTACAGGCACACACCACTACGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGCTTTCACCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCCTAGAATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGATTGCAGTGGCATGACCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCAGGTGATTCTCTTGCCTCAGCCTTCCTGGTAGCTGGGATTACAGGCGCCCGCCTCTGCACCCAGCTAATATTTTGTATTTTAAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCCCAACTCTAGAATTCTATACTTCTATGCTTAATAAATATTTGTGGCTGAATTTACTGGAGGTGGTTATAGGGGGACATGGAAGGAAAACTATAAAAATGCAATTTAGTATTTGTTGATAAACCATACAGCCTGACTGGCATTGAAATTGGTTGTCTGTATAACTTTTCCATTACCAACTGAACTGTGCTAGAAGAAATATTAAAGGAAGTTCTTCAGACAGGAGGGGTATGACACCAGATGGCGATTTAGATCTCCACAAAAAATGAGGAGGCCTGAAAATGGTAAAAATGAAGGTCAATTTAAAAGTTATAATGGGGGCGGTCGCGCACACCTGTAATACCAGCACTTTGGGAGGCCGATGCGGACGGATTGCCTGAAGTCAGGAGTTCCAGACCTGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAATAATGCAAAAGCGAGGCTGGTGTGGTGTCGGGAGCCTGAAGTCGCAGCTACTCATGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTCAGACTTCGTCTCAAAAAAAAAAAAAGGTTATAATGGTGTTCTCATTAGAAGAACTACAGACCCCAGAGCTCTCAAATCGCCGGAAGGATTTCTGCGGTAGGCCTGTGCATGATGGACAGAGGACAGGTGGTAAAGAATCACGGACACCTAGTAGGACAACTAGGCATGGCTTTGTCCCGGTTTCAGAGCACCGACACAGCATTTAGTCACCATTTACCTTCTTGGGAGGTGGGTTAGGCAGCGGGCACACTAGTCCTGCTTTGTGGGAGCAGAAGTGAAGTCTCAGAGAAAACAGGTGACTTGCCCAAGAAGCCTTATTAATTACCAGCCAGGACAGCGTATTTTCTATTCCGTGTGTTTTGGGATAACTTAGTGCCGTCCCCTCCGATGAACCAGTGCCTTCGAAAGCCCTTGAGATTTGGGAAACAGGCGGCACAGATCTTGGAGGTTACCTTGTTCTTAATCAGTCCTCAGGCAGTCGCCTCTAACGCGAGCGAACACCGGCTTCCCGAGGCCGTCGCTCGGCAGAGGAGGGGCCAGGCGCCCGATCCCAGATCCCCTTTCCCCGCCCCGCCGCGCCCCGCCTGCTCTGGCACAGCCGCACTCCCGCAAATCCCTCCCGCGGAACCCCCACTCCTGCCTGCGCGGGCGCTGGAAGGCGGGCAGGGGGCGGGGCGCCGCGGCGCGTCCGTTGCTAAGGCCGCGCAGCCCTAGTGACCGAACGCCCTGCGGCGGCCGCGCAGGCGCTGTGGTGGGCTCCGGTGCACTGTGGGATGGAAACCGGAGCGGCGCGTCCTGGCAGGACCGGGCGGCGGCGGCGGCGGGGCCGGCGGCGGCCAGGGACCCGGGCTTAGGCTCGGCCAGGCCGGCTGAGGGGCGCGGGCGGCCAGCGGGCGGCGGACGCCGTCATGAACGCGGCGGTGGTGAGGCGGACGCAGGAGGCGCTGGGGAAAGTGATTCGGAGGCCGCCGCTGACCGAGAAGCTGCTGAGCAAGCCCCCGTTCCGCTACCTGCACGACATCATCACGGAGGTGGGCGCCGGGGACCGGGCCCGGCCAGGTGCGGGTCGGGATTCCGGTGGGCGCCGAGGTCAGGGCCCGGGCCGGGTGGCGCCGGGTGCGAGCCGGGCTCGGGCTCAGGTGCGGGTCGGGGGCCGGGGCTGGGCCGGAGTCGGGGCCCGGGCCGGGTGTGAACCGGGTGTGGGCCGGGCTCGGGGTGCAGGTCGGGGACCTGTTCAGGGCCGGGTGTGGGCCGGGCACAGGGTGCGGGTCGGGGGCCGGGGTCAGTTCCGGGGTCGGGGCGAGAGTTCTGTGCGGCCCCTGCCTGGGAGCCCGGCCTGTAGGCCCAATTCCGCGGCGCCCTCCGTGAGGAGGTCCTGCCCCTCCCCCGGCTCCGGGCCGCCGCTTACAAGGAGGCTCCGGGCCCTCAGGAGCATTCTTACTTCTTCCCTGCCTGCCCTTGTATTTCCTTAGAGTGCATCTTCCATTATTGCTGGCAGAGCTGCTTCTGTGACTCCTGCCTCGTCTAACCTTGCAGAACCCCTCTCGCTTGCCCTGAAGTATGTAGCACGTGGAAGGCACTCCCTAAATCCTGGGAGAATGGAAATAATATTTTTTATACAACCCTTCTGCCCCAAAGTTTCCCTCCATACCACATTTTGGGTGCTTAATAAATGCCTGCGGGTGGATTTAGTGGAGGCGGCTGTAGGGGGACTTGGCAGGAAAGACTGTAACAGAGCTGCACAGCCTGCCCTACGTTGAGATTGGTGGTCTCTGTAGCTTTTTCCACTTGCGGATGGTGTGCTCCTCCGTGACGGAGACCCTGGCTTGCTTATTAGCATGGCTCTGGTGATCTGCACTGGGTAAGGTACATAGAAATTGCACAACAAACATCCCCTGTTGAGTGGGACCTGTCAAGGCTCGTGGTAACTCCCTGGTAACTCTCAGGAGCGTCACTGCAGCGGGCGCAGCACCCATTTCCATGGTGGACCCAAGGGCACGTGGGAACTCAGAGGTGTGTTTTGGGATTTAGGATTCAGGTTGGACTTGCAGACTTCCAGGGCCTCATGACCTCACCTGGTGATGGTCCTCAAGCTCTGTTTCTCACTCTTTTCAACAGGTTGGGTGCCTTATTCTTGCACAGACTTTGCTTTACTGGTTCTGCCCTCCTACCTTAGCTTATAACGTGTGGTCTCCTGGAGCGTGTGCCTCTGTGTTAAAACAGTGCCTAAAAATGCTCTCGAATCCACCCACATCCCAGGGCCTCGCCAGCCCTGGTCATGTCCTCCCAGCTGGTGCAGCACTTACAGCCTGTCCTGGACAGTGTGTGGGGAGAGGACCTGCTGTGTGGATAGCCCGGTGGGAGGGGGACAATGTGCCGCATCACCACCGTCCCGTGAAGTAGGCGGGTACCCGTCCTCTGACCCAGAGGGAACAAGAGCCAGTGTGAGCCCAGCCCACTCTAGCTGTGGCTGCCAAAACCTTTATTCTCCCAGGCCTGTCTGTCCCACTGAAATGCAGAGCCCCAGGAGGGAGGTGCAGGGAGTGTGCCTTATCCTTGTGGGGCAGTGATGGCGCTCAGCTCACGGTGGCTGTCCAGTCACTACCGCATAGTTGGTCAGAGGAATCCTAATGGGAGAGGAGGAGGAACATGGGCTGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCCAGATGTTCAAGACCAGCCTGGCCAACATGGTTAAAACTCCATCTCTACTGAAAATACAAAAATTAGCTGAGTGTGGTGGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGTAGGGAAGATTGCTTGAGCCGGGAAGGTTGAGGATGCAGTGAGCTGTGATTGTAACACTGCACTCTAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGCCTTCTTGGCCAGGTAGATAGGGTGTGTGGAACGAGTTGC
TCTTGCTCTGTTGCCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAAGCTCCAACCCCCGGGTTCAAGCGATTCTTGTGCCTCAGCCTTCCAAGTAGCTGGGGTTACAGGCACACACCACTACGCCCAGCTAATTTTTATATTTTTAGTAGAGACAGGCTTTCACCATTTTGGCCAGGCTGGTCTCAAACTCCTGACCTTAAGTGATCTGCCTGCCTCAGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTACCCCTAGAATTCTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGATTGCAGTGGCATGACCTCGGCTCACTGCAAGCTCTGTCTCCTGGGTTCAGGTGATTCTCTTGCCTCAGCCTTCCTGGTAGCTGGGATTACAGGCGCCCGCCTCTGCACCCAGCTAATATTTTGTATTTTAAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCCCAACTCTAGAATTCTATACTTCTATGCTTAATAAATATTTGTGGCTGAATTTACTGGAGGTGGTTATAGGGGGACATGGAAGGAAAACTATAAAAATGCAATTTAGTATTTGTTGATAAACCATACAGCCTGACTGGCATTGAAATTGGTTGTCTGTATAACTTTTCCATTACCAACTGAACTGTGCTAGAAGAAATATTAAAGGAAGTTCTTCAGACAGGAGGGGTATGACACCAGATGGCGATTTAGATCTCCACAAAAAATGAGGAGGCCTGAAAATGGTAAAAATGAAGGTCAATTTAAAAGTTATAATGGGGGCGGTCGCGCACACCTGTAATACCAGCACTTTGGGAGGCCGATGCGGACGGATTGCCTGAAGTCAGGAGTTCCAGACCTGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAATAATGCAAAAGCGAGGCTGGTGTGGTGTCGGGAGCCTGAAGTCGCAGCTACTCATGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTCAGACTTCGTCTCAAAAAAAAAAAAAGGTTATAATGGTGTTCTCATTAGAAGAACTACAGACCCCAGAGCTCTCAAATCGCCGGAAGGATTTCTGCGGTAGGCCTGTGCATGATGGACAGAGGACAGGTGGTAAAGAATCACGGACACCTAGTAGGACAACTAGGCATGGCTTTGTCCCGGTTTCAGAGCACCGACACAGCATTTAGTCACCATTTACCTTCTTGGGAGGTGGGTTAGGCAGCGGGCACACTAGTCCTGCTTTGTGGGAGCAGAAGTGAAGTCTCAGAGAAAACAGGTGACTTGCCCAAGAAGCCTTATTAATTACCAGCCAGGACAGCGTATTTTCTATTCCGTGTGTTTTGGGATAACTTAGTGCCGTCCCCTCCGATGAACCAGTGCCTTCGAAAGCCCTTGAGATTTGGGAAACAGGCGGCACAGATCTTGGAGGTTACCTTGTTCTTAATCAGTCCTCAGGCAGTCGCCTCTAACGCGAGCGAACACCGGCTTCCCGAGGCCGTCGCTCGGCAGAGGAGGGGCCAGGCGCCCGATCCCAGATCCCCTTTCCCCGCCCCGCCGCGCCCCGCCTGCTCTGGCACAGCCGCACTCCCGCAAATCCCTCCCGCGGAACCCCCACTCCTGCCTGCGCGGGCGCTGGAAGGCGGGCAGGGGGCGGGGCGCCGCGGCGCGTCCGTTGCTAAGGCCGCGCAGCCCTAGTGACCGAACGCCCTGCGGCGGCCGCGCAGGCGCTGTGGTGGGCTCCGGTGCACTGTGGGATGGAAACCGGAGCGGCGCGTCCTGGCAGGACCGGGCGGCGGCGGCGGCGGGGCCGGCGGCGGCCAGGGACCCGGGCTTAGGCTCGGCCAGGCCGGCTGAGGGGCGCGGGCGGCCAGCGGGCGGCGGACGCCGTCATGAACGCGGCGGTGGTGAGGCGGACGCAGGAGGCGCTGGGGAAAGTGATGCGGAGGCCGCCGCTGACCGAGAAGCTGCTGAGCAAGCCCCCGTTCCGCTACCTGCACGACATCATCACGGAGGTGGGCGCCGGGGACCGGGCCCGGCCAGGTGCGGGTCGGGATTCCGGTGGGCGCCGAGGTCAGGGCCCGGGCCGGGTGGCGCCGGGTGCGAGCCGGGCTCGGGCTCAGGTGCGGGTCGGGGGCCGGGGCTGGGCCGGAGTCGGGGCCCGGGCCGGGTGTGAACCGGGTGTGGGCCGGGCTCGGGGTGCAGGTCGGGGACCTGTTCAGGGCCGGGTGTGGGCCGGGCACAGGGTGCGGGTCGGGGGCCGGGGTCAGTTCCGGGGTCGGGGCGAGAGTTCTGTGCGGCCCCTGCCTGGGAGCCCGGCCTGTAGGCCCAATTCCGCGGCGCCCTCCGTGAGGAGGTCCTGCCCCTCCCCCGGCTCCGGGCCGCCGCTTACAAGGAGGCTCCGGGCCCTCAGGAGCATTCTTACTTCTTCCCTGCCTGCCCTTGTATTTCCTTAGAGTGCATCTTCCATTATTGCTGGCAGAGCTGCTTCTGTGACTCCTGCCTCGTCTAACCTTGCAGAACCCCTCTCGCTTGCCCTGAAGTATGTAGCACGTGGAAGGCACTCCCTAAATCCTGGGAGAATGGAAATAATATTTTTTATACAACCCTTCTGCCCCAAAGTTTCCCTCCATACCACATTTTGGGTGCTTAATAAATGCCTGCGGGTGGATTTAGTGGAGGCGGCTGTAGGGGGACTTGGCAGGAAAGACTGTAACAGAGCTGCACAGCCTGCCCTACGTTGAGATTGGTGGTCTCTGTAGCTTTTTCCACTTGCGGATGGTGTGCTCCTCCGTGACGGAGACCCTGGCTTGCTTATTAGCATGGCTCTGGTGATCTGCACTGGGTAAGGTACATAGAAATTGCACAACAAACATCCCCTGTTGAGTGGGACCTGTCAAGGCTCGTGGTAACTCCCTGGTAACTCTCAGGAGCGTCACTGCAGCGGGCGCAGCACCCATTTCCATGGTGGACCCAAGGGCACGTGGGAACTCAGAGGTGTGTTTTGGGATTTAGGATTCAGGTTGGACTTGCAGACTTCCAGGGCCTCATGACCTCACCTGGTGATGGTCCTCAAGCTCTGTTTCTCACTCTTTTCAACAGGTTGGGTGCCTTATTCTTGCACAGACTTTGCTTTACTGGTTCTGCCCTCCTACCTTAGCTTATAACGTGTGGTCTCCTGGAGCGTGTGCCTCTGTGTTAAAACAGTGCCTAAAAATGCTCTCGAATCCACCCACATCCCAGGGCCTCGCCAGCCCTGGTCATGTCCTCCCAGCTGGTGCAGCACTTACAGCCTGTCCTGGACAGTGTGTGGGGAGAGGACCTGCTGTGTGGATAGCCCGGTGGGAGGGGGACAATGTGCCGCATCACCACCGTCCCGTGAAGTAGGCGGGTACCCGTCCTCTGACCCAGAGGGAACAAGAGCCAGTGTGAGCCCAGCCCACTCTAGCTGTGGCTGCCAAAACCTTTATTCTCCCAGGCCTGTCTGTCCCACTGAAATGCAGAGCCCCAGGAGGGAGGTGCAGGGAGTGTGCCTTATCCTTGTGGGGCAGTGATGGCGCTCAGCTCACGGTGGCTGTCCAGTCACTACCGCATAGTTGGTCAGAGGAATCCTAATGGGAGAGGAGGAGGAACATGGGCTGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCCAGATGTTCAAGACCAGCCTGGCCAACATGGTTAAAACTCCATCTCTACTGAAAATACAAAAATTAGCTGAGTGTGGTGGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGTAGGGAAGATTGCTTGAGCCGGGAAGGTTGAGGATGCAGTGAGCTGTGATTGTAACACTGCACTCTAGCCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTGCCTTCTTGGCCAGGTAGATAGGGTGTGTGGAACGAGTTGC
Task1_train_5733
This gene mutation involves TRAF3IP1 (TRAF3 interacting protein 1) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Senior-Loken syndrome 9
GTGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCACATCTGGCTCCTGTCTCCTCTGCTGAATCATCTCCGGCTTCCAGTAGCCTCGGGTCTGGGCCAGCTCCATGGCACAGCTTGTGAGGCTCCTAGAGACCTGCTGCTACTTCTCTCCCTTCAGATCCTTCTCTCGTTTCCCATATCTGAGCCCTCCATTCCAGTCGCCACGCACCCCTGCATTCGGCCCTGGCCGGCTGTCTCCCGTCGGCCTCTTGCCCTGGTGCCTGCTGGCTTCTTGGTACCTGAGCTGCCTTCCTCCTCCAGCCTCACCCAGCAACAATGTGGCGTCTGTGAGTGCTTCCTTGAGCCTGGGCCTCTCCTCCCTCCCAGGCTGACTTAGGTGCCCCTGTAGGCTTCCTATAGGCTGTTGTTTAATTGTTGTGTTTATCTGTGTCCCCAGTACACGGTGTGTCTTTGGCCTAAATGGAGCCTGGCACGCGGCAATCACGCAGCATGTGCTTGTGGAATGAGTGCGTGAGTCAGTGGGACTCCTGACTGAGGTGTCCTGCACTCTGGATGGCTGTCGGGGATGCTGGAGAAGGAATTTTTGCGTTTGATGGGGCTTGAATCAGATCAGTGGTTTTTTACCCATAATTTTATTATTGTGTTAAAGTCCATAAAACATAAAATTTGCCATCTTAACCATGTTGAAGTGTACACTTCAGTGCTGGTAAATTCATTCATCTGCAGCCATCACCACCTTCCATCTCCAGGACTCTTCTCCTTGCAAAACAGACTCTGTCCCCATGAAACACTAACTTCCTCTTCTCCCGTACCCCAGCCCCTGGCACCCTCCATTCTACTTTCTGTCTCTATGAATCTGACTACTCTAGGGACCTCGGATAAGTGGGGTCATAGAGTGTTTGTCATTTTTTTGACTGGCTTATTTCACTTAATATAATGTTCTCAAGGTTTATCCATGTTGTGGCATGTATCAGAATTTCATCGCTTTTTAGGGCTGAATAATATTCCATTGTAATGGATATACCATATTTTGTTTATCCACTCAACTGTCAATGGTACAGTTTGCTCCCACATTTTAGCTATTATGAATAATACTGCTATGAACATGGGTATACAAATATCTCTTCAAGACCCCGTTTTCTATTTTTTTGGATAAATACCCAGAAGGGGAATTATTGGGTCATATGGTAAATCTGTGCCTAATTTTTTGAGGAGCTGTTATACTATTTTCCATAATGGCTGCATCATTTTACATTTCCACCAACAGTGCATGAGAGCTTCAATTTCTCCTTATCCTTGCCAATGCTTGTGGTTTTGTGTGTTTTTTTTTAGGAGCAGCCATCCTAATGGGTGTGAGGTGGTTAGATAAAATCTTAAGGCACTTATGGCTGGGATTCTATGATCCCATTAGAAGTTTAAGGTATTTGTAGTAGAGTTGCATGGGTCAGCTTTATTAACCTTGAACACACACATTCACATTTGACAGCTTGGGTAGACTTGAACCAGGATTCATTTAGCTTGGGTGGACGCTACTGTTAGTGACCAAAGTGCTGAAAGTAATAGTTATCAAGATATGCTGTGCTTTGTATGTGATAATAACATGTTCAAAAAATATTTTATCCTTTGAATTTCATTGTAGACAGAGAATCTGTCTCATGAGCTATCTTTGAATGGCGATGTTCTATTTGTTACGTGTGCGGATCTCATTTCACCTAACACCTCATTTCCTTCCATTTGGACGACAAGCTCTCTAGTGACGATGCGGTGCGGAGGGTTTTAGCTGGAGAGAAGGGAGAAGTGAAAGGCCGGGCCTCACTGACCTCAAGATCTCAGGAATTGGATAATAAGAATGTGCGAGAAGAAGAGTCCAGAGTTCACAAAAATACAGAGGTGAATTCCAAGTCGCACATCTTTGAAAATGAAATAGTGAGTCTTTTTGTAGTTTAGGTAAAAATATTCATAAATGATTTTATTTTTATTTCGTAGGATAGAGGAGACGCTGAAATAAAAGAGAGAAGTACAAGCAGAGATCGAAAACAGAAGGAAGAATTGAAAGAAGACCGCAAGCCAAGAGAAAAGGACAAGGACAAGGAGAAGGCCAAGGAGAATGGCGGAAACAGACACAGAGAAGGGGAGAGAGAGAGAGCCAAAGCCCGGGCCAGGCCAGACAACGAGCGACAGAAAGACAGAGGCAACAGGGAGCGGGACAGAGACTCCGAGCGCAAGAAGGAGACAGAGAGAAAGAGTGAGGGGGGGAAAGAGAAGGAGAGACTGAGAGACAGGGACCGAGAGCGCGACCGGGACAAAGGGAAGGACAGGGACAGACGGAGAGTGAAAAACGGGGAGCACTCCTGGGACCTGGACAGGGAGAAGAACAGAGAGCATGACAAACCTGAGAAAAAGGTAAAGTCTTGCTGAGAACCTCGCCTTTTGCTTAGCAAGAGTTTGTGGTGGTCTCAAACATGATTTTTACCTTTCTTACAATATGACTAGGAAACTGGTTTTCTTTTATGCCTATTTAAAATGATGACAATCTTGGATTCTCAATAGAAACCCAAAGAGATACTTATTTCTTGTCAGTTGTGTTTTGGGTTTTTTTGTTCATCCCCTAATAGAAGTTTATTGTTCAGCCAATCATTTATTAAGGCATTATTCAGTGAGTTTTTAACCATTTCCTACTTCATGTCCAGGGAGAATTCTGCTGGATTATAAGCTCCCTAAGAGCAAAAGCTAGAGATTTCACTCATGTTCACTGTTGGATGCCCAGTCTGATAGAGTGTCTGACACATAGCAGCTTTGCAGTAAATATTTGGTGGTGGAATGGATTGAGCATCCAGGCAAGGGGTGATGGGCTTTTCAGATCATGAAACACTGGATGGAATTGATCAATTGATGGTGGTTTCTGAGGTCTCCCTTTATGGAATTTTGATCTGGGAGTGGTAGAAGATAATTTGAAGGGGGATGTCAGGAAAATATTAAATGCTTGCTCTTTTTAGGGTTTAATGATTCCCCACCAGGCATGTAGAGAAATCAACGTTTTTCAGAGTTTGAGCTGATTTGCCAAGTTGCTCTTGTCCTTGTCTTGCAGGTGTTTTAAGATGTGTTGCTTCTCCCGTGCGTGTCGTTTGTGTCATTTGTGTCACTCTCAGTATTGCTCTGAAGGCTTTGGAGCAGCCTCCACCTTAGCATTGCAAGCGGTGTTTATGCGCAGTCTGAGTTGTGCATGTGGTGTCTTTAGGAGCATGGACATTGCTCAGTTATTAAGGATTAGGGCTGCTTTCAAGGGCTTTTAGGCATCAGCAGATAAGTACAATAAGACCTGAGTTTACTGTAATTATTGTTTAATTAAATTTTCAGGTAAATTTAGGGTTTGCCAGGAAGTCCTGTTGGTTTCAAACTGTTTTCTCAATGTGTGAATTCTTTCTGGACCCACCATGTGTGTTGGGGACGTTTTCCCAGACACCCAGACACGCATTCTTTGGGGGATGTCAAATTGTAAAGCATCCCGCGAAGATGTTGGAAATCATCTTGTCTCCAGCTGCTAGGAAGGAGGACACTGAGGTCGGGAAGGGATCCAGATCTGCCCAGTTGATCCGGCCGGGCAGTGAGGGGCAGGGCCTGAGCTGGTGCCATGGCCTCTTCCTCCCGGGACAGCCATCTTGTCTTGTGGCACTGCGTCTCAGGGTGTGCCTGCCCAGGGGAGGTGGGTGGGCGCCACAGGACTGACCCTGAGGGAATCCTGTAAACCAGGCTTTCCTGTGGGGGTCAGTATAAGCCCATTTTGTGATCTGTGGGTCACAGTGGGATGGGGG
GTGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCACATCTGGCTCCTGTCTCCTCTGCTGAATCATCTCCGGCTTCCAGTAGCCTCGGGTCTGGGCCAGCTCCATGGCACAGCTTGTGAGGCTCCTAGAGACCTGCTGCTACTTCTCTCCCTTCAGATCCTTCTCTCGTTTCCCATATCTGAGCCCTCCATTCCAGTCGCCACGCACCCCTGCATTCGGCCCTGGCCGGCTGTCTCCCGTCGGCCTCTTGCCCTGGTGCCTGCTGGCTTCTTGGTACCTGAGCTGCCTTCCTCCTCCAGCCTCACCCAGCAACAATGTGGCGTCTGTGAGTGCTTCCTTGAGCCTGGGCCTCTCCTCCCTCCCAGGCTGACTTAGGTGCCCCTGTAGGCTTCCTATAGGCTGTTGTTTAATTGTTGTGTTTATCTGTGTCCCCAGTACACGGTGTGTCTTTGGCCTAAATGGAGCCTGGCACGCGGCAATCACGCAGCATGTGCTTGTGGAATGAGTGCGTGAGTCAGTGGGACTCCTGACTGAGGTGTCCTGCACTCTGGATGGCTGTCGGGGATGCTGGAGAAGGAATTTTTGCGTTTGATGGGGCTTGAATCAGATCAGTGGTTTTTTACCCATAATTTTATTATTGTGTTAAAGTCCATAAAACATAAAATTTGCCATCTTAACCATGTTGAAGTGTACACTTCAGTGCTGGTAAATTCATTCATCTGCAGCCATCACCACCTTCCATCTCCAGGACTCTTCTCCTTGCAAAACAGACTCTGTCCCCATGAAACACTAACTTCCTCTTCTCCCGTACCCCAGCCCCTGGCACCCTCCATTCTACTTTCTGTCTCTATGAATCTGACTACTCTAGGGACCTCGGATAAGTGGGGTCATAGAGTGTTTGTCATTTTTTTGACTGGCTTATTTCACTTAATATAATGTTCTCAAGGTTTATCCATGTTGTGGCATGTATCAGAATTTCATCGCTTTTTAGGGCTGAATAATATTCCATTGTAATGGATATACCATATTTTGTTTATCCACTCAACTGTCAATGGTACAGTTTGCTCCCACATTTTAGCTATTATGAATAATACTGCTATGAACATGGGTATACAAATATCTCTTCAAGACCCCGTTTTCTATTTTTTTGGATAAATACCCAGAAGGGGAATTATTGGGTCATATGGTAAATCTGTGCCTAATTTTTTGAGGAGCTGTTATACTATTTTCCATAATGGCTGCATCATTTTACATTTCCACCAACAGTGCATGAGAGCTTCAATTTCTCCTTATCCTTGCCAATGCTTGTGGTTTTGTGTGTTTTTTTTTAGGAGCAGCCATCCTAATGGGTGTGAGGTGGTTAGATAAAATCTTAAGGCACTTATGGCTGGGATTCTATGATCCCATTAGAAGTTTAAGGTATTTGTAGTAGAGTTGCATGGGTCAGCTTTATTAACCTTGAACACACACATTCACATTTGACAGCTTGGGTAGACTTGAACCAGGATTCATTTAGCTTGGGTGGACGCTACTGTTAGTGACCAAAGTGCTGAAAGTAATAGTTATCAAGATATGCTGTGCTTTGTATGTGATAATAACATGTTCAAAAAATATTTTATCCTTTGAATTTCATTGTAGACAGAGAATCTGTCTCATGAGCTATCTTTGAATGGCGATGTTCTATTTGTTACGTGTGCGGATCTCATTTCACCTAACACCTCATTTCCTTCCATTTGGACGACAAGCTCTCTAGTGACGATGCGATGCGGAGGGTTTTAGCTGGAGAGAAGGGAGAAGTGAAAGGCCGGGCCTCACTGACCTCAAGATCTCAGGAATTGGATAATAAGAATGTGCGAGAAGAAGAGTCCAGAGTTCACAAAAATACAGAGGTGAATTCCAAGTCGCACATCTTTGAAAATGAAATAGTGAGTCTTTTTGTAGTTTAGGTAAAAATATTCATAAATGATTTTATTTTTATTTCGTAGGATAGAGGAGACGCTGAAATAAAAGAGAGAAGTACAAGCAGAGATCGAAAACAGAAGGAAGAATTGAAAGAAGACCGCAAGCCAAGAGAAAAGGACAAGGACAAGGAGAAGGCCAAGGAGAATGGCGGAAACAGACACAGAGAAGGGGAGAGAGAGAGAGCCAAAGCCCGGGCCAGGCCAGACAACGAGCGACAGAAAGACAGAGGCAACAGGGAGCGGGACAGAGACTCCGAGCGCAAGAAGGAGACAGAGAGAAAGAGTGAGGGGGGGAAAGAGAAGGAGAGACTGAGAGACAGGGACCGAGAGCGCGACCGGGACAAAGGGAAGGACAGGGACAGACGGAGAGTGAAAAACGGGGAGCACTCCTGGGACCTGGACAGGGAGAAGAACAGAGAGCATGACAAACCTGAGAAAAAGGTAAAGTCTTGCTGAGAACCTCGCCTTTTGCTTAGCAAGAGTTTGTGGTGGTCTCAAACATGATTTTTACCTTTCTTACAATATGACTAGGAAACTGGTTTTCTTTTATGCCTATTTAAAATGATGACAATCTTGGATTCTCAATAGAAACCCAAAGAGATACTTATTTCTTGTCAGTTGTGTTTTGGGTTTTTTTGTTCATCCCCTAATAGAAGTTTATTGTTCAGCCAATCATTTATTAAGGCATTATTCAGTGAGTTTTTAACCATTTCCTACTTCATGTCCAGGGAGAATTCTGCTGGATTATAAGCTCCCTAAGAGCAAAAGCTAGAGATTTCACTCATGTTCACTGTTGGATGCCCAGTCTGATAGAGTGTCTGACACATAGCAGCTTTGCAGTAAATATTTGGTGGTGGAATGGATTGAGCATCCAGGCAAGGGGTGATGGGCTTTTCAGATCATGAAACACTGGATGGAATTGATCAATTGATGGTGGTTTCTGAGGTCTCCCTTTATGGAATTTTGATCTGGGAGTGGTAGAAGATAATTTGAAGGGGGATGTCAGGAAAATATTAAATGCTTGCTCTTTTTAGGGTTTAATGATTCCCCACCAGGCATGTAGAGAAATCAACGTTTTTCAGAGTTTGAGCTGATTTGCCAAGTTGCTCTTGTCCTTGTCTTGCAGGTGTTTTAAGATGTGTTGCTTCTCCCGTGCGTGTCGTTTGTGTCATTTGTGTCACTCTCAGTATTGCTCTGAAGGCTTTGGAGCAGCCTCCACCTTAGCATTGCAAGCGGTGTTTATGCGCAGTCTGAGTTGTGCATGTGGTGTCTTTAGGAGCATGGACATTGCTCAGTTATTAAGGATTAGGGCTGCTTTCAAGGGCTTTTAGGCATCAGCAGATAAGTACAATAAGACCTGAGTTTACTGTAATTATTGTTTAATTAAATTTTCAGGTAAATTTAGGGTTTGCCAGGAAGTCCTGTTGGTTTCAAACTGTTTTCTCAATGTGTGAATTCTTTCTGGACCCACCATGTGTGTTGGGGACGTTTTCCCAGACACCCAGACACGCATTCTTTGGGGGATGTCAAATTGTAAAGCATCCCGCGAAGATGTTGGAAATCATCTTGTCTCCAGCTGCTAGGAAGGAGGACACTGAGGTCGGGAAGGGATCCAGATCTGCCCAGTTGATCCGGCCGGGCAGTGAGGGGCAGGGCCTGAGCTGGTGCCATGGCCTCTTCCTCCCGGGACAGCCATCTTGTCTTGTGGCACTGCGTCTCAGGGTGTGCCTGCCCAGGGGAGGTGGGTGGGCGCCACAGGACTGACCCTGAGGGAATCCTGTAAACCAGGCTTTCCTGTGGGGGTCAGTATAAGCCCATTTTGTGATCTGTGGGTCACAGTGGGATGGGGG
Task1_train_5734
The gene TRAF3IP1 (TRAF3 interacting protein 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; Senior-Loken syndrome 9
TGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCACATCTGGCTCCTGTCTCCTCTGCTGAATCATCTCCGGCTTCCAGTAGCCTCGGGTCTGGGCCAGCTCCATGGCACAGCTTGTGAGGCTCCTAGAGACCTGCTGCTACTTCTCTCCCTTCAGATCCTTCTCTCGTTTCCCATATCTGAGCCCTCCATTCCAGTCGCCACGCACCCCTGCATTCGGCCCTGGCCGGCTGTCTCCCGTCGGCCTCTTGCCCTGGTGCCTGCTGGCTTCTTGGTACCTGAGCTGCCTTCCTCCTCCAGCCTCACCCAGCAACAATGTGGCGTCTGTGAGTGCTTCCTTGAGCCTGGGCCTCTCCTCCCTCCCAGGCTGACTTAGGTGCCCCTGTAGGCTTCCTATAGGCTGTTGTTTAATTGTTGTGTTTATCTGTGTCCCCAGTACACGGTGTGTCTTTGGCCTAAATGGAGCCTGGCACGCGGCAATCACGCAGCATGTGCTTGTGGAATGAGTGCGTGAGTCAGTGGGACTCCTGACTGAGGTGTCCTGCACTCTGGATGGCTGTCGGGGATGCTGGAGAAGGAATTTTTGCGTTTGATGGGGCTTGAATCAGATCAGTGGTTTTTTACCCATAATTTTATTATTGTGTTAAAGTCCATAAAACATAAAATTTGCCATCTTAACCATGTTGAAGTGTACACTTCAGTGCTGGTAAATTCATTCATCTGCAGCCATCACCACCTTCCATCTCCAGGACTCTTCTCCTTGCAAAACAGACTCTGTCCCCATGAAACACTAACTTCCTCTTCTCCCGTACCCCAGCCCCTGGCACCCTCCATTCTACTTTCTGTCTCTATGAATCTGACTACTCTAGGGACCTCGGATAAGTGGGGTCATAGAGTGTTTGTCATTTTTTTGACTGGCTTATTTCACTTAATATAATGTTCTCAAGGTTTATCCATGTTGTGGCATGTATCAGAATTTCATCGCTTTTTAGGGCTGAATAATATTCCATTGTAATGGATATACCATATTTTGTTTATCCACTCAACTGTCAATGGTACAGTTTGCTCCCACATTTTAGCTATTATGAATAATACTGCTATGAACATGGGTATACAAATATCTCTTCAAGACCCCGTTTTCTATTTTTTTGGATAAATACCCAGAAGGGGAATTATTGGGTCATATGGTAAATCTGTGCCTAATTTTTTGAGGAGCTGTTATACTATTTTCCATAATGGCTGCATCATTTTACATTTCCACCAACAGTGCATGAGAGCTTCAATTTCTCCTTATCCTTGCCAATGCTTGTGGTTTTGTGTGTTTTTTTTTAGGAGCAGCCATCCTAATGGGTGTGAGGTGGTTAGATAAAATCTTAAGGCACTTATGGCTGGGATTCTATGATCCCATTAGAAGTTTAAGGTATTTGTAGTAGAGTTGCATGGGTCAGCTTTATTAACCTTGAACACACACATTCACATTTGACAGCTTGGGTAGACTTGAACCAGGATTCATTTAGCTTGGGTGGACGCTACTGTTAGTGACCAAAGTGCTGAAAGTAATAGTTATCAAGATATGCTGTGCTTTGTATGTGATAATAACATGTTCAAAAAATATTTTATCCTTTGAATTTCATTGTAGACAGAGAATCTGTCTCATGAGCTATCTTTGAATGGCGATGTTCTATTTGTTACGTGTGCGGATCTCATTTCACCTAACACCTCATTTCCTTCCATTTGGACGACAAGCTCTCTAGTGACGATGCGGTGCGGAGGGTTTTAGCTGGAGAGAAGGGAGAAGTGAAAGGCCGGGCCTCACTGACCTCAAGATCTCAGGAATTGGATAATAAGAATGTGCGAGAAGAAGAGTCCAGAGTTCACAAAAATACAGAGGTGAATTCCAAGTCGCACATCTTTGAAAATGAAATAGTGAGTCTTTTTGTAGTTTAGGTAAAAATATTCATAAATGATTTTATTTTTATTTCGTAGGATAGAGGAGACGCTGAAATAAAAGAGAGAAGTACAAGCAGAGATCGAAAACAGAAGGAAGAATTGAAAGAAGACCGCAAGCCAAGAGAAAAGGACAAGGACAAGGAGAAGGCCAAGGAGAATGGCGGAAACAGACACAGAGAAGGGGAGAGAGAGAGAGCCAAAGCCCGGGCCAGGCCAGACAACGAGCGACAGAAAGACAGAGGCAACAGGGAGCGGGACAGAGACTCCGAGCGCAAGAAGGAGACAGAGAGAAAGAGTGAGGGGGGGAAAGAGAAGGAGAGACTGAGAGACAGGGACCGAGAGCGCGACCGGGACAAAGGGAAGGACAGGGACAGACGGAGAGTGAAAAACGGGGAGCACTCCTGGGACCTGGACAGGGAGAAGAACAGAGAGCATGACAAACCTGAGAAAAAGGTAAAGTCTTGCTGAGAACCTCGCCTTTTGCTTAGCAAGAGTTTGTGGTGGTCTCAAACATGATTTTTACCTTTCTTACAATATGACTAGGAAACTGGTTTTCTTTTATGCCTATTTAAAATGATGACAATCTTGGATTCTCAATAGAAACCCAAAGAGATACTTATTTCTTGTCAGTTGTGTTTTGGGTTTTTTTGTTCATCCCCTAATAGAAGTTTATTGTTCAGCCAATCATTTATTAAGGCATTATTCAGTGAGTTTTTAACCATTTCCTACTTCATGTCCAGGGAGAATTCTGCTGGATTATAAGCTCCCTAAGAGCAAAAGCTAGAGATTTCACTCATGTTCACTGTTGGATGCCCAGTCTGATAGAGTGTCTGACACATAGCAGCTTTGCAGTAAATATTTGGTGGTGGAATGGATTGAGCATCCAGGCAAGGGGTGATGGGCTTTTCAGATCATGAAACACTGGATGGAATTGATCAATTGATGGTGGTTTCTGAGGTCTCCCTTTATGGAATTTTGATCTGGGAGTGGTAGAAGATAATTTGAAGGGGGATGTCAGGAAAATATTAAATGCTTGCTCTTTTTAGGGTTTAATGATTCCCCACCAGGCATGTAGAGAAATCAACGTTTTTCAGAGTTTGAGCTGATTTGCCAAGTTGCTCTTGTCCTTGTCTTGCAGGTGTTTTAAGATGTGTTGCTTCTCCCGTGCGTGTCGTTTGTGTCATTTGTGTCACTCTCAGTATTGCTCTGAAGGCTTTGGAGCAGCCTCCACCTTAGCATTGCAAGCGGTGTTTATGCGCAGTCTGAGTTGTGCATGTGGTGTCTTTAGGAGCATGGACATTGCTCAGTTATTAAGGATTAGGGCTGCTTTCAAGGGCTTTTAGGCATCAGCAGATAAGTACAATAAGACCTGAGTTTACTGTAATTATTGTTTAATTAAATTTTCAGGTAAATTTAGGGTTTGCCAGGAAGTCCTGTTGGTTTCAAACTGTTTTCTCAATGTGTGAATTCTTTCTGGACCCACCATGTGTGTTGGGGACGTTTTCCCAGACACCCAGACACGCATTCTTTGGGGGATGTCAAATTGTAAAGCATCCCGCGAAGATGTTGGAAATCATCTTGTCTCCAGCTGCTAGGAAGGAGGACACTGAGGTCGGGAAGGGATCCAGATCTGCCCAGTTGATCCGGCCGGGCAGTGAGGGGCAGGGCCTGAGCTGGTGCCATGGCCTCTTCCTCCCGGGACAGCCATCTTGTCTTGTGGCACTGCGTCTCAGGGTGTGCCTGCCCAGGGGAGGTGGGTGGGCGCCACAGGACTGACCCTGAGGGAATCCTGTAAACCAGGCTTTCCTGTGGGGGTCAGTATAAGCCCATTTTGTGATCTGTGGGTCACAGTGGGATGGGGGG
TGCCCTGTGGAGGAGCAGGTTGGACTTGTATTGAGAGTGTAATTAATACAGTTTTTCACATACCTAGTGGGTGGTTGGCTGGGGGCTAACCTTAAATGTGACCCAAATGGGAACAGGTAGGTTTCAGCCCCCTCAACAGCAGTGGGTAGTGGAGGTGCATAGTGGTATCAGGCCGACTCCTAGGAGGCCCCCCCAGTGCAGGTCCAGCATGCAAACTTAGAGACTTGGAAGCAGATCTTGCCAGTACACTGGCCTCTGTCCCTAGGCTCCCCAGCTCCCCTTCCCGGGTCCTTTATGTTTCTCATCTTTCTAAAAAGCACATCTGGCTCCTGTCTCCTCTGCTGAATCATCTCCGGCTTCCAGTAGCCTCGGGTCTGGGCCAGCTCCATGGCACAGCTTGTGAGGCTCCTAGAGACCTGCTGCTACTTCTCTCCCTTCAGATCCTTCTCTCGTTTCCCATATCTGAGCCCTCCATTCCAGTCGCCACGCACCCCTGCATTCGGCCCTGGCCGGCTGTCTCCCGTCGGCCTCTTGCCCTGGTGCCTGCTGGCTTCTTGGTACCTGAGCTGCCTTCCTCCTCCAGCCTCACCCAGCAACAATGTGGCGTCTGTGAGTGCTTCCTTGAGCCTGGGCCTCTCCTCCCTCCCAGGCTGACTTAGGTGCCCCTGTAGGCTTCCTATAGGCTGTTGTTTAATTGTTGTGTTTATCTGTGTCCCCAGTACACGGTGTGTCTTTGGCCTAAATGGAGCCTGGCACGCGGCAATCACGCAGCATGTGCTTGTGGAATGAGTGCGTGAGTCAGTGGGACTCCTGACTGAGGTGTCCTGCACTCTGGATGGCTGTCGGGGATGCTGGAGAAGGAATTTTTGCGTTTGATGGGGCTTGAATCAGATCAGTGGTTTTTTACCCATAATTTTATTATTGTGTTAAAGTCCATAAAACATAAAATTTGCCATCTTAACCATGTTGAAGTGTACACTTCAGTGCTGGTAAATTCATTCATCTGCAGCCATCACCACCTTCCATCTCCAGGACTCTTCTCCTTGCAAAACAGACTCTGTCCCCATGAAACACTAACTTCCTCTTCTCCCGTACCCCAGCCCCTGGCACCCTCCATTCTACTTTCTGTCTCTATGAATCTGACTACTCTAGGGACCTCGGATAAGTGGGGTCATAGAGTGTTTGTCATTTTTTTGACTGGCTTATTTCACTTAATATAATGTTCTCAAGGTTTATCCATGTTGTGGCATGTATCAGAATTTCATCGCTTTTTAGGGCTGAATAATATTCCATTGTAATGGATATACCATATTTTGTTTATCCACTCAACTGTCAATGGTACAGTTTGCTCCCACATTTTAGCTATTATGAATAATACTGCTATGAACATGGGTATACAAATATCTCTTCAAGACCCCGTTTTCTATTTTTTTGGATAAATACCCAGAAGGGGAATTATTGGGTCATATGGTAAATCTGTGCCTAATTTTTTGAGGAGCTGTTATACTATTTTCCATAATGGCTGCATCATTTTACATTTCCACCAACAGTGCATGAGAGCTTCAATTTCTCCTTATCCTTGCCAATGCTTGTGGTTTTGTGTGTTTTTTTTTAGGAGCAGCCATCCTAATGGGTGTGAGGTGGTTAGATAAAATCTTAAGGCACTTATGGCTGGGATTCTATGATCCCATTAGAAGTTTAAGGTATTTGTAGTAGAGTTGCATGGGTCAGCTTTATTAACCTTGAACACACACATTCACATTTGACAGCTTGGGTAGACTTGAACCAGGATTCATTTAGCTTGGGTGGACGCTACTGTTAGTGACCAAAGTGCTGAAAGTAATAGTTATCAAGATATGCTGTGCTTTGTATGTGATAATAACATGTTCAAAAAATATTTTATCCTTTGAATTTCATTGTAGACAGAGAATCTGTCTCATGAGCTATCTTTGAATGGCGATGTTCTATTTGTTACGTGTGCGGATCTCATTTCACCTAACACCTCATTTCCTTCCATTTGGACGACAAGCTCTCTAGTGACGATGCGGCGCGGAGGGTTTTAGCTGGAGAGAAGGGAGAAGTGAAAGGCCGGGCCTCACTGACCTCAAGATCTCAGGAATTGGATAATAAGAATGTGCGAGAAGAAGAGTCCAGAGTTCACAAAAATACAGAGGTGAATTCCAAGTCGCACATCTTTGAAAATGAAATAGTGAGTCTTTTTGTAGTTTAGGTAAAAATATTCATAAATGATTTTATTTTTATTTCGTAGGATAGAGGAGACGCTGAAATAAAAGAGAGAAGTACAAGCAGAGATCGAAAACAGAAGGAAGAATTGAAAGAAGACCGCAAGCCAAGAGAAAAGGACAAGGACAAGGAGAAGGCCAAGGAGAATGGCGGAAACAGACACAGAGAAGGGGAGAGAGAGAGAGCCAAAGCCCGGGCCAGGCCAGACAACGAGCGACAGAAAGACAGAGGCAACAGGGAGCGGGACAGAGACTCCGAGCGCAAGAAGGAGACAGAGAGAAAGAGTGAGGGGGGGAAAGAGAAGGAGAGACTGAGAGACAGGGACCGAGAGCGCGACCGGGACAAAGGGAAGGACAGGGACAGACGGAGAGTGAAAAACGGGGAGCACTCCTGGGACCTGGACAGGGAGAAGAACAGAGAGCATGACAAACCTGAGAAAAAGGTAAAGTCTTGCTGAGAACCTCGCCTTTTGCTTAGCAAGAGTTTGTGGTGGTCTCAAACATGATTTTTACCTTTCTTACAATATGACTAGGAAACTGGTTTTCTTTTATGCCTATTTAAAATGATGACAATCTTGGATTCTCAATAGAAACCCAAAGAGATACTTATTTCTTGTCAGTTGTGTTTTGGGTTTTTTTGTTCATCCCCTAATAGAAGTTTATTGTTCAGCCAATCATTTATTAAGGCATTATTCAGTGAGTTTTTAACCATTTCCTACTTCATGTCCAGGGAGAATTCTGCTGGATTATAAGCTCCCTAAGAGCAAAAGCTAGAGATTTCACTCATGTTCACTGTTGGATGCCCAGTCTGATAGAGTGTCTGACACATAGCAGCTTTGCAGTAAATATTTGGTGGTGGAATGGATTGAGCATCCAGGCAAGGGGTGATGGGCTTTTCAGATCATGAAACACTGGATGGAATTGATCAATTGATGGTGGTTTCTGAGGTCTCCCTTTATGGAATTTTGATCTGGGAGTGGTAGAAGATAATTTGAAGGGGGATGTCAGGAAAATATTAAATGCTTGCTCTTTTTAGGGTTTAATGATTCCCCACCAGGCATGTAGAGAAATCAACGTTTTTCAGAGTTTGAGCTGATTTGCCAAGTTGCTCTTGTCCTTGTCTTGCAGGTGTTTTAAGATGTGTTGCTTCTCCCGTGCGTGTCGTTTGTGTCATTTGTGTCACTCTCAGTATTGCTCTGAAGGCTTTGGAGCAGCCTCCACCTTAGCATTGCAAGCGGTGTTTATGCGCAGTCTGAGTTGTGCATGTGGTGTCTTTAGGAGCATGGACATTGCTCAGTTATTAAGGATTAGGGCTGCTTTCAAGGGCTTTTAGGCATCAGCAGATAAGTACAATAAGACCTGAGTTTACTGTAATTATTGTTTAATTAAATTTTCAGGTAAATTTAGGGTTTGCCAGGAAGTCCTGTTGGTTTCAAACTGTTTTCTCAATGTGTGAATTCTTTCTGGACCCACCATGTGTGTTGGGGACGTTTTCCCAGACACCCAGACACGCATTCTTTGGGGGATGTCAAATTGTAAAGCATCCCGCGAAGATGTTGGAAATCATCTTGTCTCCAGCTGCTAGGAAGGAGGACACTGAGGTCGGGAAGGGATCCAGATCTGCCCAGTTGATCCGGCCGGGCAGTGAGGGGCAGGGCCTGAGCTGGTGCCATGGCCTCTTCCTCCCGGGACAGCCATCTTGTCTTGTGGCACTGCGTCTCAGGGTGTGCCTGCCCAGGGGAGGTGGGTGGGCGCCACAGGACTGACCCTGAGGGAATCCTGTAAACCAGGCTTTCCTGTGGGGGTCAGTATAAGCCCATTTTGTGATCTGTGGGTCACAGTGGGATGGGGGG
Task1_train_5735
This is a variant in TWIST2 (twist family bHLH transcription factor 2), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Ablepharon macrostomia syndrome
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCGAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCAAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
Task1_train_5736
This sequence variant lies in TWIST2 (twist family bHLH transcription factor 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Inborn genetic diseases
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCGAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCAAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
Task1_train_5737
Gene TWIST2 (twist family bHLH transcription factor 2) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Barber-Say syndrome
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCGAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
TTAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCCAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTT
Task1_train_5738
Chromosome 2 houses a mutation in gene TWIST2 (twist family bHLH transcription factor 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Barber-Say syndrome
TAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCGAGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTTA
TAAATTTTTATTTGAGAATTTTAAAGAAAGGGACCTGGAAAGCTATTTTGTTGGGCTAGAGGGGCCGTGGGCCTTCCCAGCGCGGAGGAAGGAGGGCGGTCAGGCCGGGTGGGGCTGGGTGCGGTGGCTCTGCAGAACCTTTAGGCACCGAACTGAAGCCGCGGGTCCGGTGCGCGGACACTGCGCAGGGCGCTGCTACCGACTCACATGCATGCGAGGGCCCGCTCCTAGGCGTTCTGCCTTCCTGGACGGATTGTTGGTAAAACGTCCCCTAGAACGGCCGGAGCCAGGGCCCTCGGACAGGGGCGCGAAGGGCCCGCTCTTTGCCGTCCTCGGGTTTCCCAACGCGGTGGTCGTGGCCCGCGGGCCCCACCTCGCGGCCCGCCTGGCCGGCCGGAGGAGCAGCGGAGGCCGAGCACTCCCCGGTCTCGGGTTCAACTTCAATAAAAGGGCCCAGCCCGCCCTTGATCACGCGGCTTGCCTGACAGCCCGGCTCAGGCCCGGGCCTAATTGAGCCCGGGTCACCTGGGAATAGGTTCAAAGGCATCAAAGCCGTAAAAACCACCTCCAGGCCCAGAGCCAGAGCGGCCTGGCGAACAAAGAGCCCCCCAACCACTTCAAACGCGCTCGCGCTCGCCGTCCAGATGGCCCGGGGCCGGGGTCCGTGGTGTCGCTCACCGAGGCCGGGCCCCACACTCCAGCCACCCTGAGCCTCCTGCTCGGAGCTGCCCGCGGGCTGCCAGCGCAGCGGAGGCTGGGCCCGGGGCAGCCTCGTGCAGCTCCCGGAGCGCCCTCCGTCCTCTGCTGACCCGCGAAGCGAAGGCGGAGCGCAGAGGCTGGGGCCGTACAAGGCGGGCCGGCAGGCGCCCCAACCCGCGCCCAGCAACCCGGGTAGGGCCAGGCAGGCGGGCGCGGCGGGTACCGGGCGCTCCCGCAGAGGCTCGCTGTGGCGTTGTTTTAAAGCTGTTAGAAGGAAGGTTCGGGAAGGGCGTCGGGGCCGGGGCTCCCCAGCAAGCCAGGGTAAGAAATGGTCCCCGACACGCACGCTGGCCGAAGGGTGGCATCTCCACGGATCTTGGCGGCATGTCCTTGGGCACGGGCGTCTCCAGGGGGCCCCGACTGTCCTTACACTGGCGGTCCGGACACCGAGACCCCTGCCCGCGCAGCTCCCCAGACCCCAGGCCTAAGCTTGCGGGCCGCGGTGCAGACTAGCTGTGCGCCCGGGGGCGGCCAAGACCCACACAGGTCGAGGAGGCTCCTGGCTGCGTCCTCATCTTCTGGGAGCGCATCTGGGACTGGACTCGCCTCTCTAGCCCCTCACGCCCAGAGAGAGAACCCCCCAAAGCCCAGTGGGGGCCGATCTCTACGTTGAGGCGTAGACAAAGCCAGGCTTGGCCGGGCCTAGGGCTCGGGGCGGCCTGAGAGTGCCCTGCGTTCGGGGTGGGGGCGCGGGCGGCGGGCGAGGACCCGGCCCCCGGGATGCCCTCCGCGCCGGGGCCGAAGGGGGAGGCAAAACTGAAAGTGCCGCGCCGGGGGGCGGGGGCGGCCGGCGAAGGCCCCAGAACTTGTCCTGCCCCCGGCCACCGCGGCCAATCAGCGCGCCGCCCTAGCTCCTGACAACTATTTAGCAACCCAGCCCAGCTAGAGTTTCCAAAAAAGTTAGAATAACTTCCTCTCCCGGAGACCTCGGTTTTGCACAAGCCGGCCTTGAAATCAGAGCCTTTCCAGCAACTCCGAGAGCGTGTGCTCGGCGACCGCGGGCTTGGCCAGCGGCGCGCGCTCGGCGCCCCGGCGCCCCCAGCCCCACGCGCGCCGGGCGGGCGCCATGGAGGAGGGCTCCAGCTCGCCCGTGTCCCCCGTGGACAGCCTGGGCACCAGCGAGGAGGAGCTCGAGAGGCAGCCCAAGCGCTTCGGCCGGAAGCGGCGCTACAGCAAGAAGTCGAGCGAAGATGGCAGCCCGACCCCGGGCAAGCGCGGCAAGAAGGGCAGCCCCAGCGCGCAGTCCTTCGAGGAGCTGCAGAGCCAGCGCATCCTGGCCAACGTGCGCGCGCGCCAGCGCACCCAGTCGCTCAACGAGGCCTTCGCGGCGCTGCGCAAGATCATCCCCACGCTGCCCTCTGACAAGCTGAGCAAGATCCAGACGCTCAAGCTGGCCGCCAGGTACATAGACTTCCTCTACCAGGTCCTGCAGAGCGACGAGATGGACAATAAGATGACCAGCTGCAGCTACGTGGCCCACGAGCGCCTCAGCTACGCCTTCTCCGTGTGGCGCATGGAGGGCGCGTGGTCCATGTCCGCCTCCCACTAGCGCCGCGCCACCCACCTCCGGACCGGCGCGCCAGGGTAGGTGCTGCGCGCGCGACGGGCGCCCTCCGCTGCGGGGGGCGGGCGGCAGGGGCGCAGGGGCATTGGGGCCTGCTCGTGTCTCCTCGGCGAGGCCCCGCGGGCCGCGGGGGCTTGGATGCCGTGCGCTTTTCCTCTTAGCAAGGAAGGCGGGCGGGCGGGACGCTCACAGTCCCAGGGACACCCCTGAGTGCAGACTTCCACGCGAGGGTGTCAGTTGGGAACCGGCGGACCGGTGACTCCCCCGGCGGGTTCTGAAGATACTTAGACAGATGGTCGCAGTTTTCATTCTCGGTGGTGTGTGGGTGTCCGTGGTTGGCGGTGGAAGGAGCGAGCATCAGAAAAACCTCCTGGGGCCGGCTGGGGACTGGGATATGAGGACCAGCTGCCCTTTGCGTCCGCCGCAGCGCAGGCCGCCCGCGAAGCTGCCCGAGCCGGGTGTTGCCGGGCGAATGGCTTCGCTTTCTTCCTGGGCAAGGGTAGAGCGCGTCCGTCGGGCGGACACTCAGATCTACCCAGCTGCTCGCGCCTGGGGTCCCCGGCCGTCGGCGCCCTGGCCTGCCCAGTGGGCGTAGAGGTGCGGGCCTGCGGCTCCAGGGTTTGCCTGGGGAGGACGGGAGGAAACTGCCCTGCGCTTCGGGGCCAGAGCAGCCACAGGGCCGGGTGTGCCCGAGAAGGGCCCTGGGCCGAGAGCGCAGAGCCTGGAGCGCTGAGGCAGGCGGGTCCGACGCAGCCGCGCGGAGCCCCAGGGCGCCCGCAGGCAGGTGGAGCTGACCTAGGAACTGGGAGCCCTGAGTCCCAACCTTGACCCTGGAGTACCCGGGAGGGGCCCCGCCCATCCAGCCCCGCAGGGATGGGCGAGGGGTCCAGGCTGGGAAACGGGTCTGGGGGACAGGGAGGCTGTGCGCGCCGGGCCCTGCGCGAGGAGAAGGCTCGGGGGACACAGCTGCCAGGAGCACTCCAAGTTCTGGTTTCCTCTGGAAGAGCGATTAGGGCGTCCTGCACCGGGTCCTTTTCACCAGACACCTTCCAAGTCCCTTTAGACAAGCTCGAGCCACGGAGGCGCCGTCCTTAGGCTCTGTGAGCAGGCGAGCCCCTCTCTCATCCGCCATCCAGGGCCATGGAGGGGCACAGAGTTCTTTTTGCTGGGGCCGAGTTAAAAATCCTTCCCCCTTAGTATGTTTTAGTTCCTCGCACATCTTGCGATGTTTTTATAAAAGACTCTACTTCACACAGAAGGAATTTAGATTAATCAAGAGCACCCGGCCGCCTATTCTCCCAAACATATCTATTTCTTTTTTTATGTGGTTCTATAATATCTGCGAATGTTGTTGCTGAGGCCACGAAAAGCTGATCCAGCACAGGTGGGTTTTATTTCATTTTTTTAGCTTTTATTTTGGTGTCACTGAAAATTCTGTAGCTGCAGAGCCTCCTGAGATAATGATAATTGTATAGTTTTTAAAAAATAATTTTCAGCAGAAAATAACTTGTGGGAATCTTCTCCTGTCTTTGTCAAAAACAGATGGAAAGTGTCTCAATCACATATTTCTCTAGGAAAGTTTGGATTGGCTGAGTACTAAACGCTACAGTGGGGTAATACATTAATTCTGGTTTTTGCTGCCTAAATAATGAGCTTCCATTAGTTACTTCCATTTATGCTTTACCTCATTCATGGTTTATAGCACATCTGAAATAAGAACAAACAGATGAGGAATGTCATCTTTTTAAAAACACACACATTGAGCCGTGTTTA
Task1_train_5739
Assess the clinical impact of this variant on gene HDAC4 (histone deacetylase 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Neurodevelopmental disorder with central hypotonia and dysmorphic facies
CCACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGCTCAGCACTGATCAGGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTCACGCATGGCTCCTGGATGGTCTCACGTGTGATGTGCTGCTTGCTCAAATTACATCACAAGCTCCTTCCAGGGAAGGACTCTGTCTCACTATTTTTGCGCCCAGCCCAGTGCTGACTCAAAAACAGCACTCAGTAGTCACTGGGTGACAACAGGAACACCAGCTTTAACACTCAGAAGAAGCTTGCTGAAGACTCCGTCTCACCCACTGCACACTTTAAAAAAAAAACAACAAAAAAACGCAAAGGTTCACGTGTCCATTAGAGCTGGCCAAGCAAGGCACTGCTCATAGGAAAAAAGGCTGCATTGGAGTTTGAAAGCTTTTAACTCACATGATTCCTCGTTTCAACTGAATCTTCCCCAGTCAGCTAGACTTAGTGAAACTTTAGATCATAACATTTCTTGATGGCTGTAGAAAAGGTCTGTGTGTACTATAATGGCCAGAGGAAAGAAACCTACATCAGAAATGACACATATGGAGTTCCCCTGGGCATGAAGATGTCAGATACTTTTTAATAGAAATCCACAAATATTCAGACCCAGACCCTTACACCGTGGTTAGGAACTCCTCAAGTAGAGAGGGGACAGGGCACGAGAAACAGGCAGGGCCCTGTATTTAGCGGGTAGGTCTGGCTCTCACCTCACTGCTGAAGCAGAGTCCCTGTGTGATGCCAATGCTCGCACACACGGGGCATGGCACCAGGAGCCCCTCCCCGGCTTCCCTAGGTCAACAGCCTGCTCAGTGGAACTGTGCCTTTCACAGACCACCTACCATGAGCCTTGGCCTTCAAGTTGAACACTTTCTGTTGTGCAAACATGTCCGCTGCCTCCCCTCTATCCAGGCCATGCCCAAGCAGCTCCTTTATCCTGGTGCTGTGATTTCAGGAGTGGTGGGGTGAGGGGTGTACCCTGGTGGTGGTTGGGAATGGGTGGTCCTCTGGATGGGGATGTACCCTCAAGAGGGGCGGGTGAGCCTTCAGGATGGGGGTCTGCTCGGTCTTGTCCTTCTGCGTGTCCACCACTAGATGGGGCCAACCGTGACACGTCACTAGGGCCAAGCTGAAGCAACTTCACTCCTTGCTTCCCTCCCTGCTCAGTTGATGGGTGCTCTGGCGTGGGAAGACGTTAAAATGCCCCGGTGGTTCAGACACTGCTCAGGGGCAGCGGAACAGGGCAGAGCATGCGATTCACCACTACTAGGGTGGGACTGGTTAAGACCCACCTTCAGAGGAGCCTCAACTCAAGCTCCTGACTGCATCTCCCGCAGTGCCAAGCTGGGGCACCCTTGTGCACCTCAGCCCACCTAGAACCAGCTCTGAGTCACTAATGCCAGGAGCAGGGCCCGGCTTAGACATGCCGGAGTCATCAAACCTGGTCCCCTGGGCCTGGCACTTCCAGCGCCATGGGAACAGGACCACACTGGGGGTTGACAGCGTGAGGCAGACACGTGGGTTTTCAGAAGCTCCTGAGAGAAATCGCCTATGGCAGGAAGGCCTGGCAGAGAGGGCAGCGGGGCGGGTGTACCTGCTCAGCCGACATACCTGTGACATCCAACGGACGCTTTTTTAGAGCAGTGACCACTGGCCCGTCTTTCCTGCGTAACAGGGGGCTGCTCCGTCTTTCGGCCACTTTCTGCTTTAGCCTGGACCGTAATTTCAGATTCGGTTCAGAAGCTGCACAAAAAGGAGATGTCATTACAGCCAGGCAGACACCACTGGCTCAAGGTTATCCTGTTGGTGGTTTTTTAAAAATACGCACTCTGGTGAGTAAATATTTGCTCAACACTGCTGTGTTGCTGCAGGGGAGAGCGCAGGGAGCTCACGAAGCAGGGGATTCTAAATCCCATTCATCAGTCCCAAATAATGAATAAAACGAATCTGGTGCTTTGGATAAATTTCTGTGGCCACAGCATTATGCAAGCGCTGGCACTGTCTTCACAGAATCAGGCCACCACTGTTTACCAGGAGATGGAAACAGGACTGACAAGCTGATTTACTGGGCGTGGCAGGAGGCTGCTGAGGTGTGAAGTCACTTAATGGCGATGTCTCGTAACTAATGCTCTTCTAGATAATACACCCCTATCTTCATAGCTGTGTTGCTCTAAAATCAGAGAAAGACTGACAGGGATGTGAGGCTGGGCCCAGGGATGTGAGGATGGTGTCCACGTTGCACACTTTCTTGCTCGCCCATGCATCGCCCCAGCTGTGTCAGTCAGTGAGGCCTCCAGAGCGTGAGGCTGCTATCCCCACCCCGACCTGGGGAGGCTCAGCAGAGCCCATCCCAACATCTGCGCCGGCTTCACCTTTCATCTGACCACAGGGTGAAGGTACTGGGCGTGGGTCGGTTTCTGTGAACAGCTCTGCCTGTGTGGACAGAGCCATTTGCGAATCTACACCTTTCAGCCCACCGTGGTCCCCAACTCATCTGCATCTGGAACCCAAACCTCCGGCGCGAGGCCCGCCTTGGGAAGCACTAGGGATCTAAAGGCAGCGACCGGAGTCAAAGAAATCCCCAAACCCACCCGGGAGAGGTTATCGGCTTTCAGAGTCCAGAACAGAGCCAAGAATACCGCCACGGAGACGTGTGTCACACAAGCCTTTGAGTTCTGAGGTTTTACTTGGCTACTTTCAAGATTCTACCACTTGGAGATTTGCACATTAGGGAGATTTTACCTCTTCTTAAAGAATCAGCACTCCTGCTGTTCTTAATCTTTCTGGAACAGGCAGTGCACCGCCTCCAGAGCAACAAGGAATGAGACGGAGTTTCTCCTGGAAGCAGGACTGATGTGGCTGGGCGATGGGGACCAACATGACTTCACTCTTTGGGACGTGCAGACAGCCCAGGACCTTCTCCACTTTGGAAAAGGCTTCGAGTCAGGGACAGTTTTTCTGCAGGTCTTGGAAGGATGTGGGAGAAGCAAGCTCCCTAAAACAGCCTTCCCAGAGAAACCAGAGAGGCGCTGTGAGAAGGTACCAGACTCTAAGCCTCTGCAGGGAGCGAGGCCTCTGTGCTGTGGCACGGGGGACCTGGATGACGACAGATGACGGATTCAGCCACAAGCCGGCCTCTCCACGGGCTACTGACGAGGGCACACTTCTGTGCCTAACACAACCGACCGAGGCAAGCGTAGATTCACAAGCTCCACTTCTATTTCCACGCTGGGTTTCTTGCCATTATTCAAAAGACAAAACAAAACCAAAAAAAACAAGCCAAAAAACCCAACTGATGACTAGGCAAGAAAACAGTACCTCTTCTCTCACCACCAGATCTCCACTGAAACCCACATGGGCTCTGCAGGGATTCCCCGGGCCTGGGACAGGAGCCACTTCTGAGAGGCAGGGGCTGTGTGTGCCCACAGAAGAGCACAGGGTCCCTGGCCCTGTGTGAAAGGTCTTCCTCAGTGGCTGCCCTGCCACATAGAGTGGGACACGTGGCATCGGGAGGCGGGCATGACATGGTCACTCCAGGCTACCATGGACTGGCTGTGGTACTGCAGCCCAGTGCACCGCCTCCCCCAGGCCCTGTGGGGGTCATCACGCTGCCACCAGGTCATCAGTCAGGCGGCAGATCCTCCACAGCCCTGCCGGGCACTCCAGACTCTTTGTGCAAGAGACTCTTGAGGAGAGTCCCATGGTGGCTGCTTCACCCCACCCCTTCCCTCCACTCCCCTCCCCTTCCCTCCTCTCCCCTTCCACAGGCCTCTGCTCCACGC
CCACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGCTCAGCACTGATCAGGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTCACGCATGGCTCCTGGATGGTCTCACGTGTGATGTGCTGCTTGCTCAAATTACATCACAAGCTCCTTCCAGGGAAGGACTCTGTCTCACTATTTTTGCGCCCAGCCCAGTGCTGACTCAAAAACAGCACTCAGTAGTCACTGGGTGACAACAGGAACACCAGCTTTAACACTCAGAAGAAGCTTGCTGAAGACTCCGTCTCACCCACTGCACACTTTAAAAAAAAAACAACAAAAAAACGCAAAGGTTCACGTGTCCATTAGAGCTGGCCAAGCAAGGCACTGCTCATAGGAAAAAAGGCTGCATTGGAGTTTGAAAGCTTTTAACTCACATGATTCCTCGTTTCAACTGAATCTTCCCCAGTCAGCTAGACTTAGTGAAACTTTAGATCATAACATTTCTTGATGGCTGTAGAAAAGGTCTGTGTGTACTATAATGGCCAGAGGAAAGAAACCTACATCAGAAATGACACATATGGAGTTCCCCTGGGCATGAAGATGTCAGATACTTTTTAATAGAAATCCACAAATATTCAGACCCAGACCCTTACACCGTGGTTAGGAACTCCTCAAGTAGAGAGGGGACAGGGCACGAGAAACAGGCAGGGCCCTGTATTTAGCGGGTAGGTCTGGCTCTCACCTCACTGCTGAAGCAGAGTCCCTGTGTGATGCCAATGCTCGCACACACGGGGCATGGCACCAGGAGCCCCTCCCCGGCTTCCCTAGGTCAACAGCCTGCTCAGTGGAACTGTGCCTTTCACAGACCACCTACCATGAGCCTTGGCCTTCAAGTTGAACACTTTCTGTTGTGCAAACATGTCCGCTGCCTCCCCTCTATCCAGGCCATGCCCAAGCAGCTCCTTTATCCTGGTGCTGTGATTTCAGGAGTGGTGGGGTGAGGGGTGTACCCTGGTGGTGGTTGGGAATGGGTGGTCCTCTGGATGGGGATGTACCCTCAAGAGGGGCGGGTGAGCCTTCAGGATGGGGGTCTGCTCGGTCTTGTCCTTCTGCGTGTCCACCACTAGATGGGGCCAACCGTGACACGTCACTAGGGCCAAGCTGAAGCAACTTCACTCCTTGCTTCCCTCCCTGCTCAGTTGATGGGTGCTCTGGCGTGGGAAGACGTTAAAATGCCCCGGTGGTTCAGACACTGCTCAGGGGCAGCGGAACAGGGCAGAGCATGCGATTCACCACTACTAGGGTGGGACTGGTTAAGACCCACCTTCAGAGGAGCCTCAACTCAAGCTCCTGACTGCATCTCCCGCAGTGCCAAGCTGGGGCACCCTTGTGCACCTCAGCCCACCTAGAACCAGCTCTGAGTCACTAATGCCAGGAGCAGGGCCCGGCTTAGACATGCCGGAGTCATCAAACCTGGTCCCCTGGGCCTGGCACTTCCAGCGCCATGGGAACAGGACCACACTGGGGGTTGACAGCGTGAGGCAGACACGTGGGTTTTCAGAAGCTCCTGAGAGAAATCGCCTATGGCAGGAAGGCCTGGCAGAGAGGGCAGCGGGGCGGGTGTACCTGCTCAGCCGACATACCTGTGACATCCAACGGACGCTTTTTTAGAGCAGTGACCACTGGCCCGTCTTTCCTGCGTAACAGGGGGCTGCTCCGTCTTTCGGCCACTTTCTGCTTTAGCCTGGACCGTAATTTCAGATTCGCTTCAGAAGCTGCACAAAAAGGAGATGTCATTACAGCCAGGCAGACACCACTGGCTCAAGGTTATCCTGTTGGTGGTTTTTTAAAAATACGCACTCTGGTGAGTAAATATTTGCTCAACACTGCTGTGTTGCTGCAGGGGAGAGCGCAGGGAGCTCACGAAGCAGGGGATTCTAAATCCCATTCATCAGTCCCAAATAATGAATAAAACGAATCTGGTGCTTTGGATAAATTTCTGTGGCCACAGCATTATGCAAGCGCTGGCACTGTCTTCACAGAATCAGGCCACCACTGTTTACCAGGAGATGGAAACAGGACTGACAAGCTGATTTACTGGGCGTGGCAGGAGGCTGCTGAGGTGTGAAGTCACTTAATGGCGATGTCTCGTAACTAATGCTCTTCTAGATAATACACCCCTATCTTCATAGCTGTGTTGCTCTAAAATCAGAGAAAGACTGACAGGGATGTGAGGCTGGGCCCAGGGATGTGAGGATGGTGTCCACGTTGCACACTTTCTTGCTCGCCCATGCATCGCCCCAGCTGTGTCAGTCAGTGAGGCCTCCAGAGCGTGAGGCTGCTATCCCCACCCCGACCTGGGGAGGCTCAGCAGAGCCCATCCCAACATCTGCGCCGGCTTCACCTTTCATCTGACCACAGGGTGAAGGTACTGGGCGTGGGTCGGTTTCTGTGAACAGCTCTGCCTGTGTGGACAGAGCCATTTGCGAATCTACACCTTTCAGCCCACCGTGGTCCCCAACTCATCTGCATCTGGAACCCAAACCTCCGGCGCGAGGCCCGCCTTGGGAAGCACTAGGGATCTAAAGGCAGCGACCGGAGTCAAAGAAATCCCCAAACCCACCCGGGAGAGGTTATCGGCTTTCAGAGTCCAGAACAGAGCCAAGAATACCGCCACGGAGACGTGTGTCACACAAGCCTTTGAGTTCTGAGGTTTTACTTGGCTACTTTCAAGATTCTACCACTTGGAGATTTGCACATTAGGGAGATTTTACCTCTTCTTAAAGAATCAGCACTCCTGCTGTTCTTAATCTTTCTGGAACAGGCAGTGCACCGCCTCCAGAGCAACAAGGAATGAGACGGAGTTTCTCCTGGAAGCAGGACTGATGTGGCTGGGCGATGGGGACCAACATGACTTCACTCTTTGGGACGTGCAGACAGCCCAGGACCTTCTCCACTTTGGAAAAGGCTTCGAGTCAGGGACAGTTTTTCTGCAGGTCTTGGAAGGATGTGGGAGAAGCAAGCTCCCTAAAACAGCCTTCCCAGAGAAACCAGAGAGGCGCTGTGAGAAGGTACCAGACTCTAAGCCTCTGCAGGGAGCGAGGCCTCTGTGCTGTGGCACGGGGGACCTGGATGACGACAGATGACGGATTCAGCCACAAGCCGGCCTCTCCACGGGCTACTGACGAGGGCACACTTCTGTGCCTAACACAACCGACCGAGGCAAGCGTAGATTCACAAGCTCCACTTCTATTTCCACGCTGGGTTTCTTGCCATTATTCAAAAGACAAAACAAAACCAAAAAAAACAAGCCAAAAAACCCAACTGATGACTAGGCAAGAAAACAGTACCTCTTCTCTCACCACCAGATCTCCACTGAAACCCACATGGGCTCTGCAGGGATTCCCCGGGCCTGGGACAGGAGCCACTTCTGAGAGGCAGGGGCTGTGTGTGCCCACAGAAGAGCACAGGGTCCCTGGCCCTGTGTGAAAGGTCTTCCTCAGTGGCTGCCCTGCCACATAGAGTGGGACACGTGGCATCGGGAGGCGGGCATGACATGGTCACTCCAGGCTACCATGGACTGGCTGTGGTACTGCAGCCCAGTGCACCGCCTCCCCCAGGCCCTGTGGGGGTCATCACGCTGCCACCAGGTCATCAGTCAGGCGGCAGATCCTCCACAGCCCTGCCGGGCACTCCAGACTCTTTGTGCAAGAGACTCTTGAGGAGAGTCCCATGGTGGCTGCTTCACCCCACCCCTTCCCTCCACTCCCCTCCCCTTCCCTCCTCTCCCCTTCCACAGGCCTCTGCTCCACGC
Task1_train_5740
A sequence alteration has been identified in HDAC4 (histone deacetylase 4) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Neurodevelopmental disorder with central hypotonia and dysmorphic facies
ACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGCTCAGCACTGATCAGGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTCACGCATGGCTCCTGGATGGTCTCACGTGTGATGTGCTGCTTGCTCAAATTACATCACAAGCTCCTTCCAGGGAAGGACTCTGTCTCACTATTTTTGCGCCCAGCCCAGTGCTGACTCAAAAACAGCACTCAGTAGTCACTGGGTGACAACAGGAACACCAGCTTTAACACTCAGAAGAAGCTTGCTGAAGACTCCGTCTCACCCACTGCACACTTTAAAAAAAAAACAACAAAAAAACGCAAAGGTTCACGTGTCCATTAGAGCTGGCCAAGCAAGGCACTGCTCATAGGAAAAAAGGCTGCATTGGAGTTTGAAAGCTTTTAACTCACATGATTCCTCGTTTCAACTGAATCTTCCCCAGTCAGCTAGACTTAGTGAAACTTTAGATCATAACATTTCTTGATGGCTGTAGAAAAGGTCTGTGTGTACTATAATGGCCAGAGGAAAGAAACCTACATCAGAAATGACACATATGGAGTTCCCCTGGGCATGAAGATGTCAGATACTTTTTAATAGAAATCCACAAATATTCAGACCCAGACCCTTACACCGTGGTTAGGAACTCCTCAAGTAGAGAGGGGACAGGGCACGAGAAACAGGCAGGGCCCTGTATTTAGCGGGTAGGTCTGGCTCTCACCTCACTGCTGAAGCAGAGTCCCTGTGTGATGCCAATGCTCGCACACACGGGGCATGGCACCAGGAGCCCCTCCCCGGCTTCCCTAGGTCAACAGCCTGCTCAGTGGAACTGTGCCTTTCACAGACCACCTACCATGAGCCTTGGCCTTCAAGTTGAACACTTTCTGTTGTGCAAACATGTCCGCTGCCTCCCCTCTATCCAGGCCATGCCCAAGCAGCTCCTTTATCCTGGTGCTGTGATTTCAGGAGTGGTGGGGTGAGGGGTGTACCCTGGTGGTGGTTGGGAATGGGTGGTCCTCTGGATGGGGATGTACCCTCAAGAGGGGCGGGTGAGCCTTCAGGATGGGGGTCTGCTCGGTCTTGTCCTTCTGCGTGTCCACCACTAGATGGGGCCAACCGTGACACGTCACTAGGGCCAAGCTGAAGCAACTTCACTCCTTGCTTCCCTCCCTGCTCAGTTGATGGGTGCTCTGGCGTGGGAAGACGTTAAAATGCCCCGGTGGTTCAGACACTGCTCAGGGGCAGCGGAACAGGGCAGAGCATGCGATTCACCACTACTAGGGTGGGACTGGTTAAGACCCACCTTCAGAGGAGCCTCAACTCAAGCTCCTGACTGCATCTCCCGCAGTGCCAAGCTGGGGCACCCTTGTGCACCTCAGCCCACCTAGAACCAGCTCTGAGTCACTAATGCCAGGAGCAGGGCCCGGCTTAGACATGCCGGAGTCATCAAACCTGGTCCCCTGGGCCTGGCACTTCCAGCGCCATGGGAACAGGACCACACTGGGGGTTGACAGCGTGAGGCAGACACGTGGGTTTTCAGAAGCTCCTGAGAGAAATCGCCTATGGCAGGAAGGCCTGGCAGAGAGGGCAGCGGGGCGGGTGTACCTGCTCAGCCGACATACCTGTGACATCCAACGGACGCTTTTTTAGAGCAGTGACCACTGGCCCGTCTTTCCTGCGTAACAGGGGGCTGCTCCGTCTTTCGGCCACTTTCTGCTTTAGCCTGGACCGTAATTTCAGATTCGGTTCAGAAGCTGCACAAAAAGGAGATGTCATTACAGCCAGGCAGACACCACTGGCTCAAGGTTATCCTGTTGGTGGTTTTTTAAAAATACGCACTCTGGTGAGTAAATATTTGCTCAACACTGCTGTGTTGCTGCAGGGGAGAGCGCAGGGAGCTCACGAAGCAGGGGATTCTAAATCCCATTCATCAGTCCCAAATAATGAATAAAACGAATCTGGTGCTTTGGATAAATTTCTGTGGCCACAGCATTATGCAAGCGCTGGCACTGTCTTCACAGAATCAGGCCACCACTGTTTACCAGGAGATGGAAACAGGACTGACAAGCTGATTTACTGGGCGTGGCAGGAGGCTGCTGAGGTGTGAAGTCACTTAATGGCGATGTCTCGTAACTAATGCTCTTCTAGATAATACACCCCTATCTTCATAGCTGTGTTGCTCTAAAATCAGAGAAAGACTGACAGGGATGTGAGGCTGGGCCCAGGGATGTGAGGATGGTGTCCACGTTGCACACTTTCTTGCTCGCCCATGCATCGCCCCAGCTGTGTCAGTCAGTGAGGCCTCCAGAGCGTGAGGCTGCTATCCCCACCCCGACCTGGGGAGGCTCAGCAGAGCCCATCCCAACATCTGCGCCGGCTTCACCTTTCATCTGACCACAGGGTGAAGGTACTGGGCGTGGGTCGGTTTCTGTGAACAGCTCTGCCTGTGTGGACAGAGCCATTTGCGAATCTACACCTTTCAGCCCACCGTGGTCCCCAACTCATCTGCATCTGGAACCCAAACCTCCGGCGCGAGGCCCGCCTTGGGAAGCACTAGGGATCTAAAGGCAGCGACCGGAGTCAAAGAAATCCCCAAACCCACCCGGGAGAGGTTATCGGCTTTCAGAGTCCAGAACAGAGCCAAGAATACCGCCACGGAGACGTGTGTCACACAAGCCTTTGAGTTCTGAGGTTTTACTTGGCTACTTTCAAGATTCTACCACTTGGAGATTTGCACATTAGGGAGATTTTACCTCTTCTTAAAGAATCAGCACTCCTGCTGTTCTTAATCTTTCTGGAACAGGCAGTGCACCGCCTCCAGAGCAACAAGGAATGAGACGGAGTTTCTCCTGGAAGCAGGACTGATGTGGCTGGGCGATGGGGACCAACATGACTTCACTCTTTGGGACGTGCAGACAGCCCAGGACCTTCTCCACTTTGGAAAAGGCTTCGAGTCAGGGACAGTTTTTCTGCAGGTCTTGGAAGGATGTGGGAGAAGCAAGCTCCCTAAAACAGCCTTCCCAGAGAAACCAGAGAGGCGCTGTGAGAAGGTACCAGACTCTAAGCCTCTGCAGGGAGCGAGGCCTCTGTGCTGTGGCACGGGGGACCTGGATGACGACAGATGACGGATTCAGCCACAAGCCGGCCTCTCCACGGGCTACTGACGAGGGCACACTTCTGTGCCTAACACAACCGACCGAGGCAAGCGTAGATTCACAAGCTCCACTTCTATTTCCACGCTGGGTTTCTTGCCATTATTCAAAAGACAAAACAAAACCAAAAAAAACAAGCCAAAAAACCCAACTGATGACTAGGCAAGAAAACAGTACCTCTTCTCTCACCACCAGATCTCCACTGAAACCCACATGGGCTCTGCAGGGATTCCCCGGGCCTGGGACAGGAGCCACTTCTGAGAGGCAGGGGCTGTGTGTGCCCACAGAAGAGCACAGGGTCCCTGGCCCTGTGTGAAAGGTCTTCCTCAGTGGCTGCCCTGCCACATAGAGTGGGACACGTGGCATCGGGAGGCGGGCATGACATGGTCACTCCAGGCTACCATGGACTGGCTGTGGTACTGCAGCCCAGTGCACCGCCTCCCCCAGGCCCTGTGGGGGTCATCACGCTGCCACCAGGTCATCAGTCAGGCGGCAGATCCTCCACAGCCCTGCCGGGCACTCCAGACTCTTTGTGCAAGAGACTCTTGAGGAGAGTCCCATGGTGGCTGCTTCACCCCACCCCTTCCCTCCACTCCCCTCCCCTTCCCTCCTCTCCCCTTCCACAGGCCTCTGCTCCACGCCC
ACGCATGGCTCCTGGGTGAGCTCGGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTTAGCACTGATCAAGCCCTGTCACACATGGCTCCTGGGTGAGCTCAGCATTGATCACGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCATGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGCCGCATGGCTCCTGGGTGAGCTCAGCAATGATCGTGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTGACGCATGGCTCCTGGGTGAGCTCAGCACTGATCAGGCCCTGTCACACATGACTCCTGGGTGAGCTCAGCACTGATCACGCCCTGTCACGCATGGCTCCTGGATGGTCTCACGTGTGATGTGCTGCTTGCTCAAATTACATCACAAGCTCCTTCCAGGGAAGGACTCTGTCTCACTATTTTTGCGCCCAGCCCAGTGCTGACTCAAAAACAGCACTCAGTAGTCACTGGGTGACAACAGGAACACCAGCTTTAACACTCAGAAGAAGCTTGCTGAAGACTCCGTCTCACCCACTGCACACTTTAAAAAAAAAACAACAAAAAAACGCAAAGGTTCACGTGTCCATTAGAGCTGGCCAAGCAAGGCACTGCTCATAGGAAAAAAGGCTGCATTGGAGTTTGAAAGCTTTTAACTCACATGATTCCTCGTTTCAACTGAATCTTCCCCAGTCAGCTAGACTTAGTGAAACTTTAGATCATAACATTTCTTGATGGCTGTAGAAAAGGTCTGTGTGTACTATAATGGCCAGAGGAAAGAAACCTACATCAGAAATGACACATATGGAGTTCCCCTGGGCATGAAGATGTCAGATACTTTTTAATAGAAATCCACAAATATTCAGACCCAGACCCTTACACCGTGGTTAGGAACTCCTCAAGTAGAGAGGGGACAGGGCACGAGAAACAGGCAGGGCCCTGTATTTAGCGGGTAGGTCTGGCTCTCACCTCACTGCTGAAGCAGAGTCCCTGTGTGATGCCAATGCTCGCACACACGGGGCATGGCACCAGGAGCCCCTCCCCGGCTTCCCTAGGTCAACAGCCTGCTCAGTGGAACTGTGCCTTTCACAGACCACCTACCATGAGCCTTGGCCTTCAAGTTGAACACTTTCTGTTGTGCAAACATGTCCGCTGCCTCCCCTCTATCCAGGCCATGCCCAAGCAGCTCCTTTATCCTGGTGCTGTGATTTCAGGAGTGGTGGGGTGAGGGGTGTACCCTGGTGGTGGTTGGGAATGGGTGGTCCTCTGGATGGGGATGTACCCTCAAGAGGGGCGGGTGAGCCTTCAGGATGGGGGTCTGCTCGGTCTTGTCCTTCTGCGTGTCCACCACTAGATGGGGCCAACCGTGACACGTCACTAGGGCCAAGCTGAAGCAACTTCACTCCTTGCTTCCCTCCCTGCTCAGTTGATGGGTGCTCTGGCGTGGGAAGACGTTAAAATGCCCCGGTGGTTCAGACACTGCTCAGGGGCAGCGGAACAGGGCAGAGCATGCGATTCACCACTACTAGGGTGGGACTGGTTAAGACCCACCTTCAGAGGAGCCTCAACTCAAGCTCCTGACTGCATCTCCCGCAGTGCCAAGCTGGGGCACCCTTGTGCACCTCAGCCCACCTAGAACCAGCTCTGAGTCACTAATGCCAGGAGCAGGGCCCGGCTTAGACATGCCGGAGTCATCAAACCTGGTCCCCTGGGCCTGGCACTTCCAGCGCCATGGGAACAGGACCACACTGGGGGTTGACAGCGTGAGGCAGACACGTGGGTTTTCAGAAGCTCCTGAGAGAAATCGCCTATGGCAGGAAGGCCTGGCAGAGAGGGCAGCGGGGCGGGTGTACCTGCTCAGCCGACATACCTGTGACATCCAACGGACGCTTTTTTAGAGCAGTGACCACTGGCCCGTCTTTCCTGCGTAACAGGGGGCTGCTCCGTCTTTCGGCCACTTTCTGCTTTAGCCTGGACCGTAATTTCAGATTCGGTCCAGAAGCTGCACAAAAAGGAGATGTCATTACAGCCAGGCAGACACCACTGGCTCAAGGTTATCCTGTTGGTGGTTTTTTAAAAATACGCACTCTGGTGAGTAAATATTTGCTCAACACTGCTGTGTTGCTGCAGGGGAGAGCGCAGGGAGCTCACGAAGCAGGGGATTCTAAATCCCATTCATCAGTCCCAAATAATGAATAAAACGAATCTGGTGCTTTGGATAAATTTCTGTGGCCACAGCATTATGCAAGCGCTGGCACTGTCTTCACAGAATCAGGCCACCACTGTTTACCAGGAGATGGAAACAGGACTGACAAGCTGATTTACTGGGCGTGGCAGGAGGCTGCTGAGGTGTGAAGTCACTTAATGGCGATGTCTCGTAACTAATGCTCTTCTAGATAATACACCCCTATCTTCATAGCTGTGTTGCTCTAAAATCAGAGAAAGACTGACAGGGATGTGAGGCTGGGCCCAGGGATGTGAGGATGGTGTCCACGTTGCACACTTTCTTGCTCGCCCATGCATCGCCCCAGCTGTGTCAGTCAGTGAGGCCTCCAGAGCGTGAGGCTGCTATCCCCACCCCGACCTGGGGAGGCTCAGCAGAGCCCATCCCAACATCTGCGCCGGCTTCACCTTTCATCTGACCACAGGGTGAAGGTACTGGGCGTGGGTCGGTTTCTGTGAACAGCTCTGCCTGTGTGGACAGAGCCATTTGCGAATCTACACCTTTCAGCCCACCGTGGTCCCCAACTCATCTGCATCTGGAACCCAAACCTCCGGCGCGAGGCCCGCCTTGGGAAGCACTAGGGATCTAAAGGCAGCGACCGGAGTCAAAGAAATCCCCAAACCCACCCGGGAGAGGTTATCGGCTTTCAGAGTCCAGAACAGAGCCAAGAATACCGCCACGGAGACGTGTGTCACACAAGCCTTTGAGTTCTGAGGTTTTACTTGGCTACTTTCAAGATTCTACCACTTGGAGATTTGCACATTAGGGAGATTTTACCTCTTCTTAAAGAATCAGCACTCCTGCTGTTCTTAATCTTTCTGGAACAGGCAGTGCACCGCCTCCAGAGCAACAAGGAATGAGACGGAGTTTCTCCTGGAAGCAGGACTGATGTGGCTGGGCGATGGGGACCAACATGACTTCACTCTTTGGGACGTGCAGACAGCCCAGGACCTTCTCCACTTTGGAAAAGGCTTCGAGTCAGGGACAGTTTTTCTGCAGGTCTTGGAAGGATGTGGGAGAAGCAAGCTCCCTAAAACAGCCTTCCCAGAGAAACCAGAGAGGCGCTGTGAGAAGGTACCAGACTCTAAGCCTCTGCAGGGAGCGAGGCCTCTGTGCTGTGGCACGGGGGACCTGGATGACGACAGATGACGGATTCAGCCACAAGCCGGCCTCTCCACGGGCTACTGACGAGGGCACACTTCTGTGCCTAACACAACCGACCGAGGCAAGCGTAGATTCACAAGCTCCACTTCTATTTCCACGCTGGGTTTCTTGCCATTATTCAAAAGACAAAACAAAACCAAAAAAAACAAGCCAAAAAACCCAACTGATGACTAGGCAAGAAAACAGTACCTCTTCTCTCACCACCAGATCTCCACTGAAACCCACATGGGCTCTGCAGGGATTCCCCGGGCCTGGGACAGGAGCCACTTCTGAGAGGCAGGGGCTGTGTGTGCCCACAGAAGAGCACAGGGTCCCTGGCCCTGTGTGAAAGGTCTTCCTCAGTGGCTGCCCTGCCACATAGAGTGGGACACGTGGCATCGGGAGGCGGGCATGACATGGTCACTCCAGGCTACCATGGACTGGCTGTGGTACTGCAGCCCAGTGCACCGCCTCCCCCAGGCCCTGTGGGGGTCATCACGCTGCCACCAGGTCATCAGTCAGGCGGCAGATCCTCCACAGCCCTGCCGGGCACTCCAGACTCTTTGTGCAAGAGACTCTTGAGGAGAGTCCCATGGTGGCTGCTTCACCCCACCCCTTCCCTCCACTCCCCTCCCCTTCCCTCCTCTCCCCTTCCACAGGCCTCTGCTCCACGCCC
Task1_train_5741
This variant impacts the gene HDAC4 (histone deacetylase 4) on Chromosome 2. Is the change likely to result in a pathogenic outcome?
Pathogenic; HDAC4-related disorder
CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAAATGCGCCCATGTTTGCAGGGTTCTTGACTTGGAGAGGACATGGCCGTGCTGATATGGCCCACTCCAGCAGGGTCTCCACCAGCCCGATACGGCCCACTCCTCTGAGGTCACAGCTGGCCTGTTATGACCCACTCCTCCAGGGACTTGGCCGGCCCCATACGACCCACTCCACCTGGGACATGGCCAGCCCGATACGACCCACTCCACCTGGGACGTGGCCAGCCTGATATGACCCACTCCACCTGGGACATGGCTGACCCAATACGGCCCACTGCTCCAGGGACACCACCGCCTCAATAAACCCTAATAGGTGTACTGGGAACATGGCCGGCCTGATATGGTCCACTCCACCTGGGACATGGGCCAGACTGATATGACCCAGTCCACCTGGGACATGGCCAGCCCAATACAGCCCACTCCACCTGGGACACCACCGCCTCAACACACCCTAATAGAGCCCACTCCATTGGGAACAGGGCTGGCCTGATATGGCCCACTCCACCTGGGACATGGCCCACTCCACCTGGGACATGGCCGACCTGATATAGCTCACACCTCTAGGGTCACAGCTGGACCAATACAGCCCACGGCTCCAGGGATGTGGCTGGCTGATATGGCCTACTCCTCTAGGGTCACAGCTGGCCTGATATGACCCTCTGCTCCAGGGATGTGGCTGGCCTGACACGGCTCCCAGCAGCCCCTCACAAAGCCTCATTGTTCCAGTGAAGAAGCCCTTGTGTGACTGAGTACGTTCACTGTTTCCGCCCAGAACTGGCCAAAACCTTTGGATAACAGAGAATTTGTTTAGCAAAAAAAAGCGGTGCCCCTAGGCTCTCATCTCCAAGAGCCGCCCCCTAGGGAGGACGCCTTGGGATTTCCCACACTGTCTTGCAGTTTGTAGGATCCACTGGCCACATCTGGGATGAGGCACTGCCCGCCCTCAGCACCTGCTCCAGCTCCTGCCCTCACCAATTCTCTGGGCAGAGCCTCTGGAAGGCACTCCCTGGCCCCTGCCCTTCTTGCTACCCCAGCGCACTGCCCACAGCCACCCTAATCATTATCTAAAGCCACTGCCGTGGCCCCTGAGAAAGTCACAGAGGGTCCGTCCTGACTTGCCAGACACTGCTGCAGCCGCCTCTCCCTGCTTCTAAGATGGTCCAGGCACCTGCTTGTGCCTAAATGCCCTTCTCCCTTGGCTTAGGACAGAACTGTGGCACATAACTCTGAGCCCAGCTGGGATATCCCCTGCAGGACATAGCGAATTTCTTTCTCATAAAGATTTCCCTCCCACTCTGGGGACCTGGAAGGCCCTGCTGCTGGCACTGCCCAGCGCCATCCCTGAAGGCCACAGGCTCACCTGCTCTCAGACGGCACATGGCCCACCAACAGGAACTTGCTTCACCCTGTGACCACTGCGGGGACGCCCCTCAGTGTGGCAAAATCTAACACACCACCGAAAGAAAACTAAACTGAGTGTGCTTTCAAAGTGAGTTTGAGTGTTCAGCAGTGGTGTACATGCGTTAGGTTCATTTCTTTTGAAATAAATAATAAGGAAATGTTTAGGGATATCTTTTAAAAACGATGCTCTATGAAAGGAGAAAATATTTAAAAATCTGCAGGTGATTCCTTCTCTAAGTGGAAGACAGCGGTGGGCCCTGCGTGGCTTGTGGCGTGGAAGGTGCCCGTGCAGGAGACCTCCCGGCCCACAGCATGCCTGGGCACTGACCTGTTTTCCTAAGAGGGAAGTCATCTTTGGCGTCGTACATTCCCAGGACCGGGTGGTTATAGGAGGTCGACACTCCGCTCTGGGGTGGAGAACTCTGGTCAAGGGAACTGTGCTGCGTTTTCCTGGAGAGAAGGCAAAGACAGATGGTTTAGTTTACCCAGCGCACTGCCCCAGGCATGCTGCAGCCGAGAAGCCACACACGATGATCTTTCCCTTGAAACCTCAGCCCCACCTCAACAGACACACCTTTTCCCTAGGGTCAAGCTGAAATTAAATGGAAACAAACAGGATGCTAAACAAGCAAGCAAACATCCGATGCCCACATCCTCCTCTGCGGGACCAGCAGTGCTTGGGGATGGGATGGGCAGCACCTCTGGCCGTTTTCCTGGTGGCTGTTCTCCACCTGGCCCTGTCCTCTCAGATGGCTCCAGCCCAGTCAGTTCGCTACCAGGGCCACCACTGGCCACTCAGAGAGCCTATCCCCGGTGGGGAGAGGAAGAGGAAAACAGTAGGCTGCTGCATAAGGAATCAAAGGTGAGTTCATAGGCAGCTGAGACGGGGCAAAAAACGGTCTAAGAACAAACGCTGTGATGTGTGGGACTCTCTCTGCCACCTGGAGAGAAGAAGCCCATGGGGCTGTCTCTCAGAAGGCACCCATCGTCATCCGTGCCTTCACCAAACTCACCCTGGTCACCTCCCTCTCTGGGGGAGGAACAGGATGGCAGCTACTGATACCCTGTGCCCAGGGAGCTGACCTACGAAAGGGACTTCCTGTATGAACAGCTGGGTACAACTCCACACCCTCCAGGCAGCAAGACAGGAATCGTCTGCCAGGAGAATGGCCGGAGGACGGACATGGGGAGGAGGCGGGCCCTGGGCCGGGACGGGGATGTGGGCTGCCACCCGGATGACCATCAGCAAGGCCTTTTTTGACGGCACTGACAGCTCAGTCTTGCTCAAAACACTGTGCTGAGTGGAATAAATTCTGAGTCTTTAAACTGCGTAATCTGCTTAATGACTACAAACAAATTTGCCGACTTACTTATTTGGAATTGGTTAGACTATTTGAATACATAGTATGGCACACCAATGCACCTGGAGTTATTTGAATTAAGAATGGGAGCTTGTAAATGGGTACAGGTGTATATTTAAATATTTGAGAGCACACCAGTGCAAAGAATGTGCTGAAGGGAACTCATAGACAAAATTGAGGAGCCGAGCCCAGGCACCTGGGCAGTGGGGTGCTGGGCCGTGCATCACAGGAGGAGCTCAGGGAGCTCCGGAAAACTGCACAGCTTCAGGCCACGCCCCAACCCCGCCCACTGCTCAGGGCACACCTCCAACCCCAAGCAGCTTCTCGCTGTTTCCCGGGGAATTCCACCATGCAGTCAGGCTCGGACTGCAGGGCTGGGACACGCCTGTCTGCACCTGTGCAGGGGCTGTGGCCTCCAAGTGGGACCACGTCCTTGTGCAAGCCTCCCTTCTCTTCCCTGTAGTTCTACCCCTCGTCTCACAATCTCATGAAAAGGTCTGGGGGCAACACTCTTTCTCTACCAAATAGTATTTTCAGATTGTATCCTATGGGGAATGTGATCTTGGCTGATTCCAAACTTCTTCAACACCAGGTGACAGTCTGGGACCATTTCCGCGTTCACTTTTTCCTTCATGGGAAACACGGAGTGACTTGTACATGCATCCCACGAGTTAAAAAGATCAGTATTTACATAATAATAAATTTAAATAAATGGAATAAAAATTATTATATTTGAACGGTAGGATTTGCTTACAGTGAAGTAGGAGTTGCAAAAGTTACATTGGTTTAAGATCTAACAGACGTTCTCTTACTATTCTGATCTCTTGAGGTGCTTTCAGTGTTAAAATCCCCACTTTCCTGTCAAACCTTAAAACGAGCAGAGCAGCAGGTGCAGGAGGGGCTGGGCCCTGCCCCCCAACTGCCAGCGCCTCCCCGCTGGACCACCTCGATGGATCCAGAGACCTCACAGGAGCGACCTCACCTCCTGCATAGCCCAGCTCACCGCCAGGAGCACAC
CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAAATGCGCCCATGTTTGCAGGGTTCTTGACTTGGAGAGGACATGGCCGTGCTGATATGGCCCACTCCAGCAGGGTCTCCACCAGCCCGATACGGCCCACTCCTCTGAGGTCACAGCTGGCCTGTTATGACCCACTCCTCCAGGGACTTGGCCGGCCCCATACGACCCACTCCACCTGGGACATGGCCAGCCCGATACGACCCACTCCACCTGGGACGTGGCCAGCCTGATATGACCCACTCCACCTGGGACATGGCTGACCCAATACGGCCCACTGCTCCAGGGACACCACCGCCTCAATAAACCCTAATAGGTGTACTGGGAACATGGCCGGCCTGATATGGTCCACTCCACCTGGGACATGGGCCAGACTGATATGACCCAGTCCACCTGGGACATGGCCAGCCCAATACAGCCCACTCCACCTGGGACACCACCGCCTCAACACACCCTAATAGAGCCCACTCCATTGGGAACAGGGCTGGCCTGATATGGCCCACTCCACCTGGGACATGGCCCACTCCACCTGGGACATGGCCGACCTGATATAGCTCACACCTCTAGGGTCACAGCTGGACCAATACAGCCCACGGCTCCAGGGATGTGGCTGGCTGATATGGCCTACTCCTCTAGGGTCACAGCTGGCCTGATATGACCCTCTGCTCCAGGGATGTGGCTGGCCTGACACGGCTCCCAGCAGCCCCTCACAAAGCCTCATTGTTCCAGTGAAGAAGCCCTTGTGTGACTGAGTACGTTCACTGTTTCCGCCCAGAACTGGCCAAAACCTTTGGATAACAGAGAATTTGTTTAGCAAAAAAAAGCGGTGCCCCTAGGCTCTCATCTCCAAGAGCCGCCCCCTAGGGAGGACGCCTTGGGATTTCCCACACTGTCTTGCAGTTTGTAGGATCCACTGGCCACATCTGGGATGAGGCACTGCCCGCCCTCAGCACCTGCTCCAGCTCCTGCCCTCACCAATTCTCTGGGCAGAGCCTCTGGAAGGCACTCCCTGGCCCCTGCCCTTCTTGCTACCCCAGCGCACTGCCCACAGCCACCCTAATCATTATCTAAAGCCACTGCCGTGGCCCCTGAGAAAGTCACAGAGGGTCCGTCCTGACTTGCCAGACACTGCTGCAGCCGCCTCTCCCTGCTTCTAAGATGGTCCAGGCACCTGCTTGTGCCTAAATGCCCTTCTCCCTTGGCTTAGGACAGAACTGTGGCACATAACTCTGAGCCCAGCTGGGATATCCCCTGCAGGACATAGCGAATTTCTTTCTCATAAAGATTTCCCTCCCACTCTGGGGACCTGGAAGGCCCTGCTGCTGGCACTGCCCAGCGCCATCCCTGAAGGCCACAGGCTCACCTGCTCTCAGACGGCACATGGCCCACCAACAGGAACTTGCTTCACCCTGTGACCACTGCGGGGACGCCCCTCAGTGTGGCAAAATCTAACACACCACCGAAAGAAAACTAAACTGAGTGTGCTTTCAAAGTGAGTTTGAGTGTTCAGCAGTGGTGTACATGCGTTAGGTTCATTTCTTTTGAAATAAATAATAAGGAAATGTTTAGGGATATCTTTTAAAAACGATGCTCTATGAAAGGAGAAAATATTTAAAAATCTGCAGGTGATTCCTTCTCTAAGTGGAAGACAGCGGTGGGCCCTGCGTGGCTTGTGGCGTGGAAGGTGCCCGTGCAGGAGACCTCCCGGCCCACAGCATGCCTGGGCACTGACCTTTTTTCCTAAGAGGGAAGTCATCTTTGGCGTCGTACATTCCCAGGACCGGGTGGTTATAGGAGGTCGACACTCCGCTCTGGGGTGGAGAACTCTGGTCAAGGGAACTGTGCTGCGTTTTCCTGGAGAGAAGGCAAAGACAGATGGTTTAGTTTACCCAGCGCACTGCCCCAGGCATGCTGCAGCCGAGAAGCCACACACGATGATCTTTCCCTTGAAACCTCAGCCCCACCTCAACAGACACACCTTTTCCCTAGGGTCAAGCTGAAATTAAATGGAAACAAACAGGATGCTAAACAAGCAAGCAAACATCCGATGCCCACATCCTCCTCTGCGGGACCAGCAGTGCTTGGGGATGGGATGGGCAGCACCTCTGGCCGTTTTCCTGGTGGCTGTTCTCCACCTGGCCCTGTCCTCTCAGATGGCTCCAGCCCAGTCAGTTCGCTACCAGGGCCACCACTGGCCACTCAGAGAGCCTATCCCCGGTGGGGAGAGGAAGAGGAAAACAGTAGGCTGCTGCATAAGGAATCAAAGGTGAGTTCATAGGCAGCTGAGACGGGGCAAAAAACGGTCTAAGAACAAACGCTGTGATGTGTGGGACTCTCTCTGCCACCTGGAGAGAAGAAGCCCATGGGGCTGTCTCTCAGAAGGCACCCATCGTCATCCGTGCCTTCACCAAACTCACCCTGGTCACCTCCCTCTCTGGGGGAGGAACAGGATGGCAGCTACTGATACCCTGTGCCCAGGGAGCTGACCTACGAAAGGGACTTCCTGTATGAACAGCTGGGTACAACTCCACACCCTCCAGGCAGCAAGACAGGAATCGTCTGCCAGGAGAATGGCCGGAGGACGGACATGGGGAGGAGGCGGGCCCTGGGCCGGGACGGGGATGTGGGCTGCCACCCGGATGACCATCAGCAAGGCCTTTTTTGACGGCACTGACAGCTCAGTCTTGCTCAAAACACTGTGCTGAGTGGAATAAATTCTGAGTCTTTAAACTGCGTAATCTGCTTAATGACTACAAACAAATTTGCCGACTTACTTATTTGGAATTGGTTAGACTATTTGAATACATAGTATGGCACACCAATGCACCTGGAGTTATTTGAATTAAGAATGGGAGCTTGTAAATGGGTACAGGTGTATATTTAAATATTTGAGAGCACACCAGTGCAAAGAATGTGCTGAAGGGAACTCATAGACAAAATTGAGGAGCCGAGCCCAGGCACCTGGGCAGTGGGGTGCTGGGCCGTGCATCACAGGAGGAGCTCAGGGAGCTCCGGAAAACTGCACAGCTTCAGGCCACGCCCCAACCCCGCCCACTGCTCAGGGCACACCTCCAACCCCAAGCAGCTTCTCGCTGTTTCCCGGGGAATTCCACCATGCAGTCAGGCTCGGACTGCAGGGCTGGGACACGCCTGTCTGCACCTGTGCAGGGGCTGTGGCCTCCAAGTGGGACCACGTCCTTGTGCAAGCCTCCCTTCTCTTCCCTGTAGTTCTACCCCTCGTCTCACAATCTCATGAAAAGGTCTGGGGGCAACACTCTTTCTCTACCAAATAGTATTTTCAGATTGTATCCTATGGGGAATGTGATCTTGGCTGATTCCAAACTTCTTCAACACCAGGTGACAGTCTGGGACCATTTCCGCGTTCACTTTTTCCTTCATGGGAAACACGGAGTGACTTGTACATGCATCCCACGAGTTAAAAAGATCAGTATTTACATAATAATAAATTTAAATAAATGGAATAAAAATTATTATATTTGAACGGTAGGATTTGCTTACAGTGAAGTAGGAGTTGCAAAAGTTACATTGGTTTAAGATCTAACAGACGTTCTCTTACTATTCTGATCTCTTGAGGTGCTTTCAGTGTTAAAATCCCCACTTTCCTGTCAAACCTTAAAACGAGCAGAGCAGCAGGTGCAGGAGGGGCTGGGCCCTGCCCCCCAACTGCCAGCGCCTCCCCGCTGGACCACCTCGATGGATCCAGAGACCTCACAGGAGCGACCTCACCTCCTGCATAGCCCAGCTCACCGCCAGGAGCACAC
Task1_train_5742
This is a variant in HDAC4 (histone deacetylase 4), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Intellectual disability, severe
CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAAATGCGCCCATGTTTGCAGGGTTCTTGACTTGGAGAGGACATGGCCGTGCTGATATGGCCCACTCCAGCAGGGTCTCCACCAGCCCGATACGGCCCACTCCTCTGAGGTCACAGCTGGCCTGTTATGACCCACTCCTCCAGGGACTTGGCCGGCCCCATACGACCCACTCCACCTGGGACATGGCCAGCCCGATACGACCCACTCCACCTGGGACGTGGCCAGCCTGATATGACCCACTCCACCTGGGACATGGCTGACCCAATACGGCCCACTGCTCCAGGGACACCACCGCCTCAATAAACCCTAATAGGTGTACTGGGAACATGGCCGGCCTGATATGGTCCACTCCACCTGGGACATGGGCCAGACTGATATGACCCAGTCCACCTGGGACATGGCCAGCCCAATACAGCCCACTCCACCTGGGACACCACCGCCTCAACACACCCTAATAGAGCCCACTCCATTGGGAACAGGGCTGGCCTGATATGGCCCACTCCACCTGGGACATGGCCCACTCCACCTGGGACATGGCCGACCTGATATAGCTCACACCTCTAGGGTCACAGCTGGACCAATACAGCCCACGGCTCCAGGGATGTGGCTGGCTGATATGGCCTACTCCTCTAGGGTCACAGCTGGCCTGATATGACCCTCTGCTCCAGGGATGTGGCTGGCCTGACACGGCTCCCAGCAGCCCCTCACAAAGCCTCATTGTTCCAGTGAAGAAGCCCTTGTGTGACTGAGTACGTTCACTGTTTCCGCCCAGAACTGGCCAAAACCTTTGGATAACAGAGAATTTGTTTAGCAAAAAAAAGCGGTGCCCCTAGGCTCTCATCTCCAAGAGCCGCCCCCTAGGGAGGACGCCTTGGGATTTCCCACACTGTCTTGCAGTTTGTAGGATCCACTGGCCACATCTGGGATGAGGCACTGCCCGCCCTCAGCACCTGCTCCAGCTCCTGCCCTCACCAATTCTCTGGGCAGAGCCTCTGGAAGGCACTCCCTGGCCCCTGCCCTTCTTGCTACCCCAGCGCACTGCCCACAGCCACCCTAATCATTATCTAAAGCCACTGCCGTGGCCCCTGAGAAAGTCACAGAGGGTCCGTCCTGACTTGCCAGACACTGCTGCAGCCGCCTCTCCCTGCTTCTAAGATGGTCCAGGCACCTGCTTGTGCCTAAATGCCCTTCTCCCTTGGCTTAGGACAGAACTGTGGCACATAACTCTGAGCCCAGCTGGGATATCCCCTGCAGGACATAGCGAATTTCTTTCTCATAAAGATTTCCCTCCCACTCTGGGGACCTGGAAGGCCCTGCTGCTGGCACTGCCCAGCGCCATCCCTGAAGGCCACAGGCTCACCTGCTCTCAGACGGCACATGGCCCACCAACAGGAACTTGCTTCACCCTGTGACCACTGCGGGGACGCCCCTCAGTGTGGCAAAATCTAACACACCACCGAAAGAAAACTAAACTGAGTGTGCTTTCAAAGTGAGTTTGAGTGTTCAGCAGTGGTGTACATGCGTTAGGTTCATTTCTTTTGAAATAAATAATAAGGAAATGTTTAGGGATATCTTTTAAAAACGATGCTCTATGAAAGGAGAAAATATTTAAAAATCTGCAGGTGATTCCTTCTCTAAGTGGAAGACAGCGGTGGGCCCTGCGTGGCTTGTGGCGTGGAAGGTGCCCGTGCAGGAGACCTCCCGGCCCACAGCATGCCTGGGCACTGACCTGTTTTCCTAAGAGGGAAGTCATCTTTGGCGTCGTACATTCCCAGGACCGGGTGGTTATAGGAGGTCGACACTCCGCTCTGGGGTGGAGAACTCTGGTCAAGGGAACTGTGCTGCGTTTTCCTGGAGAGAAGGCAAAGACAGATGGTTTAGTTTACCCAGCGCACTGCCCCAGGCATGCTGCAGCCGAGAAGCCACACACGATGATCTTTCCCTTGAAACCTCAGCCCCACCTCAACAGACACACCTTTTCCCTAGGGTCAAGCTGAAATTAAATGGAAACAAACAGGATGCTAAACAAGCAAGCAAACATCCGATGCCCACATCCTCCTCTGCGGGACCAGCAGTGCTTGGGGATGGGATGGGCAGCACCTCTGGCCGTTTTCCTGGTGGCTGTTCTCCACCTGGCCCTGTCCTCTCAGATGGCTCCAGCCCAGTCAGTTCGCTACCAGGGCCACCACTGGCCACTCAGAGAGCCTATCCCCGGTGGGGAGAGGAAGAGGAAAACAGTAGGCTGCTGCATAAGGAATCAAAGGTGAGTTCATAGGCAGCTGAGACGGGGCAAAAAACGGTCTAAGAACAAACGCTGTGATGTGTGGGACTCTCTCTGCCACCTGGAGAGAAGAAGCCCATGGGGCTGTCTCTCAGAAGGCACCCATCGTCATCCGTGCCTTCACCAAACTCACCCTGGTCACCTCCCTCTCTGGGGGAGGAACAGGATGGCAGCTACTGATACCCTGTGCCCAGGGAGCTGACCTACGAAAGGGACTTCCTGTATGAACAGCTGGGTACAACTCCACACCCTCCAGGCAGCAAGACAGGAATCGTCTGCCAGGAGAATGGCCGGAGGACGGACATGGGGAGGAGGCGGGCCCTGGGCCGGGACGGGGATGTGGGCTGCCACCCGGATGACCATCAGCAAGGCCTTTTTTGACGGCACTGACAGCTCAGTCTTGCTCAAAACACTGTGCTGAGTGGAATAAATTCTGAGTCTTTAAACTGCGTAATCTGCTTAATGACTACAAACAAATTTGCCGACTTACTTATTTGGAATTGGTTAGACTATTTGAATACATAGTATGGCACACCAATGCACCTGGAGTTATTTGAATTAAGAATGGGAGCTTGTAAATGGGTACAGGTGTATATTTAAATATTTGAGAGCACACCAGTGCAAAGAATGTGCTGAAGGGAACTCATAGACAAAATTGAGGAGCCGAGCCCAGGCACCTGGGCAGTGGGGTGCTGGGCCGTGCATCACAGGAGGAGCTCAGGGAGCTCCGGAAAACTGCACAGCTTCAGGCCACGCCCCAACCCCGCCCACTGCTCAGGGCACACCTCCAACCCCAAGCAGCTTCTCGCTGTTTCCCGGGGAATTCCACCATGCAGTCAGGCTCGGACTGCAGGGCTGGGACACGCCTGTCTGCACCTGTGCAGGGGCTGTGGCCTCCAAGTGGGACCACGTCCTTGTGCAAGCCTCCCTTCTCTTCCCTGTAGTTCTACCCCTCGTCTCACAATCTCATGAAAAGGTCTGGGGGCAACACTCTTTCTCTACCAAATAGTATTTTCAGATTGTATCCTATGGGGAATGTGATCTTGGCTGATTCCAAACTTCTTCAACACCAGGTGACAGTCTGGGACCATTTCCGCGTTCACTTTTTCCTTCATGGGAAACACGGAGTGACTTGTACATGCATCCCACGAGTTAAAAAGATCAGTATTTACATAATAATAAATTTAAATAAATGGAATAAAAATTATTATATTTGAACGGTAGGATTTGCTTACAGTGAAGTAGGAGTTGCAAAAGTTACATTGGTTTAAGATCTAACAGACGTTCTCTTACTATTCTGATCTCTTGAGGTGCTTTCAGTGTTAAAATCCCCACTTTCCTGTCAAACCTTAAAACGAGCAGAGCAGCAGGTGCAGGAGGGGCTGGGCCCTGCCCCCCAACTGCCAGCGCCTCCCCGCTGGACCACCTCGATGGATCCAGAGACCTCACAGGAGCGACCTCACCTCCTGCATAGCCCAGCTCACCGCCAGGAGCACAC
CCCACCACTCACCGCGGACTTTGGTTTTGTTGATGGAATTTGATTAATAATAGCATCAGTCCCCAGAAAGGGAACCTGGAGGGCGATTTGTAAGAATCAGCCCACAGATTCTCTCCTGATACTACTGGGCACATCTTTCTGGAAAAAATACTGATCTCTAAATCCGTTCTTTCTGTCAAGCTTTAGGGCGCTCTCCAGGTGAAATCCAGGACCATTCTCAGTAGAAGCATCAGTAAGAACCACAGGCTCACACCCATGAAACAAAGCAGCAGAAGCTCTAGGTTCACTTTTCCCAATAAAGGTTTATGGCCCAAATGGAAATGCGCCCATGTTTGCAGGGTTCTTGACTTGGAGAGGACATGGCCGTGCTGATATGGCCCACTCCAGCAGGGTCTCCACCAGCCCGATACGGCCCACTCCTCTGAGGTCACAGCTGGCCTGTTATGACCCACTCCTCCAGGGACTTGGCCGGCCCCATACGACCCACTCCACCTGGGACATGGCCAGCCCGATACGACCCACTCCACCTGGGACGTGGCCAGCCTGATATGACCCACTCCACCTGGGACATGGCTGACCCAATACGGCCCACTGCTCCAGGGACACCACCGCCTCAATAAACCCTAATAGGTGTACTGGGAACATGGCCGGCCTGATATGGTCCACTCCACCTGGGACATGGGCCAGACTGATATGACCCAGTCCACCTGGGACATGGCCAGCCCAATACAGCCCACTCCACCTGGGACACCACCGCCTCAACACACCCTAATAGAGCCCACTCCATTGGGAACAGGGCTGGCCTGATATGGCCCACTCCACCTGGGACATGGCCCACTCCACCTGGGACATGGCCGACCTGATATAGCTCACACCTCTAGGGTCACAGCTGGACCAATACAGCCCACGGCTCCAGGGATGTGGCTGGCTGATATGGCCTACTCCTCTAGGGTCACAGCTGGCCTGATATGACCCTCTGCTCCAGGGATGTGGCTGGCCTGACACGGCTCCCAGCAGCCCCTCACAAAGCCTCATTGTTCCAGTGAAGAAGCCCTTGTGTGACTGAGTACGTTCACTGTTTCCGCCCAGAACTGGCCAAAACCTTTGGATAACAGAGAATTTGTTTAGCAAAAAAAAGCGGTGCCCCTAGGCTCTCATCTCCAAGAGCCGCCCCCTAGGGAGGACGCCTTGGGATTTCCCACACTGTCTTGCAGTTTGTAGGATCCACTGGCCACATCTGGGATGAGGCACTGCCCGCCCTCAGCACCTGCTCCAGCTCCTGCCCTCACCAATTCTCTGGGCAGAGCCTCTGGAAGGCACTCCCTGGCCCCTGCCCTTCTTGCTACCCCAGCGCACTGCCCACAGCCACCCTAATCATTATCTAAAGCCACTGCCGTGGCCCCTGAGAAAGTCACAGAGGGTCCGTCCTGACTTGCCAGACACTGCTGCAGCCGCCTCTCCCTGCTTCTAAGATGGTCCAGGCACCTGCTTGTGCCTAAATGCCCTTCTCCCTTGGCTTAGGACAGAACTGTGGCACATAACTCTGAGCCCAGCTGGGATATCCCCTGCAGGACATAGCGAATTTCTTTCTCATAAAGATTTCCCTCCCACTCTGGGGACCTGGAAGGCCCTGCTGCTGGCACTGCCCAGCGCCATCCCTGAAGGCCACAGGCTCACCTGCTCTCAGACGGCACATGGCCCACCAACAGGAACTTGCTTCACCCTGTGACCACTGCGGGGACGCCCCTCAGTGTGGCAAAATCTAACACACCACCGAAAGAAAACTAAACTGAGTGTGCTTTCAAAGTGAGTTTGAGTGTTCAGCAGTGGTGTACATGCGTTAGGTTCATTTCTTTTGAAATAAATAATAAGGAAATGTTTAGGGATATCTTTTAAAAACGATGCTCTATGAAAGGAGAAAATATTTAAAAATCTGCAGGTGATTCCTTCTCTAAGTGGAAGACAGCGGTGGGCCCTGCGTGGCTTGTGGCGTGGAAGGTGCCCGTGCAGGAGACCTCCCGGCCCACAGCATGCCTGGGCACTGACCTTTTTTCCTAAGAGGGAAGTCATCTTTGGCGTCGTACATTCCCAGGACCGGGTGGTTATAGGAGGTCGACACTCCGCTCTGGGGTGGAGAACTCTGGTCAAGGGAACTGTGCTGCGTTTTCCTGGAGAGAAGGCAAAGACAGATGGTTTAGTTTACCCAGCGCACTGCCCCAGGCATGCTGCAGCCGAGAAGCCACACACGATGATCTTTCCCTTGAAACCTCAGCCCCACCTCAACAGACACACCTTTTCCCTAGGGTCAAGCTGAAATTAAATGGAAACAAACAGGATGCTAAACAAGCAAGCAAACATCCGATGCCCACATCCTCCTCTGCGGGACCAGCAGTGCTTGGGGATGGGATGGGCAGCACCTCTGGCCGTTTTCCTGGTGGCTGTTCTCCACCTGGCCCTGTCCTCTCAGATGGCTCCAGCCCAGTCAGTTCGCTACCAGGGCCACCACTGGCCACTCAGAGAGCCTATCCCCGGTGGGGAGAGGAAGAGGAAAACAGTAGGCTGCTGCATAAGGAATCAAAGGTGAGTTCATAGGCAGCTGAGACGGGGCAAAAAACGGTCTAAGAACAAACGCTGTGATGTGTGGGACTCTCTCTGCCACCTGGAGAGAAGAAGCCCATGGGGCTGTCTCTCAGAAGGCACCCATCGTCATCCGTGCCTTCACCAAACTCACCCTGGTCACCTCCCTCTCTGGGGGAGGAACAGGATGGCAGCTACTGATACCCTGTGCCCAGGGAGCTGACCTACGAAAGGGACTTCCTGTATGAACAGCTGGGTACAACTCCACACCCTCCAGGCAGCAAGACAGGAATCGTCTGCCAGGAGAATGGCCGGAGGACGGACATGGGGAGGAGGCGGGCCCTGGGCCGGGACGGGGATGTGGGCTGCCACCCGGATGACCATCAGCAAGGCCTTTTTTGACGGCACTGACAGCTCAGTCTTGCTCAAAACACTGTGCTGAGTGGAATAAATTCTGAGTCTTTAAACTGCGTAATCTGCTTAATGACTACAAACAAATTTGCCGACTTACTTATTTGGAATTGGTTAGACTATTTGAATACATAGTATGGCACACCAATGCACCTGGAGTTATTTGAATTAAGAATGGGAGCTTGTAAATGGGTACAGGTGTATATTTAAATATTTGAGAGCACACCAGTGCAAAGAATGTGCTGAAGGGAACTCATAGACAAAATTGAGGAGCCGAGCCCAGGCACCTGGGCAGTGGGGTGCTGGGCCGTGCATCACAGGAGGAGCTCAGGGAGCTCCGGAAAACTGCACAGCTTCAGGCCACGCCCCAACCCCGCCCACTGCTCAGGGCACACCTCCAACCCCAAGCAGCTTCTCGCTGTTTCCCGGGGAATTCCACCATGCAGTCAGGCTCGGACTGCAGGGCTGGGACACGCCTGTCTGCACCTGTGCAGGGGCTGTGGCCTCCAAGTGGGACCACGTCCTTGTGCAAGCCTCCCTTCTCTTCCCTGTAGTTCTACCCCTCGTCTCACAATCTCATGAAAAGGTCTGGGGGCAACACTCTTTCTCTACCAAATAGTATTTTCAGATTGTATCCTATGGGGAATGTGATCTTGGCTGATTCCAAACTTCTTCAACACCAGGTGACAGTCTGGGACCATTTCCGCGTTCACTTTTTCCTTCATGGGAAACACGGAGTGACTTGTACATGCATCCCACGAGTTAAAAAGATCAGTATTTACATAATAATAAATTTAAATAAATGGAATAAAAATTATTATATTTGAACGGTAGGATTTGCTTACAGTGAAGTAGGAGTTGCAAAAGTTACATTGGTTTAAGATCTAACAGACGTTCTCTTACTATTCTGATCTCTTGAGGTGCTTTCAGTGTTAAAATCCCCACTTTCCTGTCAAACCTTAAAACGAGCAGAGCAGCAGGTGCAGGAGGGGCTGGGCCCTGCCCCCCAACTGCCAGCGCCTCCCCGCTGGACCACCTCGATGGATCCAGAGACCTCACAGGAGCGACCTCACCTCCTGCATAGCCCAGCTCACCGCCAGGAGCACAC
Task1_train_5743
Here is a mutation in NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 22
GTTTACATTTTGATCAGTGAACTTTTAGTGACATGTGCAGTGAGCCAGCTGTCCCTCTGGTCATCCTAGGAGACTACTGTATCACTCACATCCCATCAGGCAGAGAAAGAAGGTAAGCACCAACGGCCTAAGAACACCAACATCACAGGGCCAAGAACAGAGCTGCCATCTGTAGGCACCAACTTCCTAATTTACATCCAAACGTTGAGGAGAGGGAAGTTGAGTGCCCCGGCCATCCTTGTGCCTCCAGGCCCTCGAGAGGCAAAGTGTTGGTGCAGTCTGCACAGAGCATCCTGGGTAGAGGCAGGAAGCAGCACAGGGCAGGCTCAGGCCAAGGGCTCGAGACTTAACACAAAAGGCAGATCCCCAAATAGCTACTCATGTTTCCTGCATTTTCACAAGTCAAAGACCCTCAAATTACTCCAATCTTGATTTATAAATAATCAGAATTATGATACAACAGCACTTCTCATTACAAAATCATCTCTGAATTTTGTAGAATTTATAGCCCTAAAAGAAATCAAAGTCACTCACTCCAGATACATCTCCTGAGTGCACGCTGGATATGAGGCCTGTACCAGGAACTGGGCGTTGCAGTGATGAGAAGCAGCAGGGGGTGGGTGGTGGAGGACAGACCCAAGCAGGATGAGATTCCCGGGTGGCCAGCACCAGCCAGGACAGAAGAGGCAGAGCTGGGGATCACCGGTGGGAAGGTCAATGCACAGAGACACTGCAAGAGGCAGCCGAGGGATATTTGCTGGGTGTGCAGGGTAAAGGTCTGGGCCAAGACCTACGGTGGTATCCACGCTATCCACAGCTGTGTGACTAGGTACGTCCTCAAGAAACTGAATTCAACGGACGAGACACTGCCCGGGGTCACTGTGCCTGCCAGAGCCCAGCAGCAGGCAGAAGGAACCAGAAAAAGAGAGCCCGGCCCCAGAAGGCAGCAGCTGGTGGAGGAGTGAGAGAGTGGGGGAGGAGGAGGGCATGGAACCAGGAGAAGGGAGTGGAGAAGAGGGGCAGCGGTGCTGCTTCCAGGGCCAGGGAGCAGCATGAAGACAGACAAGGGTCTGCCGCATCTGGAATGGCGAGGCCGTCTCCTTGGCAGGAGCAGTTTCAATAGAGTGGTGCAGATGAAGACAGCTTTTTTCAACCTTACCTAATCGGTATGGTTTTTGTTTTTCATTTAATAGATACCAAAGAATCCACACAATAGCTGAATGGATATAAGTCATATCGTATTACTCCTCTGCTTCAAACCCCCAAACGGCATCTCATCTCATCAGAAGAAAACCCACCAAACGCACCAAGACCTATCCGCCTTCTGCTGTGGCCTCCCCTCCTAGTCCTACCCCCTTCTGCAGTGGCCTCCCTTCCTAGTCCTGCCCTCTTCCACCGCGGCCTCCCCTCCTAGTCCTGCCCCATTCCGCCATGGCCTCCTCTCCTAGTCCTGCTCCATTCCGCTGTGGCCTCCCCTCCCCACACTTTTTCTGGCCACACTGGCTTGGCTGCTGGGCGCACCTTCCCACCACACTCCTGCCTGAAGAGCCTCTGCACCTGCCAAGCCCCTGCCCTCTGCTCACCCCACGGCCCACAGGACCCAATCCTGGCCTCACTTAGGCCTCATCCCGAGAGAGGCCCTTTGTCACCCCTAGCTACTCACCACCCTGTTACTCAGGGTTACTTCTCTCCCTGGCCTTTGTGACCTGACGCAGTTTTATCTATTTGTTTACTCTGTCTCACCTACTAAAACACATTTTCAAAGACATCAAGAATTTTATCTGACACTATATCTCTTAAATCTGGAACGGTGTTGCACATAGTGGAAGCAAAATGCCTGTTAAATTAATAATGGCACTCAATAAATTAAGTATCAGACCAGGGGATTCAGGAGCTGTTTGGAAGAAAAAATACCTCTAAGTATTGGGTTGGTGCTGCTAACACCTAACTTGAAACATAATTATTTCAAACTTCCCTAAGTTTCCCCATCATGCAAGTAGACCCCAGACATGCAGCAGCCCCCACACAGATGCACTTACAGTAATCGCAGGTGGTATAAAGTGCGATTGTCCTGCTTGAGCCACGGCCCTTTATCGAACTTCAGGTATTCAATGTCCTCTACCACCTAAGACAGGAAAAATTCCAATTTAAACAGAGAACCCCATTTTAGAAATTTAAATGAAATAACTTTTTTTTGAGACAGGGTCCGGCTCTATCATCCAGGCTGGAAAGTAGTGGCACAATCACAGCACACTGCAGCCTTGGCCTGCTGGGCTCAAGCAATCCTCCCACCTCAGCACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCATATGCCACCACACCTGGCTGATGTTTGTATTTTTAGTAGAGATGGGGTCTCACCACGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCCACCATGGCTGGCCAAGAGGTAACATTTTAATACATTATAAGCTATGAATATTTGGCAGGAAGAATCACACCGTAACAGTCAGAATGGAAGTGAAGCTGGCTGACCTTTAATGAAATGGTGGGGTTGAGTGTTGCATCACAGTATGGCCTTGCCTAGCTAACACTCAGGGATCAAGTAGGACAGACATTACCCTGCAGGCTGGGAGAAAAGGACAGGTGAGAACAATGAAGACTAGGGGAGAAAAATCAGCCTTCAGGACAGGCTACTCATTTCTTCCCAAGTAAGTTCCTTCTAAAAGGCAAAACCTAGCCCCTCAAAATGACAAAAGAATAAGATACAAACCCATTACCTAGAGAGACCTAATGATCTAGGTGCCCGGCCTCAAGGCTGGCTGTCTACACAGTCTGACTTTCCAGAGGAGTAATCTTTCCATACGCATTCTCTCCTCACAACAGGCCAAACTCATGAACCCTCTTTAGTTTCGGGAATTTGAGTAAATTCAAAAATGAACTCAAATAACATAGTATTGGAGACAAAACGTATTATTCTTCTTCTAAGATACATGCCACCTAAACAGTCTCTCAAAGGTATATAAATACTCTAAAAACAGAAACAGAAGGCGGAGGAGAAAATGAAATGTAATTTAATCAGTCTGAGTAGAATAAACCAAGGTCTCAAAAGAACTTTACAACTGGTAGTAGGAGAGCCTGGGCGAGAATGCAGGGCTTCCCTCTGCAAGGAGAATGCTACTCTCTGTGCAGAAAAGCTCAGTCAACCTCCCTCTTCTCACCCTCCCAATGCTGAGAGGCAACTGAAGCACGCTTGTCACCCCAGCAGCCAACTATGCAAAGCTTCTCTGTTACACGGGCACCACTCACACTTCAAGACCAGATCCTGAAACTTGTATTTTCTTCTAGAATTGTTACACCTCGTTTTGTTTTTAGTAATTTATGCTTAATATATAAAATACAAAATAAAAAACTTGTTTTTTAACAAATGGATGCTCAGTTGCCTCAGTACCATTTAGGAAACAATTTTCCTCTACTTCATTTTTGTAATTATCCTTTAAGGAACTAACTTTGCCAAACTGAAGATACTTACACACAGGTGCATACATGTTTCTGGACTCTTGTTTTGTTCCATTAAGCTCTTTATTAATTCTTGCATTAACACCACAATGCTCTCCTTACTACAATCGTATAGTTTGTTTTTGTATGTGAGAGGGCAAATGTTCTTTCGTTATTCTTCTTCAGATGTTTTAATGTTTGTCTGGCTGTTATTCATAAAGTTCCCTGAAAACTACACCAAGATTTACTAGACTTTCACAAAACACACGAATTTAAGGAAAACTGTTATCTTTACATGTAAATCTTTCCCATTAACTAATCCAACTTTCAATTTTCCATCTCTTTAATAAAAATGGTAGAGTGGATGACCCAAGATTCTGTGACATCTGTAATTTTCAGATCGTAGAAACCGAATTACTTGAAAGAAACTCGAAACCTCATGGCCAGGGGAGTGTGATGATGGGTTTGACTGGCACTGCTTTCAGGTGATAAAACAGTGATGTTTGTTAAGACCAGTGGGAATCTAACTGACGATCTGATTTGCAAGAACCTTACA
GTTTACATTTTGATCAGTGAACTTTTAGTGACATGTGCAGTGAGCCAGCTGTCCCTCTGGTCATCCTAGGAGACTACTGTATCACTCACATCCCATCAGGCAGAGAAAGAAGGTAAGCACCAACGGCCTAAGAACACCAACATCACAGGGCCAAGAACAGAGCTGCCATCTGTAGGCACCAACTTCCTAATTTACATCCAAACGTTGAGGAGAGGGAAGTTGAGTGCCCCGGCCATCCTTGTGCCTCCAGGCCCTCGAGAGGCAAAGTGTTGGTGCAGTCTGCACAGAGCATCCTGGGTAGAGGCAGGAAGCAGCACAGGGCAGGCTCAGGCCAAGGGCTCGAGACTTAACACAAAAGGCAGATCCCCAAATAGCTACTCATGTTTCCTGCATTTTCACAAGTCAAAGACCCTCAAATTACTCCAATCTTGATTTATAAATAATCAGAATTATGATACAACAGCACTTCTCATTACAAAATCATCTCTGAATTTTGTAGAATTTATAGCCCTAAAAGAAATCAAAGTCACTCACTCCAGATACATCTCCTGAGTGCACGCTGGATATGAGGCCTGTACCAGGAACTGGGCGTTGCAGTGATGAGAAGCAGCAGGGGGTGGGTGGTGGAGGACAGACCCAAGCAGGATGAGATTCCCGGGTGGCCAGCACCAGCCAGGACAGAAGAGGCAGAGCTGGGGATCACCGGTGGGAAGGTCAATGCACAGAGACACTGCAAGAGGCAGCCGAGGGATATTTGCTGGGTGTGCAGGGTAAAGGTCTGGGCCAAGACCTACGGTGGTATCCACGCTATCCACAGCTGTGTGACTAGGTACGTCCTCAAGAAACTGAATTCAACGGACGAGACACTGCCCGGGGTCACTGTGCCTGCCAGAGCCCAGCAGCAGGCAGAAGGAACCAGAAAAAGAGAGCCCGGCCCCAGAAGGCAGCAGCTGGTGGAGGAGTGAGAGAGTGGGGGAGGAGGAGGGCATGGAACCAGGAGAAGGGAGTGGAGAAGAGGGGCAGCGGTGCTGCTTCCAGGGCCAGGGAGCAGCATGAAGACAGACAAGGGTCTGCCGCATCTGGAATGGCGAGGCCGTCTCCTTGGCAGGAGCAGTTTCAATAGAGTGGTGCAGATGAAGACAGCTTTTTTCAACCTTACCTAATCGGTATGGTTTTTGTTTTTCATTTAATAGATACCAAAGAATCCACACAATAGCTGAATGGATATAAGTCATATCGTATTACTCCTCTGCTTCAAACCCCCAAACGGCATCTCATCTCATCAGAAGAAAACCCACCAAACGCACCAAGACCTATCCGCCTTCTGCTGTGGCCTCCCCTCCTAGTCCTACCCCCTTCTGCAGTGGCCTCCCTTCCTAGTCCTGCCCTCTTCCACCGCGGCCTCCCCTCCTAGTCCTGCCCCATTCCGCCATGGCCTCCTCTCCTAGTCCTGCTCCATTCCGCTGTGGCCTCCCCTCCCCACACTTTTTCTGGCCACACTGGCTTGGCTGCTGGGCGCACCTTCCCACCACACTCCTGCCTGAAGAGCCTCTGCACCTGCCAAGCCCCTGCCCTCTGCTCACCCCACGGCCCACAGGACCCAATCCTGGCCTCACTTAGGCCTCATCCCGAGAGAGGCCCTTTGTCACCCCTAGCTACTCACCACCCTGTTACTCAGGGTTACTTCTCTCCCTGGCCTTTGTGACCTGACGCAGTTTTATCTATTTGTTTACTCTGTCTCACCTACTAAAACACATTTTCAAAGACATCAAGAATTTTATCTGACACTATATCTCTTAAATCTGGAACGGTGTTGCACATAGTGGAAGCAAAATGCCTGTTAAATTAATAATGGCACTCAATAAATTAAGTATCAGACCAGGGGATTCAGGAGCTGTTTGGAAGAAAAAATACCTCTAAGTATTGGGTTGGTGCTGCTAACACCTAACTTGAAACATAATTATTTCAAACTTCCCTAAGTTTCCCCATCATGCAAGTAGACCCCAGACATGCAGCAGCCCCCACACAGATGCACTTACAGTAATCGCGGGTGGTATAAAGTGCGATTGTCCTGCTTGAGCCACGGCCCTTTATCGAACTTCAGGTATTCAATGTCCTCTACCACCTAAGACAGGAAAAATTCCAATTTAAACAGAGAACCCCATTTTAGAAATTTAAATGAAATAACTTTTTTTTGAGACAGGGTCCGGCTCTATCATCCAGGCTGGAAAGTAGTGGCACAATCACAGCACACTGCAGCCTTGGCCTGCTGGGCTCAAGCAATCCTCCCACCTCAGCACCTCAGCCTCCCGAGTTGCTGGGACTACAGGCATATGCCACCACACCTGGCTGATGTTTGTATTTTTAGTAGAGATGGGGTCTCACCACGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCCACCATGGCTGGCCAAGAGGTAACATTTTAATACATTATAAGCTATGAATATTTGGCAGGAAGAATCACACCGTAACAGTCAGAATGGAAGTGAAGCTGGCTGACCTTTAATGAAATGGTGGGGTTGAGTGTTGCATCACAGTATGGCCTTGCCTAGCTAACACTCAGGGATCAAGTAGGACAGACATTACCCTGCAGGCTGGGAGAAAAGGACAGGTGAGAACAATGAAGACTAGGGGAGAAAAATCAGCCTTCAGGACAGGCTACTCATTTCTTCCCAAGTAAGTTCCTTCTAAAAGGCAAAACCTAGCCCCTCAAAATGACAAAAGAATAAGATACAAACCCATTACCTAGAGAGACCTAATGATCTAGGTGCCCGGCCTCAAGGCTGGCTGTCTACACAGTCTGACTTTCCAGAGGAGTAATCTTTCCATACGCATTCTCTCCTCACAACAGGCCAAACTCATGAACCCTCTTTAGTTTCGGGAATTTGAGTAAATTCAAAAATGAACTCAAATAACATAGTATTGGAGACAAAACGTATTATTCTTCTTCTAAGATACATGCCACCTAAACAGTCTCTCAAAGGTATATAAATACTCTAAAAACAGAAACAGAAGGCGGAGGAGAAAATGAAATGTAATTTAATCAGTCTGAGTAGAATAAACCAAGGTCTCAAAAGAACTTTACAACTGGTAGTAGGAGAGCCTGGGCGAGAATGCAGGGCTTCCCTCTGCAAGGAGAATGCTACTCTCTGTGCAGAAAAGCTCAGTCAACCTCCCTCTTCTCACCCTCCCAATGCTGAGAGGCAACTGAAGCACGCTTGTCACCCCAGCAGCCAACTATGCAAAGCTTCTCTGTTACACGGGCACCACTCACACTTCAAGACCAGATCCTGAAACTTGTATTTTCTTCTAGAATTGTTACACCTCGTTTTGTTTTTAGTAATTTATGCTTAATATATAAAATACAAAATAAAAAACTTGTTTTTTAACAAATGGATGCTCAGTTGCCTCAGTACCATTTAGGAAACAATTTTCCTCTACTTCATTTTTGTAATTATCCTTTAAGGAACTAACTTTGCCAAACTGAAGATACTTACACACAGGTGCATACATGTTTCTGGACTCTTGTTTTGTTCCATTAAGCTCTTTATTAATTCTTGCATTAACACCACAATGCTCTCCTTACTACAATCGTATAGTTTGTTTTTGTATGTGAGAGGGCAAATGTTCTTTCGTTATTCTTCTTCAGATGTTTTAATGTTTGTCTGGCTGTTATTCATAAAGTTCCCTGAAAACTACACCAAGATTTACTAGACTTTCACAAAACACACGAATTTAAGGAAAACTGTTATCTTTACATGTAAATCTTTCCCATTAACTAATCCAACTTTCAATTTTCCATCTCTTTAATAAAAATGGTAGAGTGGATGACCCAAGATTCTGTGACATCTGTAATTTTCAGATCGTAGAAACCGAATTACTTGAAAGAAACTCGAAACCTCATGGCCAGGGGAGTGTGATGATGGGTTTGACTGGCACTGCTTTCAGGTGATAAAACAGTGATGTTTGTTAAGACCAGTGGGAATCTAACTGACGATCTGATTTGCAAGAACCTTACA
Task1_train_5744
Here is a variant affecting NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Mitochondrial complex 1 deficiency, nuclear type 22
TCCTCAGAGCAGCCACCACTCACTTGGGGCAAGACATTCCTGTTTCCACATCGAGTCTTCATCCCTCTACTAAAACACAGGCTTCCCTCCCTGTGGCGCCCTTAGCTCCCAGAATGGGTCTGGCACACAGCAGACATGCACTAAATATTTAATGAATACGTTAACCCAGTTCCAATTTGCCCCAAGAATACTGAGATGGGAGCAAGCTGCACTTTTTTTTTCTAAATGGGAAATAGGTTACTATAGCACCAAAAAAAGCAAGGCTTTATTTAACAAGTAAAATGTTTCTTTTTCATTTTAAGAAATGAGTAGTCAGAAGACAGGGTTGAAGAATGCTTTAAAAAGAACGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACGTGGAGTAAGCCTGGATGTCAGTGTGAAGTCCACGCTACGACATCAGCTCCTGGATTGGCTCCTGGTAAAGAACCTCAAACCAGAAACAGCAGACCACATTGTTTTCTTAGGAGTAACACTAACCAAGATCAGGGTTTACGTTCATATAAGAAAAAAAGAAGCACTAATAAAATGTTTTCAACTTTTTCAAAGCAAGACAATAACTCCACCACCGTACAACTGTGTAGATACGTGTCATGGACACACACTGCATCCGTGGAGACCTGAAGGAGCATAGGCAGCGGCTCCTAGCTCAGCTCTGAGAAGAAGCCTGTGAGCCGGCCACTCCCAGTGAAAACCACATTCTTGTTCTCACGGCTCAGACCCCATGAAGCCAACCCTAGTGGCGGCTGAGCTTGTGCGTGAGAAGCTCATCAGGGGCACTGCCAATCAACGAAAGCAGCAAGCACTGCAATATAAAACAGACACGAAGGCCCTAAGAGTCCACCCATCTCCCTCTCTCCGCACACAGATGTGCCATTTGCTGCTACCTGTGAACTGAGGACCGCCGTGGCATGGTAGCTTTGACCAAAAATTGGCAGTGCATCTGCGGTCCAACTCTCAGGATGTCTAGCATGCACTGCTGTTTCCCAGAATGATTACAGTAACCCGTCGCTGGACCCTAACCTCATTCTGCACACAAGTAGTCCATGTTCATGCCCTTTCATCCACCTTCCCTTCCTCTCCTAACTATACTTTCTGATCCCTGTTTCCGTCTCCCAGGCTCCCCAGTACACAGCTCTTCCTTTCTGCTTTGGATACCTTCAAGGGAAGCATCCTCCCCTACTGCACTGGCCTATGGGACCCTGTGTGTTCTGCCTCCCCCCGTCATCTTATCAAGATTCACGTCTGCCTCGTGGCTTTATGGTGATTCCGGCCTATCTCTGGGCCCTCCGGGACAACCCTATGTTGTTGGCATCCACATCTCTGTCTGCATGGCACATGCACAGTCTTCATAAGTGTGATCCCGTTTCCTCCTGGACACTTCTGTGCTCTCTTTACCCCTTTGTTTTGACACATTTCATATATAAATGAATATGTAAGTATAGAAGCTTAAAGTAGTGCCTTGAGAATTCTATACAATCCATAAATCTCACTCCAGTATCCATAGTGAAACAGCATTAAATTAATTCTGAAGCAAAAATAACACAATCTCAAGAAATTCATGATCTTGTTGGAAAGACAGAACTCACCTCATCAAACACCCTTAAAGGAAAGCTCGACTCAGTGGCAATTTAACGTGGTTGAATTCTAGAATAGTGTTCAAGTACAGAACAGATCTAACTGCCCAGAAATACTGCACCTGTGGTCAGCAAGTGCTCCAAGGCATCTGAGTACTGCAGCAGGCGACTGCTGTACAACCAGGACTGCAGGCGGTAACTGTTGCCATCATTGCTTCTCGGATCATCGTAAAATTTCTCCAAACTACAGTTGCCATTATAGTCGGTGGCGAGGGGCTTCCCATCTCCTGTGGTACTGTCTGGATAATGAATCCCCGCTTCAGGAAAGTGCTTGAAGCCTGAAAAGAGAAACAGTCGGATGCAGTCTGATGCACATCACTCACTCCCCGCAGGGAGCAGTGGGGACTAGCCAAAACACACAGCCCGCCCGAATCTCACCGCCAGGGATGGAGCCAATGACCTAGAGAAAGTCACCTACATGCCTGGGTTTCATCACGTATGAAGGGAACACACAACATATACAAGCAAGCATGTGAGCGAAAGAGCTTGCACAGTGCCCTTATCCAGGTTCCTCCTGAAAGGACTGCTCCCTGTAACCACAGGAGCCCCCTCTAGCGGGCAGCTGCTGTCATGCAGGTGCTACAGAAAGGTACAATGGACACTCAGCTGCACCAGGAGTCAGGAAGGGGCTCTAACCTTGGCTTTGGGACCCAGCTATGTGGCATCTGCTCACTCAGGAGTACACCCATCTGTGAGTGAGTACCATCCTCGGCTCTATTTCAGAGGCTGTCACAAAGTTCAAACACGACAGTTTATGTGGAAGTGCCCTGCTTACACTGCCCACATAAAATTCCAATTCAAATTGACAACCAGCATGGATTTTCACAAATTTTCCAAACATAAAAGATTAAAAACAGCTTTTTCTTGTTTCGTTTTATAAAACAGCTTTTTCAATAAACAAAAATGTGAAATACCCACCTTAGGCCCAATTATTAAATATTTAATATTATTTAATATTAATATTGAAGAAAAACCAGTGAAATAAGCAACCATATATCTGAGAAAAAGGTATCATTCTGTGTAACATAAAATCATACCTAGTTTCTCTGCTATTTCTTTTGCAAGTTTGCCTTTTCCAGTACATATATTGCCATCTACAGTTATCACTCTGCTGCGTTCTGTCAGTCTTTTGCTTGCTTTATCCCCAAGTAGGAAATGCCACATTCCATAGCGCAGTTTGCACTGCACACTGCTATGAATTCCTCTCTGAAAAACACAAAATCACACAGCAGCACATTGTGACCACTCTGGTTCCTGTAGGCATTAGTAACTATTAGGTAAAAATACCAAGAAACCTCTTAGTGATAAAAATGCCAACATCTACATCTTTATTGCCTATTAATTTGTTTAATTATCTGTCTATCCCCCACCACTCTGTCCATGTAAGTTTCGTTAAAGGCAGATATACTGTCTGTTTGTTCACTGCTAAATCCTCAGGCCCTGGAACAATGCCTGAAATTTTTATTAAATATGTTTACTATGTTCAATAAAAATTGGAGGGAGGGAGGGAGGGGTGGATGGATGGATGGATGGACGGACAGACGGGAGGAAGAAAGACAGGGATGGAGGGAAGCTCAGGAGTGAAGGGAAGGGAATAAAAAACATTTCTCTAATCCAAGCTTCTGTCCCCATGTCCTGACCTCGTTACCCCACTGCCTATTAAACAGCTCCACCTAGATGTCCTGAAGGCACCTGAAGGTAACAGAGCTAAGGTGAAATGCAACATCCATATCCTAGCCCCCAAGTCTGCTTTCCCTCACAGCAAGGAATATCCACTACCTAACAAGCAAAAGAGAGCAAATTTGAGTGTCGTCTTTGATACCTTTCTCCTTCCTTCAACTGCAGAATTACACACAAAATCCTAACTGTTCAGACTCTCTGGACACTGCATCGCCTCCCTATGCCATGTGCTGACTCTGTCGGCACCCTCACACCTCTCATCTACAAGGCAAAGACCTGCTTCAATGCCTGTCTCCAGCAGCCCAATTTACTCTCCACACTAAAGTGGGAACATTCCTTCCAAAAAAAGAAAAGAAACATAACCAAAAGTAAAACAAACTGAAGAAGTTCAACAGATATGATGGGGTAATAACCTTACTATATACAGAAATTGTACAGAACAATAAGAAAACAAAGAATAAAAAC
TCCTCAGAGCAGCCACCACTCACTTGGGGCAAGACATTCCTGTTTCCACATCGAGTCTTCATCCCTCTACTAAAACACAGGCTTCCCTCCCTGTGGCGCCCTTAGCTCCCAGAATGGGTCTGGCACACAGCAGACATGCACTAAATATTTAATGAATACGTTAACCCAGTTCCAATTTGCCCCAAGAATACTGAGATGGGAGCAAGCTGCACTTTTTTTTTCTAAATGGGAAATAGGTTACTATAGCACCAAAAAAAGCAAGGCTTTATTTAACAAGTAAAATGTTTCTTTTTCATTTTAAGAAATGAGTAGTCAGAAGACAGGGTTGAAGAATGCTTTAAAAAGAACGTGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACGTGGAGTAAGCCTGGATGTCAGTGTGAAGTCCACGCTACGACATCAGCTCCTGGATTGGCTCCTGGTAAAGAACCTCAAACCAGAAACAGCAGACCACATTGTTTTCTTAGGAGTAACACTAACCAAGATCAGGGTTTACGTTCATATAAGAAAAAAAGAAGCACTAATAAAATGTTTTCAACTTTTTCAAAGCAAGACAATAACTCCACCACCGTACAACTGTGTAGATACGTGTCATGGACACACACTGCATCCGTGGAGACCTGAAGGAGCATAGGCAGCGGCTCCTAGCTCAGCTCTGAGAAGAAGCCTGTGAGCCGGCCACTCCCAGTGAAAACCACATTCTTGTTCTCACGGCTCAGACCCCATGAAGCCAACCCTAGTGGCGGCTGAGCTTGTGCGTGAGAAGCTCATCAGGGGCACTGCCAATCAACGAAAGCAGCAAGCACTGCAATATAAAACAGACACGAAGGCCCTAAGAGTCCACCCATCTCCCTCTCTCCGCACACAGATGTGCCATTTGCTGCTACCTGTGAACTGAGGACCGCCGTGGCATGGTAGCTTTGACCAAAAATTGGCAGTGCATCTGCGGTCCAACTCTCAGGATGTCTAGCATGCACTGCTGTTTCCCAGAATGATTACAGTAACCCGTCGCTGGACCCTAACCTCATTCTGCACACAAGTAGTCCATGTTCATGCCCTTTCATCCACCTTCCCTTCCTCTCCTAACTATACTTTCTGATCCCTGTTTCCGTCTCCCAGGCTCCCCAGTACACAGCTCTTCCTTTCTGCTTTGGATACCTTCAAGGGAAGCATCCTCCCCTACTGCACTGGCCTATGGGACCCTGTGTGTTCTGCCTCCCCCCGTCATCTTATCAAGATTCACGTCTGCCTCGTGGCTTTATGGTGATTCCGGCCTATCTCTGGGCCCTCCGGGACAACCCTATGTTGTTGGCATCCACATCTCTGTCTGCATGGCACATGCACAGTCTTCATAAGTGTGATCCCGTTTCCTCCTGGACACTTCTGTGCTCTCTTTACCCCTTTGTTTTGACACATTTCATATATAAATGAATATGTAAGTATAGAAGCTTAAAGTAGTGCCTTGAGAATTCTATACAATCCATAAATCTCACTCCAGTATCCATAGTGAAACAGCATTAAATTAATTCTGAAGCAAAAATAACACAATCTCAAGAAATTCATGATCTTGTTGGAAAGACAGAACTCACCTCATCAAACACCCTTAAAGGAAAGCTCGACTCAGTGGCAATTTAACGTGGTTGAATTCTAGAATAGTGTTCAAGTACAGAACAGATCTAACTGCCCAGAAATACTGCACCTGTGGTCAGCAAGTGCTCCAAGGCATCTGAGTACCGCAGCAGGCGACTGCTGTACAACCAGGACTGCAGGCGGTAACTGTTGCCATCATTGCTTCTCGGATCATCGTAAAATTTCTCCAAACTACAGTTGCCATTATAGTCGGTGGCGAGGGGCTTCCCATCTCCTGTGGTACTGTCTGGATAATGAATCCCCGCTTCAGGAAAGTGCTTGAAGCCTGAAAAGAGAAACAGTCGGATGCAGTCTGATGCACATCACTCACTCCCCGCAGGGAGCAGTGGGGACTAGCCAAAACACACAGCCCGCCCGAATCTCACCGCCAGGGATGGAGCCAATGACCTAGAGAAAGTCACCTACATGCCTGGGTTTCATCACGTATGAAGGGAACACACAACATATACAAGCAAGCATGTGAGCGAAAGAGCTTGCACAGTGCCCTTATCCAGGTTCCTCCTGAAAGGACTGCTCCCTGTAACCACAGGAGCCCCCTCTAGCGGGCAGCTGCTGTCATGCAGGTGCTACAGAAAGGTACAATGGACACTCAGCTGCACCAGGAGTCAGGAAGGGGCTCTAACCTTGGCTTTGGGACCCAGCTATGTGGCATCTGCTCACTCAGGAGTACACCCATCTGTGAGTGAGTACCATCCTCGGCTCTATTTCAGAGGCTGTCACAAAGTTCAAACACGACAGTTTATGTGGAAGTGCCCTGCTTACACTGCCCACATAAAATTCCAATTCAAATTGACAACCAGCATGGATTTTCACAAATTTTCCAAACATAAAAGATTAAAAACAGCTTTTTCTTGTTTCGTTTTATAAAACAGCTTTTTCAATAAACAAAAATGTGAAATACCCACCTTAGGCCCAATTATTAAATATTTAATATTATTTAATATTAATATTGAAGAAAAACCAGTGAAATAAGCAACCATATATCTGAGAAAAAGGTATCATTCTGTGTAACATAAAATCATACCTAGTTTCTCTGCTATTTCTTTTGCAAGTTTGCCTTTTCCAGTACATATATTGCCATCTACAGTTATCACTCTGCTGCGTTCTGTCAGTCTTTTGCTTGCTTTATCCCCAAGTAGGAAATGCCACATTCCATAGCGCAGTTTGCACTGCACACTGCTATGAATTCCTCTCTGAAAAACACAAAATCACACAGCAGCACATTGTGACCACTCTGGTTCCTGTAGGCATTAGTAACTATTAGGTAAAAATACCAAGAAACCTCTTAGTGATAAAAATGCCAACATCTACATCTTTATTGCCTATTAATTTGTTTAATTATCTGTCTATCCCCCACCACTCTGTCCATGTAAGTTTCGTTAAAGGCAGATATACTGTCTGTTTGTTCACTGCTAAATCCTCAGGCCCTGGAACAATGCCTGAAATTTTTATTAAATATGTTTACTATGTTCAATAAAAATTGGAGGGAGGGAGGGAGGGGTGGATGGATGGATGGATGGACGGACAGACGGGAGGAAGAAAGACAGGGATGGAGGGAAGCTCAGGAGTGAAGGGAAGGGAATAAAAAACATTTCTCTAATCCAAGCTTCTGTCCCCATGTCCTGACCTCGTTACCCCACTGCCTATTAAACAGCTCCACCTAGATGTCCTGAAGGCACCTGAAGGTAACAGAGCTAAGGTGAAATGCAACATCCATATCCTAGCCCCCAAGTCTGCTTTCCCTCACAGCAAGGAATATCCACTACCTAACAAGCAAAAGAGAGCAAATTTGAGTGTCGTCTTTGATACCTTTCTCCTTCCTTCAACTGCAGAATTACACACAAAATCCTAACTGTTCAGACTCTCTGGACACTGCATCGCCTCCCTATGCCATGTGCTGACTCTGTCGGCACCCTCACACCTCTCATCTACAAGGCAAAGACCTGCTTCAATGCCTGTCTCCAGCAGCCCAATTTACTCTCCACACTAAAGTGGGAACATTCCTTCCAAAAAAAGAAAAGAAACATAACCAAAAGTAAAACAAACTGAAGAAGTTCAACAGATATGATGGGGTAATAACCTTACTATATACAGAAATTGTACAGAACAATAAGAAAACAAAGAATAAAAAC
Task1_train_5745
A variant has been detected on Chromosome 2 in KIF1A (kinesin family member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Hereditary spastic paraplegia 30
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCACACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
Task1_train_5746
This sequence change occurs on Chromosome 2, altering KIF1A (kinesin family member 1A). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Hereditary spastic paraplegia 30
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCACACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
Task1_train_5747
Here is a genetic alteration in KIF1A (kinesin family member 1A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Neuropathy, hereditary sensory, type 2C
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCACACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
Task1_train_5748
Located on Chromosome 2, this mutation impacts KIF1A (kinesin family member 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Intellectual disability, autosomal dominant 9
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
AGACAGACAGAGGGAGGGAGAGAAAAAAGATGAAGATGGGAAAAAGTAAGAGATGGGGCCCAGAGAAGGCAAGAAACAGAAACCATCAACGAGGCACAGCAGCCCTGCCAGGCCCAGGACAAGCGCATGCAAGGCCTTCCTGCCACCCCTTGCCTACGATGGGACGGGGCCAGCAGTGGCGCGCACTTGCCCGCCTGCCCCCCAGGCCTGCCCTCCCCAGCAGCAGCATGGCACAGACCTAGGCACTCTGGAGCTCCCCTGCACCCCCTGCGCCAGGCTTCTTGCTTTCCCACAGCTGCACTCCAGGCCCCACTGCCAGGCCACCCTACAGCCCCCACACCTGAGGGCTGGGAGCCAGTCCTCCCTGCATCTTCCCACCCTGTCCACTGGCTTGGCGTGGTCACCCAGCAGCGCCCCGTGCAGACCCCCACGCTTGTCCTCCCACCCCTCACATCCACCGTCAGCCTGGGACACCACACACCCCCGAGCTGTGGGGCCAGGCTGTGCTAACCTTCAGCCCACTGACATGGAAATTGGCCCAGAGACCATCCTGGAGGAGGTGAACATGGGACCCTCATGAGGGAGGCCCTTCCCCTCCACCACGAGGAGCTCACCCACCAGCCTAGGCCTCATGCATCCCTAAGGCCCGGGAGGTGGGGCTGTGACATCTCTGAAGTGGGTGGTGCCAGGGGTCTCCTAGCGGAAGCGAACACACAGCAGAGCAGCAGCAAGCACGGGACCACACGGGGTGTGGGGGAAGTGGAGGGCGCCCTGCAGCCAAGCTCGGGGAGGCACTGAGCCCCATGGAGCCAGACCCGAGGCCAGGAGGCACAAAGGTTGGGTGGGATTTGGCAGTATCCGCTGTGAAAGCTGAGCTTCTGGCATTTCCAGAGTTGAGGGCCTGGGCGTGGGGGGTCAGGTCAGCTGGAGAAATGGCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCACACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTT
Task1_train_5749
This genomic variant is located on Chromosome 2, within the KIF1A (kinesin family member 1A) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; Intellectual disability, autosomal dominant 9
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCATGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
Task1_train_5750
A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Hereditary spastic paraplegia 30
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCATGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
Task1_train_5751
The following genetic variant occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; Neuropathy, hereditary sensory, type 2C
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCATGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
Task1_train_5752
Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Intellectual disability, autosomal dominant 9
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
GCATTGCAGATGGAGGCCTGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCATGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCA
Task1_train_5753
This is a variant in KIF1A (kinesin family member 1A), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Hereditary spastic paraplegia 30
TGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTC
TGAGCCAAGAGCTGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGCAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTC
Task1_train_5754
Consider a variant on Chromosome 2 in gene KIF1A (kinesin family member 1A). Determine its clinical classification and disease relevance.
Pathogenic; Hereditary spastic paraplegia 30
TGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGA
TGGGGACAGGACAGTCCCTCCAGCCCTCCTGGCCCTTTGGTGCTGATATCCTGACCTTCGCAGGCCTTTGGGTGCACAGGGGGTCAGAGGACCTGATCTCGGCCATGTTTAGCCTGAGAAGGCCTCAGCGACACCCTGACTCCCCCGTTGCTTTGGTTTCTCATGTAGACCATATGGGTGGGAAGGAGCCAGGAGTGTGGGCTCAGAGGCAGACAGAATCCCACATCTACGAGCAGGGCCCTGTGGCTGAGGGAGAGCAGTGCTTTCTGCCCCCCAAAAAGGAGAAGAAAGCAGAGCAGGTACCCTGGGGTTCACCCCTCCCTGACCATGCCACCCTAGGCCCTCATGCTGGCTGGGGCTGGAAGCAGAGATGCAGAGAGCAGCAAAGGGAATACACACATTTGGGTCCTCCAGGCACAGTGTTGGCTATGGGGGAGGGAAGCGTGGGGGAGGGGGAGAGACAGAGAAACAGAAGAACAGGTTTGTCTCCAGAGGGTCAGGCACGCCTTTCACAGGCCAGGGTGGCCAGCAGTGGGTGTGTGGCCACAAGCAGGGTGGTGAAGGTCTTCAGCTCCAGAACGCGGGGGACCTCGGTGACCCCAGCACCCACAGCCTGCCTATGGGGCTTCCAGGGGAGCCGTCTCTGGCCCACTTGCATCAGCATTGAACCCAAACCATGTGGTACCATCCAGGCCAAGGCCAGGAAACTTGCCCTTGTCCAGGGCCCCCGCCCGGCCTCCCACCCAGAGGCATTTCTGCCCAGGAACGTGGAGCAGGGACAGGGATTTGGCCCAGAGGGGCTCTGGGAGCGGTGTGGAGCTGCCACAGCCCAGGGTGCAGCCAGCAAAGTGGTGGCCCCAGGAGAGAGGATGTGATGACCTGCGAGGCCCCTGAGCCTGAGGCCCCACAACCCTGTCCAGGACAGGCTGGAGCAGGCACTCACTGTCAGTGATGTCGCCAAGACCCTGGGCGTACAGAAGGTCCCGCAGCCGGGTCACCTCATCCTTCAGCTCGCGGATCAGCTTGTTGTTGGGGTCCTCATTGATGACAGCATTGCAGCGGATCTGCTTGGCCCGGTCAGCATACCTGGGTGGCAGAGGGGGCTGTGGGCTGTGCTCGGGACAGGTCCACATCTGGCAGGTCCCAAGGGTGCCTAGAGCCCTGCCCAAGACCCAGCCTTTTGGGCTCAGCAGCCAGGCCAAAGGTGGACCTGAGCCAGCACAGCCTGGCACAGAGTGAGAAATCGCCCCCATGGCAAGTCGCTGGGGAGGGCATTTGGGGCCACAGGCCAGAGAAGACTTACAAGGGAGGTCACCCAGTTCCCGCTCGCCCACTTGGGGAAACTGAGGCCCAGGTGAGAAGGGACAGGGTGGTGTCCTCTCCCCCAGTGGTCCCAGGGTAGAGGGAGAAAGTCCAGTGGGAAAATGTGAGCACATCTATGTGTGCATAGGCTTGTGCTCACACCGTGTACCAGCCGATGCACATGTCTACGTTTCCAGCTAGTACATGAACCTCTATTGGGCCACACGCCCTTTGTTTCTCTTAAGCACTGGTGGTGCACAGTCGAAAGAAGGGAGAGACCACTGACCCAAACAACCGAGCAGCCTCTAGCATGGCTAGGGGCCCAGGCTCCCCACCCCAGGTGCCCACCCTGCCCATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTACAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGA
Task1_train_5755
Given a variant located on Chromosome 2 and affecting KIF1A (kinesin family member 1A), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Neuropathy, hereditary sensory, type 2C
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGGCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
Task1_train_5756
Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Intellectual disability, autosomal dominant 9
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGGCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
Task1_train_5757
This is a variant in KIF1A (kinesin family member 1A), located on Chromosome 2. Is this mutation a likely cause of disease or not?
Pathogenic; Hereditary spastic paraplegia 30
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGTCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
CATAAGACACACCTATGTCCCCTCTGCTATCTAAAAATCCCCAGTGGTTACCCCGGCCGGCAGGTGAGTGTAAACTGCTTCGCCCAGCAGGCACAGCTCTCCCAGTCTGGTGCCACGGGGCCCTGGGCTGCCTGCAGCCCCAAAGCACACCCCCAAAGGCTCCATGGAGGGAATAGAACAGGGCCTATGCAGGCCCAGGAGCCTCAGAACAGTCTCTTCCAGCCTCACAGAGTCCAGGGTATACCCCTCACAAAGAGTCGCCCCTGGTCACTGGTGCTTCCTAATTCAAGCACGAGAGGATCCATCCCCCAAGACCAGGGAGCGGGAAGCAGAGCTTGTCTCCCTGGAGAACTCACCTCAGCGTGCTAAGGGTCTCATCGTAGTTGATGTCTGCAGGACTCAAGGCTGCCACCATAGCTGTCCTTGAGTTACCGCCTGTGGGAAGAAGACCAGGTTGTGCCCAGAGGGGGATCTAGGCCCCAGGGCTATGTCTGCTCCCCCCTTCCCCCCACATTTACAGATGGGGAGGCTGAGGCCCAGAGAGGTAAACTGAGTCACAGGCTTACCCCCCCCCCCACCCCCACCCCATGAACACAGACAACAGCAAGGACCTGGCCTTCCTTGGCTGCTCCTTCATCTCTGAACCAGGCACCGCTATTATTTCTCTTTTACTTGTGTTTTTCTCACATTTGGGGCCATTTTACAACCATCAGGCCTTCCTTTCCCCAAAGCAGAGAGGAAAGTTGTGGAGGGTTTTAAAGTATTTACTCCAAAATAAATACCATTTATGTTCAATATTTTTTTCAAGCACTTCTATCATTTTCATTTGAAATATATTCCTCAGTATTTAACATCAGATTCCTGGCCCAGGTTAGTAGGATCAAAGCATCAGGTAATGCGTGGCATGAGGAACAGACTGTGTTCTTTCTCTTGAGGGAATCCTGTCTAGGTAACCTCAGCCATCGGAAAAGATCACCACTGACTCCACGCCAGCCCTCAGGACTGCTGCCTGGCGGTGCTTCAAGTCTGGACAGATGATCTTGCCTGCTTGACCCCAGGGAACTGTGTATCCTCAGGGCCATGTCCCCAGGGCATGGGTCCCCAGTGGGTCCCCATAGGGACTGAAGAGACGGTGTGAAGGGCTGGGCACATACCACACGGGCCCCAGGAAAGCCTCTGTGGGAGGACTCCCCTGCCCCCGCCCTGGGACTGAACCTGGGTGTGCCTGGAGCAGGCGGCTCCTTCCCAGCCCACGTCTCAGGTGAAGGAACACACTCTCCTCCTCTCTCAGCGGGGCCCATCCATCCGCAGGCCTGCTGCGGTCTGCAATACTGACCTGAGCTGGGGAGCAAGCATGGCTAGTTGTGGGGTGCAGAGGTGGTCAGCCAGGGCTCTGCACACCTCAGCCATGCGGCTGAGGGAGGCCAGGGACCCCCAGTCATCTATGTTCACCAGGTCAGCCCAAGACTCAGTTTACCTCCCTGGGCATCAGCCTCTCCAGCTGTAAATGCAGTTGGGGAGGACTCTGAGGTTATTCCGGGATGGACGGGATCAGCGTCGGGTGCATTTCAATTCCCACCTCCCCGTCTAAGTCTCACTGCTCAGAACTCAGACGGAGAAGAGGAGGTTTATGGCAGCCCCTCAAAATCCAGCAAGCAGAGCTCCCAGATCGCGTCCCAGGTCCCCGTGACTGATGGGGAAACCAAGGCCCAGAGAAGGATGAGTACTTGGCCTGGGTGTCACAGCCCACCTGACCCAGGACCACTGACACAGGCAGGTGTGTGCTGTGCCACCCCCTGGGCTGTCCTGGTTCCCACACTCGCTTCGTTAACCCACTGCTGGCCGTTGCCCCAGGTCCTCCAGAAGGGCCACGAACTGACTGGACCCTCCAGGTTCACCTCCCAGCCTCAGCCCAGAAAGGGTGAGAGGCCTGCTGGCGACTGGGCACCCCCTCAGTGGGGAAGAAGGGCACAGCCCAGGGTGGGATCAGAGCCCTGGGGACAGGCAAACCCACAAGTTCTCACCCAGGTTTTCCCGGAGGAGCCAGGGCAACACGGAATCTCGGTACGGAATGAAATCTGTCTTCTTCTTTTTCTTGTTCTGTGGGGGAGGAACATTCAAGGTCAAGCCCGAGCCCACTGCAGAGGAAGCGAAAGGGAGGGGCCAGCGCAGGCCCTGCCAAGTGGGTCCTCAAAGCTGGAGGCTGGGCAAGGGGCGGGGCCCGCTCTGCTGGACACATTCTCAGGCTGCCCAGGCCTCTCCCTGCCCAGACCCCAGGCCGCCACCCCAGAGGCCTCCTCTAGGCCACAGTCAGGGACTTGCTAGCATGTCCTTCAGGTTCCTCCCTCTTCCATCCCTGCTGCCCCTGGGCCACCCAGCTGGACACCGGCCAGGAGTGCTGATGTCACCAGCAAGTGTGTCCTCCCTCCACTCTGTCTGAAGGACTCATCTGAGTCCATGGCCCCTCCTCGAACACCATCAGCGACTCCTGACCCAAGGGAAAAGGCCCCACAGCTAAATGTGGCCCTCCAGGCCCCTATGGCCTCTGCCACGCTTACCTCCCTGCCAGCTTAAATCTCCCCTTCACCCAGAGTTCACCCGCCCTCTCCCCCATCAAACTCCCTATGGTCCTGCAGAAGCCAGCTCACAAGCTTTCCTCTAACGGCCTGTTCTCCCATCCCTCCCCTCAGAATGAAGCATCCTCCATGCTCTTGCTGCCTCTTTGGCTCTTTAAAATATGGACTCCATCCACATAATGCCTGCCAGGAATTGCTTCTGACAGACACTCTGTGACTGACTTAATGATCCCACTAACTGTGGGTTTCAGTGACTTCCAATGTCTACTGGTTCATGTATGCATTGGCTTATGAAGCATTTCCAGAGCACCTGCTGGGCCGGCAGATGAGGCCTCTGACCCTGGAGCCTGCACCCCAGGACATGCACGCAGATGCCACCTCAAGGGCTGGGAGCACACACAGACATCATTGTTCTTGAAGACAACCCCAGGAGAAGCTCCACCAGCTCACAAGGCACATAAAATTTGAAAGCTCTTGAGACTCCCAGTCAAAGGGGGTCCAGAATACTGCACTGGCTTCTCTGCGAGCAGGGTTTCAGGGTGTCCATCTCGCAGCTCAGCAGCATAACTGACTGCTTTCTTTTTTCTTTGGAAACTTAGTAGGGACTAACTCTACTCTATTTCTAGTTTTTCTTTTGTTTTGTTTTTGTTTTTGTTTTTTGAGACAGAGTCTCCCTCTGTCACCAGGCTGGAGTGCAGTGGCACGATCGCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCATGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGCGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAAAGTAGAGACAGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCACCTCGGGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTAGTTTGGTTTTTGATTATTTAATTCCTGAGGGTGAATTCTCTGCTATGTGTCACATTCCTTGCTTCCACATAAATGTCCTCCAGCCATTCAGCCACTTCAGCAAGGAGCCCAGCAGCCCCCTGGGTTTCCTGCTCCCTCACCGCCTCCCTGTCCAGTCGTGCTCTGCCATCTCCCAGGACCACCCCGCTCTCCCGTCTAGGCCCCCCAGCCTCCACCATCCCAAGCCTGGAACGCTGACCTTCCATCCTGACTTGCCGCACCAGGCCACCTGCTCCCGACCTATCCGTCACCAGCGCACATGGCCTGAGGACGCACCCTTGGCTAAAGCAGACACTGTGAGCCCCGCTGAACACCCGCCCGCTGCTGCCACTAAAGCTCCCCCAGGCAGCTCCTGACAAGCCGGGAGGGACCTCGGATCCTCAGACGGGCCCGGCTCCTGCCGGCCTCGCCTCCCTGCTCTGGGCCTGGCTCCTCAACCAGTTCCTCGAAAACCCTCTCGCGCGGCTCCTTCAAAAGTCTCTGTCACTGTCCCTCGCAGGGTCCCTCGCACTTTCCCTCCCAGTCCCTCACACAGA
Task1_train_5758
Here’s a variant in KIF1A (kinesin family member 1A) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Hereditary spastic paraplegia 30
TACACACACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAA
TACACACACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGAGCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAA
Task1_train_5759
Here is a genetic alteration in KIF1A (kinesin family member 1A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACG
CACACACACACAGCTCACACACACACACACACACACACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCGCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACG
Task1_train_5760
Gene KIF1A (kinesin family member 1A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Neuropathy, hereditary sensory, type 2C
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTGCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
Task1_train_5761
Consider this mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Hereditary spastic paraplegia 30
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTGCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
Task1_train_5762
This sequence change occurs on Chromosome 2, altering KIF1A (kinesin family member 1A). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Intellectual disability, autosomal dominant 9
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
ACACAGCTCCACACACACACACAGCTCTACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCCCACACACACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTACACACACACACAGCTCCACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACAGCTCCCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACACACACACACAGCTCCACACACACACACACACACACACAGCTCCACACACAGCTCCACACACACACACACAGCTCCTCACAGTCCCGCACAATCTGGACAGCGGATCGTTCTCCGCTTCCTCCCCACGCCGCCCACGCCATTCCCCAGCGTTCTCTGACAGTTCCACGCGGTTATCACCGCTCCTCACAGTTCACTCCGCTCCACACACAATTCCCCACGCAGGTCCTCCGTCTCCCGCAGTCCCACGCAGTGTCCTGTGCCGTTTCCCACACGCTTCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTGCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGAT
Task1_train_5763
A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Spastic paraplegia 30b, autosomal recessive
TCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAG
TCCTCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAACCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAG
Task1_train_5764
This alteration occurs within gene KIF1A (kinesin family member 1A) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
Pathogenic; not provided
TCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGC
TCTCCCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCGGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGC
Task1_train_5765
Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Hereditary spastic paraplegia 30
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTTGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
Task1_train_5766
A variant on Chromosome 2 in gene KIF1A (kinesin family member 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Neuropathy, hereditary sensory, type 2C
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTTGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
Task1_train_5767
A variant has been detected on Chromosome 2 in KIF1A (kinesin family member 1A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Intellectual disability, autosomal dominant 9
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTTGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
Task1_train_5768
This mutation is located in gene KIF1A (kinesin family member 1A) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; Intellectual disability, autosomal dominant 9
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTTGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
Task1_train_5769
Here is a mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; Hereditary spastic paraplegia 30
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
CCGTTCCCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTTGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATC
Task1_train_5770
A variant was discovered in gene KIF1A (kinesin family member 1A), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Neuropathy, hereditary sensory, type 2C
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCTAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
Task1_train_5771
Consider this mutation in KIF1A (kinesin family member 1A) on Chromosome 2. Is this a benign change or a disease-causing variant?
Pathogenic; Intellectual disability, autosomal dominant 9
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCTAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
Task1_train_5772
Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Hereditary spastic paraplegia 30
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
CCACACAGTTCCCCACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCTAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCA
Task1_train_5773
A sequence alteration has been identified in KIF1A (kinesin family member 1A) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; Hereditary spastic paraplegia 30
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCCGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
Task1_train_5774
A variant found in Chromosome 2 affects KIF1A (kinesin family member 1A). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; Neuropathy, hereditary sensory, type 2C
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCCGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
Task1_train_5775
Located on Chromosome 2, this mutation impacts KIF1A (kinesin family member 1A). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Intellectual disability, autosomal dominant 9
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
ACACAGTTCCCCACAGGGGCCCTCAGCTTCCTCGCCTGGCTCCCACTCGGGTTCGCCACACCGTTCTCCACAGTTCCCCACTCAGTCCACACGCCTTCTCCCAGTTCTTCCTGCAGCCCCACGTGTTCTTAGTCTCTTGGAACTCCTCACACGGGCCGCACAGCTCTTCACAATTCACACAGTTCTCTGTCCCCACACAGCCACCGCCGAGTTCCCTGTGCGTTTCCCAGTGAGCACCTCGCGGATCCCCGTGGTGGCGCCCGCCCTGTCTCACGCATTCCCACGCTGGCTCACTCCGTTCCTGCCGGTCCCTCGAACGCTTTCACGGCTGCCCACGCGGTTCCTCACACAGTCCCCAGCGTCGCCCCAGGCAGCTTCACACGTGGCGCGCTCCGCGGCACCTCCGACTCCACACGCGCCCGCCTCCCCCTGTGGCCCCGTCACGCCTACGGCTGCTCAGAGTCCAGCACGCCTGTCACCCGCTTCCTCTCAGGGCTCCCCAGCCCTCTCCATGTCCGAGGGGCTCCTCCGCGCCCCTTTCAGCTCCTCCCAGGGCCCCCACGCCCCCCGGGCCACACTTTCCCACCTCGGTGTCTCCCAGCAGCCCCCGCCCCAGGCCCTGCCGTGAGGCCGCCCCGGACGCCCTCCGTCCCCGCAGGCACAGGCACCGCACGGGGCCTCCCACACCCGCTTTCTTCCTTCCCGGGATCCACCCCCACGTCCCCCATCTCCCAGCGCACTCACTGCCCGCCCCGCCCCTCACCACAGGGCGCCAATGCAGGGCAGACACCGCCACCAGCCTCCCGCACCTGCCCCGGGGCTGAAGGAAGCCGCTTACCTTGTTGGGTCCGGAGTCCTGAAAAGGAAAAGACAGAGAGAGGCTGAGGCCCGGAGCGAAGCTGGCGCGGGCTGTGGGGGCGGAAGAGCAGGCGGCCCGGCTGCCTCGCCCTGGCCATGACTCAGGCTCTACCACCCCGTGGTCTCCTAGACAGCAGCTCCCCCAGGCAGGGTCCCTCCAGGGCCGCCCTTCCCGGGCCCAGGCCTGGGCTGCCTGCTGCACGGGGCCAACTGTGGCCATAGCCCCACTTTACAGGCGGGGAAACTGAGGGTCCCGGGAGAAACCAGGGCCCCTACCCCTTCTCCAGCATGTGACACTCTGGCCATCTCCGGGCTCTCCCTTGAACCTGGCCACCTCCCAGACACAGGGCCCGGAAACGAGGGTGACAGGGGCAGGATGGGGCGCCAAAGACCCTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCCGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCC
Task1_train_5776
A mutation found in KIF1A (kinesin family member 1A) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; Hereditary spastic paraplegia 30
CTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCA
CTCTGGGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGAAGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCA
Task1_train_5777
A variant was discovered on Chromosome 2, affecting KIF1A (kinesin family member 1A). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; Neuropathy, hereditary sensory and autonomic, type 2A
GGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCC
GGGTTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGCGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCC
Task1_train_5778
The gene KIF1A (kinesin family member 1A), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; not provided
TTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCC
TTCTGGCTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGCAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCC
Task1_train_5779
This mutation occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Hereditary spastic paraplegia 30
CTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTG
CTATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGATTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTG
Task1_train_5780
Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Intellectual disability, autosomal dominant 9
TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGC
TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACGGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGC
Task1_train_5781
A variant on Chromosome 2 in gene KIF1A (kinesin family member 1A) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
Pathogenic; Hereditary spastic paraplegia 30
TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGC
TATGGAAGCCGGGCCGGGCCACTCACCATTTCAGCCAGGGCGGAGATGACCTTGCCCAGGGTGGTCAGCGACTTGTTGATGTTGGCCCCCTCCTGCGGGCAGAAAAGACAGTGGGGTTGGGATGCTGGGGACCCGTGGGGCCTCCTGCTCTGGAGGGATGCCCTGGGTGGACCTGTGCAGTGTGGAGTGGAGGCCACCACTGCAGCTGCTGATCTCTGGGGCCACTTGGGCGTGGGGTGCCCTGGCAGAAAGCCAGCTGGAGCCTCTGGCCAGGAGCATGTCCCCCAGTGTTGCCCTCAGCCCCATGCAAACCCTGATATCATCCCATGTCCCCCTGAAATGCTTCCGGGTCCCCTGCCCAAGCATCTAGTGCTGAGGCCAGCAGGGGTCGAGGAAACACACTCCTTCCCGACCCCGGCACTGCTTCCCGGGTGGTGCCCCAATCTCCCCAGGGAAGACCTGGCCTCTGGGCGCAAGGTCCTTGGGGCCCGAAAGAGGACACCGTCCCGCCAAACCCCTGACCTGTGTGCCCAGCGCTGGTGCCCCGGGCATGGCCCTCGGCTGCTGGCAGCCCAAGACCCCAGCCTATGCCCACCCTCCCTATGCAGGCTCACCCTCAGGGTGGCCCAGGCCCCCGGGACCCCAACAGAGCCCTCCTGCCACCCACTCTGGAGCAGGCCAAATGTGGACACGGGTCCCCGCATGGCGGCCTGGCCCCTACCTTGAGGCGCGTGCCCTTGGCTCCCGTGGAGTCAGCCCGCTCGCTCCCAGCCAGGTCCACCAGGCTGATTTTGCTCACCTGAAACAGTAGATACATCACATGCAGGAAAGGCCACAAGATGCGCGGGGGCATCCCAGGACCCCTGGGCAAGGTCTCCACAGCTGTTGAAGGAGCCCTGGCCAAGCGTCCCCTCTGCAAGGCGCCGCCCCTCCCCAGGCCCAGCAGTCCTGACCCCGCAGTTTCCACCCGCACCTCCGTCCCAGCTCTCCCAAGGCCCTGCCCGAGTTGAGTGCCCAGCCACCTCCCCAGGGGAGCACGGGCGCTGCCACCACACGCTGGGTGGTTTTCACACAAGGGCGTACTCGCTCCCTATGGCATCCACGAGGTGCGACTGTCACTGTCCCCACTTCCATAGATGGTGCTCAGTGTCCGTGGTTGGATTAGAACCCAGCTCCAGGAGGCCCTGGCCCTGCTCAGCCACCACACGGGCCATGGCTGCACCTAGCGAGGTGGGCACCGGCCAGGCTCCCAACAGGGGCACCCGCAGTCTGGGGTGGGAGGCCCTGCACCGGGAGGCCTGGCCCCTCCTGAGCCATAGCTACAGGGCAGGACTTGCCCACGGACACCACAGGACCCTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACGGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGC
Task1_train_5782
This gene mutation involves KIF1A (kinesin family member 1A) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
Pathogenic; Hereditary spastic paraplegia 30
CTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCC
CTCTCGGTGCCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCGGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCC
Task1_train_5783
This sequence variant lies in KIF1A (kinesin family member 1A) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; not provided
CCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGG
CCCACCAGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGGGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGG
Task1_train_5784
Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; not provided
AGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGC
AGTGAGGGCAGCGGGGCAGGCAGCCGCGCCGACCTCGTCCAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCTTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGC
Task1_train_5785
Here is a variant affecting KIF1A (kinesin family member 1A) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
Pathogenic; Hereditary spastic paraplegia 30
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGACACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
Task1_train_5786
Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Neuropathy, hereditary sensory, type 2C
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGACACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
Task1_train_5787
Gene KIF1A (kinesin family member 1A), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Intellectual disability, autosomal dominant 9
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
CAGCTTCACCCTCGTCTGTCCCCCAACCCACCTCAGCCATCCTGAGCCCCCGCTCACTGTTTCATGGAGTCCCGGTCAGGAGGATGTGCCTGGCGGACCTCCAGCACCATCAGGGACTGAGCAGCCCTCACTCCACCCAGCCCCTTTGCGCTCCCCACACGGCTGCCTGAGCGAGCCCCCAACCAGGTGGTGGCTGAGGTGCCCCTGGGCCTGGACAGCTGGGGCATGAGGGCAGGGGACAGAGTAAGAGATGGTCAGGGAGAGGCTGGGTGCCCTCCTGCTGCCCCTCCCGTAAGCCTGGACTGGCTGTCCAGGCAAAAGCCCCAGAAGATGGCCCCCTGGCCTGGTCCATGGAGAATGCCAAGGCATGGGAGAAGGGCCTCTGGGGCGGGGGGGGGGACGTCCACACCTGGTGCCAGTGTAAGTGTGAGGACACTACCCGCCCTGCACAGGCCAGCATTGGGCCTGTCCTTGTGCTGCCCCCACTGGCCTGACCACCACCCCTACCCTGACCACCAGCCACTGCCCTTGGTGGCACCGCCTGTGAGGCCACTCACTCACCTTCTCCGTGGTGATATTGGTCTCTGCGTCATGGCGCTTCTGGGTGAAGATGATGTTGAAGACGGCGTGGGAGCGACTGCTGGTCTCATTCATGTTGGTGGCCGCCACGGTCCTGAGGAGCAGAAAGCCACGCACGGTTACCCCTCGTCCTGTGGCCGGGTGCGAGATCGCCGGTGGTGCCAGCCCTCTGAACCAGGTCATCGGGGGGGGCAGTTCCCCCAGACCCCAGGGGCCGCCCTGCTGGGCCTGGCACTGATGGCGCCTCCTGCCAGGACTCCAGCAGGGCCCATGGCCACCTGCCCACAGTGGCGTCCTCAGCCCCAGCCCTTGCTGGTATATTCAGGGCAGCAGTGACTGCGAAAGCTTCCCACTCCTGGGCACAGAGAAGCCCATGCAGTGCCCAGCTGGGCAGGAGCCCTCCAGGGCCATGATATGGGAGGGGAAGGGGGAAAGGGCTGTCCACTGTCCACCCTACCACGGCCCACACCCGCGGCTCTGGGAAGCCCAAGGAGCCCGCCACACCCCTCAGGAGATGGCATGGGTCTCGGCAGGGTCCTCCAGAACAGGAAGCCCAAGGCTGCTGAGGGTGGCCTGGAGTTGGTCCTGATGCCACCCTGACCTGCCAGGGACCTCAGGGAAGGTTCCCAAGACTCAGCACATGGGATGTGGCAGCCCAGGGCCCACCTCCAGCACGGAGTCACAATGACGGCCAGGGTGCGCTGTGGGCCTCATCAGGAACAGCACCCCCACCCACCAGCCCTTGTGGGGCCACCAAAGGGGTGCAGGATGGCGCAGAGTGTGACTCACGACCTCAGGAGCTGAGAGTGACAAGGGCCATCACCTCACCCTCAGGAAGTCCCGGGTGGCAGAGGGAGTCTGTTGCCATGACAACCAGGGCATCCCAGGCAGGAGGCCCAGGGCAGCAGAGGCCAAGGAGCCAGGTTGCTTATGGCTGCAGCACTGCAGCCGACCCTCCCCACATGCCCCCTGACCCCAGCACACTGGCCCCCACACAGAATGTGGACCCCTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGACACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTA
Task1_train_5788
An alteration has been detected in KIF1A (kinesin family member 1A) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Inborn genetic diseases
CTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCA
CTGGGACTAGCAGAGCAGCTGCCCCATCGAAGCAGCAGCCACAGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGACCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCA
Task1_train_5789
A genetic alteration is present in KIF1A (kinesin family member 1A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; not provided
AGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATG
AGATGCTGCCAGCACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACGTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATG
Task1_train_5790
The gene KIF1A (kinesin family member 1A) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Hereditary spastic paraplegia 30
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCATCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
Task1_train_5791
Gene KIF1A (kinesin family member 1A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Neuropathy, hereditary sensory, type 2C
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCATCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
Task1_train_5792
This mutation occurs in KIF1A (kinesin family member 1A) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Intellectual disability, autosomal dominant 9
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCATCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
Task1_train_5793
A change on Chromosome 2 affects gene KIF1A (kinesin family member 1A). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Intellectual disability, autosomal dominant 9
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCATCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
Task1_train_5794
A sequence alteration has been identified in KIF1A (kinesin family member 1A) on Chromosome 2. Is it disease-inducing or harmless?
Pathogenic; PEHO syndrome
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
CACCCCCCGGGCACCTCAGCCGGAGGACGCAGACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCATCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCC
Task1_train_5795
A mutation on Chromosome 2 affecting KIF1A (kinesin family member 1A) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Intellectual disability, autosomal dominant 9
GACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACA
GACCCCCATGAAGGAGAAGCCCCATGGAGGTGACAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTCTCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACA
Task1_train_5796
This variant affects the gene KIF1A (kinesin family member 1A) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Hereditary spastic paraplegia 30
CAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACACTGTCTGAACCCAGAATTGGTGTTGACAGAGGC
CAGTGTCCCCTGCACAGGGGGAGCCCTCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCGGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACACTGTCTGAACCCAGAATTGGTGTTGACAGAGGC
Task1_train_5797
Gene KIF1A (kinesin family member 1A) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Hereditary spastic paraplegia 30
TCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCGACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACACTGTCTGAACCCAGAATTGGTGTTGACAGAGGCCTGGAGGCCTGAGGCAGTCCCCTCCC
TCGGCCTCTCTCGGGCTGGCACAGGCCTAAACGACCTCGGGCTCAGGAGGCCACACCTCCGCGGGGGCACAGATGGACCCTACCAAAAAGGGCCAGGACCGAGGTGAAGGGGCTTCCTCCGGGGAGAGGCGGCAGGACAGGAGGGCAGGGAGGTCCAGTGAGTCCCTCCACCCACCTGGCCTTGTTCCCTGAGTCCATGAGGTCCTGGATGTCATTGTAGGAGGTGACAGCCAGCTTGGAGAGGTCCTCCACGTAGGGCCCCAGCAGTGGGTGCTCCCTCACGCGAAGGTTGCCCTTGTTCTTGGGGTTCAGGAGGTCACGGACGCGCTCACAGTAAATCTCCATGTAGCTGACCTGCAGGGCAGAGCCAGGCCATCAGGGGCCCCTGAGGCGAGGGAGTGGGGCTGCCACTGGGGGGACCCCTGAGTGAGGGGGTAGGGGTCAACATAAGGACCCCTGAGTGAGGAGATGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCTGCCTGCTGAGCAGAGGGCTCCCAGTCTGCAGCCCCTGTGTGTATGTTCGAGGCAGGGGTGTCAATGTGGCCTCCCTCACCACGGCCATCCTGGGCTCTAGGACACACACATGCCAGGGCCACCCCAGCCACGGCAGGCATGGCCAGGCCCTGAGCTCTGAGGCACCTGCCCATGCCCTGGCACAGAGCAGCTGCTGGAGAAGCACCTGCCAGGTGGGGATCACCTCATCACTCTGTGCTTTGGGGGTCTCGAGCCCTGCCCAGGCCCGCCGTCTTGCCTGCCACTTGGATGAGTGAGGGACAAGCTGGGCGTGCAGACCCGTGGTGGGCACTCACTTTGCATCAGAAAAGCACTGCCAGCCACACCAGATTCCCAGCCCTGCCCCAGCGGCCAACGGCAGGCGGGGAGCCCTACCTCCACGGAGTAGGACATGTTGTCGTTGGTCGTGTCGTTGATCCGAGAGAAGAGGTCCTCGCAGAGCTGCAGGAATGGGGGGACAGTCAGCCAGGGAGGGCTGGGGCTGCTCCCTGGATCCCTGCCCCTTGCGATACTGTGGGCAGCCTGTGCCAGGCGGGATCCACCCTCTCAGGCCCCTCTTGCACCCTCACCACACACGTCATGGTAAAGGCACTGAGAAAGTCTGTAGCCAAGGAGCCAGTGTCTCCCTCTTAACTCAGGGGTCCCTGGCTGGTGTGGGTCATCTGCCCCTCCCCCTGGCTCTGCCATCCTACAGACATCCCAGCCATCTCCCTTCCCTCAGCAGGCAAAGTACTAGTGACCAACTCACGTCCAGAGACCTGCCCAGGGGAATGGCTGGGGACTCAGGGTTCCTGCAGCAAATGAGGAGCTGCTGGGTCTGGTGTTTGGCCACCCCTGTCCTGAGCACCTCTCTCTGCCCACACTGCCAGCCCTCACACCTTCAGAGATCAGCTGCCCCAGCCAGGGCTCTCCCAGCTGCTGTGTCTTAGGCACATGATCAAGGTGGACCCTGTCCAAGGCCAGGGCCCTTCCTGCACCTGGGGCCTGGGTCTGCAGCTTCACAGCCACATCTGGCTCTCACCTGCCCCAGCCCCACTCTTGACCCAGCTGGCCTTCCCCTCCTGACTCCCTGCTCTCTGGGGGCTGCTCTCAGGGGTGCCTGGCCCGGAGCTCTCAGCCTCAGCTGGTCCCGCCCCATCTGCCAGGGCTGCCCCCGCCCGCCCCCCGCTTCGTGCCTGTGGGATGATGCCCTGCTGGTCCTTCTCCTGCTTGCCCATCATGGTGTAGGACTTGCCGGCACCCGTCTGCCCATAGGCGAAGATGCACACGTTGTATCCCTCAAAGGCATGCTGCAGCATCTCCTCGCCGATGTCCCGGTACACCTGCTTCTGCCACGCGTAGTTGATGTCCTCAGGCTGGAGGACGAGGAAGGAATGAAGTTGCAGGAGGCTGGGTGCATCCGAGGCTCAGCCCATCATGTCTGCGGAGCCAGGGGATGCCCAGGGCCTCAGGGTGCCAGGGCAGCACAGTGGGGAGGGATGCCTGCCCCCCATCCTACTCCTGCCTTGTGGGGTAGCTTCCTGGAGGAGAAGCCCTCTGTGTCACAGATGCGGGATGAAGAGCGGCCAGCCAGGCAGGAGGCAGGACGGGTTCCAGCAGAGGGAACAGCATGTGAAAGGCCCAGAGGTGAGACCTCAAAGCCAAAGTAAGTTCCATGTGACCGTGACAAGCAGGGGTGACAAGAGCTGAGACTGGGGACAGGGTGCAAAGGCCCAGAGACCCCACAGGCTGGGCTACAGCGCCTGGACACTGTCCTGAGGACAGTGGGGCACTTTAGGCAGGGGGACAGGGTGATTAGCTGGGGGTCATCCTGGAAGGAGGAAGGACTGGATGGGGAAGGCAGAAGCGGGGAGCCCTGGGGCTGTTATGGGGGGCAGGTGCTCAGAGATATAGATATGAGGGGCTTAGATGAGGAGGCTGCATGCCTTCTTCTAGAAGGGTCCAGGAGGTGGCAGGTGGAAGACAGGGCTCAGTGTGGACTGGATCGGGGAGGAGGGAAGGAGAAGAGTCCAGGGGTCTCCTGGGCTCCCAGCATGCAGGGCACAGCTTCCAGACAGGCTCAGGGTCAGCTTTGGGCATTCTGACTTTGGGATGTCTGGGGGAAAAGTCACCAGCAGATGGACGTACACACAGCTCTGACCCTGGAAACTACCCACACGGAGCTGAAGGCCCCTCAGTTCCTGCAGCCTCCATCACTGCCTTCGCTGAGGACCGCTCAGGGTGACCTTCCAGGGGAGCAGGGTGGGGTCCTCGCCCCAGTTAGAGAGGAATGAGCGGCTCAGAGAAGTTGAGGGACCCCGAGGGCCACATGGCCTATGCACTGCTGCCCCCGCCTCCCCCGACCCGGGGTCCCGGCTTACTGAGGTGTGCGACCAGTAGGAGTAGTCAAAGCTGAAGCTTTTGGGCGTCTCCTTGGGCTGTTTGGGGTTAACAATGGCTGTGGGAGGGAACACAGGTGGTTAGCGCTGTGCTGGGAGGGCCCCTGACTAGCTGGCATCTACACTCCAAGGTGGGGAGATGGTCTTAAGAGGCCTCGGGCCCCAGACAAGCCAGGCCCCCAAATTGGAGGGGACCTAGGACCCCACTCCCAGGCAGATGAGCTGTCTCTGCCCCCTCCTTATGGTGGACGCTGCCACCCATGGATGTCCAAGGGTACCACCATACCAGCCTGCAAGGCTCTGTGTCATTCTCCCGCCAAATGCAACTGGCTCCCCTCAAAGGCAGCCACCCGGGGAGGATCCTTCCCACCTGCAAGCTGCGGCCCCTCCATCTCTGGTGTCCACCTTGGGCTCACAGCCCCTGCCCTGCCCCGCCCCCTGCTCAGGCCTTTATGCTCCGGCTCAGCGTGCACGTGCCCGAGAAGCGCTGGAAGCCTGGGCGTCCATCACGTTTGTGTTACGCCTGTGCGGTTCTTCTAGGCTTGCTACTCCAGACAGAGCTCTATGGGACTGTCTTCTGCCAGAGTCCCTCCTCCCCCTCCCTCCTCCACCCAACTTCAAGCCCAGTCCCAGGCACCCTGGGCTGGCTTCAGGCAGTGCTCACAGAATATCTGTTCCTCAAACCCAGAACAAATCCATGAACACGTGATGATGCCCCCGCCCACAGCCGGTGCCTGGGGGGGTTTCCCAGGAGCTGTCCCAGTATGAGTGTCCCAGGAGCTCCTCCCACCCACACAGCCTGCAAGTATCTCAGGGACCCAGCACACCCACTGCCACCTTCCATCCTTGCCCCCAGCATTTCCCAGGCCCTGGACGGGCCTGGACCCTGCAGACTGCATGTCCTCAGTGGCCGGAAGGACAGGACCCGCTGCCCCCTGGAACACTGTCTGAACCCAGAATTGGTGTTGACAGAGGCCTGGAGGCCTGAGGCAGTCCCCTCCC
Task1_train_5798
Consider a variant on Chromosome 2 in gene KIF1A (kinesin family member 1A). Determine its clinical classification and disease relevance.
Pathogenic; Hereditary spastic paraplegia 30
GTACCCTCCCGTTTCTGGATCCTATGAGGGGAAATGCATAATGGGGAGGCCGCCTACCCAGTGCCCCTGGAGGCTGAGCCAGGGGGCAGGTCGGAGGCTGCAAGGGTGCCACTCGCCCACCCTGGCCGTCACTTCTGGGACACACATTCCAACCCGCCCACCTGCCTAACCCTGTCATTTAGGGTCTGGCCTGAGGCTGGGCCATTCTCAAGGTTCAGGGGCAGGAGGGTCCCATCTCTGAGGCTTTGTTCTTCCATCCACTCTGCTTCTGGTGGTCTTTAGCTGCTCGACGGGTCTGGTTCTTGTCACTGTGCCAACCATGGAGTTCCCCATGACCCCACATGCAAGACTGAGGTGGCAATTGTGCTGCCGGCACCCAGTGGGGGATGGAAGGGGATTCACAGGGCCCTCCCTGATGTCCTGGGTCACCTTACAATGACACAGCAAAGCCTGTTGGAGCGTGGAACAGGCGTCCTCTGCCCACCCCGGGCCACAGTGCTCACCAGAGGTCACGGTTCCCACCCGGAGTCGAAGGTCACACCCAGAGCCATGGTTCGCACCTGAGGTCACATTTCCCACCTGAGGTCACATTTCCAGACTCACAGCTCTGCGCAGCCTGAGGCTTCCCTCTTAAAGGCAAGGGTCCTGCCACCTGAGCACTTTCTCCGACCACAAAAGGCCAGGGCTGCAGTCAGCTAATGCAGCGAGCGTTGTTGGAAAAGCACTGGCCTTCCTGGGCAGGACAACCGGTAGGTGCATTGTGTTCATCCACGGGCCCCGGCAAGGCCAGGGCCCCGGCCACGGAGGTCACCCACTTACGAACGCACCTTTGTCAGCTTCCCCTCAAACTTCCCCAATCTCCCACAGTGCATCCTGGGACCACCTCCCAAATAAACTCTTGGTGCTCAAATCCTCATCTCTGGGTCTGCTTCCAGGAACCAAACAGACAAAACAATTCACCATGAAGAACAGTCAGGATGCAACCCTGAAGTACACTGGGGCCCCACAGCCGCAGCAGCCTCCATACCCTGGAGTTTAGCAGGGTCTCCCCAGCCTGTCCACTGCACCATGATTAGCCACAGAGCTCCACGGGCTTCTGGAAGGATCATCCCTGGGCCAGACAGAGGGCCCGAGCAGAGCCCTCACTTCCATAGGACGTGACAGAGCCCAGAACACCCCCAGTGACACCTGAATCTCCAGCCCCTGAGCAGGCCTCGGAGACTAAACCTAGGGAGGAAGCTTCCATGGGACCTGAGTGCCCTCCCCTCGGGACGCCCCCCTCCCCACCTGGTAGATAATAGATGAGGGCATGTCGGATGGGTGCACGGCACCTGTGAATGGGAAGGCTGTCATTGTCCACATCCTGAAGACCAGGTGGCTGTTCATGTCACCACTCAGTGCAGCTGACACCACTTGATCCTGTGACGGCAGCAGCAGTTGCAGCTGCACCAGAGGCCCCAGCACAAACTGCCCCGCTGAGCCCAGCCAGCCACAGAACTGAGAGATGACAATTGGTTCTTGCTCCAAGATACTGATACGGTTTGGATATGTGGGGAAACATATGGGTGTCCTTATAAGAAAGCCAAACCCAGTGGTGGGTGTCCTTATAAAAAAGCCACATGAAAGCAGAGACACAGACACACAGAGGAGAAGGCCACGTGACGACGGAGGCAGAGACTAGAGCAACGCTGCTGCAAGCCAAGGTGGCTGGCAACCACCAGACCCCGGAGAAGGCAGGAAAGGTCCTCCCTAGGAGCTCAGAGAGAGTGAGGCCCTGCTGGCACCTTGACTTTGGACTTCTGGCCTCCACAGCTGTAAGCGTAAATCTCTATTCTTATAAGCCCACCACCGTTGGTGGCAGTTTGTTACAGCAGCCCCAGGACACCCACACGCCACATAGACAAGGAGGTGCTCTTGCGGCCAGGGCCAGGTTGACTGCTGAGCCTGGCCCATAGGCACAGGACCATGGCCCCCAGCAACCCATGGCCGACCCCGATGCTGTGCAGGCTGATACTCACTGGTGGTGCTTCCAGACATCTGAATGATGCACTTGGAGTCACGGCTCATTTCCCGGGAATTGAAGGGGCGGACCCGCACCGCCACCTTCACCGAAGCCCCGGCCATCTCTGTGGCCTTCGTGGGTCACTCCTCGCAGTAGTGGGAGCCCCAGTGTGGGGGGAACACCTTGGAAAAAAGGGAAACATGAATTAGAAACAATATCTGAGGAGGCAGGACAGGCACTCCGGCTGCAGCTGAAGCCACAGGTCTTTTCCACTCCCCTCCAAAGCTCCCAGTGTGATACATGCATGGGGTGGAATCCACAAGGAGAGGAGGCAGCGCAGATAATTCTAGAAAGCAGGAGCCCAGCGGGACCAGTGGAACCCAGCTTCGCAAGCCTGAGGAAGCTGAAACCCAACAAAAGAAACAGAAACACAGCGACCTGGGTGTGAACGTGAAGGTGGCCTTCACACCCACGGCAAACCCCCCAGGAAGGGTCTTCCCCTGTGGATGCAGGCGCTGGTGGGCTCCATGCCAGGTCCGCGCAGGCCCCAAGAGCCAGTGCTGGCTCCAGATCGACATGTCAAGGACGCTTTAAAACAGAACAGTGTTCTAGAATGCCCCATCACACCCTTCACACCAAGCGCCAGCTGGTAGCCACATCAGCAGTAGTGTGGTCTCTGAATTAGCAAGAAAGAACTTTACTCAGAAATGAAAAGAACAGCACAGACAGCCCTAAGCAATGGGACAAAAGTCAACGTTTTCGGCCCAATGTCCTGCTGGTAATTCACGCAGAAGGTGGAGAGGAACATTCCTGAGCCCCACTGAGGAGAAGCAGGAGACAAGTCATGGGGAATTCGGTACAAGCCAGGGCTGGGGGACCAGCTTCGGCCTGGCCTTTACCCCAGCTGTGTGACAGCTTCCTGGGCCCCAGTTTACCGTCTGTGAAATGACGGGGTGGTGGTCAGGAACCCCAAAATGATTTGGCCTCTCGGGTACTGGGACTCTGAGGAAGGCTGATGAAAACTCCCCGCAAAACAGTGACGAAGCAGCCACTGTGAAAGGTCTTTCCGGGCTGACCAGCCAGATGCTGCTGCTTCCCCGTGGGACTTGCGGCCTGAACGATGGGGCTCCTGGGCACAGGGACAGGGACAGCCTCGGGACAGAGCTGTTGGTTACAGGAATGGCCAGAACTCCATGAAACAGAATTCATGCAGCCTGACACGAGAGGTTTTCGCCAATTGCTGTCTAAATGCTCTAGGGTGCCCACTCAGTGGTGAGTCCCACATCACCAGAGGCATCCAAGTAGAGCAAAGGCTGGGAGGCCTCCTTGAAACCCTTCCACACTGACATTCCATGAAGAGGCAACCTTCTGCCTGGTCGTCCCCATCTGTAAGTGCCACCCTTGGGGGAATCTGGCAAAAAGCCCCCATCCTACAGTGCCCCAGCCTCATAGCTGTGAAGAAGGGACAAGCCCCTCTGGGCTGCCCCTGGAAGCTCCAGGATCAAGAGCAGGAAGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGCAAGCCTGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGCGAGCCTGGGACAGGATCAAGAGCAGGAAGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGTGAGCCTGGGACCAGGGCAGACGCTGAACTCCTGGACCTTGCCCAGGCCACTCCCAGGCTCCCCAGAACTCCTCCGCAGAACAGGCTGGATGTGGGGCAGGGCTGTCCCTCAGGCAAACAGCTCTTCCAGAGGCTACAGGGGAGGGGGATGTGCCAGGCCACCCTATGGCTAAGTGGGGACAAGTTCCTGATGTGGCTGGACTCGTGCCGCCTACACCACAGCCCCTTAGAGCCACCAGGTGCAGCCGCGTCTACACTCCAGAGTGCTTCCGCCACTATCTCTTCTCACAGCCAGGAGTGGCTGCCAGCGTGGACGGGGGGATGACCTCTGAGAATCTGTGTTTCCTTGTGTTGAAAATCCCTGCACTTTTAAAACTGGAAAAAGTCTTAGGACGTTCCAGCCGGGATGGAGAGAGGAACAGGCAAGTTCACCAGTCCCTGGCTAGAGCAC
GTACCCTCCCGTTTCTGGATCCTATGAGGGGAAATGCATAATGGGGAGGCCGCCTACCCAGTGCCCCTGGAGGCTGAGCCAGGGGGCAGGTCGGAGGCTGCAAGGGTGCCACTCGCCCACCCTGGCCGTCACTTCTGGGACACACATTCCAACCCGCCCACCTGCCTAACCCTGTCATTTAGGGTCTGGCCTGAGGCTGGGCCATTCTCAAGGTTCAGGGGCAGGAGGGTCCCATCTCTGAGGCTTTGTTCTTCCATCCACTCTGCTTCTGGTGGTCTTTAGCTGCTCGACGGGTCTGGTTCTTGTCACTGTGCCAACCATGGAGTTCCCCATGACCCCACATGCAAGACTGAGGTGGCAATTGTGCTGCCGGCACCCAGTGGGGGATGGAAGGGGATTCACAGGGCCCTCCCTGATGTCCTGGGTCACCTTACAATGACACAGCAAAGCCTGTTGGAGCGTGGAACAGGCGTCCTCTGCCCACCCCGGGCCACAGTGCTCACCAGAGGTCACGGTTCCCACCCGGAGTCGAAGGTCACACCCAGAGCCATGGTTCGCACCTGAGGTCACATTTCCCACCTGAGGTCACATTTCCAGACTCACAGCTCTGCGCAGCCTGAGGCTTCCCTCTTAAAGGCAAGGGTCCTGCCACCTGAGCACTTTCTCCGACCACAAAAGGCCAGGGCTGCAGTCAGCTAATGCAGCGAGCGTTGTTGGAAAAGCACTGGCCTTCCTGGGCAGGACAACCGGTAGGTGCATTGTGTTCATCCACGGGCCCCGGCAAGGCCAGGGCCCCGGCCACGGAGGTCACCCACTTACGAACGCACCTTTGTCAGCTTCCCCTCAAACTTCCCCAATCTCCCACAGTGCATCCTGGGACCACCTCCCAAATAAACTCTTGGTGCTCAAATCCTCATCTCTGGGTCTGCTTCCAGGAACCAAACAGACAAAACAATTCACCATGAAGAACAGTCAGGATGCAACCCTGAAGTACACTGGGGCCCCACAGCCGCAGCAGCCTCCATACCCTGGAGTTTAGCAGGGTCTCCCCAGCCTGTCCACTGCACCATGATTAGCCACAGAGCTCCACGGGCTTCTGGAAGGATCATCCCTGGGCCAGACAGAGGGCCCGAGCAGAGCCCTCACTTCCATAGGACGTGACAGAGCCCAGAACACCCCCAGTGACACCTGAATCTCCAGCCCCTGAGCAGGCCTCGGAGACTAAACCTAGGGAGGAAGCTTCCATGGGACCTGAGTGCCCTCCCCTCGGGACGCCCCCCTCCCCACCTGGTAGATAATAGATGAGGGCATGTCGGATGGGTGCACGGCACCTGTGAATGGGAAGGCTGTCATTGTCCACATCCTGAAGACCAGGTGGCTGTTCATGTCACCACTCAGTGCAGCTGACACCACTTGATCCTGTGACGGCAGCAGCAGTTGCAGCTGCACCAGAGGCCCCAGCACAAACTGCCCCGCTGAGCCCAGCCAGCCACAGAACTGAGAGATGACAATTGGTTCTTGCTCCAAGATACTGATACGGTTTGGATATGTGGGGAAACATATGGGTGTCCTTATAAGAAAGCCAAACCCAGTGGTGGGTGTCCTTATAAAAAAGCCACATGAAAGCAGAGACACAGACACACAGAGGAGAAGGCCACGTGACGACGGAGGCAGAGACTAGAGCAACGCTGCTGCAAGCCAAGGTGGCTGGCAACCACCAGACCCCGGAGAAGGCAGGAAAGGTCCTCCCTAGGAGCTCAGAGAGAGTGAGGCCCTGCTGGCACCTTGACTTTGGACTTCTGGCCTCCACAGCTGTAAGCGTAAATCTCTATTCTTATAAGCCCACCACCGTTGGTGGCAGTTTGTTACAGCAGCCCCAGGACACCCACACGCCACATAGACAAGGAGGTGCTCTTGCGGCCAGGGCCAGGTTGACTGCTGAGCCTGGCCCATAGGCACAGGACCATGGCCCCCAGCAACCCATGGCCGACCCCGATGCTGTGCAGGCTGATACTCACTGGTGGTGCTTCCAGACATCTGAATGATGCGCTTGGAGTCACGGCTCATTTCCCGGGAATTGAAGGGGCGGACCCGCACCGCCACCTTCACCGAAGCCCCGGCCATCTCTGTGGCCTTCGTGGGTCACTCCTCGCAGTAGTGGGAGCCCCAGTGTGGGGGGAACACCTTGGAAAAAAGGGAAACATGAATTAGAAACAATATCTGAGGAGGCAGGACAGGCACTCCGGCTGCAGCTGAAGCCACAGGTCTTTTCCACTCCCCTCCAAAGCTCCCAGTGTGATACATGCATGGGGTGGAATCCACAAGGAGAGGAGGCAGCGCAGATAATTCTAGAAAGCAGGAGCCCAGCGGGACCAGTGGAACCCAGCTTCGCAAGCCTGAGGAAGCTGAAACCCAACAAAAGAAACAGAAACACAGCGACCTGGGTGTGAACGTGAAGGTGGCCTTCACACCCACGGCAAACCCCCCAGGAAGGGTCTTCCCCTGTGGATGCAGGCGCTGGTGGGCTCCATGCCAGGTCCGCGCAGGCCCCAAGAGCCAGTGCTGGCTCCAGATCGACATGTCAAGGACGCTTTAAAACAGAACAGTGTTCTAGAATGCCCCATCACACCCTTCACACCAAGCGCCAGCTGGTAGCCACATCAGCAGTAGTGTGGTCTCTGAATTAGCAAGAAAGAACTTTACTCAGAAATGAAAAGAACAGCACAGACAGCCCTAAGCAATGGGACAAAAGTCAACGTTTTCGGCCCAATGTCCTGCTGGTAATTCACGCAGAAGGTGGAGAGGAACATTCCTGAGCCCCACTGAGGAGAAGCAGGAGACAAGTCATGGGGAATTCGGTACAAGCCAGGGCTGGGGGACCAGCTTCGGCCTGGCCTTTACCCCAGCTGTGTGACAGCTTCCTGGGCCCCAGTTTACCGTCTGTGAAATGACGGGGTGGTGGTCAGGAACCCCAAAATGATTTGGCCTCTCGGGTACTGGGACTCTGAGGAAGGCTGATGAAAACTCCCCGCAAAACAGTGACGAAGCAGCCACTGTGAAAGGTCTTTCCGGGCTGACCAGCCAGATGCTGCTGCTTCCCCGTGGGACTTGCGGCCTGAACGATGGGGCTCCTGGGCACAGGGACAGGGACAGCCTCGGGACAGAGCTGTTGGTTACAGGAATGGCCAGAACTCCATGAAACAGAATTCATGCAGCCTGACACGAGAGGTTTTCGCCAATTGCTGTCTAAATGCTCTAGGGTGCCCACTCAGTGGTGAGTCCCACATCACCAGAGGCATCCAAGTAGAGCAAAGGCTGGGAGGCCTCCTTGAAACCCTTCCACACTGACATTCCATGAAGAGGCAACCTTCTGCCTGGTCGTCCCCATCTGTAAGTGCCACCCTTGGGGGAATCTGGCAAAAAGCCCCCATCCTACAGTGCCCCAGCCTCATAGCTGTGAAGAAGGGACAAGCCCCTCTGGGCTGCCCCTGGAAGCTCCAGGATCAAGAGCAGGAAGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGCAAGCCTGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGCGAGCCTGGGACAGGATCAAGAGCAGGAAGGGTCTGTCTGCAGAAGGAAAGGGGGCACAGTGAGCCTGGGACCAGGGCAGACGCTGAACTCCTGGACCTTGCCCAGGCCACTCCCAGGCTCCCCAGAACTCCTCCGCAGAACAGGCTGGATGTGGGGCAGGGCTGTCCCTCAGGCAAACAGCTCTTCCAGAGGCTACAGGGGAGGGGGATGTGCCAGGCCACCCTATGGCTAAGTGGGGACAAGTTCCTGATGTGGCTGGACTCGTGCCGCCTACACCACAGCCCCTTAGAGCCACCAGGTGCAGCCGCGTCTACACTCCAGAGTGCTTCCGCCACTATCTCTTCTCACAGCCAGGAGTGGCTGCCAGCGTGGACGGGGGGATGACCTCTGAGAATCTGTGTTTCCTTGTGTTGAAAATCCCTGCACTTTTAAAACTGGAAAAAGTCTTAGGACGTTCCAGCCGGGATGGAGAGAGGAACAGGCAAGTTCACCAGTCCCTGGCTAGAGCAC
Task1_train_5799
This sequence variant lies in AGXT (alanine--glyoxylate aminotransferase) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Primary hyperoxaluria, type I
GTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATGGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTT
GTGCTGTCATCAACAGGACCCGTTGCACCTACATTTATGTGTCTGGAGAAGTGGAAACCGATGCCCAAGAAATCATCAAACAAGCCAAATGGCTACACACACTTTCCCAAAGCAACCAAGACTGGGCCAAAACTTTTACTGATTGGTTTTCAAAAAATCACTTGGCTTCCCCCATTCCTTAGACCTTTATCTTCTGTCATTTTTCTTTTAATATTTGGTCCCTGCCTTTTTAATGCTCTGATTGCTTTTCTATGTTCTACATGAGAACAATTCCACCTGCAGAAGGCTATGCATTCCCAACACTGGCCTGCAACTGCAGCTCGATTTACATGGGGCTTCTTGATGGAAATACCGGCCTGCAACTGCAGCTCCCATTTACGTGGGGCTTCTTGATGGAATCCCATCACGTGCCTCCGTGCACAAGTTTTCATGACCCTTTATTCCCTTCATGACCGAGAGCAAGAAAGGGAAAAACGTGACCTACCCCCCTGAACTCCCTTTCAGCAGCAAGTAGTCAGGCGCACTGGACACCCCTCTTCACTGTGCCGTTTCCCCTTTCTTGAGACCCCAACAGGAAGCAGGTGGACATGAGCATGGCAGAAAAGGAAGGGTCAAAGATTTCACCAAGATATTTGTCAGAGGGAAAATGAGGACAGCAAAGATCACCTGGAGACCATCAAGCAGGCCCCAGGTGGGGTGGGTGGAGGGGAGCCTCTTTATTTGAGAAATGTAGAATGAATTAGACTTCCCTATTATCTAAAGTTGGCACCTGGTTCCAGGCCTCTTTTCAACCTAAAACTTATACATAACTAGAATTTCTATACATCTCTGGAATGCAGCATGCTGAAACTCACTGTGCAACCCCTGCCTTGTGTGTGTCTGTATACCATGCAGGTTTGCTTGCTAAATTGAGCCTGTAAACCAAAAAGTACCTCAAACAGGTCTCAATTAATTTAGAAAGTTTTTGTTGCCAAGGCTAAGGATGCACCCGTGGTACAGCCTCAGGAGGGAGGACATCCTTGCCAAGCTCAAGGGTGCACCCCTGACCACAAGGGCCCAAGGTGGTCGGGGCACAGCTTGCTTTTATACATTTTAGGGAGATATGAGGCATCAATCAATACATGGGAGATTTACATTGGTTCCATCTGGAAGGGCGGGACAACTTGAATTGGGGGGCTTCCAGGTCATAGGTAGATTTAAACATATTTTGATTGGCAACTGACTGAAGAATTATTATCAGCAGAAAGGAGTGTCTGGGTTATGAAATAGGGGTTGCAGGGAGCAGATGATGCCTTCAGGTAGCGGGATTTAGAGAGAAAATAGATGGTAAATGCTTCCTATCAGACTTAAGGTCTATGTCGATGTTAATGCTGGGGGTTATGATGTGGCATGGCCTGAACGTCTTCCGGGTTAAAGTTTAGAGCACCCTGGCGGACAGGGAACCCCATTCAGATGGTTGCTGGGGGGCCTTCGAATTTTATTTTTGGTTTACAAGCCTTCCCATCAGCTGCGCCAGGGTCAGCAAACCACAGTCCATGGGCCCAATCTGGCCTGCCACCTGCTTTTTGTAAATAAAGTTTTATAGGAACACGCCCACACCTCTGGCAGCTGCTTTGCAAGCACGCAGCAGGGTTGAGTTGTTGCAACATAGACCACAGGGCCTGCCAAGCCTCAATTATCTGTGCTCCGACCCTTTAAGAAACACTTCTCTCACCCCTGAGCTAAGCAGAATAAGAGGGGCTGGACGTGCAGGACTCAGAGTGGGAGCGAGGAGGGCTGGGGTGAGGACAGCTTTGTCACACTCTGTTTTTCTGTCACTCAGCCCTGGGGGCTCCCTCTGCCTGAGGGCTTCGTCCCCTGCTGCCTGGCCGTGACCCGCAGCACAAGCACAGATAAGCCTCAGGGAACAAAAGGCAGGGCTGCCACGGAAGCCCATCCACCAATCCTCACCTCTCACCTCTGTGTCCGCCCTGCTGGGAAATATTCCAGGCTTTGGCCAAGGCCAGTGCAGCCCCAGGTTCCCGAGCGGCAGGTTGGGTGCGGACCATTGCCTCTCACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTGGTCCTTCCAACCTGCCTCCTCGCATCATGGCAGCCGGGGGGCTGCAGATGATCGGGTCCATGAGCAAGGATATGTACCAGGTAGGAGTGGGGGTCACTCGGGGGGCCTGGGTCTCACCCATGTTCCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGCCTCCTCACTTGGGGAGGCGGGGAGCCTGGGTCTCACCCTATACCACCCGCATGCAGATCATGGACGAGATCAAGGAAGGCATCCAGTACGTGTTCCAGACCAGGAACCCACTCACACTGGTCATCTCTGGCTCGGGACACTGTGCCCTGGAGGCCGCCCTGGTCAATGTGCTGGAGCCTGGGGACTCCTTCCTGGTTGGGGCCAATGGCATTTGGGGGCAGCGAGCCGTGGACATCGGGGAGCGCATAGGTAAGGGAGAGGCCCAGGTGGGGATGGCCCTGGATCCATCCTTCAAGGCCTCCCTGGCCTCCCTCTGTTTGAAGCTGGCAGCCCCCGTTCCTGGGTGAGCGCTTACCCACCTTGTGGCCCTGTGCGCACGAACCTCCTGCCAGCCCACTGCCTCCTCCAGGCGGTGTCGGGCACTCATGAGGCCTGACTCTGATAGGGCTGGGAGCAGCACAGGTGCCCCGATCCCCCCAGTCTCCTTGAGCTGTTTCTGGAGCATGTGCAGGACGGAACTACAGGGAAGCCTCTGGTCCCAGCACACACTCCTGAGAGCCCCGGCCGCTGTCCAGGGCCCCAGGCACCAGCTCTGCTTTGTGACAGGGTGGGGTTTCAGAAGCTGAAGCCTCCCCTCAAATCTCAGCAGCCTTCCTTCTGGAATCTTGATGTGATACACAAAATATGGAGGTATGGGCAGAGTATTCGCCTCCGGAGTACACTTTTCTGGGAGAGACACAGGAGCAGGAGTGTGCCCTGGGTTTAATGATTGATTGTGGCATTGAGGGACATCAGCTTGGTGAGCTCCACAATGGCCATGCTGGTTAATACGCGACCGCAACAGCCAAGAGGGTCCCAACCCCAAGTCCACAAACTTTTCAAGGGGACCCAGGGTCGGCAGAGGCCAGGACCCCAAGTGGACATCAGGGCACGCAGGCTCAGATGCCTGTGGTATATGGCTTCCCTTTTCCCCATTCTGTCCCCTTGGCCGCAGGTTCTTCCCCTCCCACAACCTGGCCCTGAACAGCACACAGGATAGGGCAGAGACAGGGAGGGGGTGAGGGCCTGATTCCTGGAGTCCCCAGCTCCAACAGAGGTCAAGGCTGCTGCCTCACTCACCCCTCATCCTTCAGTCTGTCATCCATCACACCTGTGGTGTGCCAGCCCTGGACCAGGTACACTCTTTGTGCCAGCCCTGGGCCAGGTGCAGCCCTGACTCCCGGGAGCTCACTCTCTGCTTGGGGAGGCACTGGTCAGTGTGGCCTGAGAAAGGGCATTTGAGCTGAGCTCTGTCAAGAGTGCCCCAGGAGCGTTGGCTCCAACAGCAGGGGGGTCAAGATGGCCCTGGCTCTACACACAGAGAGGCTCTCATTGGGCAGAGTCCACCCTCCTCTTCAGGCAGGCAGCCAGGGTGCCACGGTGGGTGGGGTCCAGCCCTCACAGGGCCCTGCTCAGCAGGGCCACGGGTGCCCAACACTGGCTTCTACAGTGTGTGCGGGACACTCACGGCCCACTCTGTCCTGCACCCAGGAGCCCGAGTGCACCCGATGACCAAGGACCCTGGAGGCCACTACACACTGCAGGAGGTGGAGGAGGTAGGGGACCCGGGGTGGGGGTCAGGGCCGGGAGGAGGTGGGAGTGGGCATGCTGGCTCAGGGGCTGCCTGGAATTGGCCAGCCAGCAGGGTGGGATCATGGCCGGGAGGCTGGTGGCTGACCCTCAGCCCATCCTAGCATCTGGTGAGCGGCCACAGGGGAGGGTTCCATTACCTGGGAATGGTGGGAAGACTGGTAAGGAGGCTT