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_20400
|
This variant affects gene INF2 (inverted formin 2) located on Chromosome 14. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Focal segmental glomerulosclerosis 5
|
GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCC
|
GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGGGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCC
|
Task1_train_20401
|
Gene INF2 (inverted formin 2) on Chromosome 14 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
|
GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCC
|
GGCCGGGCCTGGGAGGGTGGCTTAAAACCACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGGGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCC
|
Task1_train_20402
|
Consider this mutation in INF2 (inverted formin 2) on Chromosome 14. Is this a benign change or a disease-causing variant?
|
Pathogenic; Focal segmental glomerulosclerosis 5
|
ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAA
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ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGACATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAA
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Task1_train_20403
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Consider a variant on Chromosome 14 in gene INF2 (inverted formin 2). Determine its clinical classification and disease relevance.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
|
ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAA
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ACAGTGCACCGGGGGCTCCGGGCTCTCCGTTCTACAGTGCCCAGACCAGGACCCCCTGCAGGGAGGAGGGGCATCCCAAGGACAGCCTCTCAGGATGCTCCTGGCAGCCTGGTGCTGGAGGTGCAGAAGAAGAAACTGAGGCCCAGGCAGGATGAGTGACTGGGCCAAGGTCTGCTGGTGAGGGCCCGGGCTGGGGACATGCAGATCAGAACCCTGGCTTACACCTGTCAGGCTGCCTCCTGGAAGGAGCCCACTGGCCCCCTGGGGCAGTTGGACAGGTGGAGGGCTGAGGGGCGGTGCGGGGAGTAGGGGCTGGACTGCCGGAAACACCAGGCTTGGTCGTGGACCAGGCTGGGGAGTGGGCCTGAGACCTCAAGGGCAGGTGCTCCAGGACACTCTCCCAAGGCAGGAGGGGAGGAATAGAGCCTCCTGGGGAGGCAGGCGCTTGGGTGCTCGACCCCGCTCAGCTCCCGTGACCTCAAATGCCCTTCAGCCTGGGGTCCCCTGACTTACCGGGTTGGGCAGCACTTGAAGCAAAGCCATGTGGGACCTCCAGTCACAGCCCAGCCGTGCCCAGGTGTGGGACTGTGGGCACAGACCCAGCTTCTCTAGGACCCAGCCGCCTCCAGTTCCCCACCTGTTGTGGGAGGTATAAAGTGCCTGCCTTGGAGGTGGTGGGAAGCCGAGGGCCAGGGTGGAGAGTGCTGGGCCGGGGTGGAGGCTCAGAGCGTGTCCCTGCCAGGCCCGGCCCCCTAGCTCCCTCCCCGAGGCTCCACGCTGCTGTTCTCAGACGCTAAATATAAGATCTAAGCCATACATGGTTGCAGGAGGGCCTGGGATGCCCCTGACCTTCGAGGCCAGTTCCCAGGGTCTGTGGTTGGGGACAGCGGCTGGGGGGATGTGGTGGCGTGGAGCTGATGTCAGAGGTGCAACCCGCCTGTCCTGCTGTTCTGTTTTGGGGAAAGGCACGTGTTGGGGCTCTTCTGGGCTGGGCCTGTTACCTACCCGGGTGTTCCCAGGGCTGGAGTCAGACCTGTTGCGACTGAATCCTGGTAAAACCCTGAGTGCCAAGGGTTTCCGTCTTCCTGTTGGTGTGGGCCCCCTACCCACATGCAGACGGGCAGACTGAGGCCCAGGGGAGACCTGGGAGTCGCCCCTCCTCCCCAGCCACGCTGCTGACGCTGTGGGCACCCCAGGCATGCCTGAGGTTTGGAATCTCCCTGTCCATATTGTCCACTGGGGCGGGGGAAGTGCCCTGGGGTGAGATAAGGCAGCCTCAGATGCGCCGTTTTGTCGCATCATTACCGTGGGTAATGTTCCAGCCAGGGGAGCCTCCCGCTCCCCCGAGTCCTCCCCAAGCTCATCCGGTCCCGTCACTCTGCAGGGGCCGTGCTGGCCTCGTGCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGACATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAA
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Task1_train_20404
|
Gene INF2 (inverted formin 2) on Chromosome 14 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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GCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACG
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GCTGCAGGTTTCTGAGCCGGCTCCTCCCCTCCCAGCCCTGAGCCTCGGGGTCCTCATGCGCGCAGTAGGGCCCTTCCTGCCTGCCGCCTCGGTTGCTGAAATTCGGTCAGGGATGGGTACAGGGAAGCCTAAGATATAGTGGGGGACACAGTGCTACCCCTAACCCTCAGCATGGCACGTGAGCAGGAATTGCAGCAGAGAAACTGAGACCGAGGGAAGTGGCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCGGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACG
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Task1_train_20405
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A genetic alteration is present in INF2 (inverted formin 2) on Chromosome 14. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Focal segmental glomerulosclerosis
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GCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACC
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GCCCCGCCTGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGGCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACC
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Task1_train_20406
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A mutation on Chromosome 14 affecting INF2 (inverted formin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Focal segmental glomerulosclerosis 5
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACAAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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Task1_train_20407
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This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACAAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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Task1_train_20408
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The following genetic variant occurs in INF2 (inverted formin 2) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Focal segmental glomerulosclerosis 5
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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TGCGCTGGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACAAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACT
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Task1_train_20409
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Consider a variant on Chromosome 14 in gene INF2 (inverted formin 2). Determine its clinical classification and disease relevance.
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Pathogenic; Focal segmental glomerulosclerosis 5
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GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCA
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GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCCCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCA
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Task1_train_20410
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A variant on Chromosome 14 in gene INF2 (inverted formin 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; INF2-related disorder
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GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCA
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GGTGGCCAGGAGGACAGCCCCCATCCCCTCCCCGCTGACGGCTCCCTGCCCTCTGCCTGCAGCTCGGCAAGATGTCGGTGAAGGAGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCCCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCA
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Task1_train_20411
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The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGTGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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Task1_train_20412
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The variant affects gene INF2 (inverted formin 2), which is on Chromosome 14. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Focal segmental glomerulosclerosis 5
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGTGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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Task1_train_20413
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A mutation on Chromosome 14 affecting INF2 (inverted formin 2) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGTGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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Task1_train_20414
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The gene INF2 (inverted formin 2) on Chromosome 14 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Focal segmental glomerulosclerosis 5
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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AGGGCGCACAGCGCAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGTGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCC
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Task1_train_20415
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The gene INF2 (inverted formin 2) on Chromosome 14 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Kidney disorder
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
|
Task1_train_20416
|
The gene INF2 (inverted formin 2), on Chromosome 14, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Focal segmental glomerulosclerosis 5
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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Task1_train_20417
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This gene mutation involves INF2 (inverted formin 2) on Chromosome 14. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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Task1_train_20418
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A variant has been detected on Chromosome 14 in INF2 (inverted formin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Focal segmental glomerulosclerosis 5
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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Task1_train_20419
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Consider this mutation in INF2 (inverted formin 2) on Chromosome 14. Is this a benign change or a disease-causing variant?
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Pathogenic; Charcot-Marie-Tooth disease dominant intermediate E
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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Task1_train_20420
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The following genetic variant occurs in INF2 (inverted formin 2) on Chromosome 14. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Inborn genetic diseases
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCGGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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CAAGTGGGCAGCGCTGAAGGAGAAGCTGGGGCCACAGGATTCGGACCCCACGGAGGCCAACCTGGAGAGCGCGGACCCCGAGCTGTGCATCCGGCTGCTCCAGATGCCCTCTGTGGTCAACTACTCCGGCCTGCGCAAGCGCCTGGAGGGCAGCGACGGCGGCTGGATGGTGCAGTTCCTGGAGCAGAGCGGCCTGGACCTGCTGCTGGAGGCGCTGGCGCGGCTGTCGGGCCGCGGCGTTGCACGTATCTCCGACGCCCTGCTGCAGCTCACCTGCGTCAGCTGCGTGCGCGCCGTCATGAACTCGCGGCAGGGCATCGAGTACATCCTCAGCAACCAGGGCTACGTGCGCCAGCTCTCCCAGGGTGAGCCGCAGTGTGGGAGGGCCGCCCAGGCGGACGCTGGGGACCTGGTATGAGGCTTCAGGCCCAAAAGGCCCCGGGAGGCCTGGGGAACCACCAGGAGGAAGCGCAGCCAGGCAGGCAAGGAGGGCTTCCTGGAGGAGGACTGGCTTCCTGGGCTCAGGAAAAACATCCACATTCACTCCGAGTCTGAGGCTTCCAGGTCACCCCAGTCCCCGCACTGCTGCACCAGCGGTCCCCCTGTGCCCCTCTCTGTTGTGTGGCTCTGCCCCACCCTTCCTCCCCGTCCTGTGCTGGCTCCCACCCTCTGGGCTCTCTGCCCTCGTCCACACCTCGGCGGCAGGAGTCACTGAGTCAGAGATGCGAATCCACCCGAGTGGCTCCCTACATACACCTGCCTAGCTCCAAGCCCTTCAGCCTCAGCCCAGACAGAGCCCTTGAGGTCTGGCCCACACCTACTGATGGTGTCACCCTCCACCTCCCAGCGCCTTCCCTAGCGCCTCCCTCCCCGCCCTGTCCCCTACTCCAGCACCCAGGGGACTCGTTCCCGGCAGGCAGGCAGGCCCTTGGTCTCTGCCTCTGCTCGTGTTTTCTGCCTTTGCGTCCTCCAAGGTCCTGCGCCGCTAAGCCTTTAAGCCCCAGCTCACTTTCCTGTCCTCCAGGAAGTCTCCCCAGGCTGTGCCCAAAGTTAGTCCCGGTCCCTTGAGAGAAACCCTTGCTGTGCCACTCCATGGCTGCTGCCAGGTCCTACCGATGCTTGGGGACGAGCTAGGGTGGGCAGTGATGGGCGGGGCTGGGCCCATGGGGGCGGCAGTTACCTGTGCAGGCAAGCAAGCCAGAGGCGCCTCGTTTCTGTCGGACCCAGGGGACAGAGGCAGGTGTAGGGGCCAGCCATTCTCAGCCCGTCTCCCCAGCCTGGGCCTGGCAGGGCCCCTCTATGGAGTCTTTTGTGAATTGTTCTCAGCAGGGTCAGATGAGAGACACCCCCAGAACTTTCACAGCTCCAGATGGGGTGGGAGGCAGGGGTTCATAGGAATGAGGTTGTGTCTGCCATAAACACAGTAAGTGCTGCATTGGGAGAAAAGCTGGGCCCAGAGCCAGTGACAGGATGGGGCAGCTGCCTCCAAGCCCTTCCCTGCAGGGTCTGGCCCTGTGGTCCAGGAGCAGGGCCAGGACACCGAGGAGTGGGGCACCTCGTTGGGTCCCAGCCCACTGCTGTGGGCCACAGACAAGTGCCCGGCACCCCCTGGCGTCTGCCTGCCAGGCCCAGAGCCCCAGCCCTGAGCCCAGCTGCACAGGCATGGGAAGGGGTGCATTGGCCCTGCTGAGCCTGCCCACTCCACCCTGGCAGCCCTGGACACATCCAACGTGATGGTGAAGAAGCAGGTGTTTGAGCTACTGGCTGCCCTGTGCATCTACTCTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCACTACAAGGTGGGCGGCAGGGCCTGGGCCTGGGCACATGGGGCTCCCTGCCTGGGTGTGCCCTGACCCCGCCCTCCCCACAGACGGTGTGCAGCCAGCAGTACCGCTTCAGCATTGTCATGAACGAGCTCTCCGGCAGCGACAACGTGCCCTACGTGGTCACCCTGCTTAGCGTGATCAACGCCGTCATCTTGGGCCCCGAGGACCTGCGCGCGCGCACCCAGCTGCAGAACGAGTTTATCGGTAAGCACCTGCCCTGGGCCGCATGCCCGCTCCTGCCCGCCTCTTGGCCAGTGCATCCCATGCTGCATCCACCTGGGGAGGTGGGAGCGCCACAAAAGCTGCCCCCGACCCAGGGCCCCAGAGGAAGGCGCCATCTCGGGCCTGCCACCACCTGCCCCTTCAATGGACACAGGCCTCAGAACGCCTGGGGGTCAACCCTGGACCGTTCTCATTTGTGAGACTGGCCAGGCAGTGGAGCCGGACAGGGGGCCTGAGACCTCGTTCTAGCCCTGCCAGTTCTGGCAGTGAGCCCTGAGTAAGCATCACTGTGTGTCCAGCATGATGTCTCCCCTCCAGAGCCTCAGGTCTCTGGTGTCCCATGAGTGCAGCAGGGCAGGGTCAGGTGCTCTGGGTGGCAGAAGTGAAATGGGGAAGGCGGGGAGTGGCCTCCGAACCCTCTGACCCTGTCCGTCCCTTCCCAGGGCTGCAGCTGCTGGACGTCCTGGCTCGCCTGCGGTGAGTCCCCACTGTAGCGGTCCTGCCGGCTCCCCCTCCTGCTCCCAAGGCCAGGCCCACCTGCCCTTTGGCTCCCAGCCACCTCACCTAAGCAGCACCTCCAGATGGCAGGGAGGTGGCTCCCTCGGAGTAACCCCAGGGGTCCAGCCAGAAGCCAGGTCTCAGGCTAGAATCCAGCTCACTGTCCCTGGCAGCTGCCCACAGAAACTAGGGTTGCAGCAGCCATAGAAAGGACAGAATGAGCTCATATCCTTTGCACACCGTGGATGGAGCTGGAGGCCGTGATCCTAAGTGAACCAACCCAGAAACAGAAAATGAAATGCCAATAAGAGGGAACTACAGGGTGGTTCACGTGGACGCAAGATGGAGACAGGGACACGGGCTCCAGGGCGAGAGTTGAAAAACTACCTACAGGGTACAGTGTTCGTCGCTACTTGGTGTCAGGCCCACTAGAACAAGGGTCCCCAACCGCCAGGCTGCGGACCGGTACCTGGCCTATTGGAACCGGGCCACGCAGCAGGAAGTGAGCGGTGGGCGGGCATTCCTGCCTGAGCTGCACCTCATGTCAGATCAGCACTGCATTAGATTCTCCAGCGCACGCACGCGCGCAAGGGATCCAGGCTGCGCGCTCCTCATGACAATCTAATGCCTGATGATCGGGGGTGGAACAGTTTTATCCCTAAACCATTCCCGTCACCCCAGTCTATGGAAAAATTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGGCTGGGGACCACTGCCCTAGAAGGCAAATCGCCTACGTTACACAGTGTACCATGTGGCAAACACGCACATGTACCCCCGAGTCTAAAATAAAAATTTTTTAAAAAAGAAACTAGGGTTGCCAGGTACTGTATGGGACATGCAGTTCATTCAGGTTTCAGATACACAACAGACGATATTTTGGTGTAAGTATATCCCAGATGTTGCATGGGATATACTTATGCCAAAAGTTATTCATTGTTTGTCTGAAATTCAAATTGAACAGGTACTCTGTAGTTTCATTTGCTAAATCTTGCAGCCCTGCTGGGAACCCACATAGCTGAGAAGCTCTATCCAGGCCTCAGTCAGGACTGTACTCAGGGGGGTGTCCTTACACCCAGGGAAATCAGCTTGGAGGAGCCCAGGGCTAGAATGCCTGGTGTTGAAATGGCCTCAGGGGCCAGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGATGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGCCGTGGTGGCATGTGCCTGCAATCCCAACTACTCAGGAGGCTGAGGCAGGACAATCATTGGATCCCAGGAGGTAGAAGTTGTAGTGAGCTGAGATCGTACCACTGCACTCCAGCATGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAACAGAAATGGCCTCAGCAAAGTTTGCCCACATGGGTGCCTGTGCCCCACCAGTGTGGGCT
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Task1_train_20421
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A mutation on Chromosome 14 affecting ADSS1 (adenylosuccinate synthase 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Myopathy, distal, 5
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TGCCTTCCCCAGCTCACAAAGCCTAGTGGTCTGGTGTGTTCAGGAAGAGCGCTCGCCGGCTCGGGTGGCATTGTGGGCCAGGCCTTGCCCATTGTGAGCCTCAGCTGCTGGACAGGCTTACCAGGGGTGTGGGGATGTCCGGGAGCTGGATGTAAGGACTGTCGGTGGAGGCGGGGCACCCTCAGGGATTCTGAGAGCTGTGTGCAGGGAGGAGGGGGAGCAGCAGGGCCAGGCTGCACAAGGCTCCCACGACAGCTCACATGACGTCCTCCCTGTTCTCATGTAGGAGATTGGAGGCCTGCTGCAGACCCGCGGCCACGAGTGGGGAGTGACCACAGGCAGGAAGAGGCGCTGCGGCTGGCTCGACCTGATGATTCTAAGATATGCTCACATGGTCAACGGATTCACTGCGTAAGCAACCCATGCTGCCATCCCCACTGGGACCGTCCCTGACTCCCGACACCTGCAGAGGCAAGCAGCACTTGACGCAGGGGCTGAGGGCCACCAAGTCTCCTTGGACAAGGTTTCCACTGATCTCGACCCTTCCACAAAGCACGGCCCAGAGGTTAGCGGTATGGAGGCCTGTGCAGGGTGTGTTGGAGCCAGCCGTAGGAGCACAAACTCCCACCCCAGGGCTGATGCCGTGAAGGATGAGGGCATCCCGGCACTTGTGAGAGGTTAAAATGCTTCATGTGGAGAGCGGAAGTACCCAGGACGAAAGGATGCACTGTCATCCTGCTAGAAGGACGGCAGCATGGGTGCCGGCCTGTTGAGGCATCCGCTCTGCAGGCCCCTCTGCTTTCCACAGACTGACCCAGGCTGCCCAGCTGTTCGGGCTGTCTCCCAGGGATCTGAAAGAGGCTTTGTGTGAGGGGTGGGCTCACAGCTTCCTTTCCAGCTCAGTCAGACAGGCCAAGGCTGTGAGTCGCACATCTTTCACCAGGGTTGAGAGCATCAGCCAAAATTCCTGGAGAATTAACCAGACCCCTGCTAGGTGGGTATAGAGCTAATCCGGCAACGGGAAGCAGAGGAACCGAGTAGCTGAGGGTGTGGCGTCTGGGATCCGTGACCCTCACTTTCCTTGTGCGCGATGCAGGGTTCACGGCGCAGCCTCATCACGTGCTAGGGCCAGCATGGAGGACAGGCAGGGTCAGCAGTGCTCAGCAGACCCATCCATAGCCTGCTGCATCTGGCGCCCCTTCAGGCTTTGCCCACGGAGGGAGGAAAAACAGAGCCCATGGCACAGGGCCTGGTGCCGAAGATGGACCAGGAAGGGAGGCTGCCATCATTGGCATCAGTGGGTGGGTGGGCAGGGACCAGGAAGGTGACTAGGACAAGGGTGCCATGCTCACGGGCTGGACACAGGGCAGTGCTGGGCCCTAAACACGGCTGTGCTGTGGGGAAAGTGCACGTGTGGGGACGGGAGGGGAGAAGTGGAGCCTGGGGGAGCAGGGGTCCCGGGGGGCACTCGAGGTACAGGGGACTTGGAAAGGCAGAGATGAGGTGCAGGGCGTGAGCAGAAGCCCCCACCCTCTGGCATGTTTGTCAATGGCGCTTTTTTGGGATCACTTAATCTCTCTTTTCCACTCAGTGTAAATCAGCAGTCCCTAACTTTTTTGGCACCAGGGACCAGTTTGGCGGGAGATGATTTTCCCACAGACAGGGCAGGTGGCAGGGGTGTGGCGGCGGATGGTTTCGGGATGAAACTGTCCCACCTCTGATCTTCAGGCATTCGATTCTCACAAGGAGCATGTGGCCTAGATCCCTCGCATGCACAGTTCACAATAGGGTTCAGGCTCCTGTGAGAATTGAATGACAGGAGGTGGAGCTCAGGCCGTAATGCTAGCTTGCCCGCCACTCATCTGCTCTGCAGCCCAATTCCAAACAGGCCACCAACCAGTACTGGTCCACAGCCCAGGGACTGGGGACCCCTGCTGTAAGTAACAGAAGCGAGAGGTCAAAAGCAAGCGGAAGAAACCCCAGCACTGCTGACCACTTCTTGGGTTTGCCCGGCCCCTTGGCTTTCCACAGGCTGGCCCTGACGAAGCTGGACATCCTGGACGTACTGGGTGAGGTTAAAGTCGGTGTCTCATACAAGCTGAACGGGAAAAGGATTCCCTATTTCCCAGGTATGTGAAGTGGGGCAACCGTTCTGCCTGTTGGGCCGTTTCATGGTATTGGAATAGATAGGACCTGTGACTTCTCAGAGAGGGGTGAGTTCCCACGTTCACAGGACACAGGGCAAGCAGCTTGTCTCCAGTGACCAGCCTCCATCATGGCTTTTGCCTCTCACGGGTTTCTCCCCACAGCGTTCCCCAGGAGGCCTGGCTGGGCAGGGGTGGCTGTAGGCCCCTTCCAGTGTTTTGGGAATGGCTCAGGGGGACAGACTACTCGCCTGGGACCCTGGGGGACCTTCAGCTGCCTTGAGGAAAAGGCCCACCTGCAGGGAGCCACGGGAGGCACACAGGAGTTAGTGGATGCGGTCGGCTCTGGAAGATGTAAAGCTCTATGCGGACGTACAGGATGACTATTTCATCTGAGAAAATACGCTTTGTGGCGAGATTTTTAAGACCTAACCGGGATCCCTGCTCCATGCACCCCTTCTTCTGGAAAGCATGAAGGAGGTGCCATTTTCCTGGGTTTCACAGGTTTCAGTTTCGTGTGCGTCTGGATGTGCCCCCTCGACCTCGGTCCAGGGTCATGTTCTGACCCTGTTCCCCACAATGGCTTCCTCCTCAGCAGCCCTGGGCGAGCTGCTCCTGGCTGGTCTCCACTCAGCAGATCTTTGTAGGCCACACAGGGCCACTTGGCTACAGGAGCCATGTGTGTCCTTGCAGGCGGTGTCCCTGACCCTCCTGACCCTTGACCTTTGAGAGGCTGCACTTGTGAGGACTGCAAGCTCTCCTCATGGTGGTCCAGGGTCCCAGGGGGACACGCAAACACTGCCTGGCTCCAAGGCTCAAACACACTTGCAGCGAGAACCCGTATTCCAGCATCTTCCATCTGTAAGGGTGGTTGTCTTCTACCAGGAGCCACAGAGTCCTGCACAGGGCCGGGATCCCTGCCCTCTGGGAGTTGATGCTCTTGGGGTGGGAGGACACAGATGCTTCAGGATCCCTTAGTGCTTCAGGATTCTAGAGTCTCAGAATTTCCAAGCCAAGGCTTGGAGTGCCTCAGCTGATGTCACAGTGGAGGTTCTAGCAGAGTGGGTAGCACATATGTGTCATGTCCCTCTGGTCTGGAAGGCGTGTAGTGTCTGAGCCCCACTGCTGTCCCCTGCTTACCACCCAACACTGAGAAAATCAAACTGGGCCACGTGCCCACTTGCTGCCTTCCTTGCAGCTGAGTCCCTAGGCAAGGAGGCCCTGGATGGGGGTGGCCGTGTCACCAAATATCCGCTTCCCTGGTGATAGGAGGTCTGTGGGCCCCACTCATCTCCTGTGTGCTTCCCCCAGCTAACCAGGAGATGCTTCAGAAGGTCGAAGTTGAGTATGAAACGCTGCCTGGGTGGAAAGCAGACACCACAGGCGCCAGGAGGTGGGAGGACCTGCCCCCACAGGCCCAGAACTACATCCGCTTTGTGGAGAATCACGTGGGAGTCGCAGGTGGGTGCCCTGCATCCCCAGCCACCCTCCCTGCACCCTGGATGCCCCAAGGGGCCCACATCCCAGCGCAGGGCTTGGTGAGCAATAAGAAAACCAAGTGTGGTCACCAAGCGAATATATTGCATGGCAGGAGGGGAGGACGACTCGGAGCTGGGGCAGTGTGGCTCCGGGCTAGGGTGTGGGTGTGACCTTGCCGGGAGCCCCTGCCTCTCCGCATCCAGAACAACAGATGGGACACATCCCAGCCATATGAGTGTGTCATGTTTACCCTCATAACCCAGAGGTGTTTGCACCTACAGAGAAAGGGTCTGCAGGGAGAGTCACTAAGTAACTAACGTTGCCATTTCCAAGGAAGAAGGGAGGAGACTCCTGTTTTCCGCTGCGGGAGGATCAGTCCCCCAACATGCACTACCTTCATAACTTAAAAATTAGAACTGCCTCCATTTGGAGAGAAAATAGCCCCTTTTACCATTTGAACTACACAGAAAGAT
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TGCCTTCCCCAGCTCACAAAGCCTAGTGGTCTGGTGTGTTCAGGAAGAGCGCTCGCCGGCTCGGGTGGCATTGTGGGCCAGGCCTTGCCCATTGTGAGCCTCAGCTGCTGGACAGGCTTACCAGGGGTGTGGGGATGTCCGGGAGCTGGATGTAAGGACTGTCGGTGGAGGCGGGGCACCCTCAGGGATTCTGAGAGCTGTGTGCAGGGAGGAGGGGGAGCAGCAGGGCCAGGCTGCACAAGGCTCCCACGACAGCTCACATGACGTCCTCCCTGTTCTCATGTAGGAGATTGGAGGCCTGCTGCAGACCCGCGGCCACGAGTGGGGAGTGACCACAGGCAGGAAGAGGCGCTGCGGCTGGCTCGACCTGATGATTCTAAGATATGCTCACATGGTCAACGGATTCACTGCGTAAGCAACCCATGCTGCCATCCCCACTGGGACCGTCCCTGACTCCCGACACCTGCAGAGGCAAGCAGCACTTGACGCAGGGGCTGAGGGCCACCAAGTCTCCTTGGACAAGGTTTCCACTGATCTCGACCCTTCCACAAAGCACGGCCCAGAGGTTAGCGGTATGGAGGCCTGTGCAGGGTGTGTTGGAGCCAGCCGTAGGAGCACAAACTCCCACCCCAGGGCTGATGCCGTGAAGGATGAGGGCATCCCGGCACTTGTGAGAGGTTAAAATGCTTCATGTGGAGAGCGGAAGTACCCAGGACGAAAGGATGCACTGTCATCCTGCTAGAAGGACGGCAGCATGGGTGCCGGCCTGTTGAGGCATCCGCTCTGCAGGCCCCTCTGCTTTCCACAGACTGACCCAGGCTGCCCAGCTGTTCGGGCTGTCTCCCAGGGATCTGAAAGAGGCTTTGTGTGAGGGGTGGGCTCACAGCTTCCTTTCCAGCTCAGTCAGACAGGCCAAGGCTGTGAGTCGCACATCTTTCACCAGGGTTGAGAGCATCAGCCAAAATTCCTGGAGAATTAACCAGACCCCTGCTAGGTGGGTATAGAGCTAATCCGGCAACGGGAAGCAGAGGAACCGAGTAGCTGAGGGTGTGGCGTCTGGGATCCGTGACCCTCACTTTCCTTGTGCGCGATGCAGGGTTCACGGCGCAGCCTCATCACGTGCTAGGGCCAGCATGGAGGACAGGCAGGGTCAGCAGTGCTCAGCAGACCCATCCATAGCCTGCTGCATCTGGCGCCCCTTCAGGCTTTGCCCACGGAGGGAGGAAAAACAGAGCCCATGGCACAGGGCCTGGTGCCGAAGATGGACCAGGAAGGGAGGCTGCCATCATTGGCATCAGTGGGTGGGTGGGCAGGGACCAGGAAGGTGACTAGGACAAGGGTGCCATGCTCACGGGCTGGACACAGGGCAGTGCTGGGCCCTAAACACGGCTGTGCTGTGGGGAAAGTGCACGTGTGGGGACGGGAGGGGAGAAGTGGAGCCTGGGGGAGCAGGGGTCCCGGGGGGCACTCGAGGTACAGGGGACTTGGAAAGGCAGAGATGAGGTGCAGGGCGTGAGCAGAAGCCCCCACCCTCTGGCATGTTTGTCAATGGCGCTTTTTTGGGATCACTTAATCTCTCTTTTCCACTCAGTGTAAATCAGCAGTCCCTAACTTTTTTGGCACCAGGGACCAGTTTGGCGGGAGATGATTTTCCCACAGACAGGGCAGGTGGCAGGGGTGTGGCGGCGGATGGTTTCGGGATGAAACTGTCCCACCTCTGATCTTCAGGCATTCGATTCTCACAAGGAGCATGTGGCCTAGATCCCTCGCATGCACAGTTCACAATAGGGTTCAGGCTCCTGTGAGAATTGAATGACAGGAGGTGGAGCTCAGGCCGTAATGCTAGCTTGCCCGCCACTCATCTGCTCTGCAGCCCAATTCCAAACAGGCCACCAACCAGTACTGGTCCACAGCCCAGGGACTGGGGACCCCTGCTGTAAGTAACAGAAGCGAGAGGTCAAAAGCAAGCGGAAGAAACCCCAGCACTGCTGACCACTTCTTGGGTTTGCCCGGCCCCTTGGCTTTCCACAGGCTGGCCCTGACGAAGCCGGACATCCTGGACGTACTGGGTGAGGTTAAAGTCGGTGTCTCATACAAGCTGAACGGGAAAAGGATTCCCTATTTCCCAGGTATGTGAAGTGGGGCAACCGTTCTGCCTGTTGGGCCGTTTCATGGTATTGGAATAGATAGGACCTGTGACTTCTCAGAGAGGGGTGAGTTCCCACGTTCACAGGACACAGGGCAAGCAGCTTGTCTCCAGTGACCAGCCTCCATCATGGCTTTTGCCTCTCACGGGTTTCTCCCCACAGCGTTCCCCAGGAGGCCTGGCTGGGCAGGGGTGGCTGTAGGCCCCTTCCAGTGTTTTGGGAATGGCTCAGGGGGACAGACTACTCGCCTGGGACCCTGGGGGACCTTCAGCTGCCTTGAGGAAAAGGCCCACCTGCAGGGAGCCACGGGAGGCACACAGGAGTTAGTGGATGCGGTCGGCTCTGGAAGATGTAAAGCTCTATGCGGACGTACAGGATGACTATTTCATCTGAGAAAATACGCTTTGTGGCGAGATTTTTAAGACCTAACCGGGATCCCTGCTCCATGCACCCCTTCTTCTGGAAAGCATGAAGGAGGTGCCATTTTCCTGGGTTTCACAGGTTTCAGTTTCGTGTGCGTCTGGATGTGCCCCCTCGACCTCGGTCCAGGGTCATGTTCTGACCCTGTTCCCCACAATGGCTTCCTCCTCAGCAGCCCTGGGCGAGCTGCTCCTGGCTGGTCTCCACTCAGCAGATCTTTGTAGGCCACACAGGGCCACTTGGCTACAGGAGCCATGTGTGTCCTTGCAGGCGGTGTCCCTGACCCTCCTGACCCTTGACCTTTGAGAGGCTGCACTTGTGAGGACTGCAAGCTCTCCTCATGGTGGTCCAGGGTCCCAGGGGGACACGCAAACACTGCCTGGCTCCAAGGCTCAAACACACTTGCAGCGAGAACCCGTATTCCAGCATCTTCCATCTGTAAGGGTGGTTGTCTTCTACCAGGAGCCACAGAGTCCTGCACAGGGCCGGGATCCCTGCCCTCTGGGAGTTGATGCTCTTGGGGTGGGAGGACACAGATGCTTCAGGATCCCTTAGTGCTTCAGGATTCTAGAGTCTCAGAATTTCCAAGCCAAGGCTTGGAGTGCCTCAGCTGATGTCACAGTGGAGGTTCTAGCAGAGTGGGTAGCACATATGTGTCATGTCCCTCTGGTCTGGAAGGCGTGTAGTGTCTGAGCCCCACTGCTGTCCCCTGCTTACCACCCAACACTGAGAAAATCAAACTGGGCCACGTGCCCACTTGCTGCCTTCCTTGCAGCTGAGTCCCTAGGCAAGGAGGCCCTGGATGGGGGTGGCCGTGTCACCAAATATCCGCTTCCCTGGTGATAGGAGGTCTGTGGGCCCCACTCATCTCCTGTGTGCTTCCCCCAGCTAACCAGGAGATGCTTCAGAAGGTCGAAGTTGAGTATGAAACGCTGCCTGGGTGGAAAGCAGACACCACAGGCGCCAGGAGGTGGGAGGACCTGCCCCCACAGGCCCAGAACTACATCCGCTTTGTGGAGAATCACGTGGGAGTCGCAGGTGGGTGCCCTGCATCCCCAGCCACCCTCCCTGCACCCTGGATGCCCCAAGGGGCCCACATCCCAGCGCAGGGCTTGGTGAGCAATAAGAAAACCAAGTGTGGTCACCAAGCGAATATATTGCATGGCAGGAGGGGAGGACGACTCGGAGCTGGGGCAGTGTGGCTCCGGGCTAGGGTGTGGGTGTGACCTTGCCGGGAGCCCCTGCCTCTCCGCATCCAGAACAACAGATGGGACACATCCCAGCCATATGAGTGTGTCATGTTTACCCTCATAACCCAGAGGTGTTTGCACCTACAGAGAAAGGGTCTGCAGGGAGAGTCACTAAGTAACTAACGTTGCCATTTCCAAGGAAGAAGGGAGGAGACTCCTGTTTTCCGCTGCGGGAGGATCAGTCCCCCAACATGCACTACCTTCATAACTTAAAAATTAGAACTGCCTCCATTTGGAGAGAAAATAGCCCCTTTTACCATTTGAACTACACAGAAAGAT
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Task1_train_20422
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Here’s a variant in AKT1 (AKT serine/threonine kinase 1) located on Chromosome 14. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Cowden syndrome 6
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ACCTGGGCCCCAGCCTGTCCCCTCCCGCCCCCTGCAGCCCCTCCTCCCACCGCCTGCAGCCCCTCCTCCCGCTCTGTCCAGCTTCGAACAGGCCACTCAGGCCTCCCAGCCTTACTTCCACCGTGGCCCAGGCCATGACCTTGGCCCCAACTCTGGGCCCTGCCCTATCTGTCCTTCCTGGTGGTCTGTCTCATTCACTGCCCTACCCAGGGGAACAGCACCTGGGGCTGGGGGGCAGATGGCCACGTGGTCCAATGGTCTCCTTCATGGCTGGGGTGAAGCTGGGTGGGGTCAAGGGAAGAAGAGGTGGATCCCAACGGGGGCAGGGCCAGCCAGGGCCTCCCATCTCCCCTCAGGCCAGGCCTCTGGAGATGGGGGTGGAACACCTTCCATGGGAGGCTGCCCCTGGGAACAGGCCTGTATACTCCCGCCTCGGCCCACCACACAGCCTGTCCCCAAACCTGTTGGGGTGGCGGTGCCCACCAGGAGGAGCTGGGGAGGACCAGCTGCTCTGAGGATGCTGCTTCCCTCCCAGGACTCCCCACTCCCTCCCTGGCCACCCACTCTTCCACCCAGCAAAGTGAGCCAAAAATTTGAAAAGCAACTTTTATTGAAGAATTTGGAGGGAAGGTTCCATATTATATTATAATAGTAAAAATACTAAAGTTGAATGTTGTAAAAAAACGCCGTGGTGCAGCGGCAGCGGCAGCGTCTGGCCAGGAGGCGTGGAGGGGCCCAGGGATGGCCACCCCCACAGGGAGTCAGGGAGGGCCTGGGGCGACAGCGGAAAGGTTAAGCGTCGAAAAGGTCAAGTGCTACCGTGGAGAGATCATCTGAGGGGGAGGCTCCCGGTGGGACAGTCACCAAGAACTGTGACACAGAAGGGGAAGGGGGAGGGCTTTCCTGTCACAAAGATTAAAAACCCCCAAAATGCATTTGAACAACATAATACACAATAACAAATTTAAACCTTGCTCCTCTGTCCCACTGGGTAAACCCTGGCCCATCCCCCATCCCTGGTCCCATCCCAGGGGCCCAGCCTCCGATGACGTCCTCAGAGACACGGCCTTAGTGCTGGGGGGCTGCTGTGTGCCTGCCACCCCCAGGAGAGGGTGCTGGCCAGCATACCATAGTGAGGTTGCATCTGGTGCCACCAGGTTGAACTGAGGCCCAGGGCCCCAGAGAGATGACAGATAGCTGGTGACAGACAGCCCAGGGCGGCTGGCTGACAGAGTGAGGGGACACATGGGCAGGACCTGCCCGGCCCCCCAATGCCACATTGCGCATAGCTGCAGAAGTCCTTAACATTTCCCTACGTGAATCGGATTGTTCTGAGGGCTGAGGCCACACCCGGAGAACAAACTGGATGAAATAAATTAAAACCCGCAGGATAGTTTTCTTCCCTACCCCGCTGCGGGGGAGGGTGCTGCCCACAGCACAAAAACGTCTTTCCATCTGGGCTCGAGAGGACAGCGTGGCTTCTCTCAAATGCACCCGAGAAATAAAAACCATTAAATACAGATCATGGCACGAGGCCGCCTCTCCATCCCTCCAAGCTATCGTCCAGCGCAGTCCACCGCCGCCTCAGGCCGTGCCGCTGGCCGAGTAGGAGAACTGGGGGAAGTGGGGCCTGCGCTCGCTGTCCACACACTCCATGCTGTCATCTGTGGGTGTAGACAGCTCAGACCCCGGTGCCCCACCTCCCTGCCACCTCCACCCACCCACAGCTCCAGTAGGAAGCCAACCTCTTAAAGCACGGCCAGCACGCTGCCATACTGCCAGGAAACTGAGACAGGGCCCCACAGATTGACACAGGGACCTGGGCCCTCAGAGCACTGCCTCCCACCCTGATCATTGGCACTCTCCAAAAGGAACCTTTTTAAATATTTAGATTTTAAAACATCTGAAGCCAAAAAAGCTGAACACTGCAGGCCTCTCTGAGTGTGGAGAGAAAAGGGAGTGGGCGGGGGCAGGCAGTGGCCCCTCACCTTGGTCAGGTGGTGTGATGGTGATCATCTGGGCCGTGAACTCCTCATCAAAATACCTGGTGTCAGTCTCCGACGTGACCTGGGGCTTGAAGGGTGGGCTGAGCTGCAGAGGTGGGCAGACGGGACAGTCATGAGCTTCGCTCCCCACTCCCAGCACACCCTCAAGTGTGCTCAAGACCTTCAAAGCACCTGGATCTCCAAGGGGTCTCCAGGCAGGACTGATGTCAGAGAGCAGCAAGCCACCAGCCCCCCACAGAGGCAGCTCTGGGAGGGAGGGACATGAGGGGTGCAGGAGCACGGAGACAACCCTCAACAGCTGAGACGCAAAGCTGCCCTCACAGCAGCCCCAGCAGGCGACAGGAGGTAGTGCAGCCCAGCTCTGAGAGACCCTCCCTGCTACCAGGAGGTGATAACTTTATTTTTCCTTTTTCTTTCTTGTTTTCTTATTTTTCTTATTGGTCTTCTTGTAAATTGGGAAAGAGGGAGACTGTGGAACAAGGTGCACAGGATGAGCCCACCCTGCCTCCATGGCTCAGGGACTACAGGACCACAGCCTGCTGGCATCTGGCTGCAGACAGGACTCTCAATGACCCAGGATGAAGGGTGACTATAAGGTGATGTGCACACGTGAGGAGCTGCCAGAGAGCCCCTCAGGTCCCACAGTCAAGGACCCCCTCAAGCACTGCCCCACCCCAGAGTCTGGGCTGGGCACCAGCATTGTCCATTGTCAATTAGCAAGGTCTCTGGTCAAGGCTGGGCAGAGGTTGAGCACTGCCCAGGCCCCCCATACCCTTGGAGGGCAGGGCAGGAGGGTGGCAGGCCTCAAGGCAGGAACGGGGACCAGGACCAGGGCACCCTGTGTTAATGGGAGAACAGGTGCCCAGCTGGGTCCCAGGGCTGCCCAGCCCGACCAGCTGCACACAGCCTAGGACAGGCATTCAGGGGAGGGGCAGGCTGGGAACGGGGCAGAAGCACACCTGGTGACAGGGCACCCAGCATCTCAGAGTGCAGGCTTCCGAACCCAGCTGGCAGACCCCATCAGCTGGGGTGATGGCCAGGGCTCCTAGGGTCCCTGAAAGATGAGCACCCAGGATGGCGACTCATGCAGAAAGAGCTGCCTCCCTCCAGGGCGGACTCCCCCATGTGCCAGAAAAGTAGGTGCTGTCCCTGTCCCTGCACAGCCAGAAATAGGGCTGGGCTCTCCTTGCGGCAGAAGGGATTGAGGTCAAACAGGAGGAACTCGTGGAGGCCAAGGGGCAGCACCCCTGGTCCACCACCAGCCAGCCTTCACTGCACAGCGTCAGGGAAGGGAACCCCAAGGCTGGCACTCAGAGTGTGACACACCTCCGAGGGGAGGAGGAAACTCAGAGTGTGACACACCTCCGAGGGGAGGAGGAAATGAGGACCAGGCCAGTTTCCTGGTGGAACCCGGCAGTGCCAGAGCCTCTGAGCACCAGGCGCTGAGGTTGGTGCAGCAAGGCCCTCCTTGTACCAGGACTGCAGCAGGCTCCTGAGGTGAGGGCGAGTGTGTGGGAAATCTGGCGAGCGTGCCACGTGCATGCGTGAGTGTGGATATGTGGGGAGCATGCGTGCGCGTGAATATGCGGGGAGCAGCCGCACCTTCTTCTCGTACACGTGCTGCCACACGATACCGGCAAAGAAGCGATGCTGCATGATCTCCTTGGCGTCCTCGGAGCCCCCGCCAAGCCTGCAGGCAGGAAACAAGGCCACAGTGTCGGTACCGCCACCTGCCCAGGCCCTGGGTTCAGGCCCCTTCCTCCTGTGATGTAGGGCCCGCCAGACAGGACGTTCCGGGGCCAGGGAGGGGAGCCGGTGGTGCAGCGTCCCTGAGCAGCTGTGGGTAGCAAAGCACCACAGAGCTCACGGCAGGGCAGGGGCTTCCTGAGTGGGTGGGTGCAGGCTGCAGGGTTGGGGACAGAGGCCCAACTGACCCCGGCCTGCCCGCCACTCTGCTTGGGCCTGAGGCTTTGGAGATCAGCCCTGGCCAAGGACATCAAGCTTTGGCTATCAGTGTAGTCTGGGAGGTGCCAGGACCGCCTGGCGCAGGGGCAGGTGCAGCCTGGGGATGAGGGGATGGAGGTGTAGCC
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ACCTGGGCCCCAGCCTGTCCCCTCCCGCCCCCTGCAGCCCCTCCTCCCACCGCCTGCAGCCCCTCCTCCCGCTCTGTCCAGCTTCGAACAGGCCACTCAGGCCTCCCAGCCTTACTTCCACCGTGGCCCAGGCCATGACCTTGGCCCCAACTCTGGGCCCTGCCCTATCTGTCCTTCCTGGTGGTCTGTCTCATTCACTGCCCTACCCAGGGGAACAGCACCTGGGGCTGGGGGGCAGATGGCCACGTGGTCCAATGGTCTCCTTCATGGCTGGGGTGAAGCTGGGTGGGGTCAAGGGAAGAAGAGGTGGATCCCAACGGGGGCAGGGCCAGCCAGGGCCTCCCATCTCCCCTCAGGCCAGGCCTCTGGAGATGGGGGTGGAACACCTTCCATGGGAGGCTGCCCCTGGGAACAGGCCTGTATACTCCCGCCTCGGCCCACCACACAGCCTGTCCCCAAACCTGTTGGGGTGGCGGTGCCCACCAGGAGGAGCTGGGGAGGACCAGCTGCTCTGAGGATGCTGCTTCCCTCCCAGGACTCCCCACTCCCTCCCTGGCCACCCACTCTTCCACCCAGCAAAGTGAGCCAAAAATTTGAAAAGCAACTTTTATTGAAGAATTTGGAGGGAAGGTTCCATATTATATTATAATAGTAAAAATACTAAAGTTGAATGTTGTAAAAAAACGCCGTGGTGCAGCGGCAGCGGCAGCGTCTGGCCAGGAGGCGTGGAGGGGCCCAGGGATGGCCACCCCCACAGGGAGTCAGGGAGGGCCTGGGGCGACAGCGGAAAGGTTAAGCGTCGAAAAGGTCAAGTGCTACCGTGGAGAGATCATCTGAGGGGGAGGCTCCCGGTGGGACAGTCACCAAGAACTGTGACACAGAAGGGGAAGGGGGAGGGCTTTCCTGTCACAAAGATTAAAAACCCCCAAAATGCATTTGAACAACATAATACACAATAACAAATTTAAACCTTGCTCCTCTGTCCCACTGGGTAAACCCTGGCCCATCCCCCATCCCTGGTCCCATCCCAGGGGCCCAGCCTCCGATGACGTCCTCAGAGACACGGCCTTAGTGCTGGGGGGCTGCTGTGTGCCTGCCACCCCCAGGAGAGGGTGCTGGCCAGCATACCATAGTGAGGTTGCATCTGGTGCCACCAGGTTGAACTGAGGCCCAGGGCCCCAGAGAGATGACAGATAGCTGGTGACAGACAGCCCAGGGCGGCTGGCTGACAGAGTGAGGGGACACATGGGCAGGACCTGCCCGGCCCCCCAATGCCACATTGCGCATAGCTGCAGAAGTCCTTAACATTTCCCTACGTGAATCGGATTGTTCTGAGGGCTGAGGCCACACCCGGAGAACAAACTGGATGAAATAAATTAAAACCCGCAGGATAGTTTTCTTCCCTACCCCGCTGCGGGGGAGGGTGCTGCCCACAGCACAAAAACGTCTTTCCATCTGGGCTCGAGAGGACAGCGTGGCTTCTCTCAAATGCACCCGAGAAATAAAAACCATTAAATACAGATCATGGCACGAGGCCGCCTCTCCATCCCTCCAAGCTATCGTCCAGCGCAGTCCACCGCCGCCTCAGGCCGTGCCGCTGGCCGAGTAGGAGAACTGGGGGAAGTGGGGCCTGCGCTCGCTGTCCACACACTCCATGCTGTCATCTGTGGGTGTAGACAGCTCAGACCCCGGTGCCCCACCTCCCTGCCACCTCCACCCACCCACAGCTCCAGTAGGAAGCCAACCTCTTAAAGCACGGCCAGCACGCTGCCATACTGCCAGGAAACTGAGACAGGGCCCCACAGATTGACACAGGGACCTGGGCCCTCAGAGCACTGCCTCCCACCCTGATCATTGGCACTCTCCAAAAGGAACCTTTTTAAATATTTAGATTTTAAAACATCTGAAGCCAAAAAAGCTGAACACTGCAGGCCTCTCTGAGTGTGGAGAGAAAAGGGAGTGGGCGGGGGCAGGCAGTGGCCCCTCACCTTGGTCAGGTGGTGTGATGGTGATCATCTGGGCCGTGAACTCCTCATCAAAATACCTGGGGTCAGTCTCCGACGTGACCTGGGGCTTGAAGGGTGGGCTGAGCTGCAGAGGTGGGCAGACGGGACAGTCATGAGCTTCGCTCCCCACTCCCAGCACACCCTCAAGTGTGCTCAAGACCTTCAAAGCACCTGGATCTCCAAGGGGTCTCCAGGCAGGACTGATGTCAGAGAGCAGCAAGCCACCAGCCCCCCACAGAGGCAGCTCTGGGAGGGAGGGACATGAGGGGTGCAGGAGCACGGAGACAACCCTCAACAGCTGAGACGCAAAGCTGCCCTCACAGCAGCCCCAGCAGGCGACAGGAGGTAGTGCAGCCCAGCTCTGAGAGACCCTCCCTGCTACCAGGAGGTGATAACTTTATTTTTCCTTTTTCTTTCTTGTTTTCTTATTTTTCTTATTGGTCTTCTTGTAAATTGGGAAAGAGGGAGACTGTGGAACAAGGTGCACAGGATGAGCCCACCCTGCCTCCATGGCTCAGGGACTACAGGACCACAGCCTGCTGGCATCTGGCTGCAGACAGGACTCTCAATGACCCAGGATGAAGGGTGACTATAAGGTGATGTGCACACGTGAGGAGCTGCCAGAGAGCCCCTCAGGTCCCACAGTCAAGGACCCCCTCAAGCACTGCCCCACCCCAGAGTCTGGGCTGGGCACCAGCATTGTCCATTGTCAATTAGCAAGGTCTCTGGTCAAGGCTGGGCAGAGGTTGAGCACTGCCCAGGCCCCCCATACCCTTGGAGGGCAGGGCAGGAGGGTGGCAGGCCTCAAGGCAGGAACGGGGACCAGGACCAGGGCACCCTGTGTTAATGGGAGAACAGGTGCCCAGCTGGGTCCCAGGGCTGCCCAGCCCGACCAGCTGCACACAGCCTAGGACAGGCATTCAGGGGAGGGGCAGGCTGGGAACGGGGCAGAAGCACACCTGGTGACAGGGCACCCAGCATCTCAGAGTGCAGGCTTCCGAACCCAGCTGGCAGACCCCATCAGCTGGGGTGATGGCCAGGGCTCCTAGGGTCCCTGAAAGATGAGCACCCAGGATGGCGACTCATGCAGAAAGAGCTGCCTCCCTCCAGGGCGGACTCCCCCATGTGCCAGAAAAGTAGGTGCTGTCCCTGTCCCTGCACAGCCAGAAATAGGGCTGGGCTCTCCTTGCGGCAGAAGGGATTGAGGTCAAACAGGAGGAACTCGTGGAGGCCAAGGGGCAGCACCCCTGGTCCACCACCAGCCAGCCTTCACTGCACAGCGTCAGGGAAGGGAACCCCAAGGCTGGCACTCAGAGTGTGACACACCTCCGAGGGGAGGAGGAAACTCAGAGTGTGACACACCTCCGAGGGGAGGAGGAAATGAGGACCAGGCCAGTTTCCTGGTGGAACCCGGCAGTGCCAGAGCCTCTGAGCACCAGGCGCTGAGGTTGGTGCAGCAAGGCCCTCCTTGTACCAGGACTGCAGCAGGCTCCTGAGGTGAGGGCGAGTGTGTGGGAAATCTGGCGAGCGTGCCACGTGCATGCGTGAGTGTGGATATGTGGGGAGCATGCGTGCGCGTGAATATGCGGGGAGCAGCCGCACCTTCTTCTCGTACACGTGCTGCCACACGATACCGGCAAAGAAGCGATGCTGCATGATCTCCTTGGCGTCCTCGGAGCCCCCGCCAAGCCTGCAGGCAGGAAACAAGGCCACAGTGTCGGTACCGCCACCTGCCCAGGCCCTGGGTTCAGGCCCCTTCCTCCTGTGATGTAGGGCCCGCCAGACAGGACGTTCCGGGGCCAGGGAGGGGAGCCGGTGGTGCAGCGTCCCTGAGCAGCTGTGGGTAGCAAAGCACCACAGAGCTCACGGCAGGGCAGGGGCTTCCTGAGTGGGTGGGTGCAGGCTGCAGGGTTGGGGACAGAGGCCCAACTGACCCCGGCCTGCCCGCCACTCTGCTTGGGCCTGAGGCTTTGGAGATCAGCCCTGGCCAAGGACATCAAGCTTTGGCTATCAGTGTAGTCTGGGAGGTGCCAGGACCGCCTGGCGCAGGGGCAGGTGCAGCCTGGGGATGAGGGGATGGAGGTGTAGCC
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Task1_train_20423
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A variant was discovered in gene AKT1 (AKT serine/threonine kinase 1), Chromosome 14. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Cowden syndrome 6
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GGTACCCACCCGTGTGCCTCTCCAGAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTCCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGT
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GGTACCCACCCGTGTGCCTCTCCAGAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCATGGCCGCCAGGTCTTGATGTACTCCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGT
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Task1_train_20424
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A variant found in Chromosome 14 affects AKT1 (AKT serine/threonine kinase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Proteus syndrome
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTCCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTTCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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Task1_train_20425
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With a mutation on Chromosome 14 in gene AKT1 (AKT serine/threonine kinase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cowden syndrome 6
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTCCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTTCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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Task1_train_20426
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An alteration has been detected in AKT1 (AKT serine/threonine kinase 1) on Chromosome 14. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Neoplasm
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTCCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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GAGAGCTCCCCACCTCGTTCCTTCCCAATGCCTCGGCCTGGCGAGCACACCCACAGCACCCACCCCCAGCAAGGCCCTGTCCCAGGTGCCACCAGGCACGCTGCTGGCACCCAGCCTCTCCCTGATCCCTGAAGCCCCCAGCCCCAACCGAGGAGACACTGGGGAGGGTGTGGGACAAGTCACAGTGAGTCTCCTGCATGGTTACGAGGCTGTCAGGAGACAGGGGTGTCTGCCTTCCTGGTCTCCCCTCACCCCTGGGGTGCCCTACTCTATCAGGCTGCCCTGCTACTGCTGGCTTGAGGCTGGAAGAGCCAGGGAAGGAGACCTCGGCTTACAGGAACCAGGTCCTGGTAAACCCCACCCCAACCCCAGCCCCTCAGCCTGGGGCTTTGCAGGGCAAGGCCTCTGCCCCTCCCAACTAGAAGCTTCAGGGCACGGTTTGCTGGCCACAGACCACCTAGCAGCCAGGGTGCCAGACTGACCCCACCTCCCCTTATACGTGCAGGCACCAAGGGTGGGAGTCCTTCCCTGCCCAGCCTGGGGACGGATTCCCTGCATTTAACCTCCTCCCAGACCCTGGACCAGAACCTGGGGGTCCAGCAAGTTCAAGGGAGTCGGAGGACCGCAGGCCTCAAAGAAAGGAGGGCAGAGCTACTTGGAGGGGAGGGGCCGATGCAGCACATGGGGATGGAACCTAAGGCCAGCCCCTGGTGGGCACCTCGCTCTGCACCACAGACCTGCCTGAGACAGATCCCAGAGGCCTGCAGTTACCCAGCCCTGCCACATACAGATGGCCCACAACTGGGCCCTAATTAGCCACTCAGTCACACCTGCATGCCCAACCCGTGTCTCTGGCTGCCACAGGCAGAGCTGGGCTCCAGGACAGGGACACAGAAAATGGGGACCATGCTGGGAGGCCCACGTGTCCCCAGCCTCCCACCTAGCAGGGCGCCTGGGTCTCCATGCCAGGGTTCCCGTCTGACATGGGTAGGGTCGCACCTGCCCCCGCTACAGGTAAGGAATAAAGCCACAGCAGGGCGGAGCAGGGAGCGTCACATGTCTCTCATCTCTGTGGGATGCTCCGGCCAAGGTCCCCCGCTGGCCTTTCTGCACCTGCCCCTCCATGGGCAAGGAGGCAGCCTCACAGAGGGGAAGCAAAGGCTCTGCCATGGGGTCTGGAGGCTGAGAGCCTGTGCAGGGAGAGGCACGAGCTCTTCCTCGAGTGATGGAGGCTTCAGAGCTGGAGACCCCAATGGACTCTTGCCCCCTCACCCAAGGGGTTTCCCAAGGAGAGGCCCTGATGGGCTCTATCTAACCCCCTTGGAGGAGGGGCCCCCGGGGCAGCTGTCCACCCTGAGACTGGGCTCTGCTGCCACTTGTCCGGACCCTCCAGCTTCCAGAGCATGGGCACCAGGGAACTGCTCCAGGGTCAGCCAGCCTTGGGACTCGGCCCAGAGACCCCCGCCCAGCCAGCCTCGGCCTCAGGACTCTGCCCAGAAACCCCTGCCCAGCCGGCCTCGGCCTCGGGACTCAGCCCAGAGACCCCGGCCCAGCCAGCCTCGGCCTCGGGACTCGGACCAGAGACCCCCGCCCAGCCAGCCTCAGGACTCAGCTCGGAGACCCCTGCCCAGCCAGCCTCGGCCTCGGGACTTGGACCAGAGACCCCTGCCCAGCCAGCCTCGGCCTTAGGACTCAGCCTGGAGACTCCCACCCAGCCAGCCTCAGCTTTGGGACTCAGCCCGGAGACCCCTGCCCAGCCAGCCTCGGGACTCGGCCCAGAGACCCCCACCCAGCCAGTGCTTGTTGCTTGCCAGCCCAGGACTTGGAGGCTCCAGGGGACCCCCATCGTGGGGCCTGGTGGGCAAAGAGGGCTCCAGCCAACCCCCCAAATCTGAATCCCGAGAGGCCAAGGGGATACTTACGCGCCACAGAGAAGTTGTTGAGGGGAGCCTCACGTTGGTCCACATCCTGCGGCCGCTCCTTGTAGCCAATGAAGGTGCCATCATTCTTGAGGAGGAAGTAGCGTGGCCGCCAGGTCTTGATGTACTTCCCTACAGACGTGCGGGTGGTGAGAGCCACGCACACTCTACCCGTCAGACCCTCGCCAGGCAGCCAGGCAGGAACTGGGTGTGCCAGGACAGATGTGCCTGGGATGCCTGAGTCCCAGGGGGCAGGCGCGGTACGGGAGCTGTTTCTTAGGGCCAGCGACAGAAACGGCCCTGGGTCAACGGGAAGGCAGACTCGCCCCACCACAGCGCCCCTCTCAGAAGAGCCACCCCGAGCTGTGTCTGAAAACGGGCTGGGCCAGCTGGACGCAGGGGATGGAGTACCATGGACAGGAGGCTGGGAAGAGGTCTGGGCCAGTCTGCACAGCCTTCCTGGAGGAGGCAGCCCTAAACCAGCCAGTCCCCAGCAGGCACCAGCAGCAGCTCGGGCCCCAGCTATGGCCACAGGGGCTGCGGGGCTGACAGCATTCCCCAATCAACCAGGGTCGGCCAGGTGGCGACAGCAGGTGACAGTGGCTTGTGTGGGCTGCCCAGCATGGCCGCCCCCCCCGCCCCGCCGCCACCCACCAGGAGGATGGAGCATGGCGTCCACAGTTAGAGGTCAGCACCACTCAGACTGAGGGCCGGGCTCGCGGGACAGGACTGCCCACTGCCGTGGGATCGCACTCCCTGTCTAGGGGCCTGGAGCACCGTCTTGGGGACTGCCGATGAAGCCAGACACGGAGGTGGCCCAGCCAGCTGGGCAGGGGCCCCAGGGCACAGAGGGTGCCAAGTCCCCAGGCTGAGACCCACACTCAGGCCCTGCCGCCGTCGGCCCTGCCGCGTCCCACCCGTGGGTCATTCAGGTACACGGGAACATTCTCCCTCAAGTTTTGCAGCATCAGCCGTACGCAGGCGTTCACACTTCAGAATCAGAGCAGCTGTCCTCGGTGATAGCCCAGCAAGTACCATTTTTCATACTGACACTCGGAAAAAAATGTTCCACTTACATTTTGCCAAGCAAGGAGTTTGAACAACAGGGAACTTACTAATTAGGCAACTGCTTCATCTGAGGGGTCACTGGGCAGGGGTTAGGGAGGGGGCCAGGGTAAGGGGTTGGGGTCCCTGAGCTCTGGGGCCTGGGTTTTCATGCCACACTGAGCCCCAGACAGGGACACCTGGAGGGATGTGGGGGACAAGCAATTGTCCCATCACCAGACCACCCACCACCCAGTCCTGCTGGGTCTTCGTGGTGAGCCCAGACGCGTCCAGCCCTCCCTGGTGCACAGGGAAGTCCCAGCAGGGCAGCAGCCCCAGGGGAGCTCAGAGGACATGGGTCATGGGCATCCCAGCAGGCATTCTACTTTCCAGGGAGCCACGGGGGAGTTCTTTAATAGAGGTGAGCCACCAAGGCTCGACACATGGCCACCCCCCGGCCAGGTGACCTCTCCCTCCTACCCCGGCCCCAGCTGCCCAATGCCCTTCCCACCAGCACCACGGGGCGTGGTCTCCACAAGACCAGCCCTCTCTCTGCCCAAGCCAGGGCTGCTGGGGGGATGCTGGTGGAGGGTGGGGACACCCCACCCAGCAGGGCCTGAGTGTGGGAAGAGGCTGTTGTCAGGTCTGGGGTGGACCAGGAAGGGGACAGCCACAGCCCACTCATAGCTGCCTGACACCTCTGGAGGACGGCCAACACCCAGTTGCAGGGAGGATGATCCAGGGCCCAGAATCTGCCCCTGTGCCCAAGAGCACTCATCAGGAGACCCCACCCACTCCGCAAGCCCTCCATGCCCCTGCCAGTGGGCTGCCGAGCAGGCGTGGTCCTGCCACCCTTGGGTGCCGGCTCCTGTCCCTGACCTGGGATCTCGCACACCCCCGAGTGTGCACATACACGCACATACGTGCCACGCAGCTCCACCCCGCCTCCCACGTCCCCTCCCCCAGCCACAGGGCCCCTGCAGGTGCAGCGGGCAGGCAGGGGCGCTCAGTGAGAGCAGAGCAGGCTCAGGGGGCTGCATGCAGCCCACCCCACCCGTCCCCCATCCTGGGCCACCCCGCTGCTCACGCCCACCCGCCTGCATGCCAGTCTGGAGCTGTCGGCCCCTGATGGA
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Task1_train_20427
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A variant found in Chromosome 14 affects ZBTB42 (zinc finger and BTB domain containing 42). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Lethal congenital contracture syndrome 6
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GCCCCCGCGCAGTGCCCTAAACCCCCCTCACACCCCAGCGCCCCTGCTGGCTGCGCGCGGGGCCCGGCCGGGTGGGGCGGACAGGGAAGGGGGGGCGAGGGTGACCTCAGCGGTTCCGCCGCTCCGGGAAGTCGCTCGGCCCGCCCCCTCCGGCCCCCGCCCCGAGTTTCGCTCTCTCTGGGGCGGGGCGAGCGGCGGGCGGCGCTGGGCCAGCCAAGTTGGAGCGCGCCCCGCCCGGCGCCCTCGCCGTCCCCGCGCCCTCCCCGCCGGGGCGCGCTGCCCGCAGCTCCACGCGCGCCAGGGCCGCCCTGGGGAGGGCGCGCGCGCGAGCGGCGACCGGAGAGGAGCTCGGGGCGGCGGAGGTGAGCGCTGGGGGTGGGCTCCCGGCTCTGCCCGCCCCGCCCGCCCGCCGGCCCTCTCCCCGCTCCCCGCGGCCGCGCTGCCATAAATGGGGCCGGCGGCGGCGGCATCTGGTGGGCCGGGCGGCAGCTGGAGGCGGCGCGGAGGCGTGGGGCGGGTGGCGGCGCAGCCACCCGGGCGTCGGGGACGCCGCGAGCGGGCGGCCGCCCGGGAGTGAAGTTCAGGAGCGCCCGGGCGGGGACGCGCGCAGGTTTGCGCGGCTCCGGCTCCTGCGCCTGAGTCCCGGGACCCGCCCCCGCGGCGGAGCTGCTACTGTTTACTTTCGATCGAGTTTTTCCTGCTCGGGGCAGGTGCCCGCGGCGGCTCTGGACGGGAGGTTGCGCGCGTCACTCCCGCGCCGCTCTTTCCGCGCTGCCTGCAGCCGGGAAGGGCGCTTCGTGGGCGCCTCCAGGCGCGCTGACGGGCGTCCCGTTTGTGCCCAGGTGATGACGGCGGCGGCATGGAGTTCCCTGAGCACGGCGGACGGCTGCTGGGCCGCCTGAGACAGCAGCGCGAGCTGGGCTTCCTATGCGACTGCACCGTGCTGGTGGGCGACGCGCGCTTCCCGGCCCACCGTGCCGTGCTGGCCGCGTGCAGCGTCTACTTCCATCTCTTCTACAGGGACCGGCCCGCGGGCAGTCGCGACACGGTGCGGCTCAACGGCGACATCGTCACGGCGCCCGCCTTCGGCCGCCTACTGGACTTCATGTACGAGGGCCGCCTGGACCTGCGCAGCCTGCCTGTGGAGGACGTCCTGGCAGCCGCCAGCTACCTGCACATGTATGACATCGTCAAGGTCTGCAAGGGCAGGCTCCAGGAGAAGGATCGAAGTCTGGACCCGGGGAACCCTGCCCCTGGGGCAGAACCTGCTCAGCCACCGTGCCCCTGGCCTGTCTGGACCGCGGACCTCTGCCCAGCTGCCCGAAAGGCCAAGCTCCCCCCGTTTGGGGTCAAGGCTGCCCTCCCTCCTCGAGCATCTGGGCCTCCTCCCTGCCAGGTCCCAGAAGAGTCAGACCAGGCCCTGGACCTGTCGTTGAAGTCTGGCCCAAGGCAGGAGCGGGTCCACCCACCGTGCGTCCTCCAGACACCCCTCTGCAGCCAGAGGCAGCCAGGGGCCCAGCCACTGGTGAAGGACGAACGGGACTCACTGTCCGAACAGGAGGAGAGCAGCAGCTCTAGGAGCCCCCACAGTCCCCCGAAGCCACCTCCTGTTCCTGCAGCCAAGGGCCTGGTGGTGGGCTTGCAGCCGCTGCCCCTCAGCGGAGAGGGCAGCCGGGAGCTGGAGCTTGGTGCAGGGCGACTGGCGAGTGAGGACGAGCTGGGGCCTGGTGGGCCCCTCTGCATCTGCCCGTTGTGCAGCAAGCTGTTTCCCAGCTCCCACGTGCTGCAGCTGCACCTCAGTGCCCACTTCCGTGAGCGAGACAGCACCCGGGCCCGGCTCTCACCCGACGGCGTGGCACCCACCTGCCCGCTCTGTGGGAAGACCTTCTCGTGCACATACACACTGAAGAGGCACGAGCGGACACACTCGGGTGAGAAGCCCTATACGTGTGTGCAGTGTGGCAAAAGTTTTCAGTACTCCCACAACCTGAGCCGGCACACCGTAGTGCACACTCGAGAGAAGCCGCATGCCTGCCGGTGGTGTGAGCGCCGTTTCACGCAGTCCGGGGACCTCTACCGCCACGTCCGCAAGTTTCACTGTGGCCTCGTCAAGTCCCTTCTGGTGTGATGCATCCCTGTGGGTCCTGAGGGTGGGGTGGAAGGGAAGGGATGGGCCCTCCCAGGTGGGACACAGCATGGGGTGTGAAGCCTGACCAGGTGGAGGTCCCTGCTTGGGCCAGATGGCTCCACCCTCCTGGCAGAGAGAATGCTGCCTCTTCCTGGAACTTGGCCTCAGACTCGGTAACTTGGGCAGCCTTCCTCCCACCTTGCCTCTCCTTTCCCCTCACTCTCCAACTCATTCCGGCCCCCAGGCTGTGCCCTGCCTAGGCTGTGACACTATCTTCCTCTCCCGTCCCCTCCAGCCAAGTTCTGAGGGGTGTCCAACCAGCACCTGGCTCTGCCCCCGTTTCTCCGTGTGAGATGGCACATCCATCTCCCGGCCCGGGACTTTCCTGACCACCTCTCTGGCAGGCTTGGGGAGGTCTTCATGAGCCTGGCCCCACGCTAGGTGAATTATTCACATGTCAGAAAAGTTGTTGGTGTGCGTCCCAATGGGGCGCTGGGAGGGAACAGGACACTCCTGGGGAGCGGCAGCAGGAACCCCTGCCAGGAAGGCCTGGGGCACAGTGAGTGCCAGCAGGGGCCATCTGGGCACAGCTGGTGTCTCGGGGTGGGGGGGGGGGTGCAGCCCCAGCAGGGATCCTAAGGCAGCAGGAGTAGAGCCAGCTAGAAGCTGAGTGGCTGTGGCATCATTGTCACTCGGGTGGGACGTGGGTCCATGAGAGCGTGCAATTATGACCACACTGTAACTTTGAGCAGAGAAAGTGGGAATTTGGAACTGGATTCTCTTTAGAGCCAGGAAGAGCCTCCTGAGGCGGCCAGATGTCTGCTGGTGGCCGCCCAGCCACATGCTTGTCTGCCTGAGTGCAGGTCTAGGAAGCCTCTGGGCATCCCCCAGGGTGGGGTCTGGGCCGCTGAGCTGTGTGCTGCTGCTGGGCCACCGTGGGCCTTACCTTGACGGTCACTCTGCCTGCTAGGGGGTTTCCCTGGAGCTGTGGGCATTTCCGTGCACTGACTGAGCAGAGGCAAGGGCTGCCCTGTCCGCCAGGGGCAGGGTTTGCGGGCCTTCCTTTCCCCACGGCGAGGCATGGGTGAAAGTGGCCATGGCGGCAGGGTTAGGGGCAGGTGAGGAGTGGGAGTCGCAGCACCCTAGGGGCCTCCATCCGCAGCCTTGGGAGACTGACGCTCCTCGAACATGAATAGAATGTGGAGACCACAACCCCCACACATGTCGTTGGTTCAGGTCGCCCTGCTTTGCCTGCCTAATGGAGCACATCTTGCTGCCAGAACCTCACTGGCCTCTGGGGGTCGGCAGGTGCAGAGCCACCTGGACGCCTGGAGACCACCTGGGATGTTTCCTCTGTGACTGGGAATGGCCTTGACAACAGAGTCCAGCCAAGTCTACGTTATTTTCTCATCTCCTGACAACACTGGATGTCATATTTATTAGTCAGCCTGGTCTGGAGTGAAAGACCGTCCCTAGCGCATCTCCCACGCGCCCTGGGCTCCTGGTGTGCTGGGTGCCAGCCTGGGAGCCCAGCGCTTCTGGGTGATGCCCCAGGGCTCAGAGGCCCTGGATGGCTTTGGTCTCGAGACAGCTGGGGGAGGGGCCCTGCTTCTGATTGTCCTGGGCCCCAGCCCCCACCTCTGCAAGGGATCGGTGTGATGTGCTCCATAATCGGGTGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGCATGCGTCTGGCACATGGCAAGGCCCAAGCCAACCCGGCACCCCGTAGATGGGCAGCTACACTGCCACCCAAGCACGGAGATGTGGCCGCGGCACTGGGTCCCCCAGTGGGTCCCATGGGGGAAGAACTTCCCTTTGCTGGGGTGGGCAGCCTGCCCTGAGCTATCAACACTGGATTTGTTGTCTTCTGCACAGCTACTGTGAAGATAACGTAAGGAGAAGTGGTCAGTTTTCATTTTATAACTGACACAGTT
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GCCCCCGCGCAGTGCCCTAAACCCCCCTCACACCCCAGCGCCCCTGCTGGCTGCGCGCGGGGCCCGGCCGGGTGGGGCGGACAGGGAAGGGGGGGCGAGGGTGACCTCAGCGGTTCCGCCGCTCCGGGAAGTCGCTCGGCCCGCCCCCTCCGGCCCCCGCCCCGAGTTTCGCTCTCTCTGGGGCGGGGCGAGCGGCGGGCGGCGCTGGGCCAGCCAAGTTGGAGCGCGCCCCGCCCGGCGCCCTCGCCGTCCCCGCGCCCTCCCCGCCGGGGCGCGCTGCCCGCAGCTCCACGCGCGCCAGGGCCGCCCTGGGGAGGGCGCGCGCGCGAGCGGCGACCGGAGAGGAGCTCGGGGCGGCGGAGGTGAGCGCTGGGGGTGGGCTCCCGGCTCTGCCCGCCCCGCCCGCCCGCCGGCCCTCTCCCCGCTCCCCGCGGCCGCGCTGCCATAAATGGGGCCGGCGGCGGCGGCATCTGGTGGGCCGGGCGGCAGCTGGAGGCGGCGCGGAGGCGTGGGGCGGGTGGCGGCGCAGCCACCCGGGCGTCGGGGACGCCGCGAGCGGGCGGCCGCCCGGGAGTGAAGTTCAGGAGCGCCCGGGCGGGGACGCGCGCAGGTTTGCGCGGCTCCGGCTCCTGCGCCTGAGTCCCGGGACCCGCCCCCGCGGCGGAGCTGCTACTGTTTACTTTCGATCGAGTTTTTCCTGCTCGGGGCAGGTGCCCGCGGCGGCTCTGGACGGGAGGTTGCGCGCGTCACTCCCGCGCCGCTCTTTCCGCGCTGCCTGCAGCCGGGAAGGGCGCTTCGTGGGCGCCTCCAGGCGCGCTGACGGGCGTCCCGTTTGTGCCCAGGTGATGACGGCGGCGGCATGGAGTTCCCTGAGCACGGCGGACGGCTGCTGGGCCGCCTGAGACAGCAGCGCGAGCTGGGCTTCCTATGCGACTGCACCGTGCTGGTGGGCGACGCGCGCTTCCCGGCCCACCGTGCCGTGCTGGCCGCGTGCAGCGTCTACTTCCATCTCTTCTACAGGGACCGGCCCGCGGGCAGTCGCGACACGGTGCGGCTCAACGGCGACATCGTCACGGCGCCCGCCTTCGGCCGCCTACTGGACTTCATGTACGAGGGCCGCCTGGACCTGCGCAGCCTGCCTGTGGAGGACGTCCTGGCAGCCGCCAGCTACCTGCACATGTATGACATCGTCAAGGTCTGCAAGGGCAGGCTCCAGGAGAAGGATCGAAGTCTGGACCCGGGGAACCCTGCCCCTGGGGCAGAACCTGCTCAGCCACCGTGCCCCTGGCCTGTCTGGACCGCGGACCTCTGCCCAGCTGCCCGAAAGGCCAAGCTCCCCCCGTTTGGGGTCAAGGCTGCCCTCCCTCCTCGAGCATCTGGGCCTCCTCCCTGCCAGGTCCCAGAAGAGTCAGACCAGGCCCTGGACCTGTCGTTGAAGTCTGGCCCAAGGCAGGAGCGGGTCCACCCACCGTGCGTCCTCCAGACACCCCTCTGCAGCCAGAGGCAGCCAGGGGCCCAGCCACTGGTGAAGGACGAACGGGACTCACTGTCCGAACAGGAGGAGAGCAGCAGCTCTAGGAGCCCCCACAGTCCCCCGAAGCCACCTCCTGTTCCTGCAGCCAAGGGCCTGGTGGTGGGCTTGCAGCCGCTGCCCCTCAGCGGAGAGGGCAGCCGGGAGCTGGAGCTTGGTGCAGGGCGACTGGCGAGTGAGGACGAGCTGGGGCCTGGTGGGCCCCTCTGCATCTGCCCGTTGTGCAGCAAGCTGTTTCCCAGCTCCCACGTGCTGCAGCTGCACCTCAGTGCCCACTTCCGTGAGCGAGACAGCACCCGGGCCCGGCTCTCACCCGACGGCGTGGCACCCACCTGCCCGCTCTGTGGGAAGACCTTCTCGTGCACATACACACTGAAGAGGCACGAGCGGACACACTCGGGTGAGAAGCCCTATACGTGTGTGCAGTGTGGCAAAAGTTTTCAGTACTCCCACAACCTGAGCCGGCACACCGTAGTGCACACTCGAGAGAAGCCGCATGCCTGCCGGTGGTGTGAGCACCGTTTCACGCAGTCCGGGGACCTCTACCGCCACGTCCGCAAGTTTCACTGTGGCCTCGTCAAGTCCCTTCTGGTGTGATGCATCCCTGTGGGTCCTGAGGGTGGGGTGGAAGGGAAGGGATGGGCCCTCCCAGGTGGGACACAGCATGGGGTGTGAAGCCTGACCAGGTGGAGGTCCCTGCTTGGGCCAGATGGCTCCACCCTCCTGGCAGAGAGAATGCTGCCTCTTCCTGGAACTTGGCCTCAGACTCGGTAACTTGGGCAGCCTTCCTCCCACCTTGCCTCTCCTTTCCCCTCACTCTCCAACTCATTCCGGCCCCCAGGCTGTGCCCTGCCTAGGCTGTGACACTATCTTCCTCTCCCGTCCCCTCCAGCCAAGTTCTGAGGGGTGTCCAACCAGCACCTGGCTCTGCCCCCGTTTCTCCGTGTGAGATGGCACATCCATCTCCCGGCCCGGGACTTTCCTGACCACCTCTCTGGCAGGCTTGGGGAGGTCTTCATGAGCCTGGCCCCACGCTAGGTGAATTATTCACATGTCAGAAAAGTTGTTGGTGTGCGTCCCAATGGGGCGCTGGGAGGGAACAGGACACTCCTGGGGAGCGGCAGCAGGAACCCCTGCCAGGAAGGCCTGGGGCACAGTGAGTGCCAGCAGGGGCCATCTGGGCACAGCTGGTGTCTCGGGGTGGGGGGGGGGGTGCAGCCCCAGCAGGGATCCTAAGGCAGCAGGAGTAGAGCCAGCTAGAAGCTGAGTGGCTGTGGCATCATTGTCACTCGGGTGGGACGTGGGTCCATGAGAGCGTGCAATTATGACCACACTGTAACTTTGAGCAGAGAAAGTGGGAATTTGGAACTGGATTCTCTTTAGAGCCAGGAAGAGCCTCCTGAGGCGGCCAGATGTCTGCTGGTGGCCGCCCAGCCACATGCTTGTCTGCCTGAGTGCAGGTCTAGGAAGCCTCTGGGCATCCCCCAGGGTGGGGTCTGGGCCGCTGAGCTGTGTGCTGCTGCTGGGCCACCGTGGGCCTTACCTTGACGGTCACTCTGCCTGCTAGGGGGTTTCCCTGGAGCTGTGGGCATTTCCGTGCACTGACTGAGCAGAGGCAAGGGCTGCCCTGTCCGCCAGGGGCAGGGTTTGCGGGCCTTCCTTTCCCCACGGCGAGGCATGGGTGAAAGTGGCCATGGCGGCAGGGTTAGGGGCAGGTGAGGAGTGGGAGTCGCAGCACCCTAGGGGCCTCCATCCGCAGCCTTGGGAGACTGACGCTCCTCGAACATGAATAGAATGTGGAGACCACAACCCCCACACATGTCGTTGGTTCAGGTCGCCCTGCTTTGCCTGCCTAATGGAGCACATCTTGCTGCCAGAACCTCACTGGCCTCTGGGGGTCGGCAGGTGCAGAGCCACCTGGACGCCTGGAGACCACCTGGGATGTTTCCTCTGTGACTGGGAATGGCCTTGACAACAGAGTCCAGCCAAGTCTACGTTATTTTCTCATCTCCTGACAACACTGGATGTCATATTTATTAGTCAGCCTGGTCTGGAGTGAAAGACCGTCCCTAGCGCATCTCCCACGCGCCCTGGGCTCCTGGTGTGCTGGGTGCCAGCCTGGGAGCCCAGCGCTTCTGGGTGATGCCCCAGGGCTCAGAGGCCCTGGATGGCTTTGGTCTCGAGACAGCTGGGGGAGGGGCCCTGCTTCTGATTGTCCTGGGCCCCAGCCCCCACCTCTGCAAGGGATCGGTGTGATGTGCTCCATAATCGGGTGGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATGCATGCGTCTGGCACATGGCAAGGCCCAAGCCAACCCGGCACCCCGTAGATGGGCAGCTACACTGCCACCCAAGCACGGAGATGTGGCCGCGGCACTGGGTCCCCCAGTGGGTCCCATGGGGGAAGAACTTCCCTTTGCTGGGGTGGGCAGCCTGCCCTGAGCTATCAACACTGGATTTGTTGTCTTCTGCACAGCTACTGTGAAGATAACGTAAGGAGAAGTGGTCAGTTTTCATTTTATAACTGACACAGTT
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Task1_train_20428
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With a mutation on Chromosome 14 in gene BRF1 (BRF1 general transcription factor IIIB subunit), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Cerebellar-facial-dental syndrome
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GCACATCGAACTCCTGGGTTCAAGTGATCCTCCGGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGCACACTCCCATGCCCAGCTAATTTTTTTATTTTTTGTAGAGATGGGGTCTCACTATGCTGACCAGGCTGGTCTTGAACTCTGCTCAAGCAGTCCTCCTGTATTTGCCTCCCAAAGTGCTGCGATTACAGGCATGAACCACCATGCTTGACCCACTCCCTAGTCTTAGACTGCTTTCTTCTGAATGTGTTCCAATACAAGATTCCTGGCTAGCACTGAGTCCCGGAGGGGTCCCCATGGTGAGGAATGGCTCCTTGGGGGAAAGCACCTGATCCCCAGAGAGCAGCTGTCAGTGGACGATGACCTCTGGACAGAGCAGCCTCTCAGAAGCCCCTCCCCGGGCAAGTGGGCCCAGGCCGCAGGTGCCAGGAGCCTTGGGGGCTCCGGCTGCCACATTCCCGGGACATGCACATTCCCTGGACTGTTGGCTCTGCCCCAAAAGTACTTCCAGAGTTCGACCAGGCTGGGCCAGGTCTCTCACCCTGGGTTCCTGCAACAGCCTCCCTACCTCCTGCCTCTGTTCTCAGGCCCTCCCGTGGCTCCTACTAACCCCCAAGTGAAAATACACAGTACAGAATACAAATCAAAAACAAGATTCTAAGCCCCACAACCAACCAAATGGATCCCTTCTCTTGGCCAAGGAGATTTCAAAGAAACCTGAAAAGCTAGTTCAGACCATGATGGGAAGTGGGGGCGGGGTCAGACACGCCTCATTATACCCGCTTATACCCCCTCCCTTTGGAGTTCAGGCACAGCTCATCAGCATTAACATCAAAACACAGATCTGATGATTGACCAGACTTTGTAGCAACAGATACCAAATTCCAACCTGACTCTAGTACAACATCAATGACAGGTAGCAGGCCCTGAAAGAAATAAAAATATTTTACCCCAAAATATCTTTGACATATTTTGAAATGGCCCCGCAAAGCTGTCTTTTGTAGGGGAAACTTACATTCTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCCGTGGTGCGATCTTGGCTCACTGCTACCTCCACTTCCCAGGTTCAAATGATTATCCTGCCTCAGCCTCCCATGGAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTGCATTTGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCCTGCCCGGTGGTAAACTTACATTCTGTAGATAATCCCCTTCCCTTTCCAGGTCTTTTTCTGATCCTGAAGAGATCTGCTGAGACTCTAGCACATTTTAAAGGTCTGAATAGGGGCCGGGCACAGTGGACTCACCATCTTTTGCCAGGCTGGCCAGGCCCCCCTTGGCCTTTGGCCGGCTGTTTTCTAGTTCAATCTCAATTGCATCCTGGTAACTGGATATTTCACCTGAAGTCATAAGTTAAAAGCAAAAAGTCAGCATAAAATCAATTTTCCCAACAAAACAGAAGCATTACATGGGAAGATTGGTTGGTTACCTTCAACCTCCTCCAGTTTTTTTGACAGGACTTGTTCAAGCTGAAAGGGAACAGGGCAAGAGGCTTCGTGAAGGGAGGCCCTGGTGCACAGCGCAGCCTCTGGGGTGCCGCGTGGGCCCCAGGGACCACAGGCTGCTAGAACTTAGGGGTACGCAGCGATGGAGGTGGAGCTATGGGCCTGTGTCCCCCATGGGAAGAGGTGGCACTTCCCAGAGTCTGTGTGAGGGGCATCCCGGAGCCTCGGGCTCTGGCTGGTCATAGCACTGAAGAGCGGCTATGAGGCTTTGGGATGGCACCAGCTCTGCTACAACCCCAGTCGGGGTGTGTGGCTTCCCCCCAAGGCTGGCAAGCCCAGCACAGACAGACACCAAAGCCGGCGCTACCTGCTTCATCCGCAGCTTCCTCTGCCCAGCTGTGTACGAGGGGGGGTCGCACTCCTCCTCCAGGTCGATCTTCATGAACTCATCAATGGTCAACTGACTGGTGGGGGTGTCTTCAAATTCCGTGAGCCTAAAATGGAGCCAGACATGGGAAATGGAGCTGGTGGCTCTGAAACCAGCTGTTTAAAACTGAGCTTTCGCCTGGGCGTGGCTCATGCCTGTGATCCCAGTGCTTTGGGAGCCCAAGGTGGGTGGATTGCTTGAGTCCAAGACTTTGAGACCAGCCTAGGCAACACAGTGAGACTCTGTCTCTACCCAAAAAAAAAAAAAAAAATTAGCCACGCATGGTGGTACACACCTGTAGTTTCTGCTACTTGGGAGGCTGAGGTCAGGGAGAATCGCTTGAGCCCAGGAGGTTGAGGCTGTAACGAGCTGTGATAGCGCCACTGGCCTCCAGCCTGGGCAGCAGAGTGAGATTTTGTCTCAAAAAATACATAAAAAATAAAAGGCCAGGTGCTGTGGCTCATGCCTGTAATCCCAGCATGTGGGAGGCCGAAGTGGTAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACACGGTGAAACCCCATCTCTATTAAAAATAACAAAAATTAGCTGGGCATGGTGGTGGGAGCCTGTAATCTCGGCTACTCGGGAGGCTGAGGCCGGAGAATCGCTTGAATCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGGCAAGAGCGAAAATCTGTGTCAAAAAAATGAATAAATAACAATAAAAACAAATACCTGAACTGTGCTTGTCGGATGTTCCTCCACGGGGCCTGGCACTCAGGCCTTGCCCCTCGGCGCCCAGGTCCCTTCTGGCGGCTTCTCCACCCCTACCCGATCCTGCCCGGACCTCTGCTCACTAGGAGAAAGGCCCACAGGCACCCTCATCCCTCACAAGAGAACCCCAATCCTAGGCGGAAGACTCAGAAGGCCTGAAGAGAGGAGGCTGGGCTAGAACCTCAGCACCTGGCAGTCGGGCAGGAAGGGGCCCTGCAGGCCTGTGAGCCATGGGGCTCAGTTCTTACGAACGCCTCTACACGCTACACAACCTTCAAACACGTTTCATCAAAGATTTTTTTTACAGAATCAATGGTCAGATGTTTAAAGTGAAATACTTTACAGCTGGTTTTGGAAAATGCCACAGGACACAATCTCAGCTGAAAAACAGCAGTCCTGTGTTTAAGATTTGTGATAAATGTCACAGCAGTTACAGGTGGCAGCAACTCCACTGTCACATTTACCTTGTCAAAGTCTATGAAACAGGGCTGCGGTGCAGGCGAGCTGTGAGGAACCCCGACAAATACCACCCAGCAAAGCCGGGGTGCAAAGCCCCACCCCTGCCTGCCTGGCTTGCTACGCCACTCATTTCACTGATGCGGGGACCTCTTATGGCACTCCGGCTTCTCACTGGGACAGGGGTCACCTGGGCTCTCAAAGTCCAGGACGGGCCACAGCAAAAAGGAGACGGACCAGGCTTCTGACGTCAAAGACAGCCTCATGCCTGTTTGTGACTTAGGGCAACTTTACACATCACCCTCCGCCTCAACTTAGAAACACGGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAGACCCCATCTCTACTAAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGGACCCGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCTATTGCACTCCAGCCTAAGCGACAGAGCAAGGCTGTTCCTCAAAAAAAAAAAAAAAATACAGGGATCGGAGGAGGAGGATGCCTCCGCAGGATAGGGCCGGCCCCAGAAGGACTAGCAGGGAACTCTCTGGAGGGAGGCGAGGCAGCCCACCAGCACGTCCAAGCCATAGTGTGACCGGGGCTGGGCTAGGTCCTGGCCAGCAGCCAGGCGGGGGACGG
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GCACATCGAACTCCTGGGTTCAAGTGATCCTCCGGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGTGCACACTCCCATGCCCAGCTAATTTTTTTATTTTTTGTAGAGATGGGGTCTCACTATGCTGACCAGGCTGGTCTTGAACTCTGCTCAAGCAGTCCTCCTGTATTTGCCTCCCAAAGTGCTGCGATTACAGGCATGAACCACCATGCTTGACCCACTCCCTAGTCTTAGACTGCTTTCTTCTGAATGTGTTCCAATACAAGATTCCTGGCTAGCACTGAGTCCCGGAGGGGTCCCCATGGTGAGGAATGGCTCCTTGGGGGAAAGCACCTGATCCCCAGAGAGCAGCTGTCAGTGGACGATGACCTCTGGACAGAGCAGCCTCTCAGAAGCCCCTCCCCGGGCAAGTGGGCCCAGGCCGCAGGTGCCAGGAGCCTTGGGGGCTCCGGCTGCCACATTCCCGGGACATGCACATTCCCTGGACTGTTGGCTCTGCCCCAAAAGTACTTCCAGAGTTCGACCAGGCTGGGCCAGGTCTCTCACCCTGGGTTCCTGCAACAGCCTCCCTACCTCCTGCCTCTGTTCTCAGGCCCTCCCGTGGCTCCTACTAACCCCCAAGTGAAAATACACAGTACAGAATACAAATCAAAAACAAGATTCTAAGCCCCACAACCAACCAAATGGATCCCTTCTCTTGGCCAAGGAGATTTCAAAGAAACCTGAAAAGCTAGTTCAGACCATGATGGGAAGTGGGGGCGGGGTCAGACACGCCTCATTATACCCGCTTATACCCCCTCCCTTTGGAGTTCAGGCACAGCTCATCAGCATTAACATCAAAACACAGATCTGATGATTGACCAGACTTTGTAGCAACAGATACCAAATTCCAACCTGACTCTAGTACAACATCAATGACAGGTAGCAGGCCCTGAAAGAAATAAAAATATTTTACCCCAAAATATCTTTGACATATTTTGAAATGGCCCCGCAAAGCTGTCTTTTGTAGGGGAAACTTACATTCTTTTTTTTTTTGTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCCGTGGTGCGATCTTGGCTCACTGCTACCTCCACTTCCCAGGTTCAAATGATTATCCTGCCTCAGCCTCCCATGGAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTGCATTTGTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCCTGCCCGGTGGTAAACTTACATTCTGTAGATAATCCCCTTCCCTTTCCAGGTCTTTTTCTGATCCTGAAGAGATCTGCTGAGACTCTAGCACATTTTAAAGGTCTGAATAGGGGCCGGGCACAGTGGACTCACCATCTTTTGCCAGGCTGGCCAGGCCCCCCTTGGCCTTTGGCCGGCTGTTTTCTAGTTCAATCTCAATTGCATCCTGGTAACTGGATATTTCACCTGAAGTCATAAGTTAAAAGCAAAAAGTCAGCATAAAATCAATTTTCCCAACAAAACAGAAGCATTACATGGGAAGATTGGTTGGTTACCTTCAACCTCCTCCAGTTTTTTTGACAGGACTTGTTCAAGCTGAAAGGGAACAGGGCAAGAGGCTTCGTGAAGGGAGGCCCTGGTGCACAGCGCAGCCTCTGGGGTGCCGCGTGGGCCCCAGGGACCACAGGCTGCTAGAACTTAGGGGTACGCAGCGATGGAGGTGGAGCTATGGGCCTGTGTCCCCCATGGGAAGAGGTGGCACTTCCCAGAGTCTGTGTGAGGGGCATCCCGGAGCCTCGGGCTCTGGCTGGTCATAGCACTGAAGAGCGGCTATGAGGCTTTGGGATGGCACCAGCTCTGCTACAACCCCAGTCGGGGTGTGTGGCTTCCCCCCAAGGCTGGCAAGCCCAGCACAGACAGACACCAAAGCCGGCGCTACCTGCTTCATCCGCAGCTTCCTCTGCCCAGCTGTGTACGAGTGGGGGTCGCACTCCTCCTCCAGGTCGATCTTCATGAACTCATCAATGGTCAACTGACTGGTGGGGGTGTCTTCAAATTCCGTGAGCCTAAAATGGAGCCAGACATGGGAAATGGAGCTGGTGGCTCTGAAACCAGCTGTTTAAAACTGAGCTTTCGCCTGGGCGTGGCTCATGCCTGTGATCCCAGTGCTTTGGGAGCCCAAGGTGGGTGGATTGCTTGAGTCCAAGACTTTGAGACCAGCCTAGGCAACACAGTGAGACTCTGTCTCTACCCAAAAAAAAAAAAAAAAATTAGCCACGCATGGTGGTACACACCTGTAGTTTCTGCTACTTGGGAGGCTGAGGTCAGGGAGAATCGCTTGAGCCCAGGAGGTTGAGGCTGTAACGAGCTGTGATAGCGCCACTGGCCTCCAGCCTGGGCAGCAGAGTGAGATTTTGTCTCAAAAAATACATAAAAAATAAAAGGCCAGGTGCTGTGGCTCATGCCTGTAATCCCAGCATGTGGGAGGCCGAAGTGGTAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCAGGCCAACACGGTGAAACCCCATCTCTATTAAAAATAACAAAAATTAGCTGGGCATGGTGGTGGGAGCCTGTAATCTCGGCTACTCGGGAGGCTGAGGCCGGAGAATCGCTTGAATCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGGCAAGAGCGAAAATCTGTGTCAAAAAAATGAATAAATAACAATAAAAACAAATACCTGAACTGTGCTTGTCGGATGTTCCTCCACGGGGCCTGGCACTCAGGCCTTGCCCCTCGGCGCCCAGGTCCCTTCTGGCGGCTTCTCCACCCCTACCCGATCCTGCCCGGACCTCTGCTCACTAGGAGAAAGGCCCACAGGCACCCTCATCCCTCACAAGAGAACCCCAATCCTAGGCGGAAGACTCAGAAGGCCTGAAGAGAGGAGGCTGGGCTAGAACCTCAGCACCTGGCAGTCGGGCAGGAAGGGGCCCTGCAGGCCTGTGAGCCATGGGGCTCAGTTCTTACGAACGCCTCTACACGCTACACAACCTTCAAACACGTTTCATCAAAGATTTTTTTTACAGAATCAATGGTCAGATGTTTAAAGTGAAATACTTTACAGCTGGTTTTGGAAAATGCCACAGGACACAATCTCAGCTGAAAAACAGCAGTCCTGTGTTTAAGATTTGTGATAAATGTCACAGCAGTTACAGGTGGCAGCAACTCCACTGTCACATTTACCTTGTCAAAGTCTATGAAACAGGGCTGCGGTGCAGGCGAGCTGTGAGGAACCCCGACAAATACCACCCAGCAAAGCCGGGGTGCAAAGCCCCACCCCTGCCTGCCTGGCTTGCTACGCCACTCATTTCACTGATGCGGGGACCTCTTATGGCACTCCGGCTTCTCACTGGGACAGGGGTCACCTGGGCTCTCAAAGTCCAGGACGGGCCACAGCAAAAAGGAGACGGACCAGGCTTCTGACGTCAAAGACAGCCTCATGCCTGTTTGTGACTTAGGGCAACTTTACACATCACCCTCCGCCTCAACTTAGAAACACGGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGTTCAAGACCAGCATGACCAACATGGTGAGACCCCATCTCTACTAAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGGACCCGGGAGGCAGAGGTTACAGTGAGCCGAGATCACGCTATTGCACTCCAGCCTAAGCGACAGAGCAAGGCTGTTCCTCAAAAAAAAAAAAAAAATACAGGGATCGGAGGAGGAGGATGCCTCCGCAGGATAGGGCCGGCCCCAGAAGGACTAGCAGGGAACTCTCTGGAGGGAGGCGAGGCAGCCCACCAGCACGTCCAAGCCATAGTGTGACCGGGGCTGGGCTAGGTCCTGGCCAGCAGCCAGGCGGGGGACGG
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Task1_train_20429
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A mutation found in BRF1 (BRF1 general transcription factor IIIB subunit) on Chromosome 14 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Cerebellar-facial-dental syndrome
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GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTCAGAAGCCGGGCCCCACGAGACCACGGGCAGGGATGCCCATGCAGCCGCACCCCAGAAGTAGGCAACCTGGGGTCAAGGCCGCTCTGCCCTGAGAGTTCTGCCCCTTATGCCAGGACACGCAGAGGCCAACGGGGCAGCCAGGAGGTCCTGGAGGGCTGAGGACCCCGGTGGGCCAGGCCAGAGTCAGCCCCGGGAGGCTGGAGGCAGCTCTCAGTGCTCTGCAAACATACGGCCCAGCCCACCAGCACTCAGGAGTCAGGAAAGTGTGAGGCCAGGACCCAGACCAGCATCCCCCAGGCAGGCAGGGCCCGCTGTACCTGCTCCGCAGAGGCCCGAGGGGCGCCGGCCTGTGTGCATCCAGTCCCGCTTCATCCTCTGTAGGAGCCTCAGGGCAGTCATGGACACCTCGTGGTTCTTCTCCCCGAATTCCAGCAGGTGCGCAAAGCGTGGAATATACAGGCACGGGTCTGCGGCAGACACAGCACCTCAGTGCCCACCTCCATGTGCCATGGCACGTGCACAGGCGGCCCACGCAGCCCAGGGGTGGGGCAACCTGCACTTGTCTTTCCAGGCCCCCAGGCCCCCCACCAGTTCCCCTCCCCTGGACAAAGCCTCTCTGACCCTCAGCTAGGGCAGCCATCGCACCGAACCCAGGAGAGCCACTGGCCACCTGCTGCCAGCCAGCCTGCTGCAGACACGCTAGGGCCAGGCAGCGTGCTCCTACTGCATGGCCGCCCTGCTCAGGACACAGAGGGGCGCACACCCAGCAGCCTTCCCTCCAGACCATGCAGACAGCACCACACGCAACAACGGTCCGGGGACTCTTAGAGCAAGACAGGCGTGGGCTGGGTACACAAGTCGCCAGCCGGCCGGCATCAGCTGACACTCATGGGTGAGAGGAGGGCCCACTTCTGGCATCTCTACCAGCATGGCGGTGCCACGGGGGCTGTGTGTGCACACTGAGGCCTGGCGCTGTGCACCTCTGCCAGCACGGCACAGTGCCACGGGGGAGTGCCTGGAGCAGGACAGGCTGGGCGCTGCACAGCCTGGGCCCTGAGCGACTGCATGGACCTAAGCAGCGCTCCCCTATGCCGAGCATGAGGCCGGGATGTGACTCCACAGGGCCCTGCTGTGCCCCACCAGGCTCAGGTGGCTATGACTTGCATCCATTCATACTCACGACGCAGCCCCCCTTTCCAGCTGAGGGTGTCCATAACACGAAGGATAAATGCTTGAGGTGAAAGATGTCCCATTTACCCTGATGTGACTGTTACACACTGCATGAACGCATCAAGACACCTCACATGCCCCAAAATACACGCACCCGCTGTGCACCCACAACTAAAGATAAAAACCAATGATTTGTGGTGATTTGGCTGCTAAAATAGATATTATTTGGAGAAAAAAATTAGATAATTTAAAACAATTGCTAAGATTTTTAATGATTTTCAATAAGATACAATCATCGCAGCTAGAAATAAAGAGAACGATAAAAAATATGCTCATAGGCTGGGCGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGGGCCGAGGCGGGCGGATCACCTGAGGTCCGCAGTTCGAGACCGGCCTGACCAACATGGAGAAACCCCATCTTTACTAAAAATACAAAATTTGCAGGGCGTGGTGGTGCATGCCTCTAGTCCCAGCTACTCAAGAGGCTGAGGCTGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTTTGGTGAGCTGAGATCGCAGCATTGCACTCCAGCCTGGGCAACAAGAGCGAAGTTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACGCTTATAGACTGGGCAATACAGAGACGAAGTCTATACAAAAGTTTTTGAAAAAAATTTGGCCGGGGCCAGGTGCTGCGGCTTACGCCTGTAATCCCAACACTTTGGGAGATTAGGGCGGGTGGATGACCTGAGCTCAGGAGATCGAGACCACCCTGGGCAACATGGTGAAACCCCGTCTCAACTAAAATACAAAAAATGAGCTGGGCGTGGTGGTGCACGCCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAATTAGTGGGTGTGAGGCTGGGTGTGGTGGCTCACATCTGTAATCCCAGAATTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTTAGGAGTTCGAGACCACCCTGGACACCATAGTGAAACCCAGTCTTTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTATAGTCCCAGATA
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GCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTCAGAAGCCGGGCCCCACGAGACCACGGGCAGGGATGCCCATGCAGCCGCACCCCAGAAGTAGGCAACCTGGGGTCAAGGCCGCTCTGCCCTGAGAGTTCTGCCCCTTATGCCAGGACACGCAGAGGCCAACGGGGCAGCCAGGAGGTCCTGGAGGGCTGAGGACCCCGGTGGGCCAGGCCAGAGTCAGCCCCGGGAGGCTGGAGGCAGCTCTCAGTGCTCTGCAAACATACGGCCCAGCCCACCAGCACTCAGGAGTCAGGAAAGTGTGAGGCCAGGACCCAGACCAGCATCCCCCAGGCAGGCAGGGCCCGCTGTACCTGCTCCGCAGAGGCCCGAGGGGCGCCAGCCTGTGTGCATCCAGTCCCGCTTCATCCTCTGTAGGAGCCTCAGGGCAGTCATGGACACCTCGTGGTTCTTCTCCCCGAATTCCAGCAGGTGCGCAAAGCGTGGAATATACAGGCACGGGTCTGCGGCAGACACAGCACCTCAGTGCCCACCTCCATGTGCCATGGCACGTGCACAGGCGGCCCACGCAGCCCAGGGGTGGGGCAACCTGCACTTGTCTTTCCAGGCCCCCAGGCCCCCCACCAGTTCCCCTCCCCTGGACAAAGCCTCTCTGACCCTCAGCTAGGGCAGCCATCGCACCGAACCCAGGAGAGCCACTGGCCACCTGCTGCCAGCCAGCCTGCTGCAGACACGCTAGGGCCAGGCAGCGTGCTCCTACTGCATGGCCGCCCTGCTCAGGACACAGAGGGGCGCACACCCAGCAGCCTTCCCTCCAGACCATGCAGACAGCACCACACGCAACAACGGTCCGGGGACTCTTAGAGCAAGACAGGCGTGGGCTGGGTACACAAGTCGCCAGCCGGCCGGCATCAGCTGACACTCATGGGTGAGAGGAGGGCCCACTTCTGGCATCTCTACCAGCATGGCGGTGCCACGGGGGCTGTGTGTGCACACTGAGGCCTGGCGCTGTGCACCTCTGCCAGCACGGCACAGTGCCACGGGGGAGTGCCTGGAGCAGGACAGGCTGGGCGCTGCACAGCCTGGGCCCTGAGCGACTGCATGGACCTAAGCAGCGCTCCCCTATGCCGAGCATGAGGCCGGGATGTGACTCCACAGGGCCCTGCTGTGCCCCACCAGGCTCAGGTGGCTATGACTTGCATCCATTCATACTCACGACGCAGCCCCCCTTTCCAGCTGAGGGTGTCCATAACACGAAGGATAAATGCTTGAGGTGAAAGATGTCCCATTTACCCTGATGTGACTGTTACACACTGCATGAACGCATCAAGACACCTCACATGCCCCAAAATACACGCACCCGCTGTGCACCCACAACTAAAGATAAAAACCAATGATTTGTGGTGATTTGGCTGCTAAAATAGATATTATTTGGAGAAAAAAATTAGATAATTTAAAACAATTGCTAAGATTTTTAATGATTTTCAATAAGATACAATCATCGCAGCTAGAAATAAAGAGAACGATAAAAAATATGCTCATAGGCTGGGCGCGGTGGCTCACACCTCTAATCCCAGCACTTTGGGGGCCGAGGCGGGCGGATCACCTGAGGTCCGCAGTTCGAGACCGGCCTGACCAACATGGAGAAACCCCATCTTTACTAAAAATACAAAATTTGCAGGGCGTGGTGGTGCATGCCTCTAGTCCCAGCTACTCAAGAGGCTGAGGCTGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTTTGGTGAGCTGAGATCGCAGCATTGCACTCCAGCCTGGGCAACAAGAGCGAAGTTCTGACTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACGCTTATAGACTGGGCAATACAGAGACGAAGTCTATACAAAAGTTTTTGAAAAAAATTTGGCCGGGGCCAGGTGCTGCGGCTTACGCCTGTAATCCCAACACTTTGGGAGATTAGGGCGGGTGGATGACCTGAGCTCAGGAGATCGAGACCACCCTGGGCAACATGGTGAAACCCCGTCTCAACTAAAATACAAAAAATGAGCTGGGCGTGGTGGTGCACGCCTGTAATCCCACCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTAGGAGGCGGAGATTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCTGTCTCAAAAAACAAACAAACAAACAAACAAAAAAATTAGTGGGTGTGAGGCTGGGTGTGGTGGCTCACATCTGTAATCCCAGAATTTTGGGAGGCCAAGGCAGGTGGATTGCCTGAGCTTAGGAGTTCGAGACCACCCTGGACACCATAGTGAAACCCAGTCTTTACTAAAATACAAAAAAAAAAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTATAGTCCCAGATA
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Task1_train_20430
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A variant was discovered in gene LOC130056709, NIPA1 (ATAC-STARR-seq lymphoblastoid silent region 6259| NIPA magnesium transporter 1), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Hereditary spastic paraplegia 6
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CACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACTGCAACCTCCACCTCAAGCCATCCTCCCACCTCTGCCTCCAGAGTATCTGGGGTTGGAGGTAAAAGCCACCACGCCCCGCTAATTAATTTTTTTCTTTTTTTGGTAGAGACGGGTCTCGCTACGTTGCCCAGGCTGGTCTTGAACGTCTGAGCTCAAGCGAGCCTCCCACCTCGGTCCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCTTGTAGCATCGTTTATAGACAACAAAACCTGGCAGCAACCGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGTAGAGCGGACGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTTGCCAAGATGGTGAAACCGCGTCTCTACTCAAAATACAAAAATTAACCCGGGCGTGGTGGCGGACGCCTGTAATTCTAGATACTCGGAGGCTGAGGCCGAGAATCGCTTGAATCCGGGAGGCGGAAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAACCAACCTGGTAGCTACCTAACACCCAACAATGGCTGAATGGTTAGACAAATTATTATACTGTCATTAGAATAATCATATTTATGTACCGATACAGAAACTGATATATATTAAATAAAAAGGAAATTTCGTATATTGTAATTGGAAACATGTAAAAGTATGTATACATTATGGGAAAACACCTAAAATACTAATAATTAGGTGAGGGTTGTGGAATTGAGTCACTTTAAAAAATATTTTTTTCCAAAAAAAATAAAATAACTTTTTCCTATTTTTCAAGCTTGTAATTTTGTTGTTGTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTCGAGTGCAGTTGTGTGATCTCCGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCCTTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCCTCCGCCACGACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTGTTGTAGTTTATTAAAACGAGGAAACTAGACTATGGGATCACAAGCCCAGAGCCCCATGTAGCTGACTCTAGCGCCAAGGGCGGAAGAGAAACGCCCAGCGCCAGGGCTCTCCTTCGATCTCTGCAGCGGCGCGCCGGGCTTCGCGCTCCGGTGAGTTGGGCCGGCCTCCGCTGGAGGCTCTTCGGGGACCGCTGCCCGCCGGTGCGTCCTGCCGCGCTCCGCTGCCCGGATATTGCAGAGGACACCACTCAGAAAGTATGCGTGTTTCTCCGCGCTGGAAACTTAACCAGGAGTCCTGCATTTCCATTTGCGAAATCCGGGAACCCCCGCCCCACCCAGCGCCTCACCGGCCCCTCACTGCCGCCGCGTCCGGCGCCACTGCTGTCCCCGCAGCCTAAGGCGCCGGTCCCTGGCACCCCCGTCCCGCCCCCGCCCCTCTTCCTGCTCCTCCCCCACCCGTCCCCCTCCCCTCCCCCGCCCGCGCCTCCCGGTCACCCCCCATCCCGCCCCGCGGGGCGCGGCGCGCAGGCGCAGGCTCGGAGGGCGGGCGCGGGCGGAATGGGGACTGCAGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGGAGGGGGCGCGTAGCCCGAGCCCCGCCGCCGTGTCGCTCGGCCTGGGCGTGGCCGTCGTGTCGAGCCTGGTGAACGGGTCCACGTTCGTGCTACAGAAGAAGGGCATCGTGCGTGCCAAGCGGCGAGGTAGGGCGGGCGGCAGGCGGCAGGCGGCGGGCGGGTGGGGGAGGCGGGCGGCGGAGAAGGCGGTCGCAGGTGGGGGCGCCCGGGTCGGGGCAGGGGACGGGGTCGGGGCCCGGGCCCAGGTTGGGGGAAGGCTGCGCGGGCGGGTGCTCCCCGCGGCGTGCCCAGGCTGCCGCCGCGTCCTGGCGCTCGGGCCCGGGAGCGGCCCAGGAATCACAGGTGCGTCCTGAGCGTCCGGCGCTTCGCCGACGCCACGGCTTTTCTCCGTTCTCAGCGGCTGGAGCGGCTTGCTTTGGTGTGCGGGCTTCCCCGGCTGACTTTTTCCCTCGGTCCAAGACCTGCCCCGCGCCGCCCGGCAGCCCTCGCCGTGGCCCGCAACCCGCGGCCGGGAGCCTCCTGCGGACGCGGTGCTGGGGTGCTCGAGCCCAGCGCCCGCCTGGAAGCGCCGCTTCAGCCGATGCGCGGCCCGCTCCTAGGGTACGCTCGGTAGAGCAAGACCTGGGATTTCCAGTCCCCCGCAGGGGCCTCGCTGGTGCAAAAGGAAGACCCGGGCGGGCTCTCAGGGCTGTGCGTTCCTGGGGTGCTCTTACGGAGCCCGCTGCGCCTTAGACCTGCACCAAATGAATACAAGTGATCTTCAGTTTGGAGAACACGCGCGGCAGATCCAAAACCAAGCCCTGGACGGGCCAAGGCCACTTCCCAGGTGGATGTGCCGCAGCACCGCACTCCGTAGTGCTCTGCGGGGTAGAGCTCTCTGTCAGTGTCGTTTGTGCTGGGAGGCCCCGGACGGGACCGGTTTGCCAATGCAGGATATGGCAGGCTGTGAAACAGTCCGTTTCCATTGCTTCCAGAGGGACTGAGAAAGTCTTGTGGTTCTTGGCCATACTCTTAGAAGAAGAATATTAAGAGCTCTCTGGGAAGGATGTGGCCCCCGACTCTTGGGTTGTGAGAGAAAGTGAACTCGTAATTTACATGGCGGAATGCAGGTGAAACTTTCTCTGAGTGAGCCAGGCGTTGGCTTCAGAGAAGAGATAAAGGGCCCGACAGTCTCGAATGAAAATATAAAATCATGGATAATTTAAGGAATTTAGCTTTAAAGTGAAAGCATAGTGGTCTCCCATACAATTTAAATAGAATTAAATAAAACCAAGTATGATTTTCCAAGGATGCAGATGTGTCTGTCTCTAAGGCACACAGATACACACACACCGCAGCCACACTTCAGGGAGCATCTGTCCGTGTGACAGGCCCCAGGACTGGGTGAGATGGTCAACGCGCGTGACCTTATAAATAGGATGGCCTGAGAAAGCACCTCACCTCCCCAATCCACGGCCCTAGCGTAAGCATGAGGAAAACACCACACAAACCGGAGTAGAAGAACATCTTGCGGCCGGGCGCGGTGGCTGGTGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCACAAGGTCAGGAGATCTAGACCATCCTGGCTAACACGACGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCCGGTGTGGTGGCACGCACCTGTAGTACCAGCTACTCGAGAGGCTGAGGCAGGAGAGTCTCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGGGATCCGCCACTGCACTCAGCCTGGGCGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCTTGCAGTACACCTGACCAGTCCTCTGTGAAGGTCATGGAATCTGAAAGCACGTCACAACCAGGAGGAGCCTAAGAACACGTGAACACCAGATGTAAGACATTAGGGAAAAACGAAGGAAAGCTGAATACCAGCTTTAGTTAGTTTTCTAAAAAGTTGAGGAAAACTGTGTTATTTCAACCCAGGTCATGTGGCTCAAAGGAATTGGTGAATAGGAAAATAAACAAGCGAGTAGCCTTTTAAAAAAAACATGATAAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTT
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CACCTGACCTCCGGATCCGTCCGCCTCCGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCACCTCCCCGGCCCTATTTTATATTTCTTCACAAAATAATAATGCTGTATGCAAAGCTGCCAAAAGGTTTATACTTTTCGTTTGTTTTTGAGACAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATAACAGCTCACTGCAACCTCCACCTCAAGCCATCCTCCCACCTCTGCCTCCAGAGTATCTGGGGTTGGAGGTAAAAGCCACCACGCCCCGCTAATTAATTTTTTTCTTTTTTTGGTAGAGACGGGTCTCGCTACGTTGCCCAGGCTGGTCTTGAACGTCTGAGCTCAAGCGAGCCTCCCACCTCGGTCCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCAGCTTGTAGCATCGTTTATAGACAACAAAACCTGGCAGCAACCGGCCAGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGTAGAGCGGACGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTTGCCAAGATGGTGAAACCGCGTCTCTACTCAAAATACAAAAATTAACCCGGGCGTGGTGGCGGACGCCTGTAATTCTAGATACTCGGAGGCTGAGGCCGAGAATCGCTTGAATCCGGGAGGCGGAAGGTTGCAGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAACAAACCAACCTGGTAGCTACCTAACACCCAACAATGGCTGAATGGTTAGACAAATTATTATACTGTCATTAGAATAATCATATTTATGTACCGATACAGAAACTGATATATATTAAATAAAAAGGAAATTTCGTATATTGTAATTGGAAACATGTAAAAGTATGTATACATTATGGGAAAACACCTAAAATACTAATAATTAGGTGAGGGTTGTGGAATTGAGTCACTTTAAAAAATATTTTTTTCCAAAAAAAATAAAATAACTTTTTCCTATTTTTCAAGCTTGTAATTTTGTTGTTGTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTCGAGTGCAGTTGTGTGATCTCCGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCCTTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGCCTCCGCCACGACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTGTTGTAGTTTATTAAAACGAGGAAACTAGACTATGGGATCACAAGCCCAGAGCCCCATGTAGCTGACTCTAGCGCCAAGGGCGGAAGAGAAACGCCCAGCGCCAGGGCTCTCCTTCGATCTCTGCAGCGGCGCGCCGGGCTTCGCGCTCCGGTGAGTTGGGCCGGCCTCCGCTGGAGGCTCTTCGGGGACCGCTGCCCGCCGGTGCGTCCTGCCGCGCTCCGCTGCCCGGATATTGCAGAGGACACCACTCAGAAAGTATGCGTGTTTCTCCGCGCTGGAAACTTAACCAGGAGTCCTGCATTTCCATTTGCGAAATCCGGGAACCCCCGCCCCACCCAGCGCCTCACCGGCCCCTCACTGCCGCCGCGTCCGGCGCCACTGCTGTCCCCGCAGCCTAAGGCGCCGGTCCCTGGCACCCCCGTCCCGCCCCCGCCCCTCTTCCTGCTCCTCCCCCACCCGTCCCCCTCCCCTCCCCCGCCCGCGCCTCCCGGTCACCCCCCATCCCGCCCCGCGGGGCGCGGCGCGCAGGCGCAGGCTCGGAGGGCGGGCGCGGGCGGAATGGGGACTGCAGCTGCGGCAGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGGAGGGGGCGCGTAGCCCGAGCCCCGCCGCCGTGTCGCTCGGCCTGGGCGTGGCCGTCGTGTCGAGCCTGGTGAACGGGTCCAGGTTCGTGCTACAGAAGAAGGGCATCGTGCGTGCCAAGCGGCGAGGTAGGGCGGGCGGCAGGCGGCAGGCGGCGGGCGGGTGGGGGAGGCGGGCGGCGGAGAAGGCGGTCGCAGGTGGGGGCGCCCGGGTCGGGGCAGGGGACGGGGTCGGGGCCCGGGCCCAGGTTGGGGGAAGGCTGCGCGGGCGGGTGCTCCCCGCGGCGTGCCCAGGCTGCCGCCGCGTCCTGGCGCTCGGGCCCGGGAGCGGCCCAGGAATCACAGGTGCGTCCTGAGCGTCCGGCGCTTCGCCGACGCCACGGCTTTTCTCCGTTCTCAGCGGCTGGAGCGGCTTGCTTTGGTGTGCGGGCTTCCCCGGCTGACTTTTTCCCTCGGTCCAAGACCTGCCCCGCGCCGCCCGGCAGCCCTCGCCGTGGCCCGCAACCCGCGGCCGGGAGCCTCCTGCGGACGCGGTGCTGGGGTGCTCGAGCCCAGCGCCCGCCTGGAAGCGCCGCTTCAGCCGATGCGCGGCCCGCTCCTAGGGTACGCTCGGTAGAGCAAGACCTGGGATTTCCAGTCCCCCGCAGGGGCCTCGCTGGTGCAAAAGGAAGACCCGGGCGGGCTCTCAGGGCTGTGCGTTCCTGGGGTGCTCTTACGGAGCCCGCTGCGCCTTAGACCTGCACCAAATGAATACAAGTGATCTTCAGTTTGGAGAACACGCGCGGCAGATCCAAAACCAAGCCCTGGACGGGCCAAGGCCACTTCCCAGGTGGATGTGCCGCAGCACCGCACTCCGTAGTGCTCTGCGGGGTAGAGCTCTCTGTCAGTGTCGTTTGTGCTGGGAGGCCCCGGACGGGACCGGTTTGCCAATGCAGGATATGGCAGGCTGTGAAACAGTCCGTTTCCATTGCTTCCAGAGGGACTGAGAAAGTCTTGTGGTTCTTGGCCATACTCTTAGAAGAAGAATATTAAGAGCTCTCTGGGAAGGATGTGGCCCCCGACTCTTGGGTTGTGAGAGAAAGTGAACTCGTAATTTACATGGCGGAATGCAGGTGAAACTTTCTCTGAGTGAGCCAGGCGTTGGCTTCAGAGAAGAGATAAAGGGCCCGACAGTCTCGAATGAAAATATAAAATCATGGATAATTTAAGGAATTTAGCTTTAAAGTGAAAGCATAGTGGTCTCCCATACAATTTAAATAGAATTAAATAAAACCAAGTATGATTTTCCAAGGATGCAGATGTGTCTGTCTCTAAGGCACACAGATACACACACACCGCAGCCACACTTCAGGGAGCATCTGTCCGTGTGACAGGCCCCAGGACTGGGTGAGATGGTCAACGCGCGTGACCTTATAAATAGGATGGCCTGAGAAAGCACCTCACCTCCCCAATCCACGGCCCTAGCGTAAGCATGAGGAAAACACCACACAAACCGGAGTAGAAGAACATCTTGCGGCCGGGCGCGGTGGCTGGTGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCGGGCGGGTCACAAGGTCAGGAGATCTAGACCATCCTGGCTAACACGACGAAACCCCATCTCTACTAAAAATACAAAAAATTATCCCGGTGTGGTGGCACGCACCTGTAGTACCAGCTACTCGAGAGGCTGAGGCAGGAGAGTCTCTTGAACCCGGGAGACAGAGGTTGCAGTGAGCCGGGATCCGCCACTGCACTCAGCCTGGGCGGCAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAATCTTGCAGTACACCTGACCAGTCCTCTGTGAAGGTCATGGAATCTGAAAGCACGTCACAACCAGGAGGAGCCTAAGAACACGTGAACACCAGATGTAAGACATTAGGGAAAAACGAAGGAAAGCTGAATACCAGCTTTAGTTAGTTTTCTAAAAAGTTGAGGAAAACTGTGTTATTTCAACCCAGGTCATGTGGCTCAAAGGAATTGGTGAATAGGAAAATAAACAAGCGAGTAGCCTTTTAAAAAAAACATGATAAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTT
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Task1_train_20431
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A variant found in Chromosome 15 affects NIPA1 (NIPA magnesium transporter 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; Hereditary spastic paraplegia 6
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCGGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCAGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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Task1_train_20432
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Given this context: Chromosome 15, gene NIPA1 (NIPA magnesium transporter 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Hereditary spastic paraplegia
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCGGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCAGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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Task1_train_20433
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This variant affects the gene NIPA1 (NIPA magnesium transporter 1) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Hereditary spastic paraplegia 6
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCGGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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GAGAGGATGCCGGCAAGTCTCAGGTCAAATGTCAGAGCATCAGGTGAGTGTAAGGATGTGGTTCCCGCATGGCTGAAAGAAGAGTCGTATCAGAAGAGTTATAAATAATGAAAATTGAGTGACTTGTTTAAGCAGGAAGTCAAACCCTATGATAATAAAATTCTTATATAAATGGACTACAGTAAATGCATGAGAGAGTTGGACTTTAAAGACTCAAACCCTTTTGAGATAAAAATAAAACTCCATCAAAGGAATATCTTTGTGGTAGCTTGTTGGGTGAAAGAAAACTGATGTATAAAGATCTCATTTCCTTATTTGGGTCAGCCTGTGTTGGTTGCAAAAAATATCTTGACTTTGCCACTTTCGGTGGTCTCTAATGCTGCCATTTATAGATGAAAGATTCTCTTTAGGGTGAATAAACAGTATGACATTCATTCTTTTCAATTTTAGTTTTCATGTCAAAAGTTTCTCGCTTGTAAACCTCTTCCTGATATACGTAGCTGGTAAACCCACTTTTCTGACATTTTTTATCTCATTTTTTATAGGTACTTCCTATTTAACAGACATTGTGTGGTGGGCTGGCACAATCGCAAGTAAGTAGCCTGTGTGGCGAAGTCTGGTCTTTTCCTTTCTTAGAATCCATCACTGGTCTGGGCAGGGCTGGAGTGGCTGGGCTAGGGTGGCTCTGTTCTTTGGAAGAGGGTGTCGCGTGGCCTCTCCCCAGGCCCTAAGCGTGCCTTTCAGTTCGGATGTCCCTGCCTCCCCAGGGCACTCTCCCTGCTCCCCTTCCTCCCAGGATGAGAGTGCAGAAGGACAAGTTAGGAGCTGGTGGAGGCCCCTGCTGCCCACGATTAGCCGTGAATTCAGTCCAGGCTGATCTGTCCTGGGCCCGAAGAAATTAAAACAGCTCCTGCTTACTCATGTAGTCGGGCTGTTGGCATTTGGTGAAATTCCATGTTAGGCTGCCTTGTTTTTCTCAGCACAGTTGGTTTAACAGAGAATTTCATGAGTCAAAGATCAGGTCATGTGCTATAATGTAAAGATAAATAATAATATTAGAGTTCAGAACTCTAAATGTATTATAAAGGACAATTGTCTTTGAAATTCAGAAATATTATGTTTGGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGACAGGTGGATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGAAACATGGCAAAACCCTGTCTGTACAAAAACAAAAATTACCTGGGCATGGTGGGATGCACCTGTTTTCAAAGCTATTTGGAGGCTGAGGTGGGAGGATTGCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCAAGATCACGCCAGTGCACTCCAGCCTGGCTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAGAAACATCATGTACTTTGTTTGTCACATTTGTCTTTTAATACGACATTACGTGGCAATACCAATTCTGTTCCTTGAAGAGCTCCTCTTTAAGCTCCATCTGGGTGATGTCCCTGCTGCAGTCTTGTGCGGCAGTACTGTATCCTCTTGCTATGCCAGTGGCCTGTCACCGTGGCCAGCTGCCTATGCCAGAGTAGGTCCCAGGCCACTAGAGGGTGCACAGGAAGTTCTGCCTGATTTGTGTGAAAACAAGGATGTGTTAAGAGAGCGGAGATATGCCCAGTGCTGCGCCCATTTCAGTCACTGCTGGTTAGGTTCGGCATTTCCATGGAGGGCTGAACCTACTCACCCGACTGATGGGACCAGTGAAGGTGTGGTTCCTGACCCCTGACCCCTTAAATGTGCAGATGACACCCCAGATGTGATTCTTCACAAGTAATGTGAATGAAGTAGCCCTTTCAGGGCAGAGCCTAGCGTAATTCAACTGTGATCAGTGCTGGAAGAGAGCTCTGTAATTGCAAGTAGTATCCTTGTGATTTTCTTGACAGTGGCTGTTGGCCAGATTGGAAACTTCCTGGCTTACACGGCGGTCCCCACGGTCCTGGTAACCCCCCTGGGCGCCCTTGGAGTACCGTTCCGGTGAGAGCCAAGATTGTGTTTGGTATTTAATGTGTAGTGTAGATATAACAACTTTTCATTTTAAATGTTTCTGTTAAAGTAATAAGAGCAAAATTGTAATAGAAGATAGATCTTCAGGCCGGGCATGGTGGCTTACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGAATTATTTGAGGTCACGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAACAATATGAAAAATTAGCTGGACATGGTGGCGACCACCTGTAGTCCTAGCTACTCGGGAGGGTGAGACACAAGAATTGCTTGAACCTGGGGGGCAGAGGTTGCAGTGAGTTGAGATGGCACCACAGCACTCCAGCCTGGGAGACAGAGCGAGACTCTGCCTTAAAAAAAAAAAAGAAGATAGATCTTCAGTATTCTACTCTATATCGTTTAATTTTATCCCTTCAAATGTAGTTCTGGGTAGTATTAACCCTTTTCTTAGATATTTAGTATATTTGAAACTGTCACTCATTTTTCCTGCTTATCAGTGAATCTGATGCTCTCATTCTCCTGGTCGTTGTCCTGGAGTACATCTTAGAGACTAGAGAGTCTTCTGACACCTTGGCAAGTTATTCTGAGAACTCATTAAGCAAAATGACTGAGTTGGTGTTTTATTGGGGTGCTTAGCATTCCTTGCTGGATGCCGGACAGTCCCCACCTCAGCCCAGGAAATTACAGAGGTTGGGATGAATAATACACGGCATCAATGGATGTGAAATAGGATTTATGACTGACGCAGTCAATAGCACATGGATTTTCTTAGGAGAAGGTCCCGGGTTTGGTTCTGAGTGAGACGAGTGAGGGGGACCTTTGGATTTTTATTGTAGTTAGGTGGTGGGGTGGGCTGGGGGGCGGTTTGCATGCTTAGGCCGGGCTGGCATGGAGTGAAGTTTTTGCCCATGCCAAGGGACTGAGGACTCTGGGAACTGAGGACTCCAGGGACCCAGTGTGTGCGCAGGCTTCTTTTTAAATTTTAATTTCATTTTATTTATTTTTTTAATTTTATTTCTCCATTTTAAATCATCTTTTTAATTGATACACATGAGTAAGCTTCCTATAAGGTTGCCCAGTTGTGGGGCAAAGGGGAAAGGGGGGAAATGGGAACTGGAGGGCTGCAAGCCATCAAACATTGCAGCTGGACTCTCTGTTTACTTACTGCGAAAATGATTGATGAGATACTTATTAAATAACATATATCCTCGTGTGAACCTATTTATATTCTGATTTGTCTTTGAAGAAATCATTAGAAATAAAAATAGGGTAGAAGAGAAATAAAATCCAAGTTTCTAACTCATGGATACATTGGTTTTCTGCTGTATTCCAGACAGATGCCCAAATCCTTGCAGAGAAGTGTGTCCATGATGGGTGTATTGAAGTTTACACCTTAGAGTCACGTAGGCATTAAGGTTCTGTGACCTAAATACCATGTTTTTCACATGCGACGCCTTGAGAATGTGTGTGTGGCACATTTTTCTCGTGAACACATACACTGCTATCATGTGTGGCTTGGTGTCCCTTTGTGTTTCGGATGGCTCTGAGGCGCTGGGAGGGCAAGAGTGTTCTCACTTTGGGAAACACTCCTCCAGCTTCTGTGACCCGTCCCCCTGAAAGATAATCAGGCAGATAAACAACCTGACCTGGTGATCTTGGCACGTGGCACATTGAATGCACATATACTAAAATGTTTTGCTCAGTTAATTTCCTTAGAACTGTTCTCATGCACTTTGATGATTAAGTCACTTCACCAGAAATGTTCACTGCTCCACATCTGCAGGTGTTACTCACTGTAGGAACCATGTCAGATGGTGTTCTGGATAAAAAGCCTGTCTTCAACTTGGAATCCCAGTAAGACCTTTTCTTTTAAACAGAATAAAACTAAAATTAATTTGGAAAAAAACAATCAAAGATGATTATCAAAGTGTGCATATATGTATGTATATATGAGTTTTTTTTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
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Task1_train_20434
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Mutation context: Chromosome 15, Gene NIPA1 (NIPA magnesium transporter 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Hereditary spastic paraplegia 6
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CTTTAAAACAAAACATCCCTTTCAATATGTAAATGCTCAGGTCCCACTATAAGAGAAGACCTATTGAAGCTGGCCGACCCCACACCTTGTGAGGAGTGGTTGAGAATCTGGTAGCTGCAGATATAGACTGACGTGGGGGTGTAATGTTATTGACTGGGACACTTGAGGTCTTGCTATCAACAAAATGATCCTCAGATGGAGCATAACTCTTAATGAAGTTTTGATCAAAGAACAATCCTCCCTCAATTTACATGGAAGTGACATGTCTGAAGAATTCAGCATATATTAAATCCATGCAAAAATTACTTTGTTTCATACATAAAATAGTTTCTAGGCTCTGATTATTATAGGCATATTTTTCAGTTACAAGTCCGAGGAGACATTCAGCAGTTGTGACGAGAATGGGATGATTTTTGATGGGGGTGGGGGTTGCTGTCTGCACATGCCTCTGCCCACTGGATGCAGCCCCCAATCATTGCAAAACCCACAAACACCCCCACAGCTTAAAGTCCTCCCTCCTGTCCCCTGCCTTACCCCTGCCCCCTGGATTCCCAGGTGCTTTTTTGAAACCTCGGAGCATCTCCATTCACTTGTATTGTTAAGAGAATGTTTCTAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGACGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTGCTAAAAATATAATAGCCAGGCGTGGTGGCGGGTGCTTATGTATTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCTATTGCAATCCAGCCTGGGCAACAAAGAGCAAAACTCCATCTCAAAAAAACAAAACAAACAACAAGAAAAAAAGAGAATGGTTCCAATAGAGGACCATGTAAACATTTAGGAGCTGTAAATGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACTGGTGCATGCCACCACGCCTAGCTAATTTTTTGTATTTTTAGTGGAGAACAGGGTTTCACCAAGTTAGCCAGGATGGTATTGATCTCCTGATCGGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGTGCCCTTCTGTAAATTTTTTTTTTTTTTTCTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTTTGATCTCGGCTCACTGCAACCTCCACCCCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCGCTGTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGTCTGGCTAACCCGGCTGTAAATGTTTTAACAGTGAAAATGATGGGAATACTTTTGTGGAATGAAATCAGTGGGTCTGGTAAATTCAAGCCAGAGCCCACATGCTCCCCAGGGCTGTGCCGCAGTAGAGGCCGGTGGCGGGTGGCGGGTGGGGGCCCGGGTGCTGCCCCAGTCCACCTCCTGGGTTGCGGCTGCTAGGCGGTGGCTCCGGGTGACTGTGTGCTGTCTGTGTTCCAGTGTTTGTGGGCTACCTGTGCATCGTGCTGCTCATGCTGCTGCTGCTCATCTTCTGGATCGCGCCGGCCCATGGGCCCACCAACATCATGGTCTACATCAGCATCTGCTCCTTGCTGGGCAGTTTCACCGTGCCTTCCACCAAGGGCATCGGGCTGGCGGCCCAAGACATCTTGCATAACAACCCGTCCAGTCAGAGAGCCCTCTGCCTGTGCCTGGTACTCCTGGCCGTGCTCGGCTGCAGCATCATCGTCCAGTTCAGGTACATCAACAAGGCGCTGGAGTGCTTCGACTCCTCGGTGTTCGGGGCCATCTACTACGTCGTGTTTACCACGCTGGTCCTGCTGGCCTCAGCCATCCTCTTCCGGGAGTGGAGCAACGTGGGCCTGGTGGACTTCTTGGGGATGGCCTGTGGATTCACGACCGTCTCCGTGGGGATTGTCCTTATACAGGTGTTCAAAGAGTTCAATTTCAACCTTGGGGAGATGAACAAATCTAATATGAAAACAGACTAGATTGCAATAGGAGCTTGGATGGTTCGAGGAATAGGCATTGGAGGTGGTTTCTGGCCGTGATTGGATGTGAAGTAGAAGAGGTCCTCGATCATGGTGTTAGAATTGACTGGATAGTAACAGGTGGTCTGGTGGATAGCGGGGAGCATGGCTCAGCACCAGAGCAGAGGCCCAGCCAGCCCTCTGCAGCCCAAACGTCCCCAACGGTTGCCTGGCACCATCTCTCTCTGATGAGACGAATCTCATTTTCATTTCCATTAACCTGGAAGCTTTCATGAATATTCTCTTCTTTTAAAACATTTTAACATTATTTAAACAGAAAAAGATGGGCTCTTTCTGGTTAGTTGTTACATGATAGCAGAGATATTTTTACTTAGATTACTTTGGGAATGAGAGATTGTTGTCTTGAACTCTGGCACTGTACAGTGAATGTGTCTGTAGTTGTGTTAGTTTGCATTAAGCATGTATAACATTCAAGTATGTCATCCAAATAAGAGGCATATACATTGAATTGTTTTTAATCCTCTGACAAGTTGACTCTTCGACCCCCACCCCCACCCAAGACATTTTAATAGTAAATAGAGAGAGAGAGAAGAGTTAATGAACATGAGGTAGTGTTCCACTGGCAGGATGACTTTTCAATAGCTCAAATCAATTTCAGTGCCTTTATCACTTGAATTATTAACTTAATTTGACTCTTAATGTGTATATGTTCTTAGATTAGAATAATGCAACTTCGAGTATGCTTTAATATTTCAATATTCAAGTTACAAATGTATAAGGCAGTTAGAAATAATACAGTCACATGTCACTTAATGATAGGGAAACATTCTGAGAAATGCATTGTAAGGTGACTTTATTGTGTGAACATCATGGAGTGCACTTATACAAACCTAGATGGGACACCTATGACCCACCCAGGCCAGATGGTACAGCCTGTTGCTCCTGGGCCACACACCTGTACAGCATGTGACCGCACTGAATACCGCAGGCAATTGTAACACAGTGGTGAGTATTTGTGTTTACAAACATAGGAAAGGTACAGTAAAACTATGGTATTACAATGTTATGGGACCACCGTCATGTAAGTGGTATGTCTTTGACAGAAACATGGTTACGTGGTTCATGACTGTATATTCACTGGAAGATAGTCAAGACTAAAGACACATTAGAGCAAATTGACCCCTTTAACATGTGATTATTGTCCAATTAAAGACAGTTGATTTAAGTAGCATGAGGTATTATTTTATTTGTATTCGATCTGTGTTACCTGGGATCCAGTATCAAATATATCCACATTCTTTATCAGCAAGCATTCATGGCCATTCAGAAGAAATAAATTAGGTAACTTGATAATAAGGCTAAGTGGGAGAGTACCTGTTCAATAGCTCATATATCGAGTACCCTGTCATACAGGAACAAGTTAAAGGACACAATTGAGGTTAGGCTAGCTTCTACAAATTGCAATATGCAGTTTTTGAAAGATTTTCTAACAAAAAGCCAATAAATGTAGCCATCTCCTTGTTGTTTGCAATGGCAGAGCATCCTAGAGTTCCTCAGCTAACCTCTCATTATGTGTCTTAAATGCAAAAGAGCCATTAATTATGCCAGTATTTGAATCAAAGAGGTCATTCTCTGTCTATAGTGTTCCCATCCATGTGTTCCAAATGGGAGCATAGCATGAAGTGATGCACATATTTCACCACGGTATCATGTACTTCATGGCCAGTGTTTTATCTCAGCAGGGAACTACGCCAAGTTGAAAGATGGGGTTGGGTAAAGTAGATTAGG
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CTTTAAAACAAAACATCCCTTTCAATATGTAAATGCTCAGGTCCCACTATAAGAGAAGACCTATTGAAGCTGGCCGACCCCACACCTTGTGAGGAGTGGTTGAGAATCTGGTAGCTGCAGATATAGACTGACGTGGGGGTGTAATGTTATTGACTGGGACACTTGAGGTCTTGCTATCAACAAAATGATCCTCAGATGGAGCATAACTCTTAATGAAGTTTTGATCAAAGAACAATCCTCCCTCAATTTACATGGAAGTGACATGTCTGAAGAATTCAGCATATATTAAATCCATGCAAAAATTACTTTGTTTCATACATAAAATAGTTTCTAGGCTCTGATTATTATAGGCATATTTTTCAGTTACAAGTCCGAGGAGACATTCAGCAGTTGTGACGAGAATGGGATGATTTTTGATGGGGGTGGGGGTTGCTGTCTGCACATGCCTCTGCCCACTGGATGCAGCCCCCAATCATTGCAAAACCCACAAACACCCCCACAGCTTAAAGTCCTCCCTCCTGTCCCCTGCCTTACCCCTGCCCCCTGGATTCCCAGGTGCTTTTTTGAAACCTCGGAGCATCTCCATTCACTTGTATTGTTAAGAGAATGTTTCTAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGACGGCGGATCACCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTGCTAAAAATATAATAGCCAGGCGTGGTGGCGGGTGCTTATGTATTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCAGAGATCGTGCTATTGCAATCCAGCCTGGGCAACAAAGAGCAAAACTCCATCTCAAAAAAACAAAACAAACAACAAGAAAAAAAGAGAATGGTTCCAATAGAGGACCATGTAAACATTTAGGAGCTGTAAATGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGACTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACTGGTGCATGCCACCACGCCTAGCTAATTTTTTGTATTTTTAGTGGAGAACAGGGTTTCACCAAGTTAGCCAGGATGGTATTGATCTCCTGATCGGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGTGCCCTTCTGTAAATTTTTTTTTTTTTTTCTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTTTGATCTCGGCTCACTGCAACCTCCACCCCCTAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCGCTGTAATTTTTGTACTTTTAGTAGAGACGGGGTTTCACCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCTGCCTTGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGTCTGGCTAACCCGGCTGTAAATGTTTTAACAGTGAAAATGATGGGAATACTTTTGTGGAATGAAATCAGTGGGTCTGGTAAATTCAAGCCAGAGCCCACATGCTCCCCAGGGCTGTGCCGCAGTAGAGGCCGGTGGCGGGTGGCGGGTGGGGGCCCGGGTGCTGCCCCAGTCCACCTCCTGGGTTGCGGCTGCTAGGCGGTGGCTCCGGGTGACTGTGTGCTGTCTGTGTTCCAGTGTTTGTGGGCTACCTGTGCATCGTGCTGCTCATGCTGCTGCTGCTCATCTTCTGGATCGCGCCGGCCCATGGGCCCACCAACATCATGGTCTACATCAGCATCTGCTCCTTGCTGGGCAGTTTCACCGTGCCTTCCACCAAGGGCATCGGGCTGGCGGCCCAAGACATCTTGCATAACAACCCGTCCAGTCAGAGAGCCCTCTGCCTGTGCCTGGTACTCCTGGCCGTGCTCGGCTGCAGCATCATCGTCCGGTTCAGGTACATCAACAAGGCGCTGGAGTGCTTCGACTCCTCGGTGTTCGGGGCCATCTACTACGTCGTGTTTACCACGCTGGTCCTGCTGGCCTCAGCCATCCTCTTCCGGGAGTGGAGCAACGTGGGCCTGGTGGACTTCTTGGGGATGGCCTGTGGATTCACGACCGTCTCCGTGGGGATTGTCCTTATACAGGTGTTCAAAGAGTTCAATTTCAACCTTGGGGAGATGAACAAATCTAATATGAAAACAGACTAGATTGCAATAGGAGCTTGGATGGTTCGAGGAATAGGCATTGGAGGTGGTTTCTGGCCGTGATTGGATGTGAAGTAGAAGAGGTCCTCGATCATGGTGTTAGAATTGACTGGATAGTAACAGGTGGTCTGGTGGATAGCGGGGAGCATGGCTCAGCACCAGAGCAGAGGCCCAGCCAGCCCTCTGCAGCCCAAACGTCCCCAACGGTTGCCTGGCACCATCTCTCTCTGATGAGACGAATCTCATTTTCATTTCCATTAACCTGGAAGCTTTCATGAATATTCTCTTCTTTTAAAACATTTTAACATTATTTAAACAGAAAAAGATGGGCTCTTTCTGGTTAGTTGTTACATGATAGCAGAGATATTTTTACTTAGATTACTTTGGGAATGAGAGATTGTTGTCTTGAACTCTGGCACTGTACAGTGAATGTGTCTGTAGTTGTGTTAGTTTGCATTAAGCATGTATAACATTCAAGTATGTCATCCAAATAAGAGGCATATACATTGAATTGTTTTTAATCCTCTGACAAGTTGACTCTTCGACCCCCACCCCCACCCAAGACATTTTAATAGTAAATAGAGAGAGAGAGAAGAGTTAATGAACATGAGGTAGTGTTCCACTGGCAGGATGACTTTTCAATAGCTCAAATCAATTTCAGTGCCTTTATCACTTGAATTATTAACTTAATTTGACTCTTAATGTGTATATGTTCTTAGATTAGAATAATGCAACTTCGAGTATGCTTTAATATTTCAATATTCAAGTTACAAATGTATAAGGCAGTTAGAAATAATACAGTCACATGTCACTTAATGATAGGGAAACATTCTGAGAAATGCATTGTAAGGTGACTTTATTGTGTGAACATCATGGAGTGCACTTATACAAACCTAGATGGGACACCTATGACCCACCCAGGCCAGATGGTACAGCCTGTTGCTCCTGGGCCACACACCTGTACAGCATGTGACCGCACTGAATACCGCAGGCAATTGTAACACAGTGGTGAGTATTTGTGTTTACAAACATAGGAAAGGTACAGTAAAACTATGGTATTACAATGTTATGGGACCACCGTCATGTAAGTGGTATGTCTTTGACAGAAACATGGTTACGTGGTTCATGACTGTATATTCACTGGAAGATAGTCAAGACTAAAGACACATTAGAGCAAATTGACCCCTTTAACATGTGATTATTGTCCAATTAAAGACAGTTGATTTAAGTAGCATGAGGTATTATTTTATTTGTATTCGATCTGTGTTACCTGGGATCCAGTATCAAATATATCCACATTCTTTATCAGCAAGCATTCATGGCCATTCAGAAGAAATAAATTAGGTAACTTGATAATAAGGCTAAGTGGGAGAGTACCTGTTCAATAGCTCATATATCGAGTACCCTGTCATACAGGAACAAGTTAAAGGACACAATTGAGGTTAGGCTAGCTTCTACAAATTGCAATATGCAGTTTTTGAAAGATTTTCTAACAAAAAGCCAATAAATGTAGCCATCTCCTTGTTGTTTGCAATGGCAGAGCATCCTAGAGTTCCTCAGCTAACCTCTCATTATGTGTCTTAAATGCAAAAGAGCCATTAATTATGCCAGTATTTGAATCAAAGAGGTCATTCTCTGTCTATAGTGTTCCCATCCATGTGTTCCAAATGGGAGCATAGCATGAAGTGATGCACATATTTCACCACGGTATCATGTACTTCATGGCCAGTGTTTTATCTCAGCAGGGAACTACGCCAAGTTGAAAGATGGGGTTGGGTAAAGTAGATTAGG
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Task1_train_20435
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A genomic change on Chromosome 15 affects MKRN3 (makorin ring finger protein 3). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Precocious puberty, central, 2
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GCAGTCATGATACGTACTCTCAGCAAAGTAGGAATACAAAAAAATGATTAATCTACTACATTTATCTGCAAAAATGACAAAACGCTCATACATGGAAATTAAAGACCATTCCTTTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGCCCTCAGAAATCCCAGAAAACAAAGACCAAAAGAAACGGCGCCTTGTCAACCGAACGAATTGAAAAAAGCTTCCTGCCGCGATCGGGCATTAAAAGAAAAAAACCACAGACATAAGATGGAGTGAATAAAAAAAGAATTTATATAATTCATGGATGAAATGTTTCAGAATCTATAGGATTATATTTTTTTTAAGGCAGACAGATACGAAAATACAACGAAGCGTGCATGACCGAAACCAGAAGAGATTAAAGTAAAACCTCATTCTCCTGAGGAAATCGTGTGAGAAGGGACTTAGGGACTGCCGGAACACAGCGAAGCAGAGGCAGAAGGCAGACAAAAGGGGCTGGGTTGGTCCCCGCCTGTGTGAACGAAAAAATATGTCAGATTGGAAAATTGCGGTAAAAACCAGGCAGAGCACGTACGTTGCCCCCACAGGAAGTGTCCGCCATGCTGCCTGTGCCCGGAAGTAGGTAGGAACACACAGTCAGAGGGACCCAAAAGCAGGGGGGAAGGAAAAAGAGATGCACACTTCCCCCAGAGAAGCCTCCGAGCGCGGCCGCCATTCCGGGCCTCAAGCCCATAAAGAAAAAATACCGGAGAGGTTCTGGCACCATTTCGGGGTGCCAAAGCAGCCATGGAAGAGCCTGCAGCTCCCTCAGAAGCCCACGAGGCAGCCGGGGCCCAGGCAGGTGCTGAGGCAGCAAGGGAGGGTGTGTCTGGGCCGGACCTTCCCGTCTGTGAGCCCTCCGGGGAATCTGCTGCTCCAGATTCAGCCCTGCCACATGCGGCAAGGGGCTGGGCCCCCTTCCCTGTAGCTCCAGTCCCTGCCCACCTCCGCAGAGGAGGCCTGAGGCCTGCCCCAGCCTCAGGAGGAGGAGCCTGGCCCAGTCCGTTGCCAAGCCGAAGCAGCGGCATTTGGACAAAGCAGATCATCTGCAGGTATTATATACATGGGCAGTGCAAGGAGGGGGAGAACTGTCGCTATTCGCACGACCTTTCTGGTCGGAAGATGGCCACTGAGGGTGGCGTTTCGCCGCCTGGGGCCTCTGCAGGTGGAGGCCCTAGCACGGCTGCGCACATCGAGCCCCCGACTCAGGAAGTGGCGGAAGCCCCCCCGGCTGCATCCTCCCTTTCCTTGCCTGTGATTGGCTCGGCTGCTGAAAGGGGTTTCTTTGAAGCCGAGAGAGACAATGCAGACCGTGGAGCTGCTGGAGGAGCAGGTGTAGAAAGCTGGGCGGATGCCATTGAGTTTGTTCCAGGGCAGCCCTACCGGGGCCGCTGGGTTGCATCTGCCCCCGAGGCTCCTCTACAGAGCTCAGAGACTGAGAGGAAGCAGATGGCTGTGGGCAGTGGGTTGCGGTTTTGCTATTATGCTTCCAGGGGAGTTTGCTTTCGTGGGGAGAGCTGTATGTACCTCCATGGAGACATATGCGACATGTGTGGGCTGCAGACCTTGCACCCCATGGATGCTGCCCAGAGGGAAGAACATATGAGGGCCTGCATTGAAGCACACGAGAAAGATATGGAACTCTCGTTTGCTGTGCAGCGTGGTATGGACAAGGTGTGTGGCATCTGCATGGAGGTTGTCTATGAGAAGGCCAACCCCAATGACCGCCGCTTTGGCATTCTTTCCAATTGCAACCATTCCTTCTGTATTAGGTGTATCCGCAGGTGGAGAAGTGCCAGACAGTTTGAGAACAGGATCGTCAAGTCTTGCCCACAGTGCAGGGTCACCTCTGAATTGGTCATTCCCAGTGAGTTCTGGGTGGAGGAGGAGGAAGAGAAGCAGAAACTTATTCAGCAATACAAGGAGGCAATGAGCAACAAGGCCTGCAGGTATTTTGCGGAAGGCAGGGGTAACTGCCCATTTGGAGACACATGCTTTTACAAGCATGAATACCCTGAGGGCTGGGGAGATGAGCCTCCTGGGCCAGGTGGTGGGTCATTCAGCGCATACTGGCATCAACTTGTGGAGCCTGTGCGAATGGGAGAGGGCAACATGCTCTATAAAAGCATTAAGAAGGAGCTTGTCGTGCTTCGGCTGGCCAGTCTGTTGTTTAAGCGGTTTCTTTCACTGAGAGATGAGTTACCCTTCTCTGAGGACCAGTGGGACTTGCTTCATTATGAGCTGGAAGAATATTTCAATTTGATTCTGTAGCATCGTGCTGTGGCATGTGGTCTAGTCTGCTGAGGTTCTGTCGTCTGCTATTGCCTGTTTTCCCTGTGTTGACACTCTTACTGCTTTCAGGGGCTGTTGAGGCAGTGCTTCTGTTTTCTTGTCTATTCTGCATATCTTTCCCCCTAGGATTATGGTGATTATCTGTGTTAAAAAATAAGTCCTTAAAGTTACTGTTTTGGTGAAATTAATATTAATGTCAGCTTATGGCTTTTTTTTGTCATCTCTGTTGTCAACAGGATTAACTCAGTTCTAGTGTAGTGTTTACTGAATTTCCACACTTATTTTGAAGACCCTCAAGAGTAAATGTGGCAGAGTGAAAGGAGAAGTTTTAATTGAACTAGTAGCTTTGTGCTATAATAGCCTTAACAAATGGACCCTTGCAGGGCTTTGCAGCTGCTCATCTGTTTGTTTACAGTTTGTTCTTTCCCTCCTTCCCCTTCAAGTGCACTTGTTAAACTGTGATGAACTTGTGATTTTGTGTTTTACTTGACCAAAACCAAGTGTATATGTTTACATGTTTTTATCCTGTTTAGCTTGACATGAAATAATTTATATTTGGAAATATATATTTAAGAATTATATATATAAAAATATATATGTATAAGAGTTATGTATTTGAAAAAAATATATAAAAGAATATACATCACAATATAATATTTATGTTTATGTAATAAAGTAAATACAGAGCTGAAAGCTGAAGGTCAAAGCCTAACAGGATTGGCTGTTGTGTGGATGTGAGTTGTGTGAATAATCTTTCTGTCCCTCGCACAGAAGCCAGTAATTAGCATCTAATGAAAAGGACTGTTCAAGTGGGTCTGGCCAAATGTGACAGATGCAGATCTTAGAGGACTTACAAAGCACTATATTGGTAATTCTTACAATGGCATTAATAGCTTACTCTATAAATACAGAAATGGTTTTCCTATGCAGTTTAGCCACCTTCTCATTAATTCTTTGTAACAGCAAATCCTAGGCTCAGAGGCACAGTGCTTTGTATTTGATATACAAAGTCTCTAGACTTTCCCAACAAGGGGCTTTTGACAAAAGAGTTCAACATAAAAGTAACAAGATTATAAAAGGGAAAATAGAACAAAAATATTAAAACCAATGAGAATAAAAGAATGGAAAGATAAAATAATAAAATATAGAAAGCACTAAAAACTAAGTGTAAGACTAATATAGAAAATCTACATACAACTTAATTAGATTAAATGAAAGCAGTTTAAAGACTGAAAGTCAAAGGCTATAAGACTTCATTACAATCAGAATGAAACATCCTGTTTAAAATACACACAACATGAAAATACAGAAACACTCAAAGTAGTAGGATGGGAAAAAGCCGAACAGGTGCTGTGGACTCTCTTGATTGTAGACAAAGTTTATAGTAAGGATAAACACTTTGCTGGAGATAAAAAGGAATGGTACATAAACATTAAATTGTAATTCACAGGAATATATAACTTCAAATTTTGTATACATTTAAT
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GCAGTCATGATACGTACTCTCAGCAAAGTAGGAATACAAAAAAATGATTAATCTACTACATTTATCTGCAAAAATGACAAAACGCTCATACATGGAAATTAAAGACCATTCCTTTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGCCCTCAGAAATCCCAGAAAACAAAGACCAAAAGAAACGGCGCCTTGTCAACCGAACGAATTGAAAAAAGCTTCCTGCCGCGATCGGGCATTAAAAGAAAAAAACCACAGACATAAGATGGAGTGAATAAAAAAAGAATTTATATAATTCATGGATGAAATGTTTCAGAATCTATAGGATTATATTTTTTTTAAGGCAGACAGATACGAAAATACAACGAAGCGTGCATGACCGAAACCAGAAGAGATTAAAGTAAAACCTCATTCTCCTGAGGAAATCGTGTGAGAAGGGACTTAGGGACTGCCGGAACACAGCGAAGCAGAGGCAGAAGGCAGACAAAAGGGGCTGGGTTGGTCCCCGCCTGTGTGAACGAAAAAATATGTCAGATTGGAAAATTGCGGTAAAAACCAGGCAGAGCACGTACGTTGCCCCCACAGGAAGTGTCCGCCATGCTGCCTGTGCCCGGAAGTAGGTAGGAACACACAGTCAGAGGGACCCAAAAGCAGGGGGGAAGGAAAAAGAGATGCACACTTCCCCCAGAGAAGCCTCCGAGCGCGGCCGCCATTCCGGGCCTCAAGCCCATAAAGAAAAAATACCGGAGAGGTTCTGGCACCATTTCGGGGTGCCAAAGCAGCCATGGAAGAGCCTGCAGCTCCCTCAGAAGCCCACGAGGCAGCCGGGGCCCAGGCAGGTGCTGAGGCAGCAAGGGAGGGTGTGTCTGGGCCGGACCTTCCCGTCTGTGAGCCCTCCGGGGAATCTGCTGCTCCAGATTCAGCCCTGCCACATGCGGCAAGGGGCTGGGCCCCCTTCCCTGTAGCTCCAGTCCCTGCCCACCTCCGCAGAGGAGGCCTGAGGCCTGCCCCAGCCTCAGGAGGAGGAGCCTGGCCCAGTCCGTTGCCAAGCCGAAGCAGCGGCATTTGGACAAAGCAGATCATCTGCAGGTATTATATACATGGGCAGTGCAAGGAGGGGGAGAACTGTCGCTATTCGCACGACCTTTCTGGTCGGAAGATGGCCACTGAGGGTGGCGTTTCGCCGCCTGGGGCCTCTGCAGGTGGAGGCCCTAGCACGGCTGCGCACATCGAGCCCCCGACTCAGGAAGTGGCGGAAGCCCCCCCGGCTGCATCCTCCCTTTCCTTGCCTGTGATTGGCTCGGCTGCTGAAAGGGGTTTCTTTGAAGCCGAGAGAGACAATGCAGACCGTGGAGCTGCTGGAGGAGCAGGTGTAGAAAGCTGGGCGGATGCCATTGAGTTTGTTCCAGGGCAGCCCTACCGGGGCCGCTGGGTTGCATCTGCCCCCGAGGCTCCTCTACAGAGCTCAGAGACTGAGAGGAAGCAGATGGCTGTGGGCAGTGGGTTGCGGTTTTGCTATTATGCTTCCAGGGGAGTTTGCTTTCGTGGGGAGAGCTGTATGTACCTCCATGGAGACATATGCGACATGTGTGGGCTGCAGACCTTGCACCCCATGGATGCTGCCCAGAGGGAAGAACATATGAGGGCCTGCATTGAAGCACACGAGAAAGATATGGAACTCTCGTTTGCTGTGCAGCGTGGTATGGACAAGGTGTGTGGCATCTGCATGGAGGTTGTCTATGAGAAGGCCAACCCCAATGACCGCTGCTTTGGCATTCTTTCCAATTGCAACCATTCCTTCTGTATTAGGTGTATCCGCAGGTGGAGAAGTGCCAGACAGTTTGAGAACAGGATCGTCAAGTCTTGCCCACAGTGCAGGGTCACCTCTGAATTGGTCATTCCCAGTGAGTTCTGGGTGGAGGAGGAGGAAGAGAAGCAGAAACTTATTCAGCAATACAAGGAGGCAATGAGCAACAAGGCCTGCAGGTATTTTGCGGAAGGCAGGGGTAACTGCCCATTTGGAGACACATGCTTTTACAAGCATGAATACCCTGAGGGCTGGGGAGATGAGCCTCCTGGGCCAGGTGGTGGGTCATTCAGCGCATACTGGCATCAACTTGTGGAGCCTGTGCGAATGGGAGAGGGCAACATGCTCTATAAAAGCATTAAGAAGGAGCTTGTCGTGCTTCGGCTGGCCAGTCTGTTGTTTAAGCGGTTTCTTTCACTGAGAGATGAGTTACCCTTCTCTGAGGACCAGTGGGACTTGCTTCATTATGAGCTGGAAGAATATTTCAATTTGATTCTGTAGCATCGTGCTGTGGCATGTGGTCTAGTCTGCTGAGGTTCTGTCGTCTGCTATTGCCTGTTTTCCCTGTGTTGACACTCTTACTGCTTTCAGGGGCTGTTGAGGCAGTGCTTCTGTTTTCTTGTCTATTCTGCATATCTTTCCCCCTAGGATTATGGTGATTATCTGTGTTAAAAAATAAGTCCTTAAAGTTACTGTTTTGGTGAAATTAATATTAATGTCAGCTTATGGCTTTTTTTTGTCATCTCTGTTGTCAACAGGATTAACTCAGTTCTAGTGTAGTGTTTACTGAATTTCCACACTTATTTTGAAGACCCTCAAGAGTAAATGTGGCAGAGTGAAAGGAGAAGTTTTAATTGAACTAGTAGCTTTGTGCTATAATAGCCTTAACAAATGGACCCTTGCAGGGCTTTGCAGCTGCTCATCTGTTTGTTTACAGTTTGTTCTTTCCCTCCTTCCCCTTCAAGTGCACTTGTTAAACTGTGATGAACTTGTGATTTTGTGTTTTACTTGACCAAAACCAAGTGTATATGTTTACATGTTTTTATCCTGTTTAGCTTGACATGAAATAATTTATATTTGGAAATATATATTTAAGAATTATATATATAAAAATATATATGTATAAGAGTTATGTATTTGAAAAAAATATATAAAAGAATATACATCACAATATAATATTTATGTTTATGTAATAAAGTAAATACAGAGCTGAAAGCTGAAGGTCAAAGCCTAACAGGATTGGCTGTTGTGTGGATGTGAGTTGTGTGAATAATCTTTCTGTCCCTCGCACAGAAGCCAGTAATTAGCATCTAATGAAAAGGACTGTTCAAGTGGGTCTGGCCAAATGTGACAGATGCAGATCTTAGAGGACTTACAAAGCACTATATTGGTAATTCTTACAATGGCATTAATAGCTTACTCTATAAATACAGAAATGGTTTTCCTATGCAGTTTAGCCACCTTCTCATTAATTCTTTGTAACAGCAAATCCTAGGCTCAGAGGCACAGTGCTTTGTATTTGATATACAAAGTCTCTAGACTTTCCCAACAAGGGGCTTTTGACAAAAGAGTTCAACATAAAAGTAACAAGATTATAAAAGGGAAAATAGAACAAAAATATTAAAACCAATGAGAATAAAAGAATGGAAAGATAAAATAATAAAATATAGAAAGCACTAAAAACTAAGTGTAAGACTAATATAGAAAATCTACATACAACTTAATTAGATTAAATGAAAGCAGTTTAAAGACTGAAAGTCAAAGGCTATAAGACTTCATTACAATCAGAATGAAACATCCTGTTTAAAATACACACAACATGAAAATACAGAAACACTCAAAGTAGTAGGATGGGAAAAAGCCGAACAGGTGCTGTGGACTCTCTTGATTGTAGACAAAGTTTATAGTAAGGATAAACACTTTGCTGGAGATAAAAAGGAATGGTACATAAACATTAAATTGTAATTCACAGGAATATATAACTTCAAATTTTGTATACATTTAAT
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Task1_train_20436
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A variant was discovered on Chromosome 15, affecting MKRN3 (makorin ring finger protein 3). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Precocious puberty, central, 2
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TTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGCCCTCAGAAATCCCAGAAAACAAAGACCAAAAGAAACGGCGCCTTGTCAACCGAACGAATTGAAAAAAGCTTCCTGCCGCGATCGGGCATTAAAAGAAAAAAACCACAGACATAAGATGGAGTGAATAAAAAAAGAATTTATATAATTCATGGATGAAATGTTTCAGAATCTATAGGATTATATTTTTTTTAAGGCAGACAGATACGAAAATACAACGAAGCGTGCATGACCGAAACCAGAAGAGATTAAAGTAAAACCTCATTCTCCTGAGGAAATCGTGTGAGAAGGGACTTAGGGACTGCCGGAACACAGCGAAGCAGAGGCAGAAGGCAGACAAAAGGGGCTGGGTTGGTCCCCGCCTGTGTGAACGAAAAAATATGTCAGATTGGAAAATTGCGGTAAAAACCAGGCAGAGCACGTACGTTGCCCCCACAGGAAGTGTCCGCCATGCTGCCTGTGCCCGGAAGTAGGTAGGAACACACAGTCAGAGGGACCCAAAAGCAGGGGGGAAGGAAAAAGAGATGCACACTTCCCCCAGAGAAGCCTCCGAGCGCGGCCGCCATTCCGGGCCTCAAGCCCATAAAGAAAAAATACCGGAGAGGTTCTGGCACCATTTCGGGGTGCCAAAGCAGCCATGGAAGAGCCTGCAGCTCCCTCAGAAGCCCACGAGGCAGCCGGGGCCCAGGCAGGTGCTGAGGCAGCAAGGGAGGGTGTGTCTGGGCCGGACCTTCCCGTCTGTGAGCCCTCCGGGGAATCTGCTGCTCCAGATTCAGCCCTGCCACATGCGGCAAGGGGCTGGGCCCCCTTCCCTGTAGCTCCAGTCCCTGCCCACCTCCGCAGAGGAGGCCTGAGGCCTGCCCCAGCCTCAGGAGGAGGAGCCTGGCCCAGTCCGTTGCCAAGCCGAAGCAGCGGCATTTGGACAAAGCAGATCATCTGCAGGTATTATATACATGGGCAGTGCAAGGAGGGGGAGAACTGTCGCTATTCGCACGACCTTTCTGGTCGGAAGATGGCCACTGAGGGTGGCGTTTCGCCGCCTGGGGCCTCTGCAGGTGGAGGCCCTAGCACGGCTGCGCACATCGAGCCCCCGACTCAGGAAGTGGCGGAAGCCCCCCCGGCTGCATCCTCCCTTTCCTTGCCTGTGATTGGCTCGGCTGCTGAAAGGGGTTTCTTTGAAGCCGAGAGAGACAATGCAGACCGTGGAGCTGCTGGAGGAGCAGGTGTAGAAAGCTGGGCGGATGCCATTGAGTTTGTTCCAGGGCAGCCCTACCGGGGCCGCTGGGTTGCATCTGCCCCCGAGGCTCCTCTACAGAGCTCAGAGACTGAGAGGAAGCAGATGGCTGTGGGCAGTGGGTTGCGGTTTTGCTATTATGCTTCCAGGGGAGTTTGCTTTCGTGGGGAGAGCTGTATGTACCTCCATGGAGACATATGCGACATGTGTGGGCTGCAGACCTTGCACCCCATGGATGCTGCCCAGAGGGAAGAACATATGAGGGCCTGCATTGAAGCACACGAGAAAGATATGGAACTCTCGTTTGCTGTGCAGCGTGGTATGGACAAGGTGTGTGGCATCTGCATGGAGGTTGTCTATGAGAAGGCCAACCCCAATGACCGCCGCTTTGGCATTCTTTCCAATTGCAACCATTCCTTCTGTATTAGGTGTATCCGCAGGTGGAGAAGTGCCAGACAGTTTGAGAACAGGATCGTCAAGTCTTGCCCACAGTGCAGGGTCACCTCTGAATTGGTCATTCCCAGTGAGTTCTGGGTGGAGGAGGAGGAAGAGAAGCAGAAACTTATTCAGCAATACAAGGAGGCAATGAGCAACAAGGCCTGCAGGTATTTTGCGGAAGGCAGGGGTAACTGCCCATTTGGAGACACATGCTTTTACAAGCATGAATACCCTGAGGGCTGGGGAGATGAGCCTCCTGGGCCAGGTGGTGGGTCATTCAGCGCATACTGGCATCAACTTGTGGAGCCTGTGCGAATGGGAGAGGGCAACATGCTCTATAAAAGCATTAAGAAGGAGCTTGTCGTGCTTCGGCTGGCCAGTCTGTTGTTTAAGCGGTTTCTTTCACTGAGAGATGAGTTACCCTTCTCTGAGGACCAGTGGGACTTGCTTCATTATGAGCTGGAAGAATATTTCAATTTGATTCTGTAGCATCGTGCTGTGGCATGTGGTCTAGTCTGCTGAGGTTCTGTCGTCTGCTATTGCCTGTTTTCCCTGTGTTGACACTCTTACTGCTTTCAGGGGCTGTTGAGGCAGTGCTTCTGTTTTCTTGTCTATTCTGCATATCTTTCCCCCTAGGATTATGGTGATTATCTGTGTTAAAAAATAAGTCCTTAAAGTTACTGTTTTGGTGAAATTAATATTAATGTCAGCTTATGGCTTTTTTTTGTCATCTCTGTTGTCAACAGGATTAACTCAGTTCTAGTGTAGTGTTTACTGAATTTCCACACTTATTTTGAAGACCCTCAAGAGTAAATGTGGCAGAGTGAAAGGAGAAGTTTTAATTGAACTAGTAGCTTTGTGCTATAATAGCCTTAACAAATGGACCCTTGCAGGGCTTTGCAGCTGCTCATCTGTTTGTTTACAGTTTGTTCTTTCCCTCCTTCCCCTTCAAGTGCACTTGTTAAACTGTGATGAACTTGTGATTTTGTGTTTTACTTGACCAAAACCAAGTGTATATGTTTACATGTTTTTATCCTGTTTAGCTTGACATGAAATAATTTATATTTGGAAATATATATTTAAGAATTATATATATAAAAATATATATGTATAAGAGTTATGTATTTGAAAAAAATATATAAAAGAATATACATCACAATATAATATTTATGTTTATGTAATAAAGTAAATACAGAGCTGAAAGCTGAAGGTCAAAGCCTAACAGGATTGGCTGTTGTGTGGATGTGAGTTGTGTGAATAATCTTTCTGTCCCTCGCACAGAAGCCAGTAATTAGCATCTAATGAAAAGGACTGTTCAAGTGGGTCTGGCCAAATGTGACAGATGCAGATCTTAGAGGACTTACAAAGCACTATATTGGTAATTCTTACAATGGCATTAATAGCTTACTCTATAAATACAGAAATGGTTTTCCTATGCAGTTTAGCCACCTTCTCATTAATTCTTTGTAACAGCAAATCCTAGGCTCAGAGGCACAGTGCTTTGTATTTGATATACAAAGTCTCTAGACTTTCCCAACAAGGGGCTTTTGACAAAAGAGTTCAACATAAAAGTAACAAGATTATAAAAGGGAAAATAGAACAAAAATATTAAAACCAATGAGAATAAAAGAATGGAAAGATAAAATAATAAAATATAGAAAGCACTAAAAACTAAGTGTAAGACTAATATAGAAAATCTACATACAACTTAATTAGATTAAATGAAAGCAGTTTAAAGACTGAAAGTCAAAGGCTATAAGACTTCATTACAATCAGAATGAAACATCCTGTTTAAAATACACACAACATGAAAATACAGAAACACTCAAAGTAGTAGGATGGGAAAAAGCCGAACAGGTGCTGTGGACTCTCTTGATTGTAGACAAAGTTTATAGTAAGGATAAACACTTTGCTGGAGATAAAAAGGAATGGTACATAAACATTAAATTGTAATTCACAGGAATATATAACTTCAAATTTTGTATACATTTAATAACATTGTATCAGATACACAACTGATGAAAATCCTAAATCCAGACTCTTAGTGGACAATTTTAATACATCTTTTTAGTAACCAAACAAGCAAAGAAAAAATGAATGTGAAAGA
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TTGTGGATAATATGGCACAGGATATGTTATGAAAGGCTGTCCTGCCACAACACAGCACAGATGGGGTTGAAAGAAAGGAAGGGAAACAAAGGGCTGCCATGAATTAAACCAGTAGAGAAAATAAAAGCCTGGGTCATGCAGGGGACAGTGTCTTATTAGGCCAGCATCAGGACTGGTTGAAGTCTGGCGCTTCTAACACAGTGGGAAAATGAGCATAGTAATCACAATAAAGAAAGACATCTGAAAGGTGCTAACTTAGCCTCGGATCAGAAGTGCTCTCTGCTAATGCCTTGCTGGTGAAAAGCGTATCCAGTGTAAGCCCTCAGAAATCCCAGAAAACAAAGACCAAAAGAAACGGCGCCTTGTCAACCGAACGAATTGAAAAAAGCTTCCTGCCGCGATCGGGCATTAAAAGAAAAAAACCACAGACATAAGATGGAGTGAATAAAAAAAGAATTTATATAATTCATGGATGAAATGTTTCAGAATCTATAGGATTATATTTTTTTTAAGGCAGACAGATACGAAAATACAACGAAGCGTGCATGACCGAAACCAGAAGAGATTAAAGTAAAACCTCATTCTCCTGAGGAAATCGTGTGAGAAGGGACTTAGGGACTGCCGGAACACAGCGAAGCAGAGGCAGAAGGCAGACAAAAGGGGCTGGGTTGGTCCCCGCCTGTGTGAACGAAAAAATATGTCAGATTGGAAAATTGCGGTAAAAACCAGGCAGAGCACGTACGTTGCCCCCACAGGAAGTGTCCGCCATGCTGCCTGTGCCCGGAAGTAGGTAGGAACACACAGTCAGAGGGACCCAAAAGCAGGGGGGAAGGAAAAAGAGATGCACACTTCCCCCAGAGAAGCCTCCGAGCGCGGCCGCCATTCCGGGCCTCAAGCCCATAAAGAAAAAATACCGGAGAGGTTCTGGCACCATTTCGGGGTGCCAAAGCAGCCATGGAAGAGCCTGCAGCTCCCTCAGAAGCCCACGAGGCAGCCGGGGCCCAGGCAGGTGCTGAGGCAGCAAGGGAGGGTGTGTCTGGGCCGGACCTTCCCGTCTGTGAGCCCTCCGGGGAATCTGCTGCTCCAGATTCAGCCCTGCCACATGCGGCAAGGGGCTGGGCCCCCTTCCCTGTAGCTCCAGTCCCTGCCCACCTCCGCAGAGGAGGCCTGAGGCCTGCCCCAGCCTCAGGAGGAGGAGCCTGGCCCAGTCCGTTGCCAAGCCGAAGCAGCGGCATTTGGACAAAGCAGATCATCTGCAGGTATTATATACATGGGCAGTGCAAGGAGGGGGAGAACTGTCGCTATTCGCACGACCTTTCTGGTCGGAAGATGGCCACTGAGGGTGGCGTTTCGCCGCCTGGGGCCTCTGCAGGTGGAGGCCCTAGCACGGCTGCGCACATCGAGCCCCCGACTCAGGAAGTGGCGGAAGCCCCCCCGGCTGCATCCTCCCTTTCCTTGCCTGTGATTGGCTCGGCTGCTGAAAGGGGTTTCTTTGAAGCCGAGAGAGACAATGCAGACCGTGGAGCTGCTGGAGGAGCAGGTGTAGAAAGCTGGGCGGATGCCATTGAGTTTGTTCCAGGGCAGCCCTACCGGGGCCGCTGGGTTGCATCTGCCCCCGAGGCTCCTCTACAGAGCTCAGAGACTGAGAGGAAGCAGATGGCTGTGGGCAGTGGGTTGCGGTTTTGCTATTATGCTTCCAGGGGAGTTTGCTTTCGTGGGGAGAGCTGTATGTACCTCCATGGAGACATATGCGACATGTGTGGGCTGCAGACCTTGCACCCCATGGATGCTGCCCAGAGGGAAGAACATATGAGGGCCTGCATTGAAGCACACGAGAAAGATATGGAACTCTCGTTTGCTGTGCAGCGTGGTATGGACAAGGTGTGTGGCATCTGCATGGAGGTTGTCTATGAGAAGGCCAACCCCAATGACCGCCGCTTTGGCATTCTTTCCAATTGCAACCATTCCTTCTGTATTAGGTGTATCCGCAGGTGGAGAAGTGCCAGACAGTTTGAGAACAGGATCGTCAAGTCTTGCCCACAGTGCAGTGTCACCTCTGAATTGGTCATTCCCAGTGAGTTCTGGGTGGAGGAGGAGGAAGAGAAGCAGAAACTTATTCAGCAATACAAGGAGGCAATGAGCAACAAGGCCTGCAGGTATTTTGCGGAAGGCAGGGGTAACTGCCCATTTGGAGACACATGCTTTTACAAGCATGAATACCCTGAGGGCTGGGGAGATGAGCCTCCTGGGCCAGGTGGTGGGTCATTCAGCGCATACTGGCATCAACTTGTGGAGCCTGTGCGAATGGGAGAGGGCAACATGCTCTATAAAAGCATTAAGAAGGAGCTTGTCGTGCTTCGGCTGGCCAGTCTGTTGTTTAAGCGGTTTCTTTCACTGAGAGATGAGTTACCCTTCTCTGAGGACCAGTGGGACTTGCTTCATTATGAGCTGGAAGAATATTTCAATTTGATTCTGTAGCATCGTGCTGTGGCATGTGGTCTAGTCTGCTGAGGTTCTGTCGTCTGCTATTGCCTGTTTTCCCTGTGTTGACACTCTTACTGCTTTCAGGGGCTGTTGAGGCAGTGCTTCTGTTTTCTTGTCTATTCTGCATATCTTTCCCCCTAGGATTATGGTGATTATCTGTGTTAAAAAATAAGTCCTTAAAGTTACTGTTTTGGTGAAATTAATATTAATGTCAGCTTATGGCTTTTTTTTGTCATCTCTGTTGTCAACAGGATTAACTCAGTTCTAGTGTAGTGTTTACTGAATTTCCACACTTATTTTGAAGACCCTCAAGAGTAAATGTGGCAGAGTGAAAGGAGAAGTTTTAATTGAACTAGTAGCTTTGTGCTATAATAGCCTTAACAAATGGACCCTTGCAGGGCTTTGCAGCTGCTCATCTGTTTGTTTACAGTTTGTTCTTTCCCTCCTTCCCCTTCAAGTGCACTTGTTAAACTGTGATGAACTTGTGATTTTGTGTTTTACTTGACCAAAACCAAGTGTATATGTTTACATGTTTTTATCCTGTTTAGCTTGACATGAAATAATTTATATTTGGAAATATATATTTAAGAATTATATATATAAAAATATATATGTATAAGAGTTATGTATTTGAAAAAAATATATAAAAGAATATACATCACAATATAATATTTATGTTTATGTAATAAAGTAAATACAGAGCTGAAAGCTGAAGGTCAAAGCCTAACAGGATTGGCTGTTGTGTGGATGTGAGTTGTGTGAATAATCTTTCTGTCCCTCGCACAGAAGCCAGTAATTAGCATCTAATGAAAAGGACTGTTCAAGTGGGTCTGGCCAAATGTGACAGATGCAGATCTTAGAGGACTTACAAAGCACTATATTGGTAATTCTTACAATGGCATTAATAGCTTACTCTATAAATACAGAAATGGTTTTCCTATGCAGTTTAGCCACCTTCTCATTAATTCTTTGTAACAGCAAATCCTAGGCTCAGAGGCACAGTGCTTTGTATTTGATATACAAAGTCTCTAGACTTTCCCAACAAGGGGCTTTTGACAAAAGAGTTCAACATAAAAGTAACAAGATTATAAAAGGGAAAATAGAACAAAAATATTAAAACCAATGAGAATAAAAGAATGGAAAGATAAAATAATAAAATATAGAAAGCACTAAAAACTAAGTGTAAGACTAATATAGAAAATCTACATACAACTTAATTAGATTAAATGAAAGCAGTTTAAAGACTGAAAGTCAAAGGCTATAAGACTTCATTACAATCAGAATGAAACATCCTGTTTAAAATACACACAACATGAAAATACAGAAACACTCAAAGTAGTAGGATGGGAAAAAGCCGAACAGGTGCTGTGGACTCTCTTGATTGTAGACAAAGTTTATAGTAAGGATAAACACTTTGCTGGAGATAAAAAGGAATGGTACATAAACATTAAATTGTAATTCACAGGAATATATAACTTCAAATTTTGTATACATTTAATAACATTGTATCAGATACACAACTGATGAAAATCCTAAATCCAGACTCTTAGTGGACAATTTTAATACATCTTTTTAGTAACCAAACAAGCAAAGAAAAAATGAATGTGAAAGA
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Task1_train_20437
|
The gene MAGEL2 (MAGE family member L2) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Schaaf-Yang syndrome
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CGAGCGCTTCAAGGTAATGGAATGGCCAGCTCTGTGGATCTTTCTTATGGAGCTTGGCCAAAAACCTCAGGACAAGCATCTTGCTGGTTTCCAGGAATGCTCGAGGGCCCCAGAGGAACTCATACTCTGCGGGCTCAGTGTAAGGGATTCGCCTGTACTCTAGGTACTTCTGCCTGACAAACACTTCGGTGATGAGCTTCTTAGTATTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCATCTCCGAGCGCTGGACAGGCACCTTGGCTTGGTCCTTGACTAAGAGGAACTGCACCAACGCATTTGCCCTCTCATCCAAGGGAGACAAGGGCTGTGCCTCCACCTTGGAATTATCCTGGGTGGCACTGGATCCCGGAGAGACACTTGCGACCTCAGACACAACTACGGGCAGAGAGCTCCCTGGGCTTTCAGAGAGACCCAGGGCCCTGGAGGTGCTCGGGCCCTCCCAGGCACTCAGGGCCCAGGATGCGCTGGGCCCTTCCCAGCCACTCAGGATCCTGGAGGTGCTAGGGCCCTCCCAACCACTCAGGCCACGGGGGGTGTTTGGGTGCTCCCAGTCACCCGAGACCTGGATAGGGCTTTGGACCTCCCAGTCACTCAGATTTAGATTCTCCCAGGGCCTTGGGCCCTGCCAGTCATGAAAGGCTAGCGTGTGGCCACGGCTGTCCTCTTGGGCTTCCAGATGCTTCTTCTTCCGGGTGGCCTTGCCGGAGCGGCGTGGCGGCTCGACGGAGGTCTTGGAGGCCTCTTGAGTGGTGGCAGTTGCCTGGGGGGCAGCTGCTGTAGCCATCAGGAAGGTGGGCACTGCCTGCGATGCCTTTGAGGCATTCATATTGGGCTGTGGGACCCATGGAACTGCAGGCAGGGCCTCTACACAGGCAAAGGGATCCTGCAGAGCATATGGCAGTGACTTTGGGGTCTCTGAGGCAGCAGAGGGGCCTTTAAAGGCATTCAGAGAGGCAGGCTGAAACTGGGAGGTAGCTGGGAAGACACTTGAGGAGGGAGCAAAGGTCTCCGGTGTGGCAGGCAGGTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGGGGGAGCCTGCCTCTGGGCCTCCTGGGCAGGCAGGGGCTGCCAGATGTGAGTGGGGGCCTTCTGGGCCTGCCAGGCCAGCGCCTGTGTCTGCTGCACCTCCTGGAATTCCATTGACGTTGGAATCTCGTGTGGCACCGGGGGCTGACCTTTGGGGGCCTGCCAGATGATGGAAGGGCAGTGCACAGCCTGCGGGGCAGACAGTGGGGCAGACAGCGGGGCCGGCAGCACAGGCTGGGGCACCTGCGGGCCAGCGGGCGGCGCCGCGGGTACCTGCGTAGCAGGTGGGGCCGTAGGCACCTGCGGCGCCGCCTGCACCTGCGGGGCCGGCAGCCTAGCCTGCGGGGCCTGCCGCAGTGGAGGTGGGGGTGGCAGGGCCTGCCAGAGCGGTGGCTGGGTGGCCAGGACCTGTGGGGCAGGTCGGATGGGCGGCGGCGCCTGGCGGATCAGCGGCGGGGCCTGGCGGATCACAGGTGGAGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCGGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACCGGTGGGGCCTGGCGGATCAGCGGTGGGGCCTGTCGCACCGGTGGTGGGCCAGGGCGGATGGGTGGTGGGCCAGGGCGGATGGGCGGGGGCCCCTGGCGCATGGGCGGCGGCACCTGCCAGGTAACGGCTGGTGCCTGCCAGGTGACCTGCGTGGTCTGCCAAGTCAGGGGAGTGGCCTGCCAGCCTTGCTGCGTGGCCTGCCATCCTGGCGAGGTCGCCTGCCAGCCCGGGGGTGTGGCTAGCTGCGCTGGGGGTGCCTGCGGGCCCTGGGGAACCTGCGGAGGAGCCCTTATAACTTGAGACTGGATTTGCAGGATCAGAGGCTGAGCCTGCGGGGCCCAAGAAGCCATCGGCTGTGCAGGTGGGGCCATCGGCTGTGCAGGTGGGGCCGCCGGCTGTGCCATCGGTGCTCCTGAAGCTGGAGGCTGGGTCATCGGAGCTCTCGCACCTGGAGGATGAATCATCAGGACTCCTGGACCTGGAGGCTTGGCCATCGGTGCTCCTGAAGGCTGAGGCTGGGTCATCATGGCTGCTGGAGGCGGCTGGACCATCGGTGCTCCCGGAGCAGCAGGCTGGACCATCAGGACTCCCGGAGTCAGAGGCTGGGCCATCAGGACTCCCGGAGCTGGAGGCTGGGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGGGTCCCCGGAGGAGGAGGATGCACCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATTGGGGTCCCCGGAGGGGGAGGGTGGGACATTGGGGTCCCCGGAGGAGGAGGATGGGCCATGGGAGCTCCGGGAGCTGAAGGATGCACCATCAGGACTCCCGGGGTCGGAGGCTGGGCCATCGGGGCTCCCGGAGGTGGAGGATGCACCATCAGGACCCCGGGAGTCGGAGGCTTACCCATCGGGCCCCCCAGCGGGGGAGCCGGGACTATCGGGCCCCCTAGGGCAGGAGGCTGGGTCATCGGAACCACCGGGGCGGGCAGCTGGCCCTGTGGGGCCTCCCAGGCAGGCTGAGGTGCCTGCCAAGCGGCCAATGAAGCCTGCAAGTCAATTGGAGGTGGATCCCAAGGGACTGGCGGAGCCCGGGAGGAAGCGGGCGGGGCCCGCATCAGAACCGTAGGGCGGCTATAGACAGGCGGCTTCGGGGCCTCCGCCGGAGGACTCGAGTCACCCAGATTCTTACTTAGCTGCGACATGTCCCTTTGCTGACAGCTGGTGGGTCTTTTCCTCGGACAGCTGCTGGGCCTTTTCCTCCAGAGAGAAGAGAATGCCTACGTGGCTGTTCAGAGGCTCCCTCCCTGCTGAATGCTGAATAGGAAGTGAGTGCTGCTCGCTCCGCAGCTTTCCGCAGTAAGGAGGAGGGGGGAAGGGGGCTCAATCCCGCCCCTTCCCCGCCCCCGACCACCACAAGTGGATATTGCATAGGGGCGTCTACCGGAGTCCTGGCTGACACAGGATCCCTTCTCACTCTGTCCAGTCCCCAAATGCAGACCAGTCAGACTCCACATGGATGACTTTTCACAGGGGAGTGACAGGAACCCATCCATGTTTTAGAAAAATCACTGTACTGCAGTGTGGAGTGGGAGCAGACCACTGGAAACATGGAAGGTATCCAAGACGGCGGGGGGAGA
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CGAGCGCTTCAAGGTAATGGAATGGCCAGCTCTGTGGATCTTTCTTATGGAGCTTGGCCAAAAACCTCAGGACAAGCATCTTGCTGGTTTCCAGGAATGCTCGAGGGCCCCAGAGGAACTCATACTCTGCGGGCTCAGTGTAAGGGATTCGCCTGTACTCTAGGTACTTCTGCCTGACAAACACTTCGGTGATGAGCTTCTTAGTATTTCCAAAGAGACCGTTTGTCTCCCGGACATCCAACCCTAACTTGAACAGAAAATTAAAGATCAGATCCTCCCTGACACAGTTGCCTTTCATAAAGATGAGGCTCAAGACCACCATCAGAAGGCCAAACTTGGGCCTGTCTAAATAGGATGCCACCAAATTCCCTGTATGGTAGCCCAGCTTGTTGATGATAATATAGGCGTGGTTTTTGGTATCAATTTCTTTCAATTGATAACCAAAGGCACACTCCAGCTTATTGTTGGCACGGTTGATGATATCTAAGCACTCATCTTTATACTCTCGGAGGATGACTTTCACCATCTCCGAGCGCTGGACAGGCACCTTGGCTTGGTCCTTGACTAAGAGGAACTGCACCAACGCATTTGCCCTCTCATCCAAGGGAGACAAGGGCTGTGCCTCCACCTTGGAATTATCCTGGGTGGCACTGGATCCCGGAGAGACACTTGCGACCTCAGACACAACTACGGGCAGAGAGCTCCCTGGGCTTTCAGAGAGACCCAGGGCCCTGGAGGTGCTCGGGCCCTCCCAGGCACTCAGGGCCCAGGATGCGCTGGGCCCTTCCCAGCCACTCAGGATCCTGGAGGTGCTAGGGCCCTCCCAACCACTCAGGCCACGGGGGGTGTTTGGGTGCTCCCAGTCACCCGAGACCTGGATAGGGCTTTGGACCTCCCAGTCACTCAGATTTAGATTCTCCCAGGGCCTTGGGCCCTGCCAGTCATGAAAGGCTAGCGTGTGGCCACGGCTGTCCTCTTGGGCTTCCAGATGCTTCTTCTTCCGGGTGGCCTTGCCGGAGCGGCGTGGCGGCTCGACGGAGGTCTTGGAGGCCTCTTGAGTGGTGGCAGTTGCCTGGGGGGCAGCTGCTGTAGCCATCAGGAAGGTGGGCACTGCCTGCGATGCCTTTGAGGCATTCATATTGGGCTGTGGGACCCATGGAACTGCAGGCAGGGCCTCTACACAGGCAAAGGGATCCTGCAGAGCATATGGCAGTGACTTTGGGGTCTCTGAGGCAGCAGAGGGGCCTTTAAAGGCATTCAGAGAGGCAGGCTGAAACTGGGAGGTAGCTGGGAAGACACTTGAGGAGGGAGCAAAGGTCTCCGGTGTGGCAGGCAGGTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGGGGGAGCCTGCCTCTGGGCCTCCTGGGCAGGCAGGGGCTGCCAGATGTGAGTGGGGGCCTTCTGGGCCTGCCAGGCCAGCGCCTGTGTCTGCTGCACCTCCTGGAATTCCATTGACGTTGGAATCTCGTGTGGCACCGGGGGCTGACCTTTGGGGGCCTGCCAGATGATGGAAGGGCAGTGCACAGCCTGCGGGGCAGACAGTGGGGCAGACAGCGGGGCCGGCAGCACAGGCTGGGGCACCTGCGGGCCAGCGGGCGGCGCCGCGGGTACCTGCGTAGCAGGTGGGGCCGTAGGCACCTGCGGCGCCTCCTGCACCTGCGGGGCCGGCAGCCTAGCCTGCGGGGCCTGCCGCAGTGGAGGTGGGGGTGGCAGGGCCTGCCAGAGCGGTGGCTGGGTGGCCAGGACCTGTGGGGCAGGTCGGATGGGCGGCGGCGCCTGGCGGATCAGCGGCGGGGCCTGGCGGATCACAGGTGGAGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCGGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACCGGTGGGGCCTGGCGGATCAGCGGTGGGGCCTGTCGCACCGGTGGTGGGCCAGGGCGGATGGGTGGTGGGCCAGGGCGGATGGGCGGGGGCCCCTGGCGCATGGGCGGCGGCACCTGCCAGGTAACGGCTGGTGCCTGCCAGGTGACCTGCGTGGTCTGCCAAGTCAGGGGAGTGGCCTGCCAGCCTTGCTGCGTGGCCTGCCATCCTGGCGAGGTCGCCTGCCAGCCCGGGGGTGTGGCTAGCTGCGCTGGGGGTGCCTGCGGGCCCTGGGGAACCTGCGGAGGAGCCCTTATAACTTGAGACTGGATTTGCAGGATCAGAGGCTGAGCCTGCGGGGCCCAAGAAGCCATCGGCTGTGCAGGTGGGGCCATCGGCTGTGCAGGTGGGGCCGCCGGCTGTGCCATCGGTGCTCCTGAAGCTGGAGGCTGGGTCATCGGAGCTCTCGCACCTGGAGGATGAATCATCAGGACTCCTGGACCTGGAGGCTTGGCCATCGGTGCTCCTGAAGGCTGAGGCTGGGTCATCATGGCTGCTGGAGGCGGCTGGACCATCGGTGCTCCCGGAGCAGCAGGCTGGACCATCAGGACTCCCGGAGTCAGAGGCTGGGCCATCAGGACTCCCGGAGCTGGAGGCTGGGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGGGTCCCCGGAGGAGGAGGATGCACCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATTGGGGTCCCCGGAGGGGGAGGGTGGGACATTGGGGTCCCCGGAGGAGGAGGATGGGCCATGGGAGCTCCGGGAGCTGAAGGATGCACCATCAGGACTCCCGGGGTCGGAGGCTGGGCCATCGGGGCTCCCGGAGGTGGAGGATGCACCATCAGGACCCCGGGAGTCGGAGGCTTACCCATCGGGCCCCCCAGCGGGGGAGCCGGGACTATCGGGCCCCCTAGGGCAGGAGGCTGGGTCATCGGAACCACCGGGGCGGGCAGCTGGCCCTGTGGGGCCTCCCAGGCAGGCTGAGGTGCCTGCCAAGCGGCCAATGAAGCCTGCAAGTCAATTGGAGGTGGATCCCAAGGGACTGGCGGAGCCCGGGAGGAAGCGGGCGGGGCCCGCATCAGAACCGTAGGGCGGCTATAGACAGGCGGCTTCGGGGCCTCCGCCGGAGGACTCGAGTCACCCAGATTCTTACTTAGCTGCGACATGTCCCTTTGCTGACAGCTGGTGGGTCTTTTCCTCGGACAGCTGCTGGGCCTTTTCCTCCAGAGAGAAGAGAATGCCTACGTGGCTGTTCAGAGGCTCCCTCCCTGCTGAATGCTGAATAGGAAGTGAGTGCTGCTCGCTCCGCAGCTTTCCGCAGTAAGGAGGAGGGGGGAAGGGGGCTCAATCCCGCCCCTTCCCCGCCCCCGACCACCACAAGTGGATATTGCATAGGGGCGTCTACCGGAGTCCTGGCTGACACAGGATCCCTTCTCACTCTGTCCAGTCCCCAAATGCAGACCAGTCAGACTCCACATGGATGACTTTTCACAGGGGAGTGACAGGAACCCATCCATGTTTTAGAAAAATCACTGTACTGCAGTGTGGAGTGGGAGCAGACCACTGGAAACATGGAAGGTATCCAAGACGGCGGGGGGAGA
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Task1_train_20438
|
Given this context: Chromosome 15, gene MAGEL2 (MAGE family member L2) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
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Pathogenic; Schaaf-Yang syndrome
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GTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGGGGGAGCCTGCCTCTGGGCCTCCTGGGCAGGCAGGGGCTGCCAGATGTGAGTGGGGGCCTTCTGGGCCTGCCAGGCCAGCGCCTGTGTCTGCTGCACCTCCTGGAATTCCATTGACGTTGGAATCTCGTGTGGCACCGGGGGCTGACCTTTGGGGGCCTGCCAGATGATGGAAGGGCAGTGCACAGCCTGCGGGGCAGACAGTGGGGCAGACAGCGGGGCCGGCAGCACAGGCTGGGGCACCTGCGGGCCAGCGGGCGGCGCCGCGGGTACCTGCGTAGCAGGTGGGGCCGTAGGCACCTGCGGCGCCGCCTGCACCTGCGGGGCCGGCAGCCTAGCCTGCGGGGCCTGCCGCAGTGGAGGTGGGGGTGGCAGGGCCTGCCAGAGCGGTGGCTGGGTGGCCAGGACCTGTGGGGCAGGTCGGATGGGCGGCGGCGCCTGGCGGATCAGCGGCGGGGCCTGGCGGATCACAGGTGGAGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCGGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACCGGTGGGGCCTGGCGGATCAGCGGTGGGGCCTGTCGCACCGGTGGTGGGCCAGGGCGGATGGGTGGTGGGCCAGGGCGGATGGGCGGGGGCCCCTGGCGCATGGGCGGCGGCACCTGCCAGGTAACGGCTGGTGCCTGCCAGGTGACCTGCGTGGTCTGCCAAGTCAGGGGAGTGGCCTGCCAGCCTTGCTGCGTGGCCTGCCATCCTGGCGAGGTCGCCTGCCAGCCCGGGGGTGTGGCTAGCTGCGCTGGGGGTGCCTGCGGGCCCTGGGGAACCTGCGGAGGAGCCCTTATAACTTGAGACTGGATTTGCAGGATCAGAGGCTGAGCCTGCGGGGCCCAAGAAGCCATCGGCTGTGCAGGTGGGGCCATCGGCTGTGCAGGTGGGGCCGCCGGCTGTGCCATCGGTGCTCCTGAAGCTGGAGGCTGGGTCATCGGAGCTCTCGCACCTGGAGGATGAATCATCAGGACTCCTGGACCTGGAGGCTTGGCCATCGGTGCTCCTGAAGGCTGAGGCTGGGTCATCATGGCTGCTGGAGGCGGCTGGACCATCGGTGCTCCCGGAGCAGCAGGCTGGACCATCAGGACTCCCGGAGTCAGAGGCTGGGCCATCAGGACTCCCGGAGCTGGAGGCTGGGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGGGTCCCCGGAGGAGGAGGATGCACCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATTGGGGTCCCCGGAGGGGGAGGGTGGGACATTGGGGTCCCCGGAGGAGGAGGATGGGCCATGGGAGCTCCGGGAGCTGAAGGATGCACCATCAGGACTCCCGGGGTCGGAGGCTGGGCCATCGGGGCTCCCGGAGGTGGAGGATGCACCATCAGGACCCCGGGAGTCGGAGGCTTACCCATCGGGCCCCCCAGCGGGGGAGCCGGGACTATCGGGCCCCCTAGGGCAGGAGGCTGGGTCATCGGAACCACCGGGGCGGGCAGCTGGCCCTGTGGGGCCTCCCAGGCAGGCTGAGGTGCCTGCCAAGCGGCCAATGAAGCCTGCAAGTCAATTGGAGGTGGATCCCAAGGGACTGGCGGAGCCCGGGAGGAAGCGGGCGGGGCCCGCATCAGAACCGTAGGGCGGCTATAGACAGGCGGCTTCGGGGCCTCCGCCGGAGGACTCGAGTCACCCAGATTCTTACTTAGCTGCGACATGTCCCTTTGCTGACAGCTGGTGGGTCTTTTCCTCGGACAGCTGCTGGGCCTTTTCCTCCAGAGAGAAGAGAATGCCTACGTGGCTGTTCAGAGGCTCCCTCCCTGCTGAATGCTGAATAGGAAGTGAGTGCTGCTCGCTCCGCAGCTTTCCGCAGTAAGGAGGAGGGGGGAAGGGGGCTCAATCCCGCCCCTTCCCCGCCCCCGACCACCACAAGTGGATATTGCATAGGGGCGTCTACCGGAGTCCTGGCTGACACAGGATCCCTTCTCACTCTGTCCAGTCCCCAAATGCAGACCAGTCAGACTCCACATGGATGACTTTTCACAGGGGAGTGACAGGAACCCATCCATGTTTTAGAAAAATCACTGTACTGCAGTGTGGAGTGGGAGCAGACCACTGGAAACATGGAAGGTATCCAAGACGGCGGGGGGAGATGGTGTGGTCTGGGCTAAGATGTGAGGCGGAGAATGAAAAAAGCGCATTTACATAAGAGAGTTCCAGGAGTTATAGCAGACAGATACCTGTATTATAATTGAATAAAGGAGTCAAAGACATGGAAAAGGCACACAAGTCCCTGCCTGGAGAAAGTGGGAAGTTGCAGGGACTGTTACTCTCTTAGGGTCCCAGGAGAGGCACACGGGAAGAGAGGCTGATGAGTATTGGCAGACACAGGGCATTTGCGGTGCTGTGGGACTGCCAAGGAGAGATACCCTGTAGGCACTCCTGTATGATGTCTTGGGAGTCCTGCTTGGCTATTCCTCATGAAAATAGAGTTGTGGGAGGGAATGTGGTTGCACTGGGTCTTGAAGAACACAGGCATGTTAGAGACACATGGAGAAAAGGGACAGCAGCGAGTAGAGAGAGAGGAAAAGAAGTCACGGAACTGAGACATGCCACACATCAGTGGAAGACAGCATTTTTAGTATGGGAAAACTGCCTGTGGAATGGCTCGGATGCAGGAACAGAGTAGGTTTCTCAGTATTTTTCATCTGCAGAATGGGAAAGAAATTTAAAAAATGAAAACCAAATAACGCACCTGAAGATAACAAAATGGGTATATAAATAGATCAAAAATTGATATATTTGGATATATAGGAAAAACAGGCAAAGAATAAAAAAATTTCTGGGGAAACTTCTCGTGACAAAAATCAGTTTAAATATGAGACAAATCAAGTATTAACAGATAAAGCAGATGACAATAGTATTATTGGGCAATGCTATACAACTTTATGGTGAGAGGAAGTGATAATCTCAGTAATTGAAAAGCTTTCTGGAAATATACAAAGCACTAAATATCAAGGATGTTTCGTTTAAATAGGCTGTTGGCAGCCTACGGCAGGAGTCCAGAGTGACAAAACGTGCCACCAGGGGGCAGATGAGGACGATGAAGGGTACACCCCACTCCTTCCCAGGTACCCTTAGCCAGGGGTCCTCAAATTTGGTAATTTATGGACCCAAGAGAAGGTATGTACACACTCCCAATGTTATTATTGCCTTAAACAATAATAGAAGAATTTGGGGGTAAAGTTTCAGTGATTTTCTGGACACTTAAGGGATGTTGTTATTCCCAGGAAACTCTTTTCAAAACAGTCAGATTTTTAAGGGTGCTTGATGATACAGTAGCCCCCCCCACCTTACCTGCAGGGGATACATTCCAAAACTCTCGATGCCCGAACCTGGAGACAGCACCAAACCTTATATATACCATGTATCCCTTTCATTCTCCTTCTTCACAATTTCACAGATAGTTTTGTTTTTGCCATATATCTT
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GTTTTTCCAGGCAGCTGGCAGGTGTGCTCGCGCAGCTGACACTGCCTTGGGAGCACAGAAGGTGGCAGCAAAGATCATGCGGTCTTTTGAAGGGGCCCTGCGCTCCTTCGAGGAGGTCCTGCGCTCTTTAGAGGAGCCCCTGCGGTCTATAGAAGAGGCCCTGCATTCTCCTGATGGAGTCATCAATGATTTAGCGGAGCCCAGGGGAAAATTTGCCGCTGCTACCGGGGGTCCGGGCTGGGCCTGCAAGACTGCAGGCGGTGCCTGCCAGGAAGGCTGGAGCGGCAGTGTGGGCACCTCCGCTTGCGGACCCGATGCCTGGGCCTGCTGGGGGGGTAGCTGGATTTGCACGGCTTTTTGGGAGGGCGGGGCTCCCTGAAAGGGCTGCTCCAGCTGGACCAAGGGGGGAGCCTGCCTCTGGGCCTCCTGGGCAGGCAGGGGCTGCCAGATGTGAGTGGGGGCCTTCTGGGCCTGCCAGGCCAGCGCCTGTGTCTGCTGCACCTCCTGGAATTCCATTGACGTTGGAATCTCGTGTGGCACCGGGGGCTGACCTTTGGGGGCCTGCCAGATGATGGAAGGGCAGTGCACAGCCTGCGGGGCAGACAGTGGGGCAGACAGCGGGGCCGGCAGCACAGGCTGGGGCACCTGCGGGCCAGCGGGCGGCGCCGCGGGTACCTGCGTAGCAGGTGGGGCCGTAGGCACCTGCGGCGCCGCCTGCACCTGCGGGGCCGGCAGCCTAGCCTGCGGGGCCTGCCGCAGTGGAGGTGGGGGTGGCAGGGCCTGCCAGAGCGGTGGCTGGGTGGCCAGGACCTGTGGGGCAGGTCGGATGGGCGGCGGCGCCTGGCGGATCAGCGGCGGGGCCTGGCGGATCACAGGTGGAGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCGGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACCGGTGGGGCCTGGCGGATCAGCGGTGGGGCCTGTCGCACCGGTGGTGGGCCAGGGCGGATGGGTGGTGGGCCAGGGCGGATGGGCGGGGGCCCCTGGCGCATGGGCGGCGGCACCTGCCAGGTAACGGCTGGTGCCTGCCAGGTGACCTGCGTGGTCTGCCAAGTCAGGGGAGTGGCCTGCCAGCCTTGCTGCGTGGCCTGCCATCCTGGCGAGGTCGCCTGCCAGCCCGGGGGTGTGGCTAGCTGCGCTGGGGGTGCCTGCGGGCCCTGGGGAACCTGCGGAGGAGCCCTTATAACTTGAGACTGGATTTGCAGGATCAGAGGCTGAGCCTGCGGGGCCCAAGAAGCCATCGGCTGTGCAGGTGGGGCCATCGGCTGTGCAGGTGGGGCCGCCGGCTGTGCCATCGGTGCTCCTGAAGCTGGAGGCTGGGTCATCGGAGCTCTCGCACCTGGAGGATGAATCATCAGGACTCCTGGACCTGGAGGCTTGGCCATCGGTGCTCCTGAAGGCTGAGGCTGGGTCATCATGGCTGCTGGAGGCGGCTGGACCATCGGTGCTCCCGGAGCAGCAGGCTGGACCATCAGGACTCCCGGAGTCAGAGGCTGGGCCATCAGGACTCCCGGAGCTGGAGGCTGGGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGGGGAGGATGAGCCATCGGGGTCCCCGGAGGAGGAGGATGCACCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATCGGGGTCCCCGGAGGAGGAGGATGGGCCATTGGGGTCCCCGGAGGGGGAGGGTGGGACATTGGGGTCCCCGGAGGAGGAGGATGGGCCATGGGAGCTCCGGGAGCTGAAGGATGCACCATCAGGACTCCCGGGGTCGGAGGCTGGGCCATCGGGGCTCCCGGAGGTGGAGGATGCACCATCAGGACCCCGGGAGTCGGAGGCTTACCCATCGGGCCCCCCAGCGGGGAAGCCGGGACTATCGGGCCCCCTAGGGCAGGAGGCTGGGTCATCGGAACCACCGGGGCGGGCAGCTGGCCCTGTGGGGCCTCCCAGGCAGGCTGAGGTGCCTGCCAAGCGGCCAATGAAGCCTGCAAGTCAATTGGAGGTGGATCCCAAGGGACTGGCGGAGCCCGGGAGGAAGCGGGCGGGGCCCGCATCAGAACCGTAGGGCGGCTATAGACAGGCGGCTTCGGGGCCTCCGCCGGAGGACTCGAGTCACCCAGATTCTTACTTAGCTGCGACATGTCCCTTTGCTGACAGCTGGTGGGTCTTTTCCTCGGACAGCTGCTGGGCCTTTTCCTCCAGAGAGAAGAGAATGCCTACGTGGCTGTTCAGAGGCTCCCTCCCTGCTGAATGCTGAATAGGAAGTGAGTGCTGCTCGCTCCGCAGCTTTCCGCAGTAAGGAGGAGGGGGGAAGGGGGCTCAATCCCGCCCCTTCCCCGCCCCCGACCACCACAAGTGGATATTGCATAGGGGCGTCTACCGGAGTCCTGGCTGACACAGGATCCCTTCTCACTCTGTCCAGTCCCCAAATGCAGACCAGTCAGACTCCACATGGATGACTTTTCACAGGGGAGTGACAGGAACCCATCCATGTTTTAGAAAAATCACTGTACTGCAGTGTGGAGTGGGAGCAGACCACTGGAAACATGGAAGGTATCCAAGACGGCGGGGGGAGATGGTGTGGTCTGGGCTAAGATGTGAGGCGGAGAATGAAAAAAGCGCATTTACATAAGAGAGTTCCAGGAGTTATAGCAGACAGATACCTGTATTATAATTGAATAAAGGAGTCAAAGACATGGAAAAGGCACACAAGTCCCTGCCTGGAGAAAGTGGGAAGTTGCAGGGACTGTTACTCTCTTAGGGTCCCAGGAGAGGCACACGGGAAGAGAGGCTGATGAGTATTGGCAGACACAGGGCATTTGCGGTGCTGTGGGACTGCCAAGGAGAGATACCCTGTAGGCACTCCTGTATGATGTCTTGGGAGTCCTGCTTGGCTATTCCTCATGAAAATAGAGTTGTGGGAGGGAATGTGGTTGCACTGGGTCTTGAAGAACACAGGCATGTTAGAGACACATGGAGAAAAGGGACAGCAGCGAGTAGAGAGAGAGGAAAAGAAGTCACGGAACTGAGACATGCCACACATCAGTGGAAGACAGCATTTTTAGTATGGGAAAACTGCCTGTGGAATGGCTCGGATGCAGGAACAGAGTAGGTTTCTCAGTATTTTTCATCTGCAGAATGGGAAAGAAATTTAAAAAATGAAAACCAAATAACGCACCTGAAGATAACAAAATGGGTATATAAATAGATCAAAAATTGATATATTTGGATATATAGGAAAAACAGGCAAAGAATAAAAAAATTTCTGGGGAAACTTCTCGTGACAAAAATCAGTTTAAATATGAGACAAATCAAGTATTAACAGATAAAGCAGATGACAATAGTATTATTGGGCAATGCTATACAACTTTATGGTGAGAGGAAGTGATAATCTCAGTAATTGAAAAGCTTTCTGGAAATATACAAAGCACTAAATATCAAGGATGTTTCGTTTAAATAGGCTGTTGGCAGCCTACGGCAGGAGTCCAGAGTGACAAAACGTGCCACCAGGGGGCAGATGAGGACGATGAAGGGTACACCCCACTCCTTCCCAGGTACCCTTAGCCAGGGGTCCTCAAATTTGGTAATTTATGGACCCAAGAGAAGGTATGTACACACTCCCAATGTTATTATTGCCTTAAACAATAATAGAAGAATTTGGGGGTAAAGTTTCAGTGATTTTCTGGACACTTAAGGGATGTTGTTATTCCCAGGAAACTCTTTTCAAAACAGTCAGATTTTTAAGGGTGCTTGATGATACAGTAGCCCCCCCCACCTTACCTGCAGGGGATACATTCCAAAACTCTCGATGCCCGAACCTGGAGACAGCACCAAACCTTATATATACCATGTATCCCTTTCATTCTCCTTCTTCACAATTTCACAGATAGTTTTGTTTTTGCCATATATCTT
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Task1_train_20439
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Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Angelman syndrome
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AACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATTGTCTTCTTTTTCCACTAAATTAAATTATGGTGAAAAGTGCCACAGTTTTATTTAGCATTATGGTACATAACAAACAGTTCTGTCTCAATTATGAAAAAAATTAATTAAAATAATCCTGAAAGACATCCTTTTTCTCCCCCCAATGATTTGAAAGCTGCATTTTTCCTGCCAATTTCAAACAAACAAATCATCAGGTTGATCTACAGTAATCAGTTAAAACAATCAGTCAATCAATCAATCAATCACCAAGGCACAAGCTCAGCACATTAGCTATAGCTTGTAGCAAAAGGATATATCAATGTCTCACCTTAGTTAAAAATACATAATCCTTTTATTTTATAATGCAATAAAAGAAATTAACAACATCACATACACAGAAGACTAGGAAAGGGGAAACTACTTACTTCTGGAAATCAGTAATGTAAACCTACTTGTACTTTTCCATAGTACATGAAAGTAACGTTTAACATGTTTTGAATTAATTAATTAAATTTAATCTGTGGGGCTATACAATGTAATTCTTAGGAGTAATAGTTTCATTCATTTCCAGGTCAGCTTACTGTATGATTAAGTAACACAAGGCACAGTAGCCATCTTTTTCATTATGTTGCAACACTGATCACGTGCCTCGATAAAATGGCTGATTCAACAAGATGATGGCAACACGAAGGGGAGACTTTGGATTGTCTATTTAAAATCTAGGTAATAAGTAAGTAATTAATAAAAACTCTATCTTAAGTGCACTTTCACATGCTTTTTGTTTATAATAAACAAACAACAAACTTCCTAACTTTGTTGCAATAGGCTTGACTACCATTTCATTTGGCCAAATGCACTTTCCCCAGTAAACTTAAAACAACAACGAGAACAACAAGAACAAAAATCCCTGTCCTTTCATATACTAAGAAAGAGGATTGGCTACTGAAACAGTTCATTGCAAGACACATGAAGACGACATACTGTGGCATGAGTTGTTTTTGTTTTTAATTTGTTGTGCTGTTACTAAAGTTCTGAGGGCTGCAGTTAAAACATTCCAATTTCTCCCTTCCTTCCATCTTTCTTTATTGATTGATTCTCAAGATTTTGCACAGAAAACTCTTTGGGGGCTAGAACAGCAGTAATTGCATCACACTGTTTTCAAGACTTCAAGTTTCAAAAGCAAATCATTAAAAAAAATACAGTTCCTGATTTGAGTTAGATACAGGGACAAAAAAGTAGCACATACTTGAAGGTTACGTGGTCTACAAATGGTGGCAATATTTTCCTTGGGAGAGTAGTTCTGTTGGTATATATTTTTTAAATACTCAAAAGGCTCAACCTCAAGCAGTAATAAACACAAGCAAAAGTGATTTAACCCTTAAAATAAATATTCAGAAAAACCTCTCTGTACATACAAGTGAAAGAATATGTAACACTTTCACGCAAAAAAATAATTATAATAATAATAAAGGATTTGTTCATATATGTAGCTGAAATCTGCTGTTCCAGCCCACATGTCCCCAATAAAGAAGGGAGGCACAGACATAGGTGACTACTGTGGTTGACTATCTTACAGCCTTTTTGTACTGGGACACTATCACCACCAAAAATTTATCCCTCGTTATATTTTTAAAATTTTTTAAATTTTTTCTTTTTTTTTCCTTCCTTTTTTTTGTTTTATTTTGTTTTGTTTTGTTTTACAGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTAAAGCAAGTATGAGATGTAGGTAACCTAAATAGAGAAAAGGGGAAAAAAACAGGAAAACTGTAAGTCATGGGAAATACACTTAGAATTAAATGCTCCTATTTTTAGATTGTATATAGTTGAGACGGTCTGCAATGCAAACTATACATTAATGCAAATCATAAACTTTTTGTTGTGTAACTACCAAGTTGCCTTTATCCTATAAATTACTCAAAGCTAGTGACGATGATAAGATACTGTATCCATTGAGTTTTTACTACATAACAGATACCATTTTAGGTACTGAATTCTTACAGTTCATTTAACTAAATCTTTCCACAACAAAACCACAGAGAGGACATCAGTAAATGCACTTTAGAGGTTAGGTCACTGAGAAGTCAAGTAACTTCCTCTAAGGTGGAGAAAATACTCAAACCTGTTTTACAAGACTGCAAAGTGTGTGCTCTTAAATGCTTATTAGAAACACTGCTGGCAATATGACTAAGAAAATGATTTGATAACAGGATTCTAGCACAATCAAATGATAATCTTCCGAGCCTCAATGTAACCATTCTAAATAGATGATCATGTTATATGGCTTTCAATTAACAAGCTGGGAATCAAAAAAGTAAATGAATCACACTAATTTGATTCCAAACCAATGTGAGCCCCATAATAATTTTTAACTAGGGCAATTTCTTAAAAGTTTCCTCACACAATGACAGCAAAGTATTTTCTCAATTGTCTAATATGATTTGGGGATTTGTATATAAAATCACGAATGTGCTCAGAAACTATAAAGACAGTTCATATGTATGTGACGAGGAATGCAAGGTTTTCGGTAGGTATACAGTCACAAGTTAATAATTACCTACCTTTCTGTGTCTGGGCCATTTTTGGCTATAATCATCTTTAATTTTCCTAGTCCTCCCACAGGTGCTCTGTCTGTGCCCGTTGTAAACTGCAAGAAGAGTCTTTTCTGTTCATCTGTAAATGAATGAACGATTTCCCAGAACTCCCTAATGAGAAAAAATACAATACTGGTTTCAGTTTGGCATTCATTATGACTGGTACTAACATAAGCTTATGATTTGCATTAAAACTATATTAAGAGACAACTTGGAAGTTAATTATCAGGATAGTATCACTTCTGGTGATTTAAAAATTTCCAAGCAAATTTATCCTGAACAGCTCTGAATACGTAAAAATTTAGATTAGATTACAATATAGTAAAATATTAGTACTACAATAGTAAAAAATTGAGAAAACCCAAGTGTGTAGTAACAGGAAGTGACTATTTAAACTATGGTATAATCACATTATGCAGTCAGTAATGAGCAAAAGACAAAATCCTATGAATTGAAAAAGACTGAAATGAATATTTGGAAAAATTAACTCCAGGTGCCTTTGGGTATATATTTTATTTATCCTTTCTCCTTTATTCTCCTGGTCTACTCATCCTTTAACTCAACTTTGGGAGGAAAAAGTGATACAGATTAAGGACAAAAGAAAAAAAGACCCCCTGCCCCAACCAACTGGCCCCAAATGCAAACAACTACATACCTAATAGCAGTAATACAAAAGTTCAATTTTTATATGAACTAGAATACTTTAAACAAGTAATATGTGCTGTGTATGGAGGAGGAGAATTATTCTGACATTTCTGCCACCTGCAGTTATTTTAAGAGAATGATTTATCCTGTGGCATTCCTAAAATCTATGTAATAAAAGCTATGTTTTAATGACACTTATGTTAGTTTGAGTTCTAAAAAACGAAATACAAGCTCATAAAGTGCAATCTTGAAGTTTATTTGAATAATCAGGCATCTATAAAACATATATACACTAGTTCATAGCTAAATAAATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCTGGGTTCGCGCCATTGTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTATAGGTGCCTGCCACCACGCCTGGCTAATTTTCTGTACGTTTAAGTAGAG
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AACTTGTCATATGGATACGTTATTACAATTGTAGAACTTTAATAAATACCATAATAATAAAACTTGAGAACTGAAGAGCACACATTTCTTCACGAATTTATTATATAAAACGCCCTCAGAGTATTTAATTTCTCCTCACTTTAATTACACATTAAGAAGCACAGTGGATGAGAAGCCTTTAAGATGACTACAGTTGCACGAAGGTCCCTTTCATCAAGGTAGCGTATGTACCCTAACAGTGTTCTAAAGGCTGGCCCAGAAAAACCCCATGTTACCTTATCACAATATGGAAAGCATTGTCTTCTTTTTCCACTAAATTAAATTATGGTGAAAAGTGCCACAGTTTTATTTAGCATTATGGTACATAACAAACAGTTCTGTCTCAATTATGAAAAAAATTAATTAAAATAATCCTGAAAGACATCCTTTTTCTCCCCCCAATGATTTGAAAGCTGCATTTTTCCTGCCAATTTCAAACAAACAAATCATCAGGTTGATCTACAGTAATCAGTTAAAACAATCAGTCAATCAATCAATCAATCACCAAGGCACAAGCTCAGCACATTAGCTATAGCTTGTAGCAAAAGGATATATCAATGTCTCACCTTAGTTAAAAATACATAATCCTTTTATTTTATAATGCAATAAAAGAAATTAACAACATCACATACACAGAAGACTAGGAAAGGGGAAACTACTTACTTCTGGAAATCAGTAATGTAAACCTACTTGTACTTTTCCATAGTACATGAAAGTAACGTTTAACATGTTTTGAATTAATTAATTAAATTTAATCTGTGGGGCTATACAATGTAATTCTTAGGAGTAATAGTTTCATTCATTTCCAGGTCAGCTTACTGTATGATTAAGTAACACAAGGCACAGTAGCCATCTTTTTCATTATGTTGCAACACTGATCACGTGCCTCGATAAAATGGCTGATTCAACAAGATGATGGCAACACGAAGGGGAGACTTTGGATTGTCTATTTAAAATCTAGGTAATAAGTAAGTAATTAATAAAAACTCTATCTTAAGTGCACTTTCACATGCTTTTTGTTTATAATAAACAAACAACAAACTTCCTAACTTTGTTGCAATAGGCTTGACTACCATTTCATTTGGCCAAATGCACTTTCCCCAGTAAACTTAAAACAACAACGAGAACAACAAGAACAAAAATCCCTGTCCTTTCATATACTAAGAAAGAGGATTGGCTACTGAAACAGTTCATTGCAAGACACATGAAGACGACATACTGTGGCATGAGTTGTTTTTGTTTTTAATTTGTTGTGCTGTTACTAAAGTTCTGAGGGCTGCAGTTAAAACATTCCAATTTCTCCCTTCCTTCCATCTTTCTTTATTGATTGATTCTCAAGATTTTGCACAGAAAACTCTTTGGGGGCTAGAACAGCAGTAATTGCATCACACTGTTTTCAAGACTTCAAGTTTCAAAAGCAAATCATTAAAAAAAATACAGTTCCTGATTTGAGTTAGATACAGGGACAAAAAAGTAGCACATACTTGAAGGTTACGTGGTCTACAAATGGTGGCAATATTTTCCTTGGGAGAGTAGTTCTGTTGGTATATATTTTTTAAATACTCAAAAGGCTCAACCTCAAGCAGTAATAAACACAAGCAAAAGTGATTTAACCCTTAAAATAAATATTCAGAAAAACCTCTCTGTACATACAAGTGAAAGAATATGTAACACTTTCACGCAAAAAAATAATTATAATAATAATAAAGGATTTGTTCATATATGTAGCTGAAATCTGCTGTTCCAGCCCACATGTCCCCAATAAAGAAGGGAGGCACAGACATAGGTGACTACTGTGGTTGACTATCTTACAGCCTTTTTGTACTGGGACACTATCACCACCAAAAATTTATCCCTCGTTATATTTTTAAAATTTTTTAAATTTTTTCTTTTTTTTTCCTTCCTTTTTTTTGTTTTATTTTGTTTTGTTTTGTTTTACAGCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTGTTCCGGAAGTAAAAGCACATTAAAGCAAGTATGAGATGTAGGTAACCTAAATAGAGAAAAGGGGAAAAAAACAGGAAAACTGTAAGTCATGGGAAATACACTTAGAATTAAATGCTCCTATTTTTAGATTGTATATAGTTGAGACGGTCTGCAATGCAAACTATACATTAATGCAAATCATAAACTTTTTGTTGTGTAACTACCAAGTTGCCTTTATCCTATAAATTACTCAAAGCTAGTGACGATGATAAGATACTGTATCCATTGAGTTTTTACTACATAACAGATACCATTTTAGGTACTGAATTCTTACAGTTCATTTAACTAAATCTTTCCACAACAAAACCACAGAGAGGACATCAGTAAATGCACTTTAGAGGTTAGGTCACTGAGAAGTCAAGTAACTTCCTCTAAGGTGGAGAAAATACTCAAACCTGTTTTACAAGACTGCAAAGTGTGTGCTCTTAAATGCTTATTAGAAACACTGCTGGCAATATGACTAAGAAAATGATTTGATAACAGGATTCTAGCACAATCAAATGATAATCTTCCGAGCCTCAATGTAACCATTCTAAATAGATGATCATGTTATATGGCTTTCAATTAACAAGCTGGGAATCAAAAAAGTAAATGAATCACACTAATTTGATTCCAAACCAATGTGAGCCCCATAATAATTTTTAACTAGGGCAATTTCTTAAAAGTTTCCTCACACAATGACAGCAAAGTATTTTCTCAATTGTCTAATATGATTTGGGGATTTGTATATAAAATCACGAATGTGCTCAGAAACTATAAAGACAGTTCATATGTATGTGACGAGGAATGCAAGGTTTTCGGTAGGTATACAGTCACAAGTTAATAATTACCTACCTTTCTGTGTCTGGGCCATTTTTGGCTATAATCATCTTTAATTTTCCTAGTCCTCCCACAGGTGCTCTGTCTGTGCCCGTTGTAAACTGCAAGAAGAGTCTTTTCTGTTCATCTGTAAATGAATGAACGATTTCCCAGAACTCCCTAATGAGAAAAAATACAATACTGGTTTCAGTTTGGCATTCATTATGACTGGTACTAACATAAGCTTATGATTTGCATTAAAACTATATTAAGAGACAACTTGGAAGTTAATTATCAGGATAGTATCACTTCTGGTGATTTAAAAATTTCCAAGCAAATTTATCCTGAACAGCTCTGAATACGTAAAAATTTAGATTAGATTACAATATAGTAAAATATTAGTACTACAATAGTAAAAAATTGAGAAAACCCAAGTGTGTAGTAACAGGAAGTGACTATTTAAACTATGGTATAATCACATTATGCAGTCAGTAATGAGCAAAAGACAAAATCCTATGAATTGAAAAAGACTGAAATGAATATTTGGAAAAATTAACTCCAGGTGCCTTTGGGTATATATTTTATTTATCCTTTCTCCTTTATTCTCCTGGTCTACTCATCCTTTAACTCAACTTTGGGAGGAAAAAGTGATACAGATTAAGGACAAAAGAAAAAAAGACCCCCTGCCCCAACCAACTGGCCCCAAATGCAAACAACTACATACCTAATAGCAGTAATACAAAAGTTCAATTTTTATATGAACTAGAATACTTTAAACAAGTAATATGTGCTGTGTATGGAGGAGGAGAATTATTCTGACATTTCTGCCACCTGCAGTTATTTTAAGAGAATGATTTATCCTGTGGCATTCCTAAAATCTATGTAATAAAAGCTATGTTTTAATGACACTTATGTTAGTTTGAGTTCTAAAAAACGAAATACAAGCTCATAAAGTGCAATCTTGAAGTTTATTTGAATAATCAGGCATCTATAAAACATATATACACTAGTTCATAGCTAAATAAATTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCTCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATTGCAAGCTCCGCCTCCTGGGTTCGCGCCATTGTCCTGCCTCAGCCTCCCAAGTGGCTGGGACTATAGGTGCCTGCCACCACGCCTGGCTAATTTTCTGTACGTTTAAGTAGAG
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Task1_train_20440
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An alteration has been detected in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Global developmental delay
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20441
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Assess the clinical impact of this variant on gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A), found on Chromosome 15. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Poor speech
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20442
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A genomic change on Chromosome 15 affects SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; EEG abnormality
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20443
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An alteration has been detected in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; Abnormal corpus callosum morphology
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20444
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This mutation is located in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; Expressive language delay
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20445
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Here is a genetic alteration in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Seizure
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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GTAACAGCATTGTCTAAAAATAAGTACATTATCTTAATTTAAAATCATTGCTAAAAATGCTAATGAAGTGAGCACATTTTGTTGGAAAAATGGTGCTGGTAGACCTGCTTGATGCAGGGTTGCCACCAAAAAAACTCAGTATCTGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCTACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAG
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Task1_train_20446
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This variant affects gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Angelman syndrome
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TGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTT
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TGCAAAGTGCAATAAAGTGAGATACGCCTGTAATGTCTTTTTTCTCTTCTGTTATTACAAGCACTACTTTAAGTCTTCAACTACCGAATACTTGTAGACTATTTAATGAATTAATATTTTCATCATATTTATATTGAGAAAATTAAGAAGCTGAATTTAGTTAGAAAAGGTTTAGAATATCATCAACTCTTGAGGATGAGTTGGAAGCTACTTTATCTGTCATTTTTCACATAACACTAGTTTGCCCTTCAAATCATACATTTAAAAATGATCTTAAGATACATACCAAGTAGGGATTATGTTGTTATAAAAAGCTAGAAGTAAAATTAAGACTTTAATTTCAAAGATAATTTCTCTATAAAGAATAGCACAAGATATGTTCAACTATTCTCAGAGATGCATCAAGATATGACTTTTTTTCCTACTAGAAATTATATCTATGATCAATCATATTACAGAGATATTGCTGTTATACTCCTTGTGACTGATGAGGGGGGTTTTTCCTATCACCATGTTATCCCAACCCTTTAATGAATCACCTTTGAAACTCAGAACAGGTAGCAGCACAGAGGTTGCTAAGAGTAAATACATTCACCACTGCTGCCAGAAATGACCAACGGTGCACCAGAAAGAAGAAATACTGGTGAATTCCCACATACCACGACGAACAACCTTATAAAATAACAGAACAAATGAATATAAAGTAACATACAGCCATCCCTTGGTATATGTGACAGGGATTGGTTCCAGGACCACGTGTGTATACCAAAATCCATGCACGCTCAAGTTCTGCAGTTGGCCCTGTGAAACTGGCATGTATGAAAGTCAGCCCTCTGTATATGCAGGTTCTGAGTCCCACCAATACTGAATCTGCTCTTAGTTGAGAAAAAAAATCTGCATGTCAGAGGGCCCATGAAGTTCACAGCTGTGTTGTTCAAGGGTCAACTGTAATATAAAAATAACATTTATTGCTAGATAGAGTTGATATTCATTCTAGTGTTTATATACTTGAGTCTTAGAGCAATAGCCTTTGGAGACAACTTCCAGGAAGGTACGTGTTTGCATGCCTTCTCACTGCAATCCATCAGTAGCTGCCACTTGAACCAGTCTTAGCAGGGGATGGGGAAGCCTATGTCTTTCAGAATTGGATGATGTAGTACACAGAAGTAGACAGTAGAGTAGTAAGGGCATTTGCTTAAAAGCAGATAGAACTGGGAACCTCTACATCTTTCTGTGAGAATTCAGGGCTTAGTTTTTTAGGGTGTAAAATGGAAATACTAGTATGTATCTGGACATATTATCTTAAGAATTAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACACATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTT
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Task1_train_20447
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This variant affects the gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Angelman syndrome
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TAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTCAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGG
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TAAATAAAAGACTACCATTTCACTCAAAAAGTGCTTGATCCTGGGAAGCCATGTAACAGTTCACAAATGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAATGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTCAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGG
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Task1_train_20448
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Here is a genetic alteration in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Angelman syndrome
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TGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTCAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGGACTACAGGCGCCTGCGTGGAGGCCTTTTTTATATCACTCATTGGAAAATTGGGGCCCGGTGTGGTAG
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TGCAGAGTTCAAAAGAAAGGAAAAATTGCAGACATGGTAGCCTTATTTTAATTATCTTCTAACCAGCAGTAAGCATACTCTAACCAGTGAGGAATACTAGATAATCCATACGCCAAATGCAGGAGATTACATGAGACTTATATATAACAACACTTCATTCATGAAATAAATCACAAGATTAGCTCTGAAAAATGGTGATTATATTACAAATACAAATCTAAGTATATAGATGACAATTTGTGAGTTTGCTTATTTGGGAATTAGTACCTAGAGATAAAGGTCTGAAGCAAAATCACACACCCCTTTGGTGAATCAAATCTTCCTCTGAAGAACTAAGTACCTCACCTAATCAGAACAGAGTCCCTGGTATAGCCACCGTCATATTCTGTAGTTTCTTCTAGTGCTTGGAAATCTAGATTCTGCAAATTCAAGAAAATATGTCTTAGTTATCTGCTATACTACTGTATCATTACAAACAATAAATCGATACATGACTTTTTGCAGACACCTGCTTTCTTACCCGGCTTCCACATATAAGCAATTCAATTTCTTCTGGTCTGAATAAGTACTTTAAGGGAGATTCATTGGTCACCATATGAAAACCTCTCCGAAAAGCCTTGAACTGTTTTTCTACTGATTTATTGAGAATGTAGTCAGAATAAAGATTGACAAATTCCTGTAGAAAACATTAATCACAAGAACTTCTTATAATATGCTATGCAAACAAAACACAAGTTATTGGGCTGCATAGCTTTTTAATTTTTCCAAGAAAAAAACATTCAAGAATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAAGCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTCAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGGACTACAGGCGCCTGCGTGGAGGCCTTTTTTATATCACTCATTGGAAAATTGGGGCCCGGTGTGGTAG
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Task1_train_20449
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Gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Angelman syndrome
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AATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTCAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGGACTACAGGCGCCTGCGTGGAGGCCTTTTTTATATCACTCATTGGAAAATTGGGGCCCGGTGTGGTAGTTCACACCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAAGATGGAGAAACCCCATCTCTACAAAAACACAAAAAATAAGCTGGGTGTGGTAGCATGTGCCTATAGTCTCAGCTACTTGAGAGGGTGATGCATGGGGATGGTTTGAGTCTTCAGCCTGGGAGGTGGAGGTTGCAGTGAGCCGAGACAGAACCACTACACTCCAGCCTGGGCCTCAGAGCCAGATCCTGCCTCCCTCCACCAAAAAATAAAAGATTAAAAAAAAGGAAAATTGGAATCTTTGGAATGAGTACTACTAAAAATTGATTTCTTCCCTTTTAAATGACTAAGGAAAAAAATTTTAATTGAATTTAAATCATTTTACTACATGTTTAGTTGCTACTGTGAAACAATGAAAACATCTTAAGAATTAAGTCTGAAAAAAATCTGTAATTTCCAATAGAAAAGTAGAGCTTAGAAATCAGAAATCAAATTATACAGTATATAAGTATTTTAACCTGTTTATAAGAATTTTAAAATCTTTGAAAATGTCATTGTCACTTTAAGTTTAAAAATAAGGAGCTTTAACATGTTTCCTTGATCACTAGGAGTATGAATTAAGCTTAGGACATTTTCTGAATGCAAAATGGTTTGAAAATTAAACAATTCATATTTGAGTTTCATGGTTTCTATCTAAACATTTTTTTTACAGGCCAAGTTACAACATCCATGGAAATGCTTTTAGTTATAAGTATGGTATTAAC
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AATATTCTTAAAAATTCAATTTTACACCTACTTCTTAACAATTTCACAATTCTCTGTTATAGCCAATATTAAGCTATGAAAAGGCCATATACATAAAACTGTCAAGAATATTCTTAAAAATTCAATTTTACACCTACAAAGAAAACTACTTCTTACAATTTCACAATTCTCTGTTACAGCCAATATTAAGCTATGAAAAGGCCATATACACAAAACTGTCATACTTATAAATGTCAATTTCGATAATGTATTAAACAGAACTGAATATAAATGCTGGAGACGCAGAAAATTCTTTAGGTTCTCTCAACTAGGTATGTAAACAGACACATTTAAACCATGTATCCATCTATTTATAAATGCCAACCGTTTTAAGAGAGTACAATATATTTGATTTAAGCAAACCAGGAAGTCCCAAGTTTTCTACCATAGAATATTTGGTAAGCTGCCTACTGTATCCAGTTCAGCAAAAATGTGGAAGTACTGACTGACACATAAACTACTGTATCAAATCATAAAAGGAAAATGTGCTTTGTACCCTTAGTGTGTATAATATTTAATCAAAAAATTATATCAATATAAACATGTTTCTTAAAGGTATACTATATATTTGTCATAATTTTTTGCTTGTTATGTTCTGGGTTATTCCCATTCCCGATGAACACATTTTAGTCAATAGAAACCCAAATCTGACGTAAAGTATACTTTTCAGAAATGTATTTTTATCACAAACAGGATATACATGTGTAAATTAAATGTAATTTTTATTTGTTCTGTGATAAAGACCTTAATCATGAGGTTCCTGCTTACAGCTTAATACAAGAAACACCCTGCTTCTTGCTTTATACTACAACCACACTTAGCTATTAACTATCTCCTGCTTCATGTCCTCTTTCTCTAAAAGGGGCTTTAGTGCCCAACTGTGTGCTTTCATACCAACTTATATCCAAGATTTAGAAAAGTGGACTCTAGCATTTACATAAACTTAGTTACTTGTTTTTTTTTTGTACAGACTATATTAGATACTTCTTTAAAAATTATAAGCATACATGCTTTGAAAGTGTTAATGAAGAGACAAAATGTGACATAAAAACATTTATTACCTTCCTGTTTTCATTTGTAATTGGAATTTTATCACCATTTTCCTTTAGATCATACATCATTGGGTTACCAAAAAGATCTGTCTGTGATATCTGGAAAGTGATCATCATGTCATCTTCCACATTCCCTTCATACTCCAATAAATCTTTTAAACTCTGATATAGAACCTAGCAACCAGAAATGGTAAATTGAGGCCACCATAGAACTACAAAATACAACAAATAATTTATATCACTCTTCTTAGAAGACAACAAAAATCTTATCAATAAAAATTGTAAAAAGTGTAGACAGTATCCCTCCAGTCCCCCAAATAGTTTCCAACCTATAAAAGAAAGATTGTCAGTCACTGTGATGTCCCATTCTCTGCTGAGAAACCCCATACCACCAATTTAGCAATAGAATTCACACTGTGCTCTATGAGAAATTCTGTGGTGTCTCAAGGTGGGGGTGGGGGTGGTAGGAGCAGGCACACTCGTTGTAACTACCAAGACCCTTAGCCAGGGCTACTCTGATTTTTACCTATCTCTTAAGATTTCACTAAAACACAAACAAAATGTTTAGAAACACTTCTCTATGAAATCAATCTTACAAAAGCTTCGTGCTGACAGCAATATATAAAAATGTCCCCCTTTGAGTTTTTAAGTGTTTCTGGTACTTCGGTCAGATTAAAACATTTTTATCTTATTGATAAGAGTATCAACAAAGATTCTAAACAAAAACTTTAAAATTTTGACATAAATTAAATTTTTGCATTTAAATAAAATCTAAGAGACTGAATTAAAAAAATGACAAAGAACTTACTGGGTGAGAGTCTCCCAAGTCACGAAAAGTTCCTTTTTTCCCCATTAGCTTCCTGTAGACAACCATGGGAAAATGTACATCCAGTATACAGTTATTGTAAATAGCCAGACCCAGTACTATGCCAATCAGAGTAAACTGACCCTCAGTTTGAAAAGAAGATGGATTAAACCAAAACAATTTTGTAGATTCATCGTATGTGAACATACCTATAAGAAATGATTTTTAAAAATACATTACTTTTGTATTTTATTAAGGACTGATGAATAATACAAATATAAACTTAAAATAATTATGCATATAAAACATTTAAAATATATGTAATTAGGCATGCAACATTGATTTCTATTATATTAGCACTTGAGAAAACAATGTCCACATATATCTGCTATAAATTGGGGTGAATGGTGATATGTAATTTTATGAAGCCAAAGGAATAAAGTAGTAAGTAATTTGGTGGCATCGGGTAGAAAAATACGTTAATTAAATTCAAGCTTTCTAATTTTCTACTAACACATAAGAAAAGTTATATTCATGCTTTATCCACCCATAGCTGAAAAATAAACATAAAAAAACAAAAAATGGCTACATTTCCAAAGTGTTTCATTTATAAAAATATAATTACTTATATCTGTACCACACGTACTATTTTTGAAAACAATTTTTCATTTTTTTCCTTGAGATGGAGTCTCGCTCTGTTACCCAGGGTGGGCTGGAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAAACAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGACTACAGGTGTGCACCACCACGCCAGCTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGTTTGCCAGGATGGTCTCAACCTCTTGACCTCGTGATCTGCCAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCTGGCCTAAAAAACAATTTTTAATCACAGTAAAGAAAGGTTCGTTTTTTCAAAATTAGACAATGGTGCCATGAAATTTTTCTAGCATTTTCCTAATAAAATCAGATGATCTGAAATACATAAACCTGGATAAATCTGATGAACTTAGATAAACAAAGCTATTCAATACACATGTTAATTATGGGCCAATACGTAAAAGAAAAGTAGTTTCGTAGTCTTTCAATTTCACATGGTCTTCACTATGCAAGCCCCAATCATGGAGGCTTTTTTTTTTTTTTTTTTTTTTGAGACGGTCTCGCTCTGTCGCCCAAGCTGGAGTGCAGCAGCACTCAGCTTAGTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCTGGCCTCAGCCTCCGGAGTAGTTGGGACTACAGGCGCCTGCGTGGAGGCCTTTTTTATATCACTCATTGGAAAATTGGGGCCCGGTGTGGTAGTTCACACCTGTAATCCCAGCACTTTGGGGAGGCTGAGGCAGGCAGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAAGATGGAGAAACCCCATCTCTACAAAAACACAAAAAATAAGCTGGGTGTGGTAGCATGTGCCTATAGTCTCAGCTACTTGAGAGGGTGATGCATGGGGATGGTTTGAGTCTTCAGCCTGGGAGGTGGAGGTTGCAGTGAGCCGAGACAGAACCACTACACTCCAGCCTGGGCCTCAGAGCCAGATCCTGCCTCCCTCCACCAAAAAATAAAAGATTAAAAAAAAGGAAAATTGGAATCTTTGGAATGAGTACTACTAAAAATTGATTTCTTCCCTTTTAAATGACTAAGGAAAAAAATTTTAATTGAATTTAAATCATTTTACTACATGTTTAGTTGCTACTGTGAAACAATGAAAACATCTTAAGAATTAAGTCTGAAAAAAATCTGTAATTTCCAATAGAAAAGTAGAGCTTAGAAATCAGAAATCAAATTATACAGTATATAAGTATTTTAACCTGTTTATAAGAATTTTAAAATCTTTGAAAATGTCATTGTCACTTTAAGTTTAAAAATAAGGAGCTTTAACATGTTTCCTTGATCACTAGGAGTATGAATTAAGCTTAGGACATTTTCTGAATGCAAAATGGTTTGAAAATTAAACAATTCATATTTGAGTTTCATGGTTTCTATCTAAACATTTTTTTTACAGGCCAAGTTACAACATCCATGGAAATGCTTTTAGTTATAAGTATGGTATTAAC
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Task1_train_20450
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This variant affects gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Angelman syndrome
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GTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTCTGCTCCAACAATGGATAGTCATAGACAGACCTCAACATACCTTTCATAAAACATCACTCACATTCTTATAAAATACCCTATCATTCTGCTAAACTATGTAAAGTAAGGTGCTGGCTGCCTTATGATCAGTCATTAAGTGTATTAATTATTCATGTGTCTCAAAACTATGTAAGTGAAATAAAAAGGGTACCAGAAAGCAAGCAATAATAATGACTTCAGGCAGTTAAAGCCCCCTTTTGTCTCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTG
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GTTAATTTTACACTAACACCTAAGGCTTTAAAAGCAGTTGTTTCCTTAAAATTCTAGAATAGAATTTAAAATATAGAATAAAGTATATACCAAGTACTTAAACTTTTGTTTTTAGTCTTGCTTTACTAGAGAAAAAAATGGGGGACTGAGGAAAATAAGACTGAGTAGACTTCTGAGCGAAAGACAGATAAGGAAGGTAGACAATTTTTTGAACCCTGGAATGATTCTTACAGTGTAATTTCATTGCCTTTTAAAGGCTAGACATAGCTTTTGATGAAGACAGCTGAAGGGATCTCACCTCAAGAAGCCAAACATAAAGTATGTAGCTTTGGCATTTGCAGTTCTGCTCCAACAATGGATAGTCATAGACAGACCTCAACATACCTTTCATAAAACATCACTCACATTCTTATAAAATACCCTATCATTCTGCTAAACTATGTAAAGTAAGGTGCTGGCTGCCTTATGATCAGTCATTAAGTGTATTAATTATTCATGTGTCTCAAAACTATGTAAGTGAAATAAAAAGGGTACCAGAAAGCAAGCAATAATAATGACTTCAGGCAGTTAAAGCCCCCTTTTGTCTCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGAGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTG
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Task1_train_20451
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Here is a mutation in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
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Pathogenic; Angelman syndrome
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TCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACT
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TCTGCTAGAAAACCACCTGAGTTGCTTAAATAATGCAGAATCTTTCTCCAACACTATAAACATATCTGACATTAAAAAAAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACCAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACT
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Task1_train_20452
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The following genetic variant occurs in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15. Classify its clinical effect — pathogenic or benign — and list any associated condition.
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Pathogenic; Angelman syndrome
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AAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAAT
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AAAAAAACAAACCAGTAACAAAAAAAAAAAAAACACACAAAATCTCTGCAATTTTTAATTTCTGAGATGTCAAATAACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAGGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAAT
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Task1_train_20453
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Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Angelman syndrome
|
AACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGG
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AACTTTTTCCACCGGGCTACAGCTTTATGAATTCTCGAATTTAGACAATTCTAAAACTAAAATTTAGACATTCTAAAACTAAAATACATTTTAAAGTAAAAATCACATTTCCTAGTTGTCTGTGTCAGACAACTTTACTAGTATACTATAGTATTATTAACTACCTTAATTTTTGTTGACATTAAATTTTACTTGAAGATGATAAAAAAGTAGCAGCAATGACAGGGATAGCTAATACTAGAAATACAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATAACCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGG
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Task1_train_20454
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Mutation context: Chromosome 15, Gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Angelman syndrome
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CAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCT
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CAATAAAGCTCTGCGATAATGCACCTGAGACAAATGTAAATTTTGGTGAAATGTGACTGACGACTGCTTTCTGTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAGTAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCT
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Task1_train_20455
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The gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; Angelman syndrome
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GTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTA
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GTCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTTTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTA
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Task1_train_20456
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Given this variant in gene SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A) on Chromosome 15, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
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Pathogenic; Angelman syndrome
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TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGTTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAA
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TCTTCTGGCCACTCTTATATTCTTAAACAGATACACTAAAATTATCTTGTGGAGGAAAGAAAAGGAACAAATGGCAACCCCATCTGGAAAACCAGGAAGTTAGGATGAGTACCTGAGTTTCCAGTATTTCCCTGCTCAATCTCCCTGGACTTGATGTTACAGGCACCACTAATCCCCAGATTTTTGGAATAGCTGCTGTTTTCCAGAAGTTCCAAGACCCAGAGTTGTCTCTATGAATTTTTAAGTGGGAAGAAACTACCACAGCCAGGCAGTGCCGTCCACACAGGGATATTCTAAGTGGCCCAGCAGGACTCAACTCTTACTGGCAACAGGCACTGATCTGCCATGGTCACTTCATCAAGTCCACAATAATGCAACTCTGAATTTTACACGATGGAATTTTTTGGACACTACCTATAATTTTATGGTATGGTTTTACTGTACCATTACTCCCAGTTCAAGACTGCACATCCACACTTATTATTGGGTATCTCCACATTTCTCTTGTTCTGGTCTTTGTCCAACACTCTATTCTCTTCTGAATGAAAGAAACTTTGGATTTAGTTTTCAAGATTTAGAAAACCCATTCTTTTTCAAAGATAGCATGACCATTATATAATACAACCGATACTTTGTAGAACACATCTATAAACTTGCACAGGAACAACAAAAGTATAATACTTATATAAGATCAGAAATGTCCATGTGTTCCTATGCTATATGGTATCATTTTTTTCAGTCACTTTTAAAATGAATTCACTGAACTGTATCATGATATCCCCATTATTAGGTTTTTAATCTAGCAGCCCAACTTACCCGGACAAGTGCATCATCTATGATATGGTCACGTCTAACTTTGAGTCTCAAATATGGATTCAACTGCTGTCCTTGAACTAAGCTGTAGAGAACAGTGATTCTTCGTTCACTGTACATGCGAATTCTATTGTCATAATATAATCCCAAATTCTTTGTGACAGCATTCAATATAAAGGGACATGTCATAAAAGAGAATTTGTTCTCTGTTTCTACTTTGAAAAAAGTATAATCTTTATCCATTTCTAGAACCTCATTCAGTGGTTCATTAATAAACTCTTCAAAAGGGATAAGTGGTTTTCGACAATCCAGGGTTTTAACACCAAGTTCAGTTTCCAGGGGGTCCACTCGAGGACCTTTCTTGTTTCTTCTTTCTTCTCCCAAAAGTTCCTGAAGTGTCAGCTCGCTGGACTCAGGGATGGGCTCTTCATCATCTTCTTCATTGTGATTTGTGTCCACTTCCCCTCCCACTACATTTGCATAGTAAACCATTTTCAAGCACTTCGAAGCAGCAACAATGGCATCATCATCATTCACTAGATTTCGACTGTTAAATTCATTGCTTATGACTTTATAAGTAATAAGTTGCTGAAATGTCTCCATCATTCTCCGAATCTGGTCTGCATTGTATTTAGACCACAGTCTGATCAGTTTTCCTTGGGCTGCAAGGGGTAGCTTGCTCATCGCTTTGCAAAATAATGGCAAAGCCATTTCCAGATATTCAGGACTGTGGAGATTTCTATTCTCCATTACGATAATGAACAAATTCAGATAATTAGGATCTCGAGAGTATACATTGTGATACGTCAAGTCACATTCCACGTTAGGTGACAAATATACAAGTGCATTGAGAAAGGCAGTTTCAATTTTTTCATTAGAGAGCAATCTGGTGTAGACCCTTCTAATGGCATCAATATCCACAGACACATCATCAGGGCCTAATTTTTGCAAATTGTTGTCTCCCTGTGAGCTATCACCTATCCTTGAGGAAGATGCTTCTGAGTCTTCTTCCATAGCAGCAGCAGAACATGCAGCTTTTTCCTTTTCATCTTCATCTTTGTCTTCATCTTTTGCTTGAAGAGATTTCAGTTCTTCCTTGGTGTGTTGTTTAACTTTCCGGAAGCTCTGTACCAATGCCTCAGCACTAGAAAAAACTCTTCCAATAACACGGATTAAAGGGGAATAATCCTCTCTTTCTCTACATAATTCAAGAATTTCATATACCTTCTCTTCTGGTAAGTAAGTCACATCTAGAAAATCAGAGGAAAAAAGAGAACATTTATTTTCATAATATGTATGTTTACTCTGTTGCAAAAAGTTCTAAAAGTAAAACAGCCAAACATTCTAGGCTCAATATCATTTATGATATACAACTCTTAAAGTATCTAATACTTAGATTCAGCAAACAAAATTTAATGCTTACCTATTTTTTTCAATGAACTACCTACCTATACCAATGACCTCACCCATGCTTTTACATTCTTTCAACAATGTATAACTCTTAATAAGATCATGAGTTTAAACTTTCTTTATAATCAAGATATCTATTAATGTATAGCTTTAATTATAAATATGAACCAATATGTCATGTACTGATTAATCATAATACAGCTCTTAAAACCTCACTGTAGAACACACAGAAATACTACTAATCTGTGAGTTTTCTTGTTTCAGTACTCTGTTCTCCAAAGACTAAGAAGGCAAGGTCTTAAAAAAAGGCTCCTTCAGCATCTATGTATGTATTAAAATCAAACTGGTTCATTTTGGGTCTTCCTAGTTTGTTCCAGGGTAGTCATTCTGTGAGTGATTGAGAAGAATATACCATTTCTCATCGGCTCTTAAGTAGAAACTGCTTTCCACAGCCAGGAATCAGGTTAGACTAAATCTCATAGAGTGACAGAAAATAGTTTTTGAGCAATGAAAACAAACAGTGCAAAGAAGTAAACTTATGAGCTGGCAAGCAGTGCAGAGACTATGTAGTCATCAAAATCTATTTCCTCTTTTCCTGGGCACAGAGTTGGACCACATTTCCCAACTTTTTGAGATAAGTGTTATTTTCAGGCCAAGGCTTTCTCCCTTCTGGCTAATAGGATGAAAGATATTTCATTTCACAGGTAAAAACAAATGATATATTTTGTGTACTGACCAACATAATACTGAGAATAGTCTTAATTCTCCCTTTTATCAATAAAGTGACATACTTGTCATCATCAGATTAACTACTTGAGAGGTTAATTTTAGAGGCACACAGACAATCCTACCTCCATTGCGCCAAATATACCCTTATACATGTAGTGTACAACATGTAGAATTTTTAATGACTCCCACCTCTGCTATAATATATGTTTCACAATGAAAGACAATATAAAATGTAAGTGATCATTGAATGGTCTCCAAAAATTGAAGCACAAAAATACCAAATTTTATCATACTAAGGATCTGATCTGTGGCCCAGCTACAAGAGTACCAACACTTACAGTTTCTTTTATGGGCCTTAACTCTTTAAGAACTAATTCTCAGGTTTGTTCTATTAAGAATATATAAGCATCTTTTGCTAAACATCAGTAACCTCTTCCCCAAAAGCATAAAACCACTGGAAACCTATTTCTCATTATTTTCATTGAAAATTTTTAAAATACCTTCTTACAAGACAATGCAAAACTCCTAATTTCCTAAAATGTAACATAACAGAAAATACTACTATCCTATTAGGACATGAAACACTTTGCTTCCTGAGCAAGTCATAAGGTTAACAAAGACTTGCTTTGCATGCAGTAATATGGCCTGTCCTAGGGATCACCATTCTAGACTCACATGTCCTTTGTTGATATGTCATGCTTTCGGAACATCTTCAAGTGATTCTGACAGTCTACTAATCCTATATAGAATGTACCTATACTTTTTCCAAGGAGTGTTTTTTGTTGTTGTTTTTTGACATGGAGTCTCACTCTGTTGCCAGGTTGGAATGCAGTGGCACCATTTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAACGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGACTACAGATGCACGCCACCACAACTGGCTAATTTTTTTGTATTTTTAGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAA
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Task1_train_20457
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A variant has been detected on Chromosome 15 in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Angelman syndrome
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AGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAATTAGATATGAACATTCAAAAAGTTTGGTTTATTGATACAGGTGTTCTACTGAGAAAGACATTTTTATAAGATTTCTTGTGATAAATGTGTCCCTGAAAATACTCAATCTTTTAAATTTTGCACTTAAAAACCTCCTACGCAAAAACAGTTTGGTGCAGACTACTTAATACTTATGCAACTTTGTAATTAGTGTTAACAAACATAATTAATAATCAAAATAAGAGTACTAGTGTACAGAAAGCATCTCTAATTTCCAATATACAATAGTAACTATAGAACAATGCAAAAACAAAAACAAAAAAACCAGTAACGAACAGGGAACAGTAACAGTAGCATATTAGAAAACAGGGATAAGGAAAGGTCACAACTGCTATAATGCAGACTTGAGCAAAAAGAGGAGGGGGCATAAAGACTGGATAAAGCCACACAATAAGCACCTCTAAGATGGAGCACGTGGCCAAAAGAGCAGATGAGCACATTCCTCATGTACCACATCCCCCGCAGCTGGCTGCATTCCACTGTGCCAGCACTCTACATTCAGTTACTGGTACTCTCTGGTGCACACTTACTGGAGAACTGTGTACAATAAAGTCAATGCAGCTTCCACATTATACTGACACACTATATATACAGACAACATTTACCTATTTTCCCATAGTGTGTGAACTAATTCATGAAACAGAATTATACACTCTGAAGCAACAAAGTTGTGTAAAGTGACGAAAATAATTTTATTGTGGAAACAGAGTAGAGGTTATAACACAATGCCACTTCACTAATTCTTTCAAACTTGATTCAAATGATGTTAGTGAAAGTTTTAGAGGCAAATGCCTCTAAAATTCTCTGACTTGTATGTCATAAAAAAAAAGCTTTCTCTCTTAAAATACAATTGCCTCTGGGTGTGTGTAGGGGTGAGAGTGGAGGGGCGCTAAGCCCTGGTAGTCATTCAAAAATTTGATTACTTTGTTACTAATTACCTTCACTGAAGAAAATAACTTGGAGTTTTAGTATTAGCGACAAGGTAATCGAATTCTGAATTTTGGACGTAGGACCATTTAGAAAACAAAAGACCTGAGTGAAGACTGTCATTGGTAGGTCATGATCCTTGGCAGCATGACTGTACCAAATGTCCGGAAGGAGAGTGAGAAGCATATATCTGAAGGAAACGTAGAATTCTCACATAACTATCACAAAATTTTGTCTTGCCTTCAAAAATGGAAAAAACCCACTGTTTCCTCTTTCTGCTTCTTTCATCACATCATCCTGAGGTTCCAGAACTCATGCCAGATACTTAGTCCAGTTATTCTATAACTTAAATAGATGTTGTGGCCTAGTTTTGGAGATTCACTACCACTTAATACATTTTTCCTAAGAATTTTAAAAAGTTCAAATCAATCTATTAACAAATGAACTTTTGGCATATGATCTGCTTCTAATTAGCAATGATTAGACCTGTAAAATGTAGTTATTATTCCTGTCCGTTACCACAATAAAAAATTGGTTCTACGATATCAAAATGTCTTTATGTCACAGAAGAAAAAACAAATAAAAACTAATACATTTAAATCTCCCACATGGTTTTCAGGCAACAATTCTCAATTGAAAATAAAACATCTTACCTTTAAAATCAATTCTAGCGCCTTTCTTGTTCATTTTTATCTCAGAGCAGGAGTTGTTGGGGGCACCTTTCGAGTTCTCAAGGTAAGCTGAGCTTGCTCCTTTCTTGGAGGGATGAGGATCACAGAGTTTTGCATTAATCTTATAAAGCTCGAGGGCTTTAATAGCTGCTGCATTATTATCCATACGAAGAAAAGTTGGACAGGAAGCACAAAACTCATTCGTGCAGGCTTCATTTCCACAGCCCTCAGTTAACTGGTGGTAGTAGCGTTCTATTAGATGCTTTGCAGCTGCTCGCTTCCTGTACCAAACATTCAAACAATAAGCACAGTGATTAGTACAGCTCTCAAGTACAAAGCTCAACATATCATCAAGGCAAAAGTTAGTCAAGCACTGAAGTGATTAACCTGTGTATGAAGATGAGAAGTAGAAAATGGAGATGCACTATTTACCACAACTCCTGACTAGTGAAATAGTTAATAAATATTTTCTAGGATATTATGATAAAGAATGTCAATGCTTACTGACTGTATTAACAGAGTATACATTCCTTTGGTTTAAAAGGGGGGAGGGGGGCTTGTCTGATGGTATATGTGCTTAAGTTGTTTAGTACAACAGCTGAAAAATCACAAGGTTTACAGCTAAGAGTTGTAGGATTCTATCATTTTAAAAATTAGCATTAGGAAAATGAGTCTATTTAAAGCATCAATCCGGTTTTCTTTTACATAATCAGTATTTCATTTTTAACAGCTTGTAAACATTTGACTTATAGTTAACACAGAATATCTATCTGGAATAAAAACTATTTTTCCCAATTATCAACAACATGGGAGACTTAAAAATAAATTTGTAAGTGGAATATCCAAAGATAGTGTTACACTGAAAGAAAGCGGCTGCAGCCTGAGTGAGGCAGATCATGACTGTAATCAATCCCATAACTGTGGGAGGCTGAGGCAGGCCGACTACTTGAGCCCAGGAGGTCAACACCAGCCTGGGCAACATAGTGAGGCTACTCTCTACAAACTTTTTTAAAAAAAATTAGCCAAGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGATCACTTGAGCCTGAGAGTCAAGGCTGCCATAAGCTGAAATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTTTGTCTCAAAAACAAACAAACAAACAAAAACCAAAAAGAAAAAGAAAAAGAGGCTCCAAAGTGTAGAATCTTAAATCTAAAACTTGTCACTAAACCTCCTCATTAGTTCCACGTCACAAGATGGAATATTTTAAGTTCCATCACGTGAAATCTTATATTCCTTTTACTCTGTCAACTTAAAGTACACAGATTAATGTCCTATTATGGCTGTTTCAGGAGAGCTACCAAAACTGAGGGAGGAATTATGTGACCATGTAAGAAGTTAGATGACATTATATTCAACACTAAAGAGTCTATGCTTCTACTAACTGATAAAATTACCATAATTTCAGTAGAATAAACTACTGGATCCAAAGAAACATAAGTCATAGCCATTCCTTTTGGTCCCAAATTCACAAGCATGGAAATAACAACTACAAAGAATCAAAATTATAAGAAAAATAGTTCAGCTGATTTTCAAAACATTCACAGAATTATCTAACATGTAGGACTAGATGACCAATGCCAGAGTTTACATCTTGCTAATCATGAGAAACTCAACAATTAACAAGGCAGCAAGTAAGTGAAGAAACACACGAGATCCAATTTTGTCTCAACAGAAGAACTTTCACTCTCTGTCCAGGTAGGTGACAAAAAGTGATAATTCACACACATTCAATTCATTCTGGTGCTTATTTTTCAAATGTTCCATGCAAATTTACCACTCACTGCATGCAAACAGAGAAAAAAGAAAACCCACAAAGCACATGTAAAAATTGCATAAACATGACTTAAAGACATTTTGCTATCTATGAAGCTATAAACCCCACCTGAAAATTAAAAACTGTTATCACAGATTTAGCACTATGCAAAATATGAAAGTGAAAACATGTAAAAATAAAATGGAAATGCAGAATCTAGAAAATTTAAAATATATATTGCTACCCTTCAGTAAAGAAAGGGAGATAATGTCATGTTCTCCCAAACTACAGTGACTTCCCTGGTGAAAATGTAAGTAGGTATTTCCTTTCTGGAGGAAAACAGTGAACATGTATCGAAAGTCTTAAAAACACGAATACCGTGTGAATGAGATCCTACTTGTGGAAAATAATTTGACAATTTTACAAAAATGCATTGTTTC
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AGTAGAGAGGGGGTTTCACCACGTTGGCCAGGTTGGTCTCGATCTCTTGACGTCGTGATTCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGCCTGTAGTGTTTAATATGTTAAACTGAATTTTTCAGGTATATAGATAAAAATTAGTCAAAAAACACTGTAATTAGATATGAACATTCAAAAAGTTTGGTTTATTGATACAGGTGTTCTACTGAGAAAGACATTTTTATAAGATTTCTTGTGATAAATGTGTCCCTGAAAATACTCAATCTTTTAAATTTTGCACTTAAAAACCTCCTACGCAAAAACAGTTTGGTGCAGACTACTTAATACTTATGCAACTTTGTAATTAGTGTTAACAAACATAATTAATAATCAAAATAAGAGTACTAGTGTACAGAAAGCATCTCTAATTTCCAATATACAATAGTAACTATAGAACAATGCAAAAACAAAAACAAAAAAACCAGTAACGAACAGGGAACAGTAACAGTAGCATATTAGAAAACAGGGATAAGGAAAGGTCACAACTGCTATAATGCAGACTTGAGCAAAAAGAGGAGGGGGCATAAAGACTGGATAAAGCCACACAATAAGCACCTCTAAGATGGAGCACGTGGCCAAAAGAGCAGATGAGCACATTCCTCATGTACCACATCCCCCGCAGCTGGCTGCATTCCACTGTGCCAGCACTCTACATTCAGTTACTGGTACTCTCTGGTGCACACTTACTGGAGAACTGTGTACAATAAAGTCAATGCAGCTTCCACATTATACTGACACACTATATATACAGACAACATTTACCTATTTTCCCATAGTGTGTGAACTAATTCATGAAACAGAATTATACACTCTGAAGCAACAAAGTTGTGTAAAGTGACGAAAATAATTTTATTGTGGAAACAGAGTAGAGGTTATAACACAATGCCACTTCACTAATTCTTTCAAACTTGATTCAAATGATGTTAGTGAAAGTTTTAGAGGCAAATGCCTCTAAAATTCTCTGACTTGTATGTCATAAAAAAAAAGCTTTCTCTCTTAAAATACAATTGCCTCTGGGTGTGTGTAGGGGTGAGAGTGGAGGGGCGCTAAGCCCTGGTAGTCATTCAAAAATTTGATTACTTTGTTACTAATTACCTTCACTGAAGAAAATAACTTGGAGTTTTAGTATTAGCGACAAGGTAATCGAATTCTGAATTTTGGACGTAGGACCATTTAGAAAACAAAAGACCTGAGTGAAGACTGTCATTGGTAGGTCATGATCCTTGGCAGCATGACTGTACCAAATGTCCGGAAGGAGAGTGAGAAGCATATATCTGAAGGAAACGTAGAATTCTCACATAACTATCACAAAATTTTGTCTTGCCTTCAAAAATGGAAAAAACCCACTGTTTCCTCTTTCTGCTTCTTTCATCACATCATCCTGAGGTTCCAGAACTCATGCCAGATACTTAGTCCAGTTATTCTATAACTTAAATAGATGTTGTGGCCTAGTTTTGGAGATTCACTACCACTTAATACATTTTTCCTAAGAATTTTAAAAAGTTCAAATCAATCTATTAACAAATGAACTTTTGGCATATGATCTGCTTCTAATTAGCAATGATTAGACCTGTAAAATGTAGTTATTATTCCTGTCCGTTACCACAATAAAAAATTGGTTCTACGATATCAAAATGTCTTTATGTCACAGAAGAAAAAACAAATAAAAACTAATACATTTAAATCTCCCACATGGTTTTCAGGCAACAATTCTCAATTGAAAATAAAACATCTTACCTTTAAAATCAATTCTAGCGCCTTTCTTGTTCATTTTTATCTCAGAGCAGGAGTTGTTGGGGGCACCTTTCGAGTTCTCAAGGTAAGCTGAGCTTGCTCCTTTCTTGGAGGGATGAGGATCACAGAGTTTTGCATTAATCTTATAAAGCTCGAGGGCTTTAATAGCTGCTGCATTATTATCCATACGAAGAAAAGTTGGACAGGAAGCACAAAACTCATTCGTGCAGGCTTCATTTCCACAGACCTCAGTTAACTGGTGGTAGTAGCGTTCTATTAGATGCTTTGCAGCTGCTCGCTTCCTGTACCAAACATTCAAACAATAAGCACAGTGATTAGTACAGCTCTCAAGTACAAAGCTCAACATATCATCAAGGCAAAAGTTAGTCAAGCACTGAAGTGATTAACCTGTGTATGAAGATGAGAAGTAGAAAATGGAGATGCACTATTTACCACAACTCCTGACTAGTGAAATAGTTAATAAATATTTTCTAGGATATTATGATAAAGAATGTCAATGCTTACTGACTGTATTAACAGAGTATACATTCCTTTGGTTTAAAAGGGGGGAGGGGGGCTTGTCTGATGGTATATGTGCTTAAGTTGTTTAGTACAACAGCTGAAAAATCACAAGGTTTACAGCTAAGAGTTGTAGGATTCTATCATTTTAAAAATTAGCATTAGGAAAATGAGTCTATTTAAAGCATCAATCCGGTTTTCTTTTACATAATCAGTATTTCATTTTTAACAGCTTGTAAACATTTGACTTATAGTTAACACAGAATATCTATCTGGAATAAAAACTATTTTTCCCAATTATCAACAACATGGGAGACTTAAAAATAAATTTGTAAGTGGAATATCCAAAGATAGTGTTACACTGAAAGAAAGCGGCTGCAGCCTGAGTGAGGCAGATCATGACTGTAATCAATCCCATAACTGTGGGAGGCTGAGGCAGGCCGACTACTTGAGCCCAGGAGGTCAACACCAGCCTGGGCAACATAGTGAGGCTACTCTCTACAAACTTTTTTAAAAAAAATTAGCCAAGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGATCACTTGAGCCTGAGAGTCAAGGCTGCCATAAGCTGAAATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCTAGACTTTGTCTCAAAAACAAACAAACAAACAAAAACCAAAAAGAAAAAGAAAAAGAGGCTCCAAAGTGTAGAATCTTAAATCTAAAACTTGTCACTAAACCTCCTCATTAGTTCCACGTCACAAGATGGAATATTTTAAGTTCCATCACGTGAAATCTTATATTCCTTTTACTCTGTCAACTTAAAGTACACAGATTAATGTCCTATTATGGCTGTTTCAGGAGAGCTACCAAAACTGAGGGAGGAATTATGTGACCATGTAAGAAGTTAGATGACATTATATTCAACACTAAAGAGTCTATGCTTCTACTAACTGATAAAATTACCATAATTTCAGTAGAATAAACTACTGGATCCAAAGAAACATAAGTCATAGCCATTCCTTTTGGTCCCAAATTCACAAGCATGGAAATAACAACTACAAAGAATCAAAATTATAAGAAAAATAGTTCAGCTGATTTTCAAAACATTCACAGAATTATCTAACATGTAGGACTAGATGACCAATGCCAGAGTTTACATCTTGCTAATCATGAGAAACTCAACAATTAACAAGGCAGCAAGTAAGTGAAGAAACACACGAGATCCAATTTTGTCTCAACAGAAGAACTTTCACTCTCTGTCCAGGTAGGTGACAAAAAGTGATAATTCACACACATTCAATTCATTCTGGTGCTTATTTTTCAAATGTTCCATGCAAATTTACCACTCACTGCATGCAAACAGAGAAAAAAGAAAACCCACAAAGCACATGTAAAAATTGCATAAACATGACTTAAAGACATTTTGCTATCTATGAAGCTATAAACCCCACCTGAAAATTAAAAACTGTTATCACAGATTTAGCACTATGCAAAATATGAAAGTGAAAACATGTAAAAATAAAATGGAAATGCAGAATCTAGAAAATTTAAAATATATATTGCTACCCTTCAGTAAAGAAAGGGAGATAATGTCATGTTCTCCCAAACTACAGTGACTTCCCTGGTGAAAATGTAAGTAGGTATTTCCTTTCTGGAGGAAAACAGTGAACATGTATCGAAAGTCTTAAAAACACGAATACCGTGTGAATGAGATCCTACTTGTGGAAAATAATTTGACAATTTTACAAAAATGCATTGTTTC
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Task1_train_20458
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This is a variant in SNHG14, UBE3A (small nucleolar RNA host gene 14| ubiquitin protein ligase E3A), located on Chromosome 15. Is this mutation a likely cause of disease or not?
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Pathogenic; Angelman syndrome
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ACTACAATGACTACTATTGAAGTACACACACACACACACTCTCACACAATATGTGATGGCAAGGATGTAGAGAAACTGGACCCCTTGTGCACTAGTGGTAGAAACGCAAATAGGTACAGTTGCTCTGGAAGAGTATGGCAGTTTCTCAAAATTTTAAAAATAAAATTACCATATGATCCAACAATTCCACTTCTGGGAAAACAATTCAAAGCAGGGTCTCAAAAAGATATTTGTACACTCCTGTTCATAGCAACATTATCTGTAATAGCTACAACATGGAAGCAACCTGAGCGCTCATCAACAGGTAAATGGATAAGCAAAATGTGGTATATACATACAATAAAACATTATTCAGCCTGAAAAAGGATGCAAATTTTGAAACATGCTAAAGATGGATGAAACTTGATGACACTGCGAAGTAAAATAAGCCAATCATAAAAGGGCAAAAACTGTATGATTGCACTTATAGGGGGTACTTAGAGCAGTCAAAATTAGACACAAAGTAGAATAATGGTTGTCAGAGGCTGTGAAGATAAGGAAATGAGGAATTATTGTTTAATGGGTACAGAGTTTCAGTTCTGCAAAACAGAGAGTTCTGATCGTGACTGTGCAACAATATTAATATACTTAATACCATTGAGCCAAATACTTAAAAATGGTGAAATGGAAAATTTTACATTATGTGTATTTTACTACAATTTTTTAAAGCTTAAAAGACAAGTCACATGGTTGGGTCACATAAATTTGAGAAATACATTTTATAGTCGTTTCTTGCAGATTCACAATATATACCGGCATTTAAATAAGGTTCCAATATTTTCAGTAAAAAAATCTTGATTTTTCCACCCTCACCCACAATTACAATTAATATCACACATCCATCTTTACTTCCTTGTTCTAATTTCATTAGATGGGCATCTTTCCTCTTATTCAAGGTCAATCACTATATCTGCATTTTTCTTTTTTTATATTACCTGTATGAGAGATACACCTGTATTTTTCATTCCAACCCTTAATACCTCGAAAAACTTTGCTTTGATAATTACTACCTCTATTATCTGAAACATCTTTAGTCTTCACAATAAATCACTAAAGTCTTACTTACTTCATGTCCTAAATATTTGTCTTAAATCCAGAAAAATTTATTTTGAATTCCTATTATACCACTGTCATTGTCAAGGCTCTCACTGACTGAACTACCTTACCACCACACGTTTCTCTTCAATCCTTTCTCTCTTGCAAGGTTATTAAAAATACACGTTTGACAAACTTACTATCTACCTACTGAGCAAATTCTTTGCTGACTCCCTAATACCTTCTATCACATCTTATCTTCTTCATTTTCCTACCTCTCAGCTAGTTTATGATCTAAAAGTCCTCAACTGCCTATTGTCCCCTACTCCCTATGCTGCTTCTAACTTTGGCTCATACTTCTGCCTGGAATAAGCCGCTCATGCTTCTAGCTGCCTGATTCCCAGTCACATTTCAAGACTGAACTTAGCATTTCCTGGCCACTCTTACTTCCCTGCCATCTACACTAGATTCCTATTGCATACCTGGGTACTCCAGTACTCCTTCATGTTACTATTGTATTTTGGATACCATTCTACCTCAGTGACTGAAATTATTTGCTTCTGCATCTTTCACTCTTGAGTATAATATAAATTTCTGTAGGGTGAAAACTAATTATTACGCATCTCTGTATCTATAACATAGTACTTGATGCCTTAAATATGGTAGGCGTTGAGACTGTTAAACTCAACTCTTTCCTCAACCTCCCTATTTCCCTACAACTGCTACCAGGGAAGCAAAAAGACTAAGAATTTAGGCGTGTGCATTTATCTATCTAGTAGTAGAAACCTAGTAAACTGTTACCGAGGTTTAGAGTTATCTGATAGGAAAAAAAGTAGGTATGTTCCTATCTCCCATTTACTGCTAAATGATTCCTTTCTTTTAACCAGAAATTATTTCCAAATAATGTGACGTAATTTAAAGCAGTCTAGGGCAACTCAAAATAAGAACCACAGTCTCAACCAAGTTACACTTACATTCGGCTAGCTTCAATGTCGTCAGACTGAGGTTCTCCTGATCTGTAAAATGCAATTGAGAAACAGTTAGCAAAATATTCCATATTCCAAAAAAAAAGGTAGACATATTACTTAGGAAGACAATTTTGTAAACAAGATTTAAGCACTAAATAAAACAGTTTTAAAATTAAAGATGTCAACATGAAAGAAAGTGGTCAGATCAGGTGGCCATACAACACATTTATTTTAAGGGTTGGACTATTAAAAAACTCAATGCATGTTTTTTAAAGGAAACTGTAAACGCTATACATAGATACCAACAGACAAGCCATTATAAGCCATAATTATTCACAAAGTCAAATACGTGTAATAAAACACACAACTAAAAAACTTCCTATAGCCAAGTATTGGTTATCCACATTAACAAAGGTACTCACTGGTATTCACTCACAGTATTAAACTTTAGATTAGTGGCTCAGTAAACTACTCCCTAGGCAGACAGACTAAAGCTTAGGCCAGCCATGTAGTTTTGTAAATGAAGTTTTATTGGGATGCAGCCATACTCATTCATTTAGGTATCATCTATGGCTGCTTTCACACTAAAAGAACAGAGCTGAGGACTTGTGGCAGAAACCACATGGCCCATAAAGCCTAAAATATTTATTTTCTGGCCCTTTAAGAACAAATGTGCCAACCGCTACCGCTACTCCAGACAATTCAAACTAAAATCTAATACCTTGGTAAGTTTAAAGACACTTAAATCAGATACAACATTCTAATGATGATTATCTTGGTTCAACAATGAAACTGTTTCCCTAAAAATACACTTACTGTATGTATTACCTGTCAAAAGTGTATCACCTGAGGTGAAGTTTTGCACTGGATAGCTGTGAATTAACTTCAGTTTTAAACAGTTGCCAGTTACTTTGTTATTTCTAAATATACTACTGCTCTCTCATGTAGAAATATTTAAAATTCTAAGTCACTAAAAAGCCTTTCATTTTCATTTCACGAGATATGAATCAGTATTTCCCTATCTATTCACTTTTATAAACAGCATCAGCAACAATGAATGAGTCAATATAATATTGATTTCTAACACTTAGAAATTCCCAAACTAGATAAAAAATGTTTTTTGAGGTCAAAAGCTAAATTTTCAAATTGGCATTACAAAGTCCTGATTTGTGAACTTCTCACTGACTTTAGGCTTCCAACTTTAAGCAACTCTAACAAGAATCTTAAAATCAGTCACACACACACACACACACACACACACGCACACACACAAACCTGTTTTCTAAATTTCTTAGCTAAAAACAAAAACAAAAACAAAAAACAACCCCTCACTTCTTTATCAGACTCTCAAAATTACCCTCACTGCAATTCATTCAGATTCCAAGGACAAGAATGGAAAAGGAAAAAAAAAAAAAAAAAAGACTCCAGCAGCTCAAATATTTATTTTAGATCTTCTTTGCAATGTATTTAAATTTTCAATTTTGCACAAAATTACATAACAACTAAAAACTGGGGCATGCTGGAGGTGGCAGTGACTTGGCTGTGACACAAATGCAAAAATTTCACTCCACCCTCTCCCCCAGGGAGCAAGCAAATCACCTATGTGACACACCTGGTCTCCACCAGCCTTGTGGGTAAGTACCCCAAGATTGCTTCCAAACTTGTATCTCCCAGACAGAAGAGCTAAAAATTGATGATAACCCCATGTACCAGCTGACTCATTTTTGAAAGTGCGACCCTCCAGCATCAGATGTCATACTGTAAGGAGGCAGAGCTGGCTTGCAAAACAAAAAATAAACCTGCTGGCACTGAGGGAAGAGAGGCAGATTAGAAGTTTTCAAACACGTAGGCAGCAAAACTTTCAAAATTAACAGGGAAAGAGAAGAGAGGGAAAAAATGAGGACATGATGATAGGAAAATAAAAATATTACTGCAAAAAGGTAAGACACAAGAAGAAAAACAAATCTAAGTCTTAGAAGTACAATATGTAACTGTTACAAAGTTTTGAGATCCTGAAATGGGATAGAGTTTAAATACATTATCAAATGATAACT
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ACTACAATGACTACTATTGAAGTACACACACACACACACTCTCACACAATATGTGATGGCAAGGATGTAGAGAAACTGGACCCCTTGTGCACTAGTGGTAGAAACGCAAATAGGTACAGTTGCTCTGGAAGAGTATGGCAGTTTCTCAAAATTTTAAAAATAAAATTACCATATGATCCAACAATTCCACTTCTGGGAAAACAATTCAAAGCAGGGTCTCAAAAAGATATTTGTACACTCCTGTTCATAGCAACATTATCTGTAATAGCTACAACATGGAAGCAACCTGAGCGCTCATCAACAGGTAAATGGATAAGCAAAATGTGGTATATACATACAATAAAACATTATTCAGCCTGAAAAAGGATGCAAATTTTGAAACATGCTAAAGATGGATGAAACTTGATGACACTGCGAAGTAAAATAAGCCAATCATAAAAGGGCAAAAACTGTATGATTGCACTTATAGGGGGTACTTAGAGCAGTCAAAATTAGACACAAAGTAGAATAATGGTTGTCAGAGGCTGTGAAGATAAGGAAATGAGGAATTATTGTTTAATGGGTACAGAGTTTCAGTTCTGCAAAACAGAGAGTTCTGATCGTGACTGTGCAACAATATTAATATACTTAATACCATTGAGCCAAATACTTAAAAATGGTGAAATGGAAAATTTTACATTATGTGTATTTTACTACAATTTTTTAAAGCTTAAAAGACAAGTCACATGGTTGGGTCACATAAATTTGAGAAATACATTTTATAGTCGTTTCTTGCAGATTCACAATATATACCGGCATTTAAATAAGGTTCCAATATTTTCAGTAAAAAAATCTTGATTTTTCCACCCTCACCCACAATTACAATTAATATCACACATCCATCTTTACTTCCTTGTTCTAATTTCATTAGATGGGCATCTTTCCTCTTATTCAAGGTCAATCACTATATCTGCATTTTTCTTTTTTTATATTACCTGTATGAGAGATACACCTGTATTTTTCATTCCAACCCTTAATACCTCGAAAAACTTTGCTTTGATAATTACTACCTCTATTATCTGAAACATCTTTAGTCTTCACAATAAATCACTAAAGTCTTACTTACTTCATGTCCTAAATATTTGTCTTAAATCCAGAAAAATTTATTTTGAATTCCTATTATACCACTGTCATTGTCAAGGCTCTCACTGACTGAACTACCTTACCACCACACGTTTCTCTTCAATCCTTTCTCTCTTGCAAGGTTATTAAAAATACACGTTTGACAAACTTACTATCTACCTACTGAGCAAATTCTTTGCTGACTCCCTAATACCTTCTATCACATCTTATCTTCTTCATTTTCCTACCTCTCAGCTAGTTTATGATCTAAAAGTCCTCAACTGCCTATTGTCCCCTACTCCCTATGCTGCTTCTAACTTTGGCTCATACTTCTGCCTGGAATAAGCCGCTCATGCTTCTAGCTGCCTGATTCCCAGTCACATTTCAAGACTGAACTTAGCATTTCCTGGCCACTCTTACTTCCCTGCCATCTACACTAGATTCCTATTGCATACCTGGGTACTCCAGTACTCCTTCATGTTACTATTGTATTTTGGATACCATTCTACCTCAGTGACTGAAATTATTTGCTTCTGCATCTTTCACTCTTGAGTATAATATAAATTTCTGTAGGGTGAAAACTAATTATTACGCATCTCTGTATCTATAACATAGTACTTGATGCCTTAAATATGGTAGGCGTTGAGACTGTTAAACTCAACTCTTTCCTCAACCTCCCTATTTCCCTACAACTGCTACCAGGGAAGCAAAAAGACTAAGAATTTAGGCGTGTGCATTTATCTATCTAGTAGTAGAAACCTAGTAAACTGTTACCGAGGTTTAGAGTTATCTGATAGGAAAAAAAGTAGGTATGTTCCTATCTCCCATTTACTGCTAAATGATTCCTTTCTTTTAACCAGAAATTATTTCCAAATAATGTGACGTAATTTAAAGCAGTCTAGGGCAACTCAAAATAAGAACCACAGTCTCAACCAAGTTACACTTACGTTCGGCTAGCTTCAATGTCGTCAGACTGAGGTTCTCCTGATCTGTAAAATGCAATTGAGAAACAGTTAGCAAAATATTCCATATTCCAAAAAAAAAGGTAGACATATTACTTAGGAAGACAATTTTGTAAACAAGATTTAAGCACTAAATAAAACAGTTTTAAAATTAAAGATGTCAACATGAAAGAAAGTGGTCAGATCAGGTGGCCATACAACACATTTATTTTAAGGGTTGGACTATTAAAAAACTCAATGCATGTTTTTTAAAGGAAACTGTAAACGCTATACATAGATACCAACAGACAAGCCATTATAAGCCATAATTATTCACAAAGTCAAATACGTGTAATAAAACACACAACTAAAAAACTTCCTATAGCCAAGTATTGGTTATCCACATTAACAAAGGTACTCACTGGTATTCACTCACAGTATTAAACTTTAGATTAGTGGCTCAGTAAACTACTCCCTAGGCAGACAGACTAAAGCTTAGGCCAGCCATGTAGTTTTGTAAATGAAGTTTTATTGGGATGCAGCCATACTCATTCATTTAGGTATCATCTATGGCTGCTTTCACACTAAAAGAACAGAGCTGAGGACTTGTGGCAGAAACCACATGGCCCATAAAGCCTAAAATATTTATTTTCTGGCCCTTTAAGAACAAATGTGCCAACCGCTACCGCTACTCCAGACAATTCAAACTAAAATCTAATACCTTGGTAAGTTTAAAGACACTTAAATCAGATACAACATTCTAATGATGATTATCTTGGTTCAACAATGAAACTGTTTCCCTAAAAATACACTTACTGTATGTATTACCTGTCAAAAGTGTATCACCTGAGGTGAAGTTTTGCACTGGATAGCTGTGAATTAACTTCAGTTTTAAACAGTTGCCAGTTACTTTGTTATTTCTAAATATACTACTGCTCTCTCATGTAGAAATATTTAAAATTCTAAGTCACTAAAAAGCCTTTCATTTTCATTTCACGAGATATGAATCAGTATTTCCCTATCTATTCACTTTTATAAACAGCATCAGCAACAATGAATGAGTCAATATAATATTGATTTCTAACACTTAGAAATTCCCAAACTAGATAAAAAATGTTTTTTGAGGTCAAAAGCTAAATTTTCAAATTGGCATTACAAAGTCCTGATTTGTGAACTTCTCACTGACTTTAGGCTTCCAACTTTAAGCAACTCTAACAAGAATCTTAAAATCAGTCACACACACACACACACACACACACACGCACACACACAAACCTGTTTTCTAAATTTCTTAGCTAAAAACAAAAACAAAAACAAAAAACAACCCCTCACTTCTTTATCAGACTCTCAAAATTACCCTCACTGCAATTCATTCAGATTCCAAGGACAAGAATGGAAAAGGAAAAAAAAAAAAAAAAAAGACTCCAGCAGCTCAAATATTTATTTTAGATCTTCTTTGCAATGTATTTAAATTTTCAATTTTGCACAAAATTACATAACAACTAAAAACTGGGGCATGCTGGAGGTGGCAGTGACTTGGCTGTGACACAAATGCAAAAATTTCACTCCACCCTCTCCCCCAGGGAGCAAGCAAATCACCTATGTGACACACCTGGTCTCCACCAGCCTTGTGGGTAAGTACCCCAAGATTGCTTCCAAACTTGTATCTCCCAGACAGAAGAGCTAAAAATTGATGATAACCCCATGTACCAGCTGACTCATTTTTGAAAGTGCGACCCTCCAGCATCAGATGTCATACTGTAAGGAGGCAGAGCTGGCTTGCAAAACAAAAAATAAACCTGCTGGCACTGAGGGAAGAGAGGCAGATTAGAAGTTTTCAAACACGTAGGCAGCAAAACTTTCAAAATTAACAGGGAAAGAGAAGAGAGGGAAAAAATGAGGACATGATGATAGGAAAATAAAAATATTACTGCAAAAAGGTAAGACACAAGAAGAAAAACAAATCTAAGTCTTAGAAGTACAATATGTAACTGTTACAAAGTTTTGAGATCCTGAAATGGGATAGAGTTTAAATACATTATCAAATGATAACT
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Task1_train_20459
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Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Developmental and epileptic encephalopathy, 43
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CCAGGCAGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAG
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CCAGGCAGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATACGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAG
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Task1_train_20460
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This variant lies on Chromosome 15 and affects the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 1
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AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGA
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AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACCTGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGA
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Task1_train_20461
|
A sequence alteration has been identified in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is it disease-inducing or harmless?
|
Pathogenic; Epilepsy, childhood absence, susceptibility to, 5
|
AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGA
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AGGGTGGTATTGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACCTGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGA
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Task1_train_20462
|
A sequence alteration has been identified in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is it disease-inducing or harmless?
|
Pathogenic; Developmental and epileptic encephalopathy, 43
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TGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCT
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TGTGGTATTAAACCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGTTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCT
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Task1_train_20463
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Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), found on Chromosome 15, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Neurodevelopmental delay
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CCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTAT
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CCATTCATGATAAACCGCCCTCATGATCCAATCATCTCCCACCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGAGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTAT
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Task1_train_20464
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Located on Chromosome 15, this mutation impacts GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 5
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CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTATTTTGAATGGACATGTATGACACAGGCCTCGGCAGATGTCCC
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CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTATCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTATTTTGAATGGACATGTATGACACAGGCCTCGGCAGATGTCCC
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Task1_train_20465
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Gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 1
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CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTGTCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTATTTTGAATGGACATGTATGACACAGGCCTCGGCAGATGTCCC
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CCAGGCCCCACCTCCAACACTGGGGATTACAATTTGACGTGAGATTTGGGTGGGGACACAGATTCCTCATGAATTGTTGAGCACCATCCCTTTGGTGCTGTCTGTGATAGTCAGTGACTTCTCATGAGATGATCTGGCTGTTTCAAAGTATGTGGCATCTTCCCCTCCTCCTTGTTCCTACTTTTGCCATGTAAGTTGCCTGCAGCTCCTGCTTTGACTTCCACCATGATTGTGAGCTTCCTGAAACCACCTCAAAAGCCGGGCAGACATTATTGCCATGCTTCCTGTAAAACCTGCAGAACTGTGAACCAATTAAACCTCTTTTCTTTGTAAATTTCCCAGTCTCAGGTATTCCTTTATAGCAACAGAACAATGGCCTAACAGTAAGTTTAACAAGAAGAATTAAAAAAAAAATGTGGGAAGAAACCCAACATGTAAACAGGTAGAAATATATACTTGAGGATTTGAGGGGATAGAAGAGGTGGAAAGATAAATTTTAAAAATTATATTGGAACTATAATGTGCTTTCATTCAAATGTTGTTTATAATCACAATAACATACTGCTTTTATATAAGCTGAAATGACATCTAAAGATAAAGTGGCTTTGTGGTTGGAAGGATGTAACAGCATTGCTGAGTTGGGCTGGGCTGGAGGAGGGTGTGCAAGGGCTTTAGAAAGTTCATGGACTTCATAAAACAAAGTGTCTAGGTCTGCCCAACCCTGGCTTTTTGCAGAACACAACCGGGAGGGGCCAGGGCCACGGCAGATCTATGAGAGCTTCCAGAAAGAGCACTGCTCCTGCCTTGTGCATTCCTTTTGGACTTTGCTTTTTCTCTAGAAGACTGTGGCCACTGGGCAGGTGGACAAAAGATGGTGTGCCTGCTCCAGTGCAAAGAATGGCAGCATGCTGGATCATCAAATTGATAATTTTACAACTAAAGGAATATTGAAACATTTTGGAAAAATGCTTCCGTAGAACAAATTCACACTCTCCACCCCAGCGTTTCATTCTTTCCAGACCCACAGGTTTTGTTCTCTTTGTAGGAAACTATAGATGATTTTGGCTTCTCCAGCATCAACACTAATATTGGTTTTATAGGAAACCCTGTGACATGCACAAGGAAATATTTCAGATTATGATCATCAAGCCTGCCCAAGTCCTACACAAAGCTGATGCAAGTATATTTAAAAAACCATTAGGCCCTGTTACTCACTTCTGTAAGTGGAGAATTCAGAAAGGGCAAGGGAGTCTTTCATTGCCAGCTCCATGTTGACCCTCTCCCTTGTGTTCAACACCAGGCCAGAGATTAACCAGCCCCAGTCCAAATGCCCTCACCCAAATTCAAGAATGCACTCCACTTCTCAATAGGCTGCCCATCCAGATAGACGCTGTTTTAAGGGGCTTACTGGTGAGAGGAAGAAAGCCTAGGTCTGTGCCCTGAGGGTAGACTGGAGTAATGAAAGTGACTGTTGGGCATGCTTTACCTGGGCAAAAAGCAACCGGGCCAGGGTCAATGTGCACGGAAATGTCAAAAGTCAATTTTGTTGGCCAATCCAACAGTCCTCTTTGTGTAAGCCTACAACCACTGGTTTCAGTGAACTCTGGCCAGTCCTAGCTAGATGGCCAGGACTCCACTGGACTGGTTTGAGCAACCCCTGAATAAAAAACACCTGGGTGCCATGTCATAAGGGCTATATCACAAGTACAAGAAGGGTGTGTGGCTTGACATACACTACTGGGGAAAAAACAAAGAAATATCATGCAAGTAAATGCAGTAGCTGCTGAGCTGCAGGGACCAGGTGGGGTCAAGGTGGTGGAGAGCCTACCCGGTTGCTTTCGCTCTTTGAACGGTCATTCTTTGCCTTGGCTGTCTTTTCTGCAAGCTTCTTCTGCCTTTGAGGGCCTCTTCCAAAGAAAATGTAGTTGACAAAGGCATACTCCAGAAGGGCCAGGAACACAAAGACGAAGCAGCCCATAAGGTACATGTCAATGGCTTTGACATAGGGGATTTTGGGCAAGGTCTCCCGAAGGTGGGTGTTGATGGTTATCATTGTCAGCACAGTTGTGATCCCTAGAAAAGAAACAAAGTGGTGAGAGGCTGAAACTTTGCCACATTGGTCTTCACTTTTCACTTTCCTTTTATGTTTTCTCAAACAGCTTTAAGTAGTCAGAGATAAGGGGTTGAATACTGTGGGGTGACTGGAATGCAACAGAGCATACATCTTGTCATTTGCACCGCACGTCACCACTCAGAACAGCAAGCTGACATCTGTACTCTGGGGAAGTGAAGCCGTGCAGGGCATCTCCCTCCCCCACCCACCCCCCTGCCCACTACACCTTGCTATCACACACGATGGAATTTTGAGAGTAGAAGAAGAGATATGTAGAGCAGGAAAAAAGAATGTGGTTTTTATGAATGCTGGAAAAAATAAAAATAAGCCCAGAATTTAGCATAAAGCACAAAGTGTCTAGATGAGAAACCTCCAGGAAAAAGAATGAATTTGAGGTGTCTGTGGCTGCAGAGGCAAGGCTATGAGCGAGAGCTCAGTGAGGCAGCCTGTGAGAAGAAAATAATTCCTACTACAATGCTTATTGGAAGCAAGAGGAATGAGGCAATGATTTTTAAAATTATTAGCCATGAGATCCAGTCCTGAGCTCAAAGAGAAAGAAATAGCTGAGTGAAGCTTCTGAGGGAAGATGATCTCAGAGAGCGACTTCCCTCCTCAACTAAGAAAGAATCTGTACACAAGCTGCTTAGGAAATGTTTGCTCAAGTTAAGGGTTAATGATTTCATTCATCTTATAGAATCCCACCATACTCTGGCGCAACTCATCAGATCCTTTTTTTAAATGTCGTTATGTTGAATTCTTTACATAGTATTGTATGGATGATCTCATTGTTTCCCAAATAGAGCTCAATTTAGTCTAAAACCATGTGTGGACCATGTATTGCAATTCTCCCTCCCATAGCAATAGACATAAGATTCTGCACTGAATCATCTGAGGCCATAGACACCAGGAGGCAAGTCAGTGACATGCCCAGAGCTTGTGGAGTTAAGTTACGCTGCGCTTACAGGAAAGGCACGGATCACTCCCTTGTGGTAGGGTGGGATGGTAGTACTGCAGCTGACGCGCTCTCTTGGAGACTGTATTTTTGACATATTAATATGTCTCAAGGAAGCAAGACAGCTTTGAGGGCTGAGCTCTTTTCTACGTATGCCACTGATGCCACTGAATGTGAAGATGTGGGTTTCAGGACCCAATAAAGAGAATAGGTTCCTCCGCATTGCTTTGTCAGGCTTCCCTGAAAAAGGAGACTTTCAAAGGAGAGAGCTTAACCATAATCCTTCATCCTCAGTAACCCAAAACCCACATGACATCACTGAGGCCAAGAGGTAGTGCCAGCCCTACATTTCAGCACTGTCCAGATATGTACTCTGGGACGGAGCCCAGGCCATTCTGCACATGGTCCCAGCCCAGCCCTCCAGGGCAGAGTTTGAATTTACTAAGCATTCCAATTTCATGCCCTCTGATTTCCCATCCTATCCTGGGAGGCAGCATCCTCATCCTCTGTGTCCCACAGGGAGAACCTTGAGACTGCAGAGCTCAGCTGGCCTGGGAATCAGCTGGAGAGCAAGCTAGACAGCCCAGTCTTCCATCTCCAACACAAGCGCTCCCTCCACTGAGCTCTGAACTGCTACTAAAAGCTAAGAAGAGAACTGAAGACTTGAGAAACTCTTTTTATGTAGAACTGCAAACCATGGTTGCTGACGGAATGTATGGAAATCCAAGATGTCAGAATATTTTAAGATTCTCTTTTAACATCACATTCATGTGCACCTGGGGACTTTTTAAATTTGAAAATGGCAATGGGATAATTACTGTTTACAAATAAATGTGAAAACACCACATAAATGCTACAAAATTAGGCATTCTCACCATTATTCAAAAAGTTTGTAATGTTGTTGCCACTACCGTCTCTCCCCCTTCAACTTGGATTTGGGAAGACCGAGCGCTTTGCTTTAGTCACGACTTTGCCTCTCCTGCTGGCTATTTTGAATGGACATGTATGACACAGGCCTCGGCAGATGTCCC
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Task1_train_20466
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This alteration occurs within gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) located on Chromosome 15. Is it associated with a disease or is it a benign variant?
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Pathogenic; Developmental and epileptic encephalopathy, 43
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TTGAATGTAACTCACTTCCGGGGTATTAACGATTTAATACTGTAGAAGGCAATACTTTACAATTAGGGAGGGACAGAATCTGTAATGGCTGGGAAATTCAGATATGCACATTTTCAGTACACCCCACCCCTTGTGATGTCAGATAATCATGGTTCCTTGGTACTCATATTTCACTAACTATCGCAGTGACGGCAAATTCTCTGTAGCAGATGCTTCAGATCGGTCTCCACTTTCATACGCCTCTTCTAGGCTTGGGGAGGGGTCCCAGCAACTTTGTATTTGTATATTTCATATTATTTTTCTTAAAAGGGGGTGCTTGAAATTGTATAAGCTAACAGCTCTGCATAATTTAGATCTGCCTCTACAAATGTATCTTTGAATTTTCCAAGTGAAAAAAGAGTTTAACAAAGAGTAATCTAGCAATATACGTATTTTTAAAGTAAAAGCTACATAAAGACTGACATTACTGGGGAAGATCTGCAGGCTGTAGAAAAGTCCTGGAGATTTTTTTTCTTTTTTTAGAGAACTGTGCTTATGATACCTATTAGAAATACATAACAATTAAAACAGCACTTTCAGTTTTTTGCAGCTTTACTCTTCATAGAGTGGTTTTCTTATCCACTTAACACCCTTAGGAATAGCTACCTGATTTTCTCAAGCCATAATTATGTGTTATTTCCTGGGAAATAAATCTGATCTTGATTACAACTATGCAAGTCACATGTTTGTCATCCATATACACACATGTACTTACATTTTATTAGAAAAGAAAACACGTTATTCAATTTAAAGTCCTGGGAAAAGTTGGTAAACAGAAAAAGGGCTGGGTGTGGTGGCTCACGCATATACTCCTAGCACTCTGGGAGGCTGAGGTGGGCAGATCGCTTGAGGCCAAGAGTTCAAGACCAGTCTGGGACACATGGCGAAACCCCATCTCTACAAAAAATTAAAAAATTAGCCAAGTGTGGTGGTGTGTGCCTGTTGTCCCCACTGTCCAGGAGGTAGAGTTGAGAGGATCACTTGAGTTCAGGAGGTTGAGGCTGCAGTGAGCCGTAATCGCAATTATGCCACTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAGAACAGGAAAGAAGGGATAACTGGAACCCTGAATTCTTATGTTTTTTTGTAAGGTACTTTGCCAGATAATGTGTTGATAATTCTTTTCCATCAATTTTTATAAGTACTACTGATACGTTCACTTTCAGGAAATAAATTCAACCCTATCCAAAGGGATGGATTGCAGATTGCATCAGCTCTGTACTTACATAAACGTATTTAAATAATTATTTTTTCTATGCAGTTTCATATTAATCAGCTGAATAGAGAATAATGTTTCTGAAAATATAAGCCTTCCCTTAATAATCAAAATGCTAAAAATAATATTGGAACCTATAATACATATTGTACATCAGCTAATAATCCAGCTGTCAAATAACCAATGGTCAGGAAAGATCACTAGAGCCTTTGGCAATCATTCAGAATTGAATTCCATATTTTAATGCTCATTAAATTGTGTAATTCCAATTCTATGCTGTAATATTTGACTATTTTTCTGACTTAAAAAAGAAGAATGCACAATTAATCAAGTCTTCTTTCTGGGCCATGGAATAATTTTGAACAGGAGATGTTAAACCTTGCTTTAAAATTAGTGTCAAAAATAGTTTTATCATGCAAATATTCTGCAAGCATATTTTCCCTTTCATGGGCATGAAAATTCACATTTGAGCCTTGTAATTAAATTAACACATCAAGGGAATCGTGCGTGAAATTAGTGTTTCAAGATAAAAAGTGACTATACAGGCAATGCTTGTGTCACGCTGTCAAAAAATGGTAGTTGAACTACAGCCTTTGAACTCTCTTAATACTGTAATGATACGGTTACTTTACATTTAAATATCACTTAAAAATAGCACATACCGAGGGCAACTCTAGCAGCAGATGCATCATAATTGATCCAGAAGGACACCCACGACAGAATCGTTATCAGTATAGAGGGCATATAAGTCTGAAGAATGAAGTATCCAATGTTCCTCTTCAACCGAAAGCTCAGTGACAGTCGAGGATAGGCACCTATGGGAAACAGACAAGGATATTACACTGGAGAAACAACATGGCAGACTAAAGAGTTTGCTTTGACTTCCATAGGTCAACAACAGGCAATGGAAAAGTCTGCGAATAAAGGGGTGACCCACCACCAAGCAGTTTGCTTCTGTCTGCTAGCGGTATTTATAGAAGAATTAGGAGGGGGGTGCTTTTCGGTCTATTTATAAGATAGTGATGAGGATGCTCTTCTAAGGCTAAACGCTCGGTTGAGAACTTGGAAAAACGTATTAGTTTTTAGCTTAGAATCCAGAATAATGCCAAATACCTTGTTTATTCTTTAATGAATGATTATCCCCTTCTTCCTTGTAGACAGCGGAGATGTGGCTCAAGGCTTTACTGGGCAAGAAAGGCTTTTACCAGTTGTCCTTTCAGCCCACCTGGAGTTCAGCCCTGAATACAGATGTTAGAGGCATTGCCCCTAGAGTGACTGGGCTAGCTCAGGGGCACCCTAAGAATGAGAGAGGCAGAGAAGCAAGTCCAGTCCCGGAGAAAGCAGTGGTGCACACTGAGGGCTTCTGCTTCGGCCACAGAAGAGGCATTAACGAGAGTCTCAAAGGAGCACCTGTCTGCCTTCTTGCCCATGAGTCCCAGTGTTAATTCTCGGATGTGAACATTCCACTCAACACATTTTGGAATCCTACCACCACCACCATGACAGAGTGAGAAAATATGCCATTTATCATGCCACATTCAGCGCTATATTTGCCTTTTCTGTCTTATTTTGTTTTCCTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCAGGCGATTCTCTTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAGGTTTTTTTTTTTTTTTTTGGTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGACTGGTCTTGAACTCCCGACTTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTATTTTGCTTTTCTTAGAGCAAGGCAAGTGTGGCCTTGTTTCCCCGTTTGTTTCAATAGGCCACTTTCTCAGTTCCAATCCTACCACTCCTTGTTTTCTGGATTCTGATGGAGCTGCCTGAGGGCCAGCCAGTGAGAACCCAATGACCCTCTCTAATCAGCTCCTCTGATTGCTCCCCCACACTAGCAGGTGCCTTCTTTCTGAAGCTGCCCACACCCTAAACTCCAAGAGGCCTCACCTTTCCTGATCTCCTCCTACTCCAAGCCTGGCAGGCTCCTATTCTCCTCCTGCCCCTAAATATATGCATTCTACAGGCTTTATTCCATGTCCCTTTCTGTGTCTGTCCCTAGATTCTTCTCTTTGGCAGTCTGATTCACTCGTATGACTACTACCATTATGCAGGAGATGAACGATTTTATGTCTAGGCCTCCTACCTTAGCATCAACCACATTTGCAGCCAGGATTATATAAAAGAGAAAAGAAATCACCAAACATACCCAGCACTTCAAGGCTGACAGTCTCAGAAATTTCCTCCAGTCTTTGTGTGTGTCTGTGTAGAATTTCTCTTACACAGCTCTGATCAAATGCATATATCACATGTCATCATAGCATAATAATTTTTAGAGTGGCTACAAATTATTTGTAAACACAATTTTCGATTCTTCCTAATGATCCATCAAATATCACCACAAGGACTCTATAAATACAGATTCCTGAATGCTGTAGATTTAGGTGTTTTCAATTTTTATAAAACTATAAATAGTACTCTTAAGGATATATTTGTGCAGAGCCGGTTTTCCATATTTAGACTTACTTCTTGAGGATGAATATGCCAAAGGAGGGATTGCTAGGCCAAAGGTTAAAGCTTTTGATAAATATTGTCAAATTACTTTGCAAATGTATG
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TTGAATGTAACTCACTTCCGGGGTATTAACGATTTAATACTGTAGAAGGCAATACTTTACAATTAGGGAGGGACAGAATCTGTAATGGCTGGGAAATTCAGATATGCACATTTTCAGTACACCCCACCCCTTGTGATGTCAGATAATCATGGTTCCTTGGTACTCATATTTCACTAACTATCGCAGTGACGGCAAATTCTCTGTAGCAGATGCTTCAGATCGGTCTCCACTTTCATACGCCTCTTCTAGGCTTGGGGAGGGGTCCCAGCAACTTTGTATTTGTATATTTCATATTATTTTTCTTAAAAGGGGGTGCTTGAAATTGTATAAGCTAACAGCTCTGCATAATTTAGATCTGCCTCTACAAATGTATCTTTGAATTTTCCAAGTGAAAAAAGAGTTTAACAAAGAGTAATCTAGCAATATACGTATTTTTAAAGTAAAAGCTACATAAAGACTGACATTACTGGGGAAGATCTGCAGGCTGTAGAAAAGTCCTGGAGATTTTTTTTCTTTTTTTAGAGAACTGTGCTTATGATACCTATTAGAAATACATAACAATTAAAACAGCACTTTCAGTTTTTTGCAGCTTTACTCTTCATAGAGTGGTTTTCTTATCCACTTAACACCCTTAGGAATAGCTACCTGATTTTCTCAAGCCATAATTATGTGTTATTTCCTGGGAAATAAATCTGATCTTGATTACAACTATGCAAGTCACATGTTTGTCATCCATATACACACATGTACTTACATTTTATTAGAAAAGAAAACACGTTATTCAATTTAAAGTCCTGGGAAAAGTTGGTAAACAGAAAAAGGGCTGGGTGTGGTGGCTCACGCATATACTCCTAGCACTCTGGGAGGCTGAGGTGGGCAGATCGCTTGAGGCCAAGAGTTCAAGACCAGTCTGGGACACATGGCGAAACCCCATCTCTACAAAAAATTAAAAAATTAGCCAAGTGTGGTGGTGTGTGCCTGTTGTCCCCACTGTCCAGGAGGTAGAGTTGAGAGGATCACTTGAGTTCAGGAGGTTGAGGCTGCAGTGAGCCGTAATCGCAATTATGCCACTGCACTCCAGCTTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAGAACAGGAAAGAAGGGATAACTGGAACCCTGAATTCTTATGTTTTTTTGTAAGGTACTTTGCCAGATAATGTGTTGATAATTCTTTTCCATCAATTTTTATAAGTACTACTGATACGTTCACTTTCAGGAAATAAATTCAACCCTATCCAAAGGGATGGATTGCAGATTGCATCAGCTCTGTACTTACATAAACGTATTTAAATAATTATTTTTTCTATGCAGTTTCATATTAATCAGCTGAATAGAGAATAATGTTTCTGAAAATATAAGCCTTCCCTTAATAATCAAAATGCTAAAAATAATATTGGAACCTATAATACATATTGTACATCAGCTAATAATCCAGCTGTCAAATAACCAATGGTCAGGAAAGATCACTAGAGCCTTTGGCAATCATTCAGAATTGAATTCCATATTTTAATGCTCATTAAATTGTGTAATTCCAATTCTATGCTGTAATATTTGACTATTTTTCTGACTTAAAAAAGAAGAATGCACAATTAATCAAGTCTTCTTTCTGGGCCATGGAATAATTTTGAACAGGAGATGTTAAACCTTGCTTTAAAATTAGTGTCAAAAATAGTTTTATCATGCAAATATTCTGCAAGCATATTTTCCCTTTCATGGGCATGAAAATTCACATTTGAGCCTTGTAATTAAATTAACACATCAAGGGAATCGTGCGTGAAATTAGTGTTTCAAGATAAAAAGTGACTATACAGGCAATGCTTGTGTCACGCTGTCAAAAAATGGTAGTTGAACTACAGCCTTTGAACTCTCTTAATACTGTAATGATACGGTTACTTTACATTTAAATATCACTTAAAAATAGCACATACCGAGGGCAACTCTAGCAGCAGATGCATCATAATTGATCCAGAAGGACACCCACGACAGAATCGTTATCAGTATAGAGGGCATATAAGTCTTAAGAATGAAGTATCCAATGTTCCTCTTCAACCGAAAGCTCAGTGACAGTCGAGGATAGGCACCTATGGGAAACAGACAAGGATATTACACTGGAGAAACAACATGGCAGACTAAAGAGTTTGCTTTGACTTCCATAGGTCAACAACAGGCAATGGAAAAGTCTGCGAATAAAGGGGTGACCCACCACCAAGCAGTTTGCTTCTGTCTGCTAGCGGTATTTATAGAAGAATTAGGAGGGGGGTGCTTTTCGGTCTATTTATAAGATAGTGATGAGGATGCTCTTCTAAGGCTAAACGCTCGGTTGAGAACTTGGAAAAACGTATTAGTTTTTAGCTTAGAATCCAGAATAATGCCAAATACCTTGTTTATTCTTTAATGAATGATTATCCCCTTCTTCCTTGTAGACAGCGGAGATGTGGCTCAAGGCTTTACTGGGCAAGAAAGGCTTTTACCAGTTGTCCTTTCAGCCCACCTGGAGTTCAGCCCTGAATACAGATGTTAGAGGCATTGCCCCTAGAGTGACTGGGCTAGCTCAGGGGCACCCTAAGAATGAGAGAGGCAGAGAAGCAAGTCCAGTCCCGGAGAAAGCAGTGGTGCACACTGAGGGCTTCTGCTTCGGCCACAGAAGAGGCATTAACGAGAGTCTCAAAGGAGCACCTGTCTGCCTTCTTGCCCATGAGTCCCAGTGTTAATTCTCGGATGTGAACATTCCACTCAACACATTTTGGAATCCTACCACCACCACCATGACAGAGTGAGAAAATATGCCATTTATCATGCCACATTCAGCGCTATATTTGCCTTTTCTGTCTTATTTTGTTTTCCTTTCTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCTGGTTCAGGCGATTCTCTTGCCTCAGCCTCCCGAGTAGGTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAGGTTTTTTTTTTTTTTTTTGGTTTTGTATGTTTAGTAGAGACAGGGTTTCACCATATTGGCCAGACTGGTCTTGAACTCCCGACTTTGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCGGCCTATTTTGCTTTTCTTAGAGCAAGGCAAGTGTGGCCTTGTTTCCCCGTTTGTTTCAATAGGCCACTTTCTCAGTTCCAATCCTACCACTCCTTGTTTTCTGGATTCTGATGGAGCTGCCTGAGGGCCAGCCAGTGAGAACCCAATGACCCTCTCTAATCAGCTCCTCTGATTGCTCCCCCACACTAGCAGGTGCCTTCTTTCTGAAGCTGCCCACACCCTAAACTCCAAGAGGCCTCACCTTTCCTGATCTCCTCCTACTCCAAGCCTGGCAGGCTCCTATTCTCCTCCTGCCCCTAAATATATGCATTCTACAGGCTTTATTCCATGTCCCTTTCTGTGTCTGTCCCTAGATTCTTCTCTTTGGCAGTCTGATTCACTCGTATGACTACTACCATTATGCAGGAGATGAACGATTTTATGTCTAGGCCTCCTACCTTAGCATCAACCACATTTGCAGCCAGGATTATATAAAAGAGAAAAGAAATCACCAAACATACCCAGCACTTCAAGGCTGACAGTCTCAGAAATTTCCTCCAGTCTTTGTGTGTGTCTGTGTAGAATTTCTCTTACACAGCTCTGATCAAATGCATATATCACATGTCATCATAGCATAATAATTTTTAGAGTGGCTACAAATTATTTGTAAACACAATTTTCGATTCTTCCTAATGATCCATCAAATATCACCACAAGGACTCTATAAATACAGATTCCTGAATGCTGTAGATTTAGGTGTTTTCAATTTTTATAAAACTATAAATAGTACTCTTAAGGATATATTTGTGCAGAGCCGGTTTTCCATATTTAGACTTACTTCTTGAGGATGAATATGCCAAAGGAGGGATTGCTAGGCCAAAGGTTAAAGCTTTTGATAAATATTGTCAAATTACTTTGCAAATGTATG
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Task1_train_20467
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This variant affects the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Developmental and epileptic encephalopathy, 43
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AAAGTGCAAGCTTTTGAAAGTTGGGAGATTTTGTAACTGACTGATGTGGAGCTCTTGCGCTACACCCAATAAATGCAGGACTCAGTATGTGCTGGAAGGAAGACATGATACTGCATTCTGGTAGCCCCATGGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGCAGGATTACTCCACAGTGAGTGTGCTAGCCTCTGTTCTGAGCAGACCTTTAGCTCCTACCACTCAGGGCATGGAACACTTTGAAACCCAGTTTTAGAAGTAACATATCATTTTTTTCAATGCCTCACAGGCCAACGTTCTTGGTTGTGGACACTATTTCTTAATGATAAGCCCAAGTTCCTGCTGGCTCTCATTTCTCCCTGAGGTAAACCTCTCAGTGCGTCTTCTCCGGAGAATGCAGGGACATCTGCAAGACCTCTTGAGGTGGAGGATAAAGTGGCACTGCATAGAAAAAGGATCTGATTGGTGTCTTAAAAATTCAGGCTTTTCCATCTACTTATCATGTACTTTGGCTCTTAGGGGCTGGGGTGGAGAGGAGGGAACGTTGCTGGTGACCTTGACTGATCAATTACTTACTCAGTGACAACTGCCACACACCCAGGACACATTGGGCATTACTCAAGATGGGGGTGGGGAGAGGATGAACCACGCATGACTGACGCAGGTCCCTCCTCAGGGAGGTGTGCCCTTGCAGATGCAGGCACCGTGAGCTGTGAGCAGAGCTGGAAGGTGGTCAGTACTGCCCTGTGGAGATGCACCCCAGCCACTTAATCCAGCCTGGGGGGCTGTGCCGGGTCAAGCAGGTTGAAAAGGCTTCCCAGAGGAAGTAGCGCCAGATGAAGCCTAAGAATGAGTCGGAGCTAGCCACATGAAGGCGAAGCTGGTGGCCATGGGTCAGGAGCATTCAACCAACCCATTCACTGGCTTCATGGTTGTCATCACAGGACTGGGGTCAATTTTTATGCACTCTTTGTTCAAGCTACATGAACAGCTCTGCCTTCTCTTAGCATTTTCAACCAAGAGTTGGTGATCTCTGAAATGCTTTACATTTTACAAAGCACTTTCATTTATTATACCAATTACAATGCACAGCATTCAGTAAGCACAGTCAGCACTGCACACTGCAAAATATACATTTAGTAATTTAGTAAAAACCTGTGCAAGAACAGACTGAGGAGCAGAAGACGCCATCTCAATCTTGGGGCAGTTGATATAAAGATGACAAGGAAACCCAGGCTAAGGCAACCTTCATCAGGTAACATCAGGAGAAGATGACCATGTCTAATGGGGCAAGGCGGACTGGAGGTGGCGCAAGTTCCTGGACCACTAAGGCTGGCTGCTAACCCCAGTGGAGCAAAGGCAGCTTACTCTTGGGAGGAGAACAGCACCTACCTCCTCTGGTCATCCTCTTTCCTTCCTCTTCCTTCCTGCCTCCAAGGTCATCAATGACCTGTTGTCTGCCCAAAGATGGGAGATTCTTATGTTATCAAACATTGATTGGTGAAATTCATCCTCGGTCTTTTCAATAACCAGTCCCAGAGAGCATCTTCTTCTCAGGTGAGCCTTCCTCCCCATCAAAGCCTATCACTCTCCTTTAGATACAGAGAGGAGGGGTGTGTGTGATGTGTGAATGATAACAGCACTCCTTCCGATGATCCTGTGCTGTGAGTCTATGGCAGCACATTTTGTCACTCCAGTCACGCCCATGGAGCCAGTGCCCCTGAAGGGACTATAAGTGGATGCAGGACTCACCTGTGGCGAAGACAACATTCCTCGAGACCAGACGGTGCTCCACGATGGAGAACTGCGGGAGCTCAATCCTTTCCACTCCGGTAACAGCCTTGTCCCCGCCTCGCCAGTAAAACTCAATGTCATCCGTGGTGTAGCCATCTGCCAAGAGAGAAGCAGGGAGACAGCAAACATCACCATTTCGTATAAATGCACGGCTAAATAAACTATCATTAACATGGAGGTTGCGGCTCTGCTATGTTTTGAGTAGATTTGCTTAATGTGCTTGTCTAGGGGAAGTGTCATCAAAGAACTAACTTTCCAATATTCTCATGTTACTGCTGCCATTTTATTTGTACCAGGTTGGTACTGAAAAGTCGAGAGGCTGGGGAGAATGGGTGCTCTGACCAGAGTTCTATTTGCGAAGTGTAACTTCAGAGCTGACCCAGACACCACACAGAGATGAATTTAAAATGTATCTCAACTGCAATGAATAAGATAGTTTTAAGAGAATGAGAATTGAAGTATGAAGAATTCCAGAAAGGCATACTCCTCTCAAGAGCTTCTGAGAGAGTTCAAAGTTCAAATACTGAAGGTGAATTTCACCAGTGGTTGATTACATGAGGTAAGCTCAGAGCAAAAGGAATGTTCTCCTTGGCATATTTGGATGGTTTTATCAGCTCTTCCTGGCCACGAAGTTTGCCAACCTTAGAAATGCCTGTTCTTGGGATATTCCTGACCCTTAGAGATGGGCACAGGTGGTCTCATCAGAAAGAACAGTGGTCGTTAGCTGGATTATAGCTCCAAATCCAGCTTTAGCACAGTGCTCATATTTACAGCGTGATTCATCATGGCTTCTTGAGGATGAGTAAGTGGGGCAATAGGTGCATTCTTACTTGTAACACCCAGGAGTCTCCTAAAACATTAGGTCAATTTTGTCAATAAGATCATTTAAAGCAGAGATTGCGAGAACAATATTATCTCAATATAAGACTTTTTAATTTGAACATAAAATATAAGAAAAAATATTCACTCAATATTTAATGTTAGTCAAACAAATGGACCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAA
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AAAGTGCAAGCTTTTGAAAGTTGGGAGATTTTGTAACTGACTGATGTGGAGCTCTTGCGCTACACCCAATAAATGCAGGACTCAGTATGTGCTGGAAGGAAGACATGATACTGCATTCTGGTAGCCCCATGGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGCAGGATTACTCCACAGTGAGTGTGCTAGCCTCTGTTCTGAGCAGACCTTTAGCTCCTACCACTCAGGGCATGGAACACTTTGAAACCCAGTTTTAGAAGTAACATATCATTTTTTTCAATGCCTCACAGGCCAACGTTCTTGGTTGTGGACACTATTTCTTAATGATAAGCCCAAGTTCCTGCTGGCTCTCATTTCTCCCTGAGGTAAACCTCTCAGTGCGTCTTCTCCGGAGAATGCAGGGACATCTGCAAGACCTCTTGAGGTGGAGGATAAAGTGGCACTGCATAGAAAAAGGATCTGATTGGTGTCTTAAAAATTCAGGCTTTTCCATCTACTTATCATGTACTTTGGCTCTTAGGGGCTGGGGTGGAGAGGAGGGAACGTTGCTGGTGACCTTGACTGATCAATTACTTACTCAGTGACAACTGCCACACACCCAGGACACATTGGGCATTACTCAAGATGGGGGTGGGGAGAGGATGAACCACGCATGACTGACGCAGGTCCCTCCTCAGGGAGGTGTGCCCTTGCAGATGCAGGCACCGTGAGCTGTGAGCAGAGCTGGAAGGTGGTCAGTACTGCCCTGTGGAGATGCACCCCAGCCACTTAATCCAGCCTGGGGGGCTGTGCCGGGTCAAGCAGGTTGAAAAGGCTTCCCAGAGGAAGTAGCGCCAGATGAAGCCTAAGAATGAGTCGGAGCTAGCCACATGAAGGCGAAGCTGGTGGCCATGGGTCAGGAGCATTCAACCAACCCATTCACTGGCTTCATGGTTGTCATCACAGGACTGGGGTCAATTTTTATGCACTCTTTGTTCAAGCTACATGAACAGCTCTGCCTTCTCTTAGCATTTTCAACCAAGAGTTGGTGATCTCTGAAATGCTTTACATTTTACAAAGCACTTTCATTTATTATACCAATTACAATGCACAGCATTCAGTAAGCACAGTCAGCACTGCACACTGCAAAATATACATTTAGTAATTTAGTAAAAACCTGTGCAAGAACAGACTGAGGAGCAGAAGACGCCATCTCAATCTTGGGGCAGTTGATATAAAGATGACAAGGAAACCCAGGCTAAGGCAACCTTCATCAGGTAACATCAGGAGAAGATGACCATGTCTAATGGGGCAAGGCGGACTGGAGGTGGCGCAAGTTCCTGGACCACTAAGGCTGGCTGCTAACCCCAGTGGAGCAAAGGCAGCTTACTCTTGGGAGGAGAACAGCACCTACCTCCTCTGGTCATCCTCTTTCCTTCCTCTTCCTTCCTGCCTCCAAGGTCATCAATGACCTGTTGTCTGCCCAAAGATGGGAGATTCTTATGTTATCAAACATTGATTGGTGAAATTCATCCTCGGTCTTTTCAATAACCAGTCCCAGAGAGCATCTTCTTCTCAGGTGAGCCTTCCTCCCCATCAAAGCCTATCACTCTCCTTTAGATACAGAGAGGAGGGGTGTGTGTGATGTGTGAATGATAACAGCACTCCTTCCGATGATCCTGTGCTGTGAGTCTATGGCAGCACATTTTGTCACTCCAGTCACGCCCATGGAGCCAGTGCCCCTGAAGGGACTATAAGTGGATGCAGGACTCACCTGTGGCCAAGACAACATTCCTCGAGACCAGACGGTGCTCCACGATGGAGAACTGCGGGAGCTCAATCCTTTCCACTCCGGTAACAGCCTTGTCCCCGCCTCGCCAGTAAAACTCAATGTCATCCGTGGTGTAGCCATCTGCCAAGAGAGAAGCAGGGAGACAGCAAACATCACCATTTCGTATAAATGCACGGCTAAATAAACTATCATTAACATGGAGGTTGCGGCTCTGCTATGTTTTGAGTAGATTTGCTTAATGTGCTTGTCTAGGGGAAGTGTCATCAAAGAACTAACTTTCCAATATTCTCATGTTACTGCTGCCATTTTATTTGTACCAGGTTGGTACTGAAAAGTCGAGAGGCTGGGGAGAATGGGTGCTCTGACCAGAGTTCTATTTGCGAAGTGTAACTTCAGAGCTGACCCAGACACCACACAGAGATGAATTTAAAATGTATCTCAACTGCAATGAATAAGATAGTTTTAAGAGAATGAGAATTGAAGTATGAAGAATTCCAGAAAGGCATACTCCTCTCAAGAGCTTCTGAGAGAGTTCAAAGTTCAAATACTGAAGGTGAATTTCACCAGTGGTTGATTACATGAGGTAAGCTCAGAGCAAAAGGAATGTTCTCCTTGGCATATTTGGATGGTTTTATCAGCTCTTCCTGGCCACGAAGTTTGCCAACCTTAGAAATGCCTGTTCTTGGGATATTCCTGACCCTTAGAGATGGGCACAGGTGGTCTCATCAGAAAGAACAGTGGTCGTTAGCTGGATTATAGCTCCAAATCCAGCTTTAGCACAGTGCTCATATTTACAGCGTGATTCATCATGGCTTCTTGAGGATGAGTAAGTGGGGCAATAGGTGCATTCTTACTTGTAACACCCAGGAGTCTCCTAAAACATTAGGTCAATTTTGTCAATAAGATCATTTAAAGCAGAGATTGCGAGAACAATATTATCTCAATATAAGACTTTTTAATTTGAACATAAAATATAAGAAAAAATATTCACTCAATATTTAATGTTAGTCAAACAAATGGACCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAA
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Task1_train_20468
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Consider this mutation in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) on Chromosome 15. Is this a benign change or a disease-causing variant?
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Pathogenic; Developmental and epileptic encephalopathy, 43
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GGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGCAGGATTACTCCACAGTGAGTGTGCTAGCCTCTGTTCTGAGCAGACCTTTAGCTCCTACCACTCAGGGCATGGAACACTTTGAAACCCAGTTTTAGAAGTAACATATCATTTTTTTCAATGCCTCACAGGCCAACGTTCTTGGTTGTGGACACTATTTCTTAATGATAAGCCCAAGTTCCTGCTGGCTCTCATTTCTCCCTGAGGTAAACCTCTCAGTGCGTCTTCTCCGGAGAATGCAGGGACATCTGCAAGACCTCTTGAGGTGGAGGATAAAGTGGCACTGCATAGAAAAAGGATCTGATTGGTGTCTTAAAAATTCAGGCTTTTCCATCTACTTATCATGTACTTTGGCTCTTAGGGGCTGGGGTGGAGAGGAGGGAACGTTGCTGGTGACCTTGACTGATCAATTACTTACTCAGTGACAACTGCCACACACCCAGGACACATTGGGCATTACTCAAGATGGGGGTGGGGAGAGGATGAACCACGCATGACTGACGCAGGTCCCTCCTCAGGGAGGTGTGCCCTTGCAGATGCAGGCACCGTGAGCTGTGAGCAGAGCTGGAAGGTGGTCAGTACTGCCCTGTGGAGATGCACCCCAGCCACTTAATCCAGCCTGGGGGGCTGTGCCGGGTCAAGCAGGTTGAAAAGGCTTCCCAGAGGAAGTAGCGCCAGATGAAGCCTAAGAATGAGTCGGAGCTAGCCACATGAAGGCGAAGCTGGTGGCCATGGGTCAGGAGCATTCAACCAACCCATTCACTGGCTTCATGGTTGTCATCACAGGACTGGGGTCAATTTTTATGCACTCTTTGTTCAAGCTACATGAACAGCTCTGCCTTCTCTTAGCATTTTCAACCAAGAGTTGGTGATCTCTGAAATGCTTTACATTTTACAAAGCACTTTCATTTATTATACCAATTACAATGCACAGCATTCAGTAAGCACAGTCAGCACTGCACACTGCAAAATATACATTTAGTAATTTAGTAAAAACCTGTGCAAGAACAGACTGAGGAGCAGAAGACGCCATCTCAATCTTGGGGCAGTTGATATAAAGATGACAAGGAAACCCAGGCTAAGGCAACCTTCATCAGGTAACATCAGGAGAAGATGACCATGTCTAATGGGGCAAGGCGGACTGGAGGTGGCGCAAGTTCCTGGACCACTAAGGCTGGCTGCTAACCCCAGTGGAGCAAAGGCAGCTTACTCTTGGGAGGAGAACAGCACCTACCTCCTCTGGTCATCCTCTTTCCTTCCTCTTCCTTCCTGCCTCCAAGGTCATCAATGACCTGTTGTCTGCCCAAAGATGGGAGATTCTTATGTTATCAAACATTGATTGGTGAAATTCATCCTCGGTCTTTTCAATAACCAGTCCCAGAGAGCATCTTCTTCTCAGGTGAGCCTTCCTCCCCATCAAAGCCTATCACTCTCCTTTAGATACAGAGAGGAGGGGTGTGTGTGATGTGTGAATGATAACAGCACTCCTTCCGATGATCCTGTGCTGTGAGTCTATGGCAGCACATTTTGTCACTCCAGTCACGCCCATGGAGCCAGTGCCCCTGAAGGGACTATAAGTGGATGCAGGACTCACCTGTGGCGAAGACAACATTCCTCGAGACCAGACGGTGCTCCACGATGGAGAACTGCGGGAGCTCAATCCTTTCCACTCCGGTAACAGCCTTGTCCCCGCCTCGCCAGTAAAACTCAATGTCATCCGTGGTGTAGCCATCTGCCAAGAGAGAAGCAGGGAGACAGCAAACATCACCATTTCGTATAAATGCACGGCTAAATAAACTATCATTAACATGGAGGTTGCGGCTCTGCTATGTTTTGAGTAGATTTGCTTAATGTGCTTGTCTAGGGGAAGTGTCATCAAAGAACTAACTTTCCAATATTCTCATGTTACTGCTGCCATTTTATTTGTACCAGGTTGGTACTGAAAAGTCGAGAGGCTGGGGAGAATGGGTGCTCTGACCAGAGTTCTATTTGCGAAGTGTAACTTCAGAGCTGACCCAGACACCACACAGAGATGAATTTAAAATGTATCTCAACTGCAATGAATAAGATAGTTTTAAGAGAATGAGAATTGAAGTATGAAGAATTCCAGAAAGGCATACTCCTCTCAAGAGCTTCTGAGAGAGTTCAAAGTTCAAATACTGAAGGTGAATTTCACCAGTGGTTGATTACATGAGGTAAGCTCAGAGCAAAAGGAATGTTCTCCTTGGCATATTTGGATGGTTTTATCAGCTCTTCCTGGCCACGAAGTTTGCCAACCTTAGAAATGCCTGTTCTTGGGATATTCCTGACCCTTAGAGATGGGCACAGGTGGTCTCATCAGAAAGAACAGTGGTCGTTAGCTGGATTATAGCTCCAAATCCAGCTTTAGCACAGTGCTCATATTTACAGCGTGATTCATCATGGCTTCTTGAGGATGAGTAAGTGGGGCAATAGGTGCATTCTTACTTGTAACACCCAGGAGTCTCCTAAAACATTAGGTCAATTTTGTCAATAAGATCATTTAAAGCAGAGATTGCGAGAACAATATTATCTCAATATAAGACTTTTTAATTTGAACATAAAATATAAGAAAAAATATTCACTCAATATTTAATGTTAGTCAAACAAATGGACCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGA
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GGGTCTGTGAATAGTTTAAGTGTTCTGCCACATACCTGTAGTGCCTATTTTCTCCAGACATTTTTAGGATGTGTTCTACCACATACAGACTGAAAAGAAAGATGGGGATTGCACCTGGAGGAAGGTGGTTCTAAGTGCTTTCAAGTTAGTGGATTCAGGAAGTCATTCTAAGTGGCTGTGGTCCCCCACGGAAGCAGCATACCCTCTACAAACACCTCACCTGGCTTTCTAATGAGGCTGCATGAAAATGCAGTAAGAAATCCTCATAGCAGCACGCTCATGGCCATTTCTGCAACTTTCTAGGCAAAGGCTGCATGGGCAGGATTACTCCACAGTGAGTGTGCTAGCCTCTGTTCTGAGCAGACCTTTAGCTCCTACCACTCAGGGCATGGAACACTTTGAAACCCAGTTTTAGAAGTAACATATCATTTTTTTCAATGCCTCACAGGCCAACGTTCTTGGTTGTGGACACTATTTCTTAATGATAAGCCCAAGTTCCTGCTGGCTCTCATTTCTCCCTGAGGTAAACCTCTCAGTGCGTCTTCTCCGGAGAATGCAGGGACATCTGCAAGACCTCTTGAGGTGGAGGATAAAGTGGCACTGCATAGAAAAAGGATCTGATTGGTGTCTTAAAAATTCAGGCTTTTCCATCTACTTATCATGTACTTTGGCTCTTAGGGGCTGGGGTGGAGAGGAGGGAACGTTGCTGGTGACCTTGACTGATCAATTACTTACTCAGTGACAACTGCCACACACCCAGGACACATTGGGCATTACTCAAGATGGGGGTGGGGAGAGGATGAACCACGCATGACTGACGCAGGTCCCTCCTCAGGGAGGTGTGCCCTTGCAGATGCAGGCACCGTGAGCTGTGAGCAGAGCTGGAAGGTGGTCAGTACTGCCCTGTGGAGATGCACCCCAGCCACTTAATCCAGCCTGGGGGGCTGTGCCGGGTCAAGCAGGTTGAAAAGGCTTCCCAGAGGAAGTAGCGCCAGATGAAGCCTAAGAATGAGTCGGAGCTAGCCACATGAAGGCGAAGCTGGTGGCCATGGGTCAGGAGCATTCAACCAACCCATTCACTGGCTTCATGGTTGTCATCACAGGACTGGGGTCAATTTTTATGCACTCTTTGTTCAAGCTACATGAACAGCTCTGCCTTCTCTTAGCATTTTCAACCAAGAGTTGGTGATCTCTGAAATGCTTTACATTTTACAAAGCACTTTCATTTATTATACCAATTACAATGCACAGCATTCAGTAAGCACAGTCAGCACTGCACACTGCAAAATATACATTTAGTAATTTAGTAAAAACCTGTGCAAGAACAGACTGAGGAGCAGAAGACGCCATCTCAATCTTGGGGCAGTTGATATAAAGATGACAAGGAAACCCAGGCTAAGGCAACCTTCATCAGGTAACATCAGGAGAAGATGACCATGTCTAATGGGGCAAGGCGGACTGGAGGTGGCGCAAGTTCCTGGACCACTAAGGCTGGCTGCTAACCCCAGTGGAGCAAAGGCAGCTTACTCTTGGGAGGAGAACAGCACCTACCTCCTCTGGTCATCCTCTTTCCTTCCTCTTCCTTCCTGCCTCCAAGGTCATCAATGACCTGTTGTCTGCCCAAAGATGGGAGATTCTTATGTTATCAAACATTGATTGGTGAAATTCATCCTCGGTCTTTTCAATAACCAGTCCCAGAGAGCATCTTCTTCTCAGGTGAGCCTTCCTCCCCATCAAAGCCTATCACTCTCCTTTAGATACAGAGAGGAGGGGTGTGTGTGATGTGTGAATGATAACAGCACTCCTTCCGATGATCCTGTGCTGTGAGTCTATGGCAGCACATTTTGTCACTCCAGTCACGCCCATGGAGCCAGTGCCCCTGAAGGGACTATAAGTGGATGCAGGACTCACCTGTGGCGAAGACAACATTCCTCGAGACCAGACGGTGCTCCACGATGGAGAACTGCGGGAGCTCAATCCTTTCCACTCCGGTAACAGCCTTGTCCCCGCCTCGCCAGTAAAACTCAATGTCATCCGTGGTGTAGCCAACTGCCAAGAGAGAAGCAGGGAGACAGCAAACATCACCATTTCGTATAAATGCACGGCTAAATAAACTATCATTAACATGGAGGTTGCGGCTCTGCTATGTTTTGAGTAGATTTGCTTAATGTGCTTGTCTAGGGGAAGTGTCATCAAAGAACTAACTTTCCAATATTCTCATGTTACTGCTGCCATTTTATTTGTACCAGGTTGGTACTGAAAAGTCGAGAGGCTGGGGAGAATGGGTGCTCTGACCAGAGTTCTATTTGCGAAGTGTAACTTCAGAGCTGACCCAGACACCACACAGAGATGAATTTAAAATGTATCTCAACTGCAATGAATAAGATAGTTTTAAGAGAATGAGAATTGAAGTATGAAGAATTCCAGAAAGGCATACTCCTCTCAAGAGCTTCTGAGAGAGTTCAAAGTTCAAATACTGAAGGTGAATTTCACCAGTGGTTGATTACATGAGGTAAGCTCAGAGCAAAAGGAATGTTCTCCTTGGCATATTTGGATGGTTTTATCAGCTCTTCCTGGCCACGAAGTTTGCCAACCTTAGAAATGCCTGTTCTTGGGATATTCCTGACCCTTAGAGATGGGCACAGGTGGTCTCATCAGAAAGAACAGTGGTCGTTAGCTGGATTATAGCTCCAAATCCAGCTTTAGCACAGTGCTCATATTTACAGCGTGATTCATCATGGCTTCTTGAGGATGAGTAAGTGGGGCAATAGGTGCATTCTTACTTGTAACACCCAGGAGTCTCCTAAAACATTAGGTCAATTTTGTCAATAAGATCATTTAAAGCAGAGATTGCGAGAACAATATTATCTCAATATAAGACTTTTTAATTTGAACATAAAATATAAGAAAAAATATTCACTCAATATTTAATGTTAGTCAAACAAATGGACCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGA
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Task1_train_20469
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A mutation on Chromosome 15 affecting GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) has been found. Is it harmful or harmless? What disease, if any, does it cause?
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 5
|
CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGAAAGCACAGCTCTCAGAAAACACGACAGTGATGTAGGGTGGAAGTGAGGGGCACCATGGGGCCAGCCTCACCCAGGATCTACACTAGCCTACCACCAGTGCAGTTTCTCAATATGTTCATTCACAAAGACATTCGCTTCTTACCACAATTGTTTCAAGTGGGACTGCAAAGTCAAAGTCATTTATCCCCCTAAAATTCAGTATAAATATTGACAAGCCTAAATCCAATTGAGACTAGTTATAAACCAGTTCATAATAGGCCAAGATAAGCAACAACAAAAACCATATCCTGATATGCCAGGAGGTGTAGTTTAGGTAGCAGGAGGGACATTGTTAGATGTTATGGATGCAGTTCTCATCTCTCATATAGGAGTACTCAATGCTGAATTATCAATAAAGCATCTGAATACTACTCAAATTGAAGAAAATTGCCGAGATGCAGAAATAGCCTGCTTGTCAAGCCGAGTTCCTGATGGGAAATGAGTTTTACTCTGACCGCCCAGGGTCCCAGCAGTGCAGCCACTCATGAGTGATGAAGCATATTGTAGGAAAATAGCATCTCGGTGTTTGCTCTCCTCTCACTGAATGGACCGAAATGAGGGGCATTTGTTTTCTTCTATTTCAGCGCAGCAAACAGACTCTCTTAATCAGATTAGAATGAAGAACTCTTTTATACTGAGTCTCTCTCTCTCTCTGTGTTTCTCTCTCTGTGTCTTCCCCTCTTTCTATGTCAAAAAAATTATGGATGCCTTGAAAAAAGATGCTAAATAATGACAAAAGGATCAAAAGTACAAATAGGAGGAGAAAGAAACACAGATACGGATACACACAGCTTTCAATTTCCAGAGTGCAGTTCTGCTCGTCCAGGGGGTATCTCCTGAGGTCCATCATGCATGCTGCTGTCGTGGTGATTCTGAAATACACAGGGTGAGGGAAGATATTAAAGAAGGGCTGAGAAATGTATCAGGGAGACTCCTCTTAGATAAACGAGTAAGCCCCTGTGGGAACCCTGCCCAAAGTACGCCTGGCTAAACATCATTCACTATATATAGAGAGAAACTTGAGTAAATAAGAAACTCTTTTCAGCATAATATAGACCAGATTTATCAAGGAAAAAAAAAACACAAAACTTTATTTTATTATATATTTTTAATCATTTATTTTTTGATTGACATAAAAATTGTATACATTTGTAATATACAGCATGATGTTTTGAAATATATATACACTGTGAAATAGTTAAATTGAGGTAATTAACAAATGTATTGTATCACCTATTTTTTTTTTTTTTTGATCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCACTGGCATGATCTCAGATCACTGCAAGCTCCAACTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCTTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCCTGTATCACCCATTTAGCTCTTTTTGTGTGTGACGAAAATGCAAAATCTACCCTCTTGCAATTTTTGAGTATACAGCACTTTGTTATTAGCTATAGTCACCATATTGTACCAAAAACTTACTAGGTCTTATTGACTTTGGATAATCAGTGGCAGAGAAAGGGGTTTCCAAGGGAGTTCTTACCTTCAATTTTTGTTTCTCTTCTTGTCTATAGGCTCTCTAGCCTCTCTACTACAGACAGAGCCTATGTGTGGGACACCACCAATTAGGTTAAGACTGAGGTCTTTGACTTTCCACGGGAAGTGTTAAAGTAGCTACAGATACACTTTGGAACTCTAAACCTCACCTCTGCTTCTTTCTATTTTATTATAGTTGTCTGTTGGGCTGGATTCTGCTATTACAGAAATTGTTTTACTGTGTGATCATCTATCTTTTCAAAACAAATATTTGGCTCCTATTTTATCAATTATGAACCAAAATTGGGTGGGTAAGTTCTCTTGGGGCCAGCTAAAGCTATGGAAATAATTACTTCCCAAAAGCAGTTAAGGCTCCACCATGCAATGGTTAAGCCAACCCTACACTGAGAAACAATACTTCTAGAAATGTCAAGTCCACTTCCTACTCTGCCTGCAGCCTTCTCTTAGGGAGACCAACTTACTCACAGCTGCTTCTTTGAAAACGCAACTATTAGGGTTATTATATTTTACACTACATATCTCTAGAACCCCACCCTTTCCCCACCACTGTCAAAGGTGACTGGACTGTGGTGGGTTCCTGAGTCAAAGACAGCAAGCCATTAGTGGGTGAGAGATACATGACATGGCCTGAGTTGAAAGGCAGAGTGGAGCTAAAGAGACTCTCTTCCATAGGAATGAATTGAACAGTAAAGATAAGAGTGGAAGTGCATCTGCAAGGCCATGGTTTACAGGCTTGTGATGCTGTTTTCAAACTGGAGAGCAAAGGATGAGAAAGCATCATAGAGGGAGAGAAGGTACAGCAAGTAGAGTTGAGGTTGCAGTCGTAGTTGTGCCCCAGGCCACAGCGGGTGGCCTTGCTGAATGTGTGCTCCACCTCTCCAGGGAGCAGCTTCTGAAAGCCTGTGCAGGAGTTGTGTAACTGGCAGTCCTGGCTATGCCCATTCAGTGATGGGGAGTAAGAATGAAAATGTGAGAATGCTTTCTCCTGAGATCCCTAGAGTCACCTTCAATCCCCAGCTGTCCTTCAGGTTTCATCTTTCTTGAAGCCCAGTGTTGAGCTTTTTCTGAATGATCTTCATTATGAATATTCACAACAAACCTACTAATGCTGCAGGTAATGAGCAAGCCCGACTCTTACCAACAGATCCTAATCCAAACACCTGTAAAACACTAGACATGTGCC
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CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGAAAGCACAGCTCTCAGAAAACACGACAGTGATGTAGGGTGGAAGTGAGGGGCACCATGGGGCCAGCCTCACCCAGGATCTACACTAGCCTACCACCAGTGCAGTTTCTCAATATGTTCATTCACAAAGACATTCGCTTCTTACCACAATTGTTTCAAGTGGGACTGCAAAGTCAAAGTCATTTATCCCCCTAAAATTCAGTATAAATATTGACAAGCCTAAATCCAATTGAGACTAGTTATAAACCAGTTCATAATAGGCCAAGATAAGCAACAACAAAAACCATATCCTGATATGCCAGGAGGTGTAGTTTAGGTAGCAGGAGGGACATTGTTAGATGTTATGGATGCAGTTCTCATCTCTCATATAGGAGTACTCAATGCTGAATTATCAATAAAGCATCTGAATACTACTCAAATTGAAGAAAATTGCCGAGATGCAGAAATAGCCTGCTTGTCAAGCCGAGTTCCTGATGGGAAATGAGTTTTACTCTGACCGCCCAGGGTCCCAGCAGTGCAGCCACTCATGAGTGATGAAGCATATTGTAGGAAAATAGCATCTCGGTGTTTGCTCTCCTCTCACTGAATGGACCGAAATGAGGGGCATTTGTTTTCTTCTATTTCAGCGCAGCAAACAGACTCTCTTAATCAGATTAGAATGAAGAACTCTTTTATACTGAGTCTCTCTCTCTCTCTGTGTTTCTCTCTCTGTGTCTTCCCCTCTTTCTATGTCAAAAAAATTATGGATGCCTTGAAAAAAGATGCTAAATAATGACAAAAGGATCAAAAGTACAAATAGGAGGAGAAAGAAACACAGATACGGATACACACAGCTTTCAATTTCCAGAGTGCAGTTCTGCTCGTCCAGGGGGTATCTCCTGAGGTCCATCATGCATGCTGCTGTCATGGTGATTCTGAAATACACAGGGTGAGGGAAGATATTAAAGAAGGGCTGAGAAATGTATCAGGGAGACTCCTCTTAGATAAACGAGTAAGCCCCTGTGGGAACCCTGCCCAAAGTACGCCTGGCTAAACATCATTCACTATATATAGAGAGAAACTTGAGTAAATAAGAAACTCTTTTCAGCATAATATAGACCAGATTTATCAAGGAAAAAAAAAACACAAAACTTTATTTTATTATATATTTTTAATCATTTATTTTTTGATTGACATAAAAATTGTATACATTTGTAATATACAGCATGATGTTTTGAAATATATATACACTGTGAAATAGTTAAATTGAGGTAATTAACAAATGTATTGTATCACCTATTTTTTTTTTTTTTTGATCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCACTGGCATGATCTCAGATCACTGCAAGCTCCAACTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCTTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCCTGTATCACCCATTTAGCTCTTTTTGTGTGTGACGAAAATGCAAAATCTACCCTCTTGCAATTTTTGAGTATACAGCACTTTGTTATTAGCTATAGTCACCATATTGTACCAAAAACTTACTAGGTCTTATTGACTTTGGATAATCAGTGGCAGAGAAAGGGGTTTCCAAGGGAGTTCTTACCTTCAATTTTTGTTTCTCTTCTTGTCTATAGGCTCTCTAGCCTCTCTACTACAGACAGAGCCTATGTGTGGGACACCACCAATTAGGTTAAGACTGAGGTCTTTGACTTTCCACGGGAAGTGTTAAAGTAGCTACAGATACACTTTGGAACTCTAAACCTCACCTCTGCTTCTTTCTATTTTATTATAGTTGTCTGTTGGGCTGGATTCTGCTATTACAGAAATTGTTTTACTGTGTGATCATCTATCTTTTCAAAACAAATATTTGGCTCCTATTTTATCAATTATGAACCAAAATTGGGTGGGTAAGTTCTCTTGGGGCCAGCTAAAGCTATGGAAATAATTACTTCCCAAAAGCAGTTAAGGCTCCACCATGCAATGGTTAAGCCAACCCTACACTGAGAAACAATACTTCTAGAAATGTCAAGTCCACTTCCTACTCTGCCTGCAGCCTTCTCTTAGGGAGACCAACTTACTCACAGCTGCTTCTTTGAAAACGCAACTATTAGGGTTATTATATTTTACACTACATATCTCTAGAACCCCACCCTTTCCCCACCACTGTCAAAGGTGACTGGACTGTGGTGGGTTCCTGAGTCAAAGACAGCAAGCCATTAGTGGGTGAGAGATACATGACATGGCCTGAGTTGAAAGGCAGAGTGGAGCTAAAGAGACTCTCTTCCATAGGAATGAATTGAACAGTAAAGATAAGAGTGGAAGTGCATCTGCAAGGCCATGGTTTACAGGCTTGTGATGCTGTTTTCAAACTGGAGAGCAAAGGATGAGAAAGCATCATAGAGGGAGAGAAGGTACAGCAAGTAGAGTTGAGGTTGCAGTCGTAGTTGTGCCCCAGGCCACAGCGGGTGGCCTTGCTGAATGTGTGCTCCACCTCTCCAGGGAGCAGCTTCTGAAAGCCTGTGCAGGAGTTGTGTAACTGGCAGTCCTGGCTATGCCCATTCAGTGATGGGGAGTAAGAATGAAAATGTGAGAATGCTTTCTCCTGAGATCCCTAGAGTCACCTTCAATCCCCAGCTGTCCTTCAGGTTTCATCTTTCTTGAAGCCCAGTGTTGAGCTTTTTCTGAATGATCTTCATTATGAATATTCACAACAAACCTACTAATGCTGCAGGTAATGAGCAAGCCCGACTCTTACCAACAGATCCTAATCCAAACACCTGTAAAACACTAGACATGTGCC
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Task1_train_20470
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A variant on Chromosome 15 in gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 1
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CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGAAAGCACAGCTCTCAGAAAACACGACAGTGATGTAGGGTGGAAGTGAGGGGCACCATGGGGCCAGCCTCACCCAGGATCTACACTAGCCTACCACCAGTGCAGTTTCTCAATATGTTCATTCACAAAGACATTCGCTTCTTACCACAATTGTTTCAAGTGGGACTGCAAAGTCAAAGTCATTTATCCCCCTAAAATTCAGTATAAATATTGACAAGCCTAAATCCAATTGAGACTAGTTATAAACCAGTTCATAATAGGCCAAGATAAGCAACAACAAAAACCATATCCTGATATGCCAGGAGGTGTAGTTTAGGTAGCAGGAGGGACATTGTTAGATGTTATGGATGCAGTTCTCATCTCTCATATAGGAGTACTCAATGCTGAATTATCAATAAAGCATCTGAATACTACTCAAATTGAAGAAAATTGCCGAGATGCAGAAATAGCCTGCTTGTCAAGCCGAGTTCCTGATGGGAAATGAGTTTTACTCTGACCGCCCAGGGTCCCAGCAGTGCAGCCACTCATGAGTGATGAAGCATATTGTAGGAAAATAGCATCTCGGTGTTTGCTCTCCTCTCACTGAATGGACCGAAATGAGGGGCATTTGTTTTCTTCTATTTCAGCGCAGCAAACAGACTCTCTTAATCAGATTAGAATGAAGAACTCTTTTATACTGAGTCTCTCTCTCTCTCTGTGTTTCTCTCTCTGTGTCTTCCCCTCTTTCTATGTCAAAAAAATTATGGATGCCTTGAAAAAAGATGCTAAATAATGACAAAAGGATCAAAAGTACAAATAGGAGGAGAAAGAAACACAGATACGGATACACACAGCTTTCAATTTCCAGAGTGCAGTTCTGCTCGTCCAGGGGGTATCTCCTGAGGTCCATCATGCATGCTGCTGTCGTGGTGATTCTGAAATACACAGGGTGAGGGAAGATATTAAAGAAGGGCTGAGAAATGTATCAGGGAGACTCCTCTTAGATAAACGAGTAAGCCCCTGTGGGAACCCTGCCCAAAGTACGCCTGGCTAAACATCATTCACTATATATAGAGAGAAACTTGAGTAAATAAGAAACTCTTTTCAGCATAATATAGACCAGATTTATCAAGGAAAAAAAAAACACAAAACTTTATTTTATTATATATTTTTAATCATTTATTTTTTGATTGACATAAAAATTGTATACATTTGTAATATACAGCATGATGTTTTGAAATATATATACACTGTGAAATAGTTAAATTGAGGTAATTAACAAATGTATTGTATCACCTATTTTTTTTTTTTTTTGATCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCACTGGCATGATCTCAGATCACTGCAAGCTCCAACTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCTTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCCTGTATCACCCATTTAGCTCTTTTTGTGTGTGACGAAAATGCAAAATCTACCCTCTTGCAATTTTTGAGTATACAGCACTTTGTTATTAGCTATAGTCACCATATTGTACCAAAAACTTACTAGGTCTTATTGACTTTGGATAATCAGTGGCAGAGAAAGGGGTTTCCAAGGGAGTTCTTACCTTCAATTTTTGTTTCTCTTCTTGTCTATAGGCTCTCTAGCCTCTCTACTACAGACAGAGCCTATGTGTGGGACACCACCAATTAGGTTAAGACTGAGGTCTTTGACTTTCCACGGGAAGTGTTAAAGTAGCTACAGATACACTTTGGAACTCTAAACCTCACCTCTGCTTCTTTCTATTTTATTATAGTTGTCTGTTGGGCTGGATTCTGCTATTACAGAAATTGTTTTACTGTGTGATCATCTATCTTTTCAAAACAAATATTTGGCTCCTATTTTATCAATTATGAACCAAAATTGGGTGGGTAAGTTCTCTTGGGGCCAGCTAAAGCTATGGAAATAATTACTTCCCAAAAGCAGTTAAGGCTCCACCATGCAATGGTTAAGCCAACCCTACACTGAGAAACAATACTTCTAGAAATGTCAAGTCCACTTCCTACTCTGCCTGCAGCCTTCTCTTAGGGAGACCAACTTACTCACAGCTGCTTCTTTGAAAACGCAACTATTAGGGTTATTATATTTTACACTACATATCTCTAGAACCCCACCCTTTCCCCACCACTGTCAAAGGTGACTGGACTGTGGTGGGTTCCTGAGTCAAAGACAGCAAGCCATTAGTGGGTGAGAGATACATGACATGGCCTGAGTTGAAAGGCAGAGTGGAGCTAAAGAGACTCTCTTCCATAGGAATGAATTGAACAGTAAAGATAAGAGTGGAAGTGCATCTGCAAGGCCATGGTTTACAGGCTTGTGATGCTGTTTTCAAACTGGAGAGCAAAGGATGAGAAAGCATCATAGAGGGAGAGAAGGTACAGCAAGTAGAGTTGAGGTTGCAGTCGTAGTTGTGCCCCAGGCCACAGCGGGTGGCCTTGCTGAATGTGTGCTCCACCTCTCCAGGGAGCAGCTTCTGAAAGCCTGTGCAGGAGTTGTGTAACTGGCAGTCCTGGCTATGCCCATTCAGTGATGGGGAGTAAGAATGAAAATGTGAGAATGCTTTCTCCTGAGATCCCTAGAGTCACCTTCAATCCCCAGCTGTCCTTCAGGTTTCATCTTTCTTGAAGCCCAGTGTTGAGCTTTTTCTGAATGATCTTCATTATGAATATTCACAACAAACCTACTAATGCTGCAGGTAATGAGCAAGCCCGACTCTTACCAACAGATCCTAATCCAAACACCTGTAAAACACTAGACATGTGCC
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CCAAAGCTGTAGGGTGGGGAAGAGTTGCTCCCCACAGCTAATGCCACCTTCCTGGTCCTACCTACTCTCCTCTCTTTAATAAAACATGCATCTTTCCACATGGTAAGTGGCAGACTCTACTTAAAACTTGCAAATGCTTCCTAGTGAAATTATTAATAGCAAAACAAGTACAAACTCCTTACAAGAACCTCAAGAACCTACAGGCCTGACCCCTGGGCCTTCATCCCTCCTTTCTCATTCACCCAGCCAGGCCTCACTGGTCTCTTATTGCAGCTCAGACCAGCGTGCTCTGCCCAGGGCTCCTGGGTCCTGTGCAGGGACACACCTCCAGATCTTCACATAGCTCATTCTTTCCCACATTTGCATCTTGGCTGAAATAAAACCTTTTGCAGAAGCCTTCCCTGGCATTCCATCTCACAGGCAACCTCGCAATCACTCACTATGCTTTTATCAGACTTTACTTTCTTCAAAGCACTACCACTATTTGATTTTGGTCTAATGGCTTCCTGTCTTTTGTGGATTATAAGCTCCACAAAGGCAGGTGTTTTGTCTGTCATCTCTAAATATCCCTTTGCTTACAACCGTGCCTACATAATGTCCAGTAAGTATTTGTTGGATAAACTTTGGGTTGATGAATTTGCCCTCAAGTGTGGAAATAAAGACACCATTTTTCTTTTATCTATTCCCAATATGGAGACATGTGTAGTCAGACCAGAAGAAAATCAGGAGAATCCCTTCTTCCACTCAAATGATTAAACCATGATTCTCTGCAGAGAAGGGACCTCACACATGGAGAGAACCTCTTCTACAGCAGATCTTCCTGCTCATCATACACCACTGCCCATACACCACAGCGGCAGAGTCCTCTCTCTCAGGAGTCATGCACTGTGTGACTTGACAGTTGAAACAGGAGCTGCTGCCTTACTTAGATTCCAAATTGGCCTTCCTGAAACTTCCTCCACTGGAGTTGTGCCCTCACTGGAGTTGTGCTCTCTGGCCACACTGAAGCCAGTTAACTTCTTAAGATCATCCTTCAAATACTGGGAAATCATCTTTTCCCTGAGCCTTCTGTCCTCTAAGGTAAAAGTCCCCAGAGAATTCAACTTTGCATCACTTGACATGGCTTATGTCTTTCTTATTCTGTGAAAGCACAGCTCTCAGAAAACACGACAGTGATGTAGGGTGGAAGTGAGGGGCACCATGGGGCCAGCCTCACCCAGGATCTACACTAGCCTACCACCAGTGCAGTTTCTCAATATGTTCATTCACAAAGACATTCGCTTCTTACCACAATTGTTTCAAGTGGGACTGCAAAGTCAAAGTCATTTATCCCCCTAAAATTCAGTATAAATATTGACAAGCCTAAATCCAATTGAGACTAGTTATAAACCAGTTCATAATAGGCCAAGATAAGCAACAACAAAAACCATATCCTGATATGCCAGGAGGTGTAGTTTAGGTAGCAGGAGGGACATTGTTAGATGTTATGGATGCAGTTCTCATCTCTCATATAGGAGTACTCAATGCTGAATTATCAATAAAGCATCTGAATACTACTCAAATTGAAGAAAATTGCCGAGATGCAGAAATAGCCTGCTTGTCAAGCCGAGTTCCTGATGGGAAATGAGTTTTACTCTGACCGCCCAGGGTCCCAGCAGTGCAGCCACTCATGAGTGATGAAGCATATTGTAGGAAAATAGCATCTCGGTGTTTGCTCTCCTCTCACTGAATGGACCGAAATGAGGGGCATTTGTTTTCTTCTATTTCAGCGCAGCAAACAGACTCTCTTAATCAGATTAGAATGAAGAACTCTTTTATACTGAGTCTCTCTCTCTCTCTGTGTTTCTCTCTCTGTGTCTTCCCCTCTTTCTATGTCAAAAAAATTATGGATGCCTTGAAAAAAGATGCTAAATAATGACAAAAGGATCAAAAGTACAAATAGGAGGAGAAAGAAACACAGATACGGATACACACAGCTTTCAATTTCCAGAGTGCAGTTCTGCTCGTCCAGGGGGTATCTCCTGAGGTCCATCATGCATGCTGCTGTCATGGTGATTCTGAAATACACAGGGTGAGGGAAGATATTAAAGAAGGGCTGAGAAATGTATCAGGGAGACTCCTCTTAGATAAACGAGTAAGCCCCTGTGGGAACCCTGCCCAAAGTACGCCTGGCTAAACATCATTCACTATATATAGAGAGAAACTTGAGTAAATAAGAAACTCTTTTCAGCATAATATAGACCAGATTTATCAAGGAAAAAAAAAACACAAAACTTTATTTTATTATATATTTTTAATCATTTATTTTTTGATTGACATAAAAATTGTATACATTTGTAATATACAGCATGATGTTTTGAAATATATATACACTGTGAAATAGTTAAATTGAGGTAATTAACAAATGTATTGTATCACCTATTTTTTTTTTTTTTTGATCAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCACTGGCATGATCTCAGATCACTGCAAGCTCCAACTCCCAGGTTCACGCCGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCAGCTAATTTTTTTGTATTTTTTAGTACAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCTTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCACCTGGCCTGTATCACCCATTTAGCTCTTTTTGTGTGTGACGAAAATGCAAAATCTACCCTCTTGCAATTTTTGAGTATACAGCACTTTGTTATTAGCTATAGTCACCATATTGTACCAAAAACTTACTAGGTCTTATTGACTTTGGATAATCAGTGGCAGAGAAAGGGGTTTCCAAGGGAGTTCTTACCTTCAATTTTTGTTTCTCTTCTTGTCTATAGGCTCTCTAGCCTCTCTACTACAGACAGAGCCTATGTGTGGGACACCACCAATTAGGTTAAGACTGAGGTCTTTGACTTTCCACGGGAAGTGTTAAAGTAGCTACAGATACACTTTGGAACTCTAAACCTCACCTCTGCTTCTTTCTATTTTATTATAGTTGTCTGTTGGGCTGGATTCTGCTATTACAGAAATTGTTTTACTGTGTGATCATCTATCTTTTCAAAACAAATATTTGGCTCCTATTTTATCAATTATGAACCAAAATTGGGTGGGTAAGTTCTCTTGGGGCCAGCTAAAGCTATGGAAATAATTACTTCCCAAAAGCAGTTAAGGCTCCACCATGCAATGGTTAAGCCAACCCTACACTGAGAAACAATACTTCTAGAAATGTCAAGTCCACTTCCTACTCTGCCTGCAGCCTTCTCTTAGGGAGACCAACTTACTCACAGCTGCTTCTTTGAAAACGCAACTATTAGGGTTATTATATTTTACACTACATATCTCTAGAACCCCACCCTTTCCCCACCACTGTCAAAGGTGACTGGACTGTGGTGGGTTCCTGAGTCAAAGACAGCAAGCCATTAGTGGGTGAGAGATACATGACATGGCCTGAGTTGAAAGGCAGAGTGGAGCTAAAGAGACTCTCTTCCATAGGAATGAATTGAACAGTAAAGATAAGAGTGGAAGTGCATCTGCAAGGCCATGGTTTACAGGCTTGTGATGCTGTTTTCAAACTGGAGAGCAAAGGATGAGAAAGCATCATAGAGGGAGAGAAGGTACAGCAAGTAGAGTTGAGGTTGCAGTCGTAGTTGTGCCCCAGGCCACAGCGGGTGGCCTTGCTGAATGTGTGCTCCACCTCTCCAGGGAGCAGCTTCTGAAAGCCTGTGCAGGAGTTGTGTAACTGGCAGTCCTGGCTATGCCCATTCAGTGATGGGGAGTAAGAATGAAAATGTGAGAATGCTTTCTCCTGAGATCCCTAGAGTCACCTTCAATCCCCAGCTGTCCTTCAGGTTTCATCTTTCTTGAAGCCCAGTGTTGAGCTTTTTCTGAATGATCTTCATTATGAATATTCACAACAAACCTACTAATGCTGCAGGTAATGAGCAAGCCCGACTCTTACCAACAGATCCTAATCCAAACACCTGTAAAACACTAGACATGTGCC
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Task1_train_20471
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A variant affecting Chromosome 15, within the gene GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 1
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ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAATTCCTAGATTAATTTTTGTTGATATTTGCTTTTTTGCTCTTCCCCATCACACACACATGTGCACACACCTACAACACACACATTACCACACAAAACACACACCACACACACATCCACAATGCACACCAACACAACACATACCACACACACAAACCCAACACACACCACACACATCACATACCGCACACACCCAAAACTCAACACACACCCACAGACACAAACTCACATATCAGCTTCTTTCACTTTAGTTTTTTTGGGTGTGGGGGCAGGTAAATGGCTCCTCATTCTACATTCCCAGGACTTCTGAATAGTCTTTTGTATAGCTGATGCACTTATCAGAACCTGAACCTCCGGAGCTTTACAACCACAGGTCTCATTTTCAGGCAAAAACATAAAATGCTGAAAACTTCCCAAAGAAACTCCAGGATAGACTCTTTTTGAAGGAACACGATGGCTTGGTTGACATGTGCCACTTAACACTAAAAACATCTGATTTTGCTAAAATCCCAAATTCTGCTCTCTATACTGCGGTTCTGAGAAAGTCACTCACATGTTCTATTTGAGGCTATGTTAAATCATTCACTCTACCCGTCTTGAGGCATGAAAGTCCCAGGGATGTGGATTTAAATATATACTGTTATGATTTCGCTTATAGCTGTTAAAGTCTTAGTTCAAAGCCTCTGGGCTCACAACACTTTCAGATACATCTTTTCTCTAAGCTATCCACATGTGTCCCACTCAACACTGAGAGCCACTGCTAGAGGGTCTCAAGGGCACTTTTAGGCCAGGAGAGCAAGAAACAGACACACATACACACAAAATACTGTTCTAAATAAAACAACCCAAAAATCAGGCAAAAATCTATGCAAGAGACAGAAGGTTTTTAAGAGCACCATTTAGCAAGGTGATATTCAAAATAATTGACCACCAGCTGGGATGGAGCTCTATGGAAAGGCCTGGCGGTTTCCAGGGCAACCAGGGAAGCCCAGGGCCTCCTCACTGGGACTCAGGAAGGCAGCCTGGTTTCCTGATTTGAGTGATTATATTATGAGAGCTGGAGAGAGATGTTTCTCATCAGGAAATCTCTCACTTAGTCATTCCCATAAATATTCGTGGCACTACCTCAATAAAGCTCCGTAGAGAGTAAACCCTACAATCTGCGCAACAGACATTTTTTTTTCAACTGTGCAGACAGCTTTGAAAAAAACTTCACTGAAGCCACTGCAGTGTCAGGGCGATATTAATTACAGGCCTCTGTGGCTATGATATGGAAAATCCATCCTGAGGGAATCTGTGTTCTTAGACATGGCAATCCAATTATATACAATTGATCCAAAGGTGGCTGTTTTTCAACTGCTTGTGACTATTTACAGTAACAGTAATGCCCCAAATTTTATGGTTATGAGATTTTTTTTTCTGCAAAGCTTTAGTGCTTCATAGATGCTTCCTAATTTATCTGAGGTCATTGCCTCACTTACAATAATCATCTCAAGTGAGATATTCAACACCCATGCACCATGCAACAGCAAAATTGGTCCTGAAGAGGCACACAGACCTGAGCCCATACAGCACTGTCCCATCAGGGTGAAGACGGATCATGCGGTTTTTCACTGTCACTCCATGCACAAATGACTTTTTGTCATTTAAGAAATATGTGTCGGGCACCCATAGCTGGTCAGCCACTCGATTGTCAAGCGTGAGGTTGAGAGGGATCCCAGAATAGGCGAGCCTTTTATCTCTCCAATATTGTTGAAAATACATGGTTAAGGTATAATCCTGGGGGGAAAAGAAAAGAAAGAAAGTTAGTTTGTACCCAGCCACAGGTGTATTTCCTCCACGACCAGCCAAATTCAGGTTGCAATCTAGGCTCTACAGTGAATAACCAGGAGAAACGGATGCCATTTTTATGCAGAATGGGAAGCAATGGCTGCTTTCTTGTGAATGCAAATACCAGTTTTAATAGGTACATGAGTCTGTGTGTGTCACGTATAGATGTCCTCTGTTTTACTTAGGTTAAGAAGCAGACTAGACAAACTGGCATTTAACAGATAACAGCATAGAAATAAACGGGAAAAAGTCATCGTAAAATCAGGTTGCTGGCGGGGAACTAGATTGTTCCCATGGATGTTCTCTTTCCCACCAGGCAGACAGGTGCTTTAACAACCTACAACAGATGAGCTCTATCTACAAACTCTCTCTGCAATTTGAGCCACTTTCCTCTGGTTCTGCCCTCCATGAGGGCTATAAATACAAACCTTCCATAAACATCCTCTGGAGACACAAGGGACTGTGGGAGGTCTCCATGCCCTACCTATTGTATTTCCTTTTTCCTCCAGCTTGCCGTGGCCATTTCTACATTAACTGGACCATAAAATCACCCGGAGATGATGACATATTCACCTGAGGAAAATGGGAACCTAAGGTCCAAGCAGGATATGGGAGGTGGGAGACAGACAGGGCCATGGTGTTGTCCACAGGCTTGCCCACAAAATTACCAAATATCCACGTGATGGTTCTGCTTTCGTTTTGCCAAAGCAGTTAGTTTATCGAGAACAAAGTGGGAAAAAAGACAAATCAGAGGCTAGACATGGCAGAACAAAAGAAATTCTCTTTTTGTTGGGGACAATCATCACTACTCAGTTCTAGAATGACCAAGTCTAAAAATCTAGTGATATTCACAGGACATTTTGCACCCTTCTGTGGAAAGATACAAGCTGAAAACATCAAAGGTTAGGAGGTAAATTATCCAACCACGGAGGGGAAAAAATCGCTGCCATTCTGCAAAAGCAGCTTTCTGAGTTCACACACTTTAAGATCATGTCTGCAAACATCCTCACTTGTGGACAGCGAGAGATGGAGAGCAAATCGGTTGAAGAATCCAGTCTCGACACAGGCCTCCTGACAACCCCTCCAGTATTCTTTTTGCTTCTTGCAGGGCAATTCACGGTGTTGCTAAACTGATGGCTGTTTATTGCTGCTCTCAATAGTGTTGGAATATAGAGGCTTAGGGACTGATAGAGGACATCGATTTGTCTTCAGATGCTTGCCACAAGAAGGGGAAACAAAACCAGCTTGTACTATATCACTGTAAACAAAATACGTTTTTAAGCTTTGAGTCCCATAAAAATTAAGAGTGGAAGGAAAGGCAAGAAAGTCCAAATGGGCTGGACAGTCTTTGGAGAGGCCTTGTCTTCAAGTTAAAGGAGAGGCAGCATTTAAGCAGATGAAAAGAAGCAGGCATTTTTTTTCCCAGACACTTTTGTGGGCACAGCTCTGTGCCTAGTAATAACCTGTGGGGGCCCTCACCACCACCACCAATTAAAGATTCTCGCAGAGCAGGTGACACTAAAGATAACCCTCGGCTAGGTAGACAGCAGGTACAGCACATCGAAAAACACATGGAGTGTTGCTCTTAAGGGTCTGATGGAAAAGCCTGTGGAGTGCAGTTTTGCTGGAATGCTGGGTTTATGGGTAAAAGAGAGCAGAGCGATGAGTCAGGCTAGACCCCAGGGCAGTGACCACAAGGTGGAAACTAGAATGCCACCTTCGCAGCCAATGAAAGCCACTGATAGTTTCCATGGAGCAGAGAGCCATGACCAGGAGTATTAACCGTGCCTTTTATTTCTGTGTTCTGATGCTTTGATCTGCGACCCTGTGGACCTTGGAGGGAGGGCCCCTTCCAGGGCTGGCTAATTCCGAGAGACGGCTAGCAACTCTCCTAGGAGTGTACTTTTCACATGCAAACCAACCAGTCCAGAACCCACACCCCAACCATC
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ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAATTCCTAGATTAATTTTTGTTGATATTTGCTTTTTTGCTCTTCCCCATCACACACACATGTGCACACACCTACAACACACACATTACCACACAAAACACACACCACACACACATCCACAATGCACACCAACACAACACATACCACACACACAAACCCAACACACACCACACACATCACATACCGCACACACCCAAAACTCAACACACACCCACAGACACAAACTCACATATCAGCTTCTTTCACTTTAGTTTTTTTGGGTGTGGGGGCAGGTAAATGGCTCCTCATTCTACATTCCCAGGACTTCTGAATAGTCTTTTGTATAGCTGATGCACTTATCAGAACCTGAACCTCCGGAGCTTTACAACCACAGGTCTCATTTTCAGGCAAAAACATAAAATGCTGAAAACTTCCCAAAGAAACTCCAGGATAGACTCTTTTTGAAGGAACACGATGGCTTGGTTGACATGTGCCACTTAACACTAAAAACATCTGATTTTGCTAAAATCCCAAATTCTGCTCTCTATACTGCGGTTCTGAGAAAGTCACTCACATGTTCTATTTGAGGCTATGTTAAATCATTCACTCTACCCGTCTTGAGGCATGAAAGTCCCAGGGATGTGGATTTAAATATATACTGTTATGATTTCGCTTATAGCTGTTAAAGTCTTAGTTCAAAGCCTCTGGGCTCACAACACTTTCAGATACATCTTTTCTCTAAGCTATCCACATGTGTCCCACTCAACACTGAGAGCCACTGCTAGAGGGTCTCAAGGGCACTTTTAGGCCAGGAGAGCAAGAAACAGACACACATACACACAAAATACTGTTCTAAATAAAACAACCCAAAAATCAGGCAAAAATCTATGCAAGAGACAGAAGGTTTTTAAGAGCACCATTTAGCAAGGTGATATTCAAAATAATTGACCACCAGCTGGGATGGAGCTCTATGGAAAGGCCTGGCGGTTTCCAGGGCAACCAGGGAAGCCCAGGGCCTCCTCACTGGGACTCAGGAAGGCAGCCTGGTTTCCTGATTTGAGTGATTATATTATGAGAGCTGGAGAGAGATGTTTCTCATCAGGAAATCTCTCACTTAGTCATTCCCATAAATATTCGTGGCACTACCTCAATAAAGCTCCGTAGAGAGTAAACCCTACAATCTGCGCAACAGACATTTTTTTTTCAACTGTGCAGACAGCTTTGAAAAAAACTTCACTGAAGCCACTGCAGTGTCAGGGCGATATTAATTACAGGCCTCTGTGGCTATGATATGGAAAATCCATCCTGAGGGAATCTGTGTTCTTAGACATGGCAATCCAATTATATACAATTGATCCAAAGGTGGCTGTTTTTCAACTGCTTGTGACTATTTACAGTAACAGTAATGCCCCAAATTTTATGGTTATGAGATTTTTTTTTCTGCAAAGCTTTAGTGCTTCATAGATGCTTCCTAATTTATCTGAGGTCATTGCCTCACTTACAATAATCATCTCAAGTGAGATATTCAACACCCATGCACCATGCAACAGCAAAATTGGTCCTGAAGAGGCACACAGACCTGAGCCCATACAGCACTGTCCCATCAGGGTGAAGACGGATCATGCGGTTTTTCACTGTCACTCCATGCACAAATGACTTTTTGTCATTTAAGAAATATGTGTCGGGCACCCATAGCTGGTCAGCCACTCGATTGTCAAGCGTGAGGTTGAGAGGGATCCCAGAATAGGCGAGACTTTTATCTCTCCAATATTGTTGAAAATACATGGTTAAGGTATAATCCTGGGGGGAAAAGAAAAGAAAGAAAGTTAGTTTGTACCCAGCCACAGGTGTATTTCCTCCACGACCAGCCAAATTCAGGTTGCAATCTAGGCTCTACAGTGAATAACCAGGAGAAACGGATGCCATTTTTATGCAGAATGGGAAGCAATGGCTGCTTTCTTGTGAATGCAAATACCAGTTTTAATAGGTACATGAGTCTGTGTGTGTCACGTATAGATGTCCTCTGTTTTACTTAGGTTAAGAAGCAGACTAGACAAACTGGCATTTAACAGATAACAGCATAGAAATAAACGGGAAAAAGTCATCGTAAAATCAGGTTGCTGGCGGGGAACTAGATTGTTCCCATGGATGTTCTCTTTCCCACCAGGCAGACAGGTGCTTTAACAACCTACAACAGATGAGCTCTATCTACAAACTCTCTCTGCAATTTGAGCCACTTTCCTCTGGTTCTGCCCTCCATGAGGGCTATAAATACAAACCTTCCATAAACATCCTCTGGAGACACAAGGGACTGTGGGAGGTCTCCATGCCCTACCTATTGTATTTCCTTTTTCCTCCAGCTTGCCGTGGCCATTTCTACATTAACTGGACCATAAAATCACCCGGAGATGATGACATATTCACCTGAGGAAAATGGGAACCTAAGGTCCAAGCAGGATATGGGAGGTGGGAGACAGACAGGGCCATGGTGTTGTCCACAGGCTTGCCCACAAAATTACCAAATATCCACGTGATGGTTCTGCTTTCGTTTTGCCAAAGCAGTTAGTTTATCGAGAACAAAGTGGGAAAAAAGACAAATCAGAGGCTAGACATGGCAGAACAAAAGAAATTCTCTTTTTGTTGGGGACAATCATCACTACTCAGTTCTAGAATGACCAAGTCTAAAAATCTAGTGATATTCACAGGACATTTTGCACCCTTCTGTGGAAAGATACAAGCTGAAAACATCAAAGGTTAGGAGGTAAATTATCCAACCACGGAGGGGAAAAAATCGCTGCCATTCTGCAAAAGCAGCTTTCTGAGTTCACACACTTTAAGATCATGTCTGCAAACATCCTCACTTGTGGACAGCGAGAGATGGAGAGCAAATCGGTTGAAGAATCCAGTCTCGACACAGGCCTCCTGACAACCCCTCCAGTATTCTTTTTGCTTCTTGCAGGGCAATTCACGGTGTTGCTAAACTGATGGCTGTTTATTGCTGCTCTCAATAGTGTTGGAATATAGAGGCTTAGGGACTGATAGAGGACATCGATTTGTCTTCAGATGCTTGCCACAAGAAGGGGAAACAAAACCAGCTTGTACTATATCACTGTAAACAAAATACGTTTTTAAGCTTTGAGTCCCATAAAAATTAAGAGTGGAAGGAAAGGCAAGAAAGTCCAAATGGGCTGGACAGTCTTTGGAGAGGCCTTGTCTTCAAGTTAAAGGAGAGGCAGCATTTAAGCAGATGAAAAGAAGCAGGCATTTTTTTTCCCAGACACTTTTGTGGGCACAGCTCTGTGCCTAGTAATAACCTGTGGGGGCCCTCACCACCACCACCAATTAAAGATTCTCGCAGAGCAGGTGACACTAAAGATAACCCTCGGCTAGGTAGACAGCAGGTACAGCACATCGAAAAACACATGGAGTGTTGCTCTTAAGGGTCTGATGGAAAAGCCTGTGGAGTGCAGTTTTGCTGGAATGCTGGGTTTATGGGTAAAAGAGAGCAGAGCGATGAGTCAGGCTAGACCCCAGGGCAGTGACCACAAGGTGGAAACTAGAATGCCACCTTCGCAGCCAATGAAAGCCACTGATAGTTTCCATGGAGCAGAGAGCCATGACCAGGAGTATTAACCGTGCCTTTTATTTCTGTGTTCTGATGCTTTGATCTGCGACCCTGTGGACCTTGGAGGGAGGGCCCCTTCCAGGGCTGGCTAATTCCGAGAGACGGCTAGCAACTCTCCTAGGAGTGTACTTTTCACATGCAAACCAACCAGTCCAGAACCCACACCCCAACCATC
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Task1_train_20472
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A mutation in GABRB3 (gamma-aminobutyric acid type A receptor subunit beta3), located on Chromosome 15, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Epilepsy, childhood absence, susceptibility to, 5
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ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAATTCCTAGATTAATTTTTGTTGATATTTGCTTTTTTGCTCTTCCCCATCACACACACATGTGCACACACCTACAACACACACATTACCACACAAAACACACACCACACACACATCCACAATGCACACCAACACAACACATACCACACACACAAACCCAACACACACCACACACATCACATACCGCACACACCCAAAACTCAACACACACCCACAGACACAAACTCACATATCAGCTTCTTTCACTTTAGTTTTTTTGGGTGTGGGGGCAGGTAAATGGCTCCTCATTCTACATTCCCAGGACTTCTGAATAGTCTTTTGTATAGCTGATGCACTTATCAGAACCTGAACCTCCGGAGCTTTACAACCACAGGTCTCATTTTCAGGCAAAAACATAAAATGCTGAAAACTTCCCAAAGAAACTCCAGGATAGACTCTTTTTGAAGGAACACGATGGCTTGGTTGACATGTGCCACTTAACACTAAAAACATCTGATTTTGCTAAAATCCCAAATTCTGCTCTCTATACTGCGGTTCTGAGAAAGTCACTCACATGTTCTATTTGAGGCTATGTTAAATCATTCACTCTACCCGTCTTGAGGCATGAAAGTCCCAGGGATGTGGATTTAAATATATACTGTTATGATTTCGCTTATAGCTGTTAAAGTCTTAGTTCAAAGCCTCTGGGCTCACAACACTTTCAGATACATCTTTTCTCTAAGCTATCCACATGTGTCCCACTCAACACTGAGAGCCACTGCTAGAGGGTCTCAAGGGCACTTTTAGGCCAGGAGAGCAAGAAACAGACACACATACACACAAAATACTGTTCTAAATAAAACAACCCAAAAATCAGGCAAAAATCTATGCAAGAGACAGAAGGTTTTTAAGAGCACCATTTAGCAAGGTGATATTCAAAATAATTGACCACCAGCTGGGATGGAGCTCTATGGAAAGGCCTGGCGGTTTCCAGGGCAACCAGGGAAGCCCAGGGCCTCCTCACTGGGACTCAGGAAGGCAGCCTGGTTTCCTGATTTGAGTGATTATATTATGAGAGCTGGAGAGAGATGTTTCTCATCAGGAAATCTCTCACTTAGTCATTCCCATAAATATTCGTGGCACTACCTCAATAAAGCTCCGTAGAGAGTAAACCCTACAATCTGCGCAACAGACATTTTTTTTTCAACTGTGCAGACAGCTTTGAAAAAAACTTCACTGAAGCCACTGCAGTGTCAGGGCGATATTAATTACAGGCCTCTGTGGCTATGATATGGAAAATCCATCCTGAGGGAATCTGTGTTCTTAGACATGGCAATCCAATTATATACAATTGATCCAAAGGTGGCTGTTTTTCAACTGCTTGTGACTATTTACAGTAACAGTAATGCCCCAAATTTTATGGTTATGAGATTTTTTTTTCTGCAAAGCTTTAGTGCTTCATAGATGCTTCCTAATTTATCTGAGGTCATTGCCTCACTTACAATAATCATCTCAAGTGAGATATTCAACACCCATGCACCATGCAACAGCAAAATTGGTCCTGAAGAGGCACACAGACCTGAGCCCATACAGCACTGTCCCATCAGGGTGAAGACGGATCATGCGGTTTTTCACTGTCACTCCATGCACAAATGACTTTTTGTCATTTAAGAAATATGTGTCGGGCACCCATAGCTGGTCAGCCACTCGATTGTCAAGCGTGAGGTTGAGAGGGATCCCAGAATAGGCGAGCCTTTTATCTCTCCAATATTGTTGAAAATACATGGTTAAGGTATAATCCTGGGGGGAAAAGAAAAGAAAGAAAGTTAGTTTGTACCCAGCCACAGGTGTATTTCCTCCACGACCAGCCAAATTCAGGTTGCAATCTAGGCTCTACAGTGAATAACCAGGAGAAACGGATGCCATTTTTATGCAGAATGGGAAGCAATGGCTGCTTTCTTGTGAATGCAAATACCAGTTTTAATAGGTACATGAGTCTGTGTGTGTCACGTATAGATGTCCTCTGTTTTACTTAGGTTAAGAAGCAGACTAGACAAACTGGCATTTAACAGATAACAGCATAGAAATAAACGGGAAAAAGTCATCGTAAAATCAGGTTGCTGGCGGGGAACTAGATTGTTCCCATGGATGTTCTCTTTCCCACCAGGCAGACAGGTGCTTTAACAACCTACAACAGATGAGCTCTATCTACAAACTCTCTCTGCAATTTGAGCCACTTTCCTCTGGTTCTGCCCTCCATGAGGGCTATAAATACAAACCTTCCATAAACATCCTCTGGAGACACAAGGGACTGTGGGAGGTCTCCATGCCCTACCTATTGTATTTCCTTTTTCCTCCAGCTTGCCGTGGCCATTTCTACATTAACTGGACCATAAAATCACCCGGAGATGATGACATATTCACCTGAGGAAAATGGGAACCTAAGGTCCAAGCAGGATATGGGAGGTGGGAGACAGACAGGGCCATGGTGTTGTCCACAGGCTTGCCCACAAAATTACCAAATATCCACGTGATGGTTCTGCTTTCGTTTTGCCAAAGCAGTTAGTTTATCGAGAACAAAGTGGGAAAAAAGACAAATCAGAGGCTAGACATGGCAGAACAAAAGAAATTCTCTTTTTGTTGGGGACAATCATCACTACTCAGTTCTAGAATGACCAAGTCTAAAAATCTAGTGATATTCACAGGACATTTTGCACCCTTCTGTGGAAAGATACAAGCTGAAAACATCAAAGGTTAGGAGGTAAATTATCCAACCACGGAGGGGAAAAAATCGCTGCCATTCTGCAAAAGCAGCTTTCTGAGTTCACACACTTTAAGATCATGTCTGCAAACATCCTCACTTGTGGACAGCGAGAGATGGAGAGCAAATCGGTTGAAGAATCCAGTCTCGACACAGGCCTCCTGACAACCCCTCCAGTATTCTTTTTGCTTCTTGCAGGGCAATTCACGGTGTTGCTAAACTGATGGCTGTTTATTGCTGCTCTCAATAGTGTTGGAATATAGAGGCTTAGGGACTGATAGAGGACATCGATTTGTCTTCAGATGCTTGCCACAAGAAGGGGAAACAAAACCAGCTTGTACTATATCACTGTAAACAAAATACGTTTTTAAGCTTTGAGTCCCATAAAAATTAAGAGTGGAAGGAAAGGCAAGAAAGTCCAAATGGGCTGGACAGTCTTTGGAGAGGCCTTGTCTTCAAGTTAAAGGAGAGGCAGCATTTAAGCAGATGAAAAGAAGCAGGCATTTTTTTTCCCAGACACTTTTGTGGGCACAGCTCTGTGCCTAGTAATAACCTGTGGGGGCCCTCACCACCACCACCAATTAAAGATTCTCGCAGAGCAGGTGACACTAAAGATAACCCTCGGCTAGGTAGACAGCAGGTACAGCACATCGAAAAACACATGGAGTGTTGCTCTTAAGGGTCTGATGGAAAAGCCTGTGGAGTGCAGTTTTGCTGGAATGCTGGGTTTATGGGTAAAAGAGAGCAGAGCGATGAGTCAGGCTAGACCCCAGGGCAGTGACCACAAGGTGGAAACTAGAATGCCACCTTCGCAGCCAATGAAAGCCACTGATAGTTTCCATGGAGCAGAGAGCCATGACCAGGAGTATTAACCGTGCCTTTTATTTCTGTGTTCTGATGCTTTGATCTGCGACCCTGTGGACCTTGGAGGGAGGGCCCCTTCCAGGGCTGGCTAATTCCGAGAGACGGCTAGCAACTCTCCTAGGAGTGTACTTTTCACATGCAAACCAACCAGTCCAGAACCCACACCCCAACCATC
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ATTCTTACTCACAGGTGGAAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACTTCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTGGGATATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACTAGCATGGCACATGTATACATATGTAACTAACCTGCACATTATGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAATAAATAAATAAAAAATAAAGAATGCAAAAATAAAAGTGGAGAAAACTGAAATAGCATGTTTTGTTTAAAAAGCCAAAAATTCCTAGATTAATTTTTGTTGATATTTGCTTTTTTGCTCTTCCCCATCACACACACATGTGCACACACCTACAACACACACATTACCACACAAAACACACACCACACACACATCCACAATGCACACCAACACAACACATACCACACACACAAACCCAACACACACCACACACATCACATACCGCACACACCCAAAACTCAACACACACCCACAGACACAAACTCACATATCAGCTTCTTTCACTTTAGTTTTTTTGGGTGTGGGGGCAGGTAAATGGCTCCTCATTCTACATTCCCAGGACTTCTGAATAGTCTTTTGTATAGCTGATGCACTTATCAGAACCTGAACCTCCGGAGCTTTACAACCACAGGTCTCATTTTCAGGCAAAAACATAAAATGCTGAAAACTTCCCAAAGAAACTCCAGGATAGACTCTTTTTGAAGGAACACGATGGCTTGGTTGACATGTGCCACTTAACACTAAAAACATCTGATTTTGCTAAAATCCCAAATTCTGCTCTCTATACTGCGGTTCTGAGAAAGTCACTCACATGTTCTATTTGAGGCTATGTTAAATCATTCACTCTACCCGTCTTGAGGCATGAAAGTCCCAGGGATGTGGATTTAAATATATACTGTTATGATTTCGCTTATAGCTGTTAAAGTCTTAGTTCAAAGCCTCTGGGCTCACAACACTTTCAGATACATCTTTTCTCTAAGCTATCCACATGTGTCCCACTCAACACTGAGAGCCACTGCTAGAGGGTCTCAAGGGCACTTTTAGGCCAGGAGAGCAAGAAACAGACACACATACACACAAAATACTGTTCTAAATAAAACAACCCAAAAATCAGGCAAAAATCTATGCAAGAGACAGAAGGTTTTTAAGAGCACCATTTAGCAAGGTGATATTCAAAATAATTGACCACCAGCTGGGATGGAGCTCTATGGAAAGGCCTGGCGGTTTCCAGGGCAACCAGGGAAGCCCAGGGCCTCCTCACTGGGACTCAGGAAGGCAGCCTGGTTTCCTGATTTGAGTGATTATATTATGAGAGCTGGAGAGAGATGTTTCTCATCAGGAAATCTCTCACTTAGTCATTCCCATAAATATTCGTGGCACTACCTCAATAAAGCTCCGTAGAGAGTAAACCCTACAATCTGCGCAACAGACATTTTTTTTTCAACTGTGCAGACAGCTTTGAAAAAAACTTCACTGAAGCCACTGCAGTGTCAGGGCGATATTAATTACAGGCCTCTGTGGCTATGATATGGAAAATCCATCCTGAGGGAATCTGTGTTCTTAGACATGGCAATCCAATTATATACAATTGATCCAAAGGTGGCTGTTTTTCAACTGCTTGTGACTATTTACAGTAACAGTAATGCCCCAAATTTTATGGTTATGAGATTTTTTTTTCTGCAAAGCTTTAGTGCTTCATAGATGCTTCCTAATTTATCTGAGGTCATTGCCTCACTTACAATAATCATCTCAAGTGAGATATTCAACACCCATGCACCATGCAACAGCAAAATTGGTCCTGAAGAGGCACACAGACCTGAGCCCATACAGCACTGTCCCATCAGGGTGAAGACGGATCATGCGGTTTTTCACTGTCACTCCATGCACAAATGACTTTTTGTCATTTAAGAAATATGTGTCGGGCACCCATAGCTGGTCAGCCACTCGATTGTCAAGCGTGAGGTTGAGAGGGATCCCAGAATAGGCGAGACTTTTATCTCTCCAATATTGTTGAAAATACATGGTTAAGGTATAATCCTGGGGGGAAAAGAAAAGAAAGAAAGTTAGTTTGTACCCAGCCACAGGTGTATTTCCTCCACGACCAGCCAAATTCAGGTTGCAATCTAGGCTCTACAGTGAATAACCAGGAGAAACGGATGCCATTTTTATGCAGAATGGGAAGCAATGGCTGCTTTCTTGTGAATGCAAATACCAGTTTTAATAGGTACATGAGTCTGTGTGTGTCACGTATAGATGTCCTCTGTTTTACTTAGGTTAAGAAGCAGACTAGACAAACTGGCATTTAACAGATAACAGCATAGAAATAAACGGGAAAAAGTCATCGTAAAATCAGGTTGCTGGCGGGGAACTAGATTGTTCCCATGGATGTTCTCTTTCCCACCAGGCAGACAGGTGCTTTAACAACCTACAACAGATGAGCTCTATCTACAAACTCTCTCTGCAATTTGAGCCACTTTCCTCTGGTTCTGCCCTCCATGAGGGCTATAAATACAAACCTTCCATAAACATCCTCTGGAGACACAAGGGACTGTGGGAGGTCTCCATGCCCTACCTATTGTATTTCCTTTTTCCTCCAGCTTGCCGTGGCCATTTCTACATTAACTGGACCATAAAATCACCCGGAGATGATGACATATTCACCTGAGGAAAATGGGAACCTAAGGTCCAAGCAGGATATGGGAGGTGGGAGACAGACAGGGCCATGGTGTTGTCCACAGGCTTGCCCACAAAATTACCAAATATCCACGTGATGGTTCTGCTTTCGTTTTGCCAAAGCAGTTAGTTTATCGAGAACAAAGTGGGAAAAAAGACAAATCAGAGGCTAGACATGGCAGAACAAAAGAAATTCTCTTTTTGTTGGGGACAATCATCACTACTCAGTTCTAGAATGACCAAGTCTAAAAATCTAGTGATATTCACAGGACATTTTGCACCCTTCTGTGGAAAGATACAAGCTGAAAACATCAAAGGTTAGGAGGTAAATTATCCAACCACGGAGGGGAAAAAATCGCTGCCATTCTGCAAAAGCAGCTTTCTGAGTTCACACACTTTAAGATCATGTCTGCAAACATCCTCACTTGTGGACAGCGAGAGATGGAGAGCAAATCGGTTGAAGAATCCAGTCTCGACACAGGCCTCCTGACAACCCCTCCAGTATTCTTTTTGCTTCTTGCAGGGCAATTCACGGTGTTGCTAAACTGATGGCTGTTTATTGCTGCTCTCAATAGTGTTGGAATATAGAGGCTTAGGGACTGATAGAGGACATCGATTTGTCTTCAGATGCTTGCCACAAGAAGGGGAAACAAAACCAGCTTGTACTATATCACTGTAAACAAAATACGTTTTTAAGCTTTGAGTCCCATAAAAATTAAGAGTGGAAGGAAAGGCAAGAAAGTCCAAATGGGCTGGACAGTCTTTGGAGAGGCCTTGTCTTCAAGTTAAAGGAGAGGCAGCATTTAAGCAGATGAAAAGAAGCAGGCATTTTTTTTCCCAGACACTTTTGTGGGCACAGCTCTGTGCCTAGTAATAACCTGTGGGGGCCCTCACCACCACCACCAATTAAAGATTCTCGCAGAGCAGGTGACACTAAAGATAACCCTCGGCTAGGTAGACAGCAGGTACAGCACATCGAAAAACACATGGAGTGTTGCTCTTAAGGGTCTGATGGAAAAGCCTGTGGAGTGCAGTTTTGCTGGAATGCTGGGTTTATGGGTAAAAGAGAGCAGAGCGATGAGTCAGGCTAGACCCCAGGGCAGTGACCACAAGGTGGAAACTAGAATGCCACCTTCGCAGCCAATGAAAGCCACTGATAGTTTCCATGGAGCAGAGAGCCATGACCAGGAGTATTAACCGTGCCTTTTATTTCTGTGTTCTGATGCTTTGATCTGCGACCCTGTGGACCTTGGAGGGAGGGCCCCTTCCAGGGCTGGCTAATTCCGAGAGACGGCTAGCAACTCTCCTAGGAGTGTACTTTTCACATGCAAACCAACCAGTCCAGAACCCACACCCCAACCATC
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Task1_train_20473
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This sequence variant lies in GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Developmental and epileptic encephalopathy, 79
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TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGGTCACCACGGTGCTGACCATGACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGAC
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TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGCTCACCACGGTGCTGACCATGACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGAC
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Task1_train_20474
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Here is a variant affecting GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGGTCACCACGGTGCTGACCATGACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGAC
|
TTGTTTCAGGAAGGTGTGGAGGTTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGTTCACCACGGTGCTGACCATGACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGAC
|
Task1_train_20475
|
This variant impacts the gene GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Developmental and epileptic encephalopathy, 79
|
TTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGGTCACCACGGTGCTGACCATGACGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGACACTGGCGCGAGCGTGAATACCA
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TTGGCTGGTGGCCAGGCAGTGCTCCCCAAGTTAATGTGCCTGATGAACTCTTTAGGGGAAATTTAGCTGGTAGGCAGAAAAAAAGCTGGGAGGGTATTGCCTGTTATTGTTGGGTTTTTTGGCGGGGGGTGGAGGGAGATTCCCAATGCATGTTAAGATATTAAAGGCCCAAGAAGAAGACTCAAGAGGCTTGTTTAAGATCATGCATAGAACACTTCCCCCGCAACACAGTGATTAAGTGGATTTCTCAAAAAAAAAATCAAAGATTTCTATTGATTCCTTTGGAAGTGTTGATTTCATGCAGGGAATGACGTTCATGGAGTACTTGTAGAGCTGTGAAGGATGGCATTGAATGAAGCCCCAGCCATACTACGTGTCCTTGGTGCTGTGCTGGTCTCCTGGGACTGCCGTAACCAAGTCCCACACACTGGGGACTTATACAGCAGAAATGTATCATCTCACACTTCTGGAGGCTGGAAGGCTGGGATCAGGGTGTTGGCAGGGCTGGCTCCTCCTGAGGCCTGCAAGGGAAGGATCTGTTCCTGGCCTGTCTCCTGGCCTCTGGTAGCTCTTTAGCTCATGGCAGCATCACTCCCGCCCTCACACGGCATGCTCCCTGTGTGCATGTCTGTCTCCAAGGTTCCCCATTTTATAAGGCATCAGTCATAGCAGATGAGGGCCTATCCCAGTGACCTCATTTTAACTTAATTATTTCTTTAAATACTGTATTTCCAAATAAGGCTGTAATCTAGAGTACTGGAGGTTAGGACTTCAACATATGAATTTTGCAGGCCCACAGTTTGACCAATAGCAGGTGTGTTACACCCCCATCGCCCACACAGGTGCACGCTTATGCAGAAGGCAGGGCTAGCAGGTGGAAGCTATGTGAACTGCGAGAGTCCAGCAGGCCTGGCTCCCAGTGTGGGTAGTCTCATCTCCTTGCTGGCGAGCTTGGGCACCTCGCTAAACACTTTTAAATCTTCAGGCTCCTCCACCTGCCAAACAGGGATACTGACACCCATCCAGAGTGCAGCTTAGACGAGAGTCTGACACTCAGTGGACCCAGTAGCTGGTGCATAATCTGCCAGTCCAAAGGACTGTCCCCTTCCAGGGATCCAGCCTGGCTGTGTGGTCACTGCAAAGTTTTCCTAGTGGCCACAGGCACCATGCACAGCAGGCTCCAGGGGATACTGTTCCCTCTTTGAGGGAGTGACATGCCCAGACCCAGATTTAGATATGGCGCTTCTGTTACTCTCTGGCTCTTACAAGTCTGCAGTCGGGTGAAAGTCTGTCTCACCTGTTTGCAGGGAGCCCTCTACTTCCAGGTGCATAGTAAGTCACTGGGAGGCACCTACTGGCTGCGGCATGAATGTGACTGTCATTCTGCCTTGGATCTTGCCTTAGTGCTGCAGAATCGTATCACTCACTCTACACGTCTTTGTTGAGCACTGGCTGTTTGCCTGGCTTTGTTCATGGCAGTGGGAGCCAAAATCAGACCTGAATCCCTGCCCTCCTCAGTTCACATTCTAAAGGGAAGGGACAATCAAGACACAGAACATCAGCAATCATCTATCTAAGTGCAGTGAATGTGCTAGATGTTAGCAAAACAGTAGAGGAAGGCGCAGGCTGGGATTAAAATCACCAGTCCCTTGGGAGGCCGAGGTGGGTGGATCGCATGAGGCCAGGAATTCGAGACCAGCCTGGCCAACTTGGCAAAACCTCGTCTCTATTAAAAATACAGAAATTAGCCAGGTGTGGTGACACCTGCCTGTAATCCCAGCTACTCAGGCAGCTGAGGCACAAGAATCGCTTGAACCAGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAAAATAAAAATAAAAATGACTAGTCCCCTTTGTGTCTATCACTTTGGGCATGTTGTACTGGGGTCCTGGGTGCCAGCACTGACCCCTGTTTCCGTTTTTCACTCTGCCCTGCCTGACCCCCGCAGGGGTCACCACGGTGCTGACCATGATGACCCTCAGCATCAGCGCCAGGAACTCTCTGCCCAAAGTGGCCTACGCCACCGCCATGGACTGGTTCATAGCCGTGTGCTATGCCTTCGTCTTCTCGGCGCTGATAGAGTTTGCCACGGTCAATTACTTTACCAAGAGAGGCTGGGCCTGGGATGGCAAAAAAGCCTTGGAAGCAGCCAAGATCAAGGTACTGACTATTTCTCCTCCTTTCTTCCAGGTCCCCTTGACAGAGAAAGTGTGCCTGATTCTATCCAAACATGAGACAAGGTGCTGCTCCTTCCTACCCGCCAGCCCCCGAATGCTCCTTTCCTCATATTCAAGGCCCTTACCAAGTCTTACTGACAACAGGTCCAATTTCACTCCAGCAAAAGGCGATGGGGTGTGAATGGCTTGGCCCTATTTATATTCAAGCCTATTATTTTGGCAGAAGTAACTCCTGCATCTTGAGGGACGACTTGTCTGGTTTTAGTTGTGGAATCTGTTCTTACGCTCATTTTATCTCATTTCACCATGCAGGGTGTCCTCTTCAGGTGGCCCTCAGGTCGAGAAGGGGGCACCAATGTAATGGAAGGAGTTCCTCAGCAAAGCACACCCAAGCCCCACCGAGTGCATGATTGAACCCCCTTACACCAGGCACATAAATTGTTGTGAAAGCATTACTCTGTTCAAAGCAAAGAACCACCAAGTATTTAAAGGATGATTTATGCCCAAACATTTGAAGAAAAAATGTTATTCCAAGCTGCACTGTTTCCTTGGGGAGATAAGAATAACATTCGTGGACGGTAAATAAAGCAGCATGTGGTGAACGGCTAATTTCGCCACACAGAAAACAAACACACAAATCTCTGTATGGAGAGAACAGGAGGTCAGAGCCATCGGGGCGACCTGAAAGTAAAACTTAATCTGTCCTTTGGAAAATCAGCATGAAGGGAGTCCTGGAAGGCATTAGAGAGGCCTCGAAGTGTAAGTCCGACCTCCCAGCCAAGGGCCACAAGCCAGTTACAGCAGAGCAGGAGGCCCTGGTTCCACTGGGAGACCTGCTTCCATCCCATCCACAGCCCCGTGCTTGCTCTGAGGGTTTGACTCTGCTGTCAGGAGTTCTGGCCTGACCTCGCCTGTTGGGCCTTCACTATTTCCAAGTGCCAGGAGCCCCTCCCCCACTGTAGTTTCAGCATAGAAGCCCCACTTCCAAGCCTAGCTCCCAGGTTGGAGGAAGGCCTGGCAGGACCCATTCTGGGTGCTCTCATGAAGGGAGGAAAGGGGAAACCGGAGGAAGGGCCTCGGGCATGGGTATGCTTTGAGGGCTGAGAGGAGGGACAGGAGTGATCTGACTGCACTGGGTGATAGGGACTCGGGGGCTGGGAGCAGGCTGTTCTCAGACGATAGAGGTTCTTGGCCGACACGTTTGAACTTGTTCCTGCAGACCAGGGGTCCAGAGAAGGTGCTGTGTGGGGAGGAACGAGAATGGAGTCTGGGGAGACGGGGCTTCCCAACACCCTGCACTGTGTTGCTGGAAGGTGCTTGTTTGTCACCTGCCTGGGACATAGATGGTGCATGATGGATAGTGGGCTGGAGCCTGGTCTGAGGTCAGGGAGGAGCCGGAAGTCCCTGGCAGTCACTGAGGTTGTTGGGCTCATGCCTGTGAGTCTAGGAGGAACGTGAGCCCCCGGGTGAATGGAGAGAGCACACCTGTGGCTGGGTGTTCTTGTTGGGTGTCGCCGACACTGTCAATCACCATGTCCGCCCTGCCTCCTGTGGCGGCTGATCTAATCACCATAGATCTGAATTCTGAATGGAGGGTTGGAGGGAGGAGAGAGGATGAAAGTGACCTGCACTGTCTAATCCGAGGAGAGAAAGGGTCTTCTAGAATAAGCCGCGTGCCTCAAGCTGGCTTGTGGAATGTTCAGACTCGTTCCTGGGAAGGCAGTGGCGCTGGGGGTTCCACCCCTGCTGCCAGGAAGGCTCTGCGTGCTGGAAGCCATGGTGCATCTGCAGGCATGCAGGCCTCACACCCCGCGGTCAGACACTGGCGCGAGCGTGAATACCA
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Task1_train_20476
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A mutation found in GABRA5 (gamma-aminobutyric acid type A receptor subunit alpha5) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Developmental and epileptic encephalopathy, 79
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GTGTGGCCCGCCTCCCTCAAGCTCCCGCACGGTTTCCCCAGGGGGTCCTCATGCCCCTGCCCCTGGCCTGGTTTTGGTTCACCTGTTTCACCTGTTTCCCCTGACGCCTGCTCCACGCTTGGGCTTTCTGCTTTTTATCTTTTCTTTATTCTTAATGGTTGACTTATTTTCTTTACTCTCTTGTGTTTTTCAAGTTTTAATTAATGAGACTATATTACTTTAGTAGTGGAACACAGGTTGTCTAACATTTTATTGTGCACATTTTTAAACATACAGCAATGTTTAAAGAGGTTTACGGTGAAAACCTGTCTGCTGTTAACACTTACGTATGCCTGTGTCCTCACCACCTGTCACCTCTCTCTCTATCTGTCCATCAATACACCCATCCTCAATTTATCTGTTTTTTTTTTTTTTGCTACATTTCAAAATAAATTTCAGATGGCAATGCATTTCCCACTCCATATGTCAGCATGCATGTCATTATAACTAGAGTCCAATACTAGCTTACTGTTTTATTCCTTTGAAGCAAAATTTGTAGTGTGAAACGCACAAGTACTAACAGCACCTTTGCTGAGTGTGGACAAATATGGACATTGTGTGTAACTCAAATCCCTGCCACAGTAGAGGACATCACCAGCCTCCAGAAAGCTCACCATGCCTCTTCCCAGGCAGTGCTTGACCCCACCTCTCCAAACATATCCACTATTTTTATTTCTTCCACCATAATGTAACTTACCTGTTTAGAATTTTATATCCAAAAAAAAAACTTCACAAAAAATGTATACAAGAATGTTCATAGCTGCTTAATCCGTAAGAGTTAAGATTAGAAAGCCCAGGTGTCCATCGATAGGATAGTAAACAAACGGTGGCACATTCATGCAAAGGTAGGTCACTCAGCCATAAAAAGGAGGGGACGACTGATATACACAGCAATATGGGTGATTCTCAAAAGCCTTGTGCTGGGTGGAAGATACCTTCCCAAAAGAATGCATTCTGTACCATGATGTTTAATCGCATCCTTTCCTCCTTCCCAGCAGGCCACATCTTAGGGCTTCCCTTATATCCACACACCGTATTCCCTCCCGCTGGTGCACTTGAAGGTAAAGAAGCGATGGCTGCCTTGCAGGGGGCAAGTCCTAATTCCGTTTATGGCAAGATCTTGAGAAATGCCAGACTTTATTTTTTTTCTTTTATTTTAGGTTCAGAGGTACATGTGCAGGTTTGTTGTATAGGTAACTCATGTCATGGGAGTTTGTTATACAGATCATTTTGTCACCCAGGTACTAAGCCTAGTACCTAATAGTTATTTTTCTGCTCCTCTTCCTCCTCCCACCTTCCACCCCAATGTCTGTTGTTCCTCTCTTTGTGTTCATGAGTTCTCATCATTCAGCTTCCCCTTGTAAGTAAGAACATGTGGTATTTGGTTTTCTGTTTCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGCTCCATCCATGTTCCTGCAAAAGACAGGATCTCATTCTTTTTATCATTCTTTTTTATGGCTGCACCATTCCATGGTGTATATGTACCACACTTTCTTTATCCAGTCTGTCATTGATGGGCATTTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGTTGCAGTGAACATTCTCATGCATGTGTCTTTATGGTAGAATGATCCGTATTCCTCTGGGAATGTATCCCGTTATGGGATTGCCAGACTTTAATAGCAATCATAGCTCTCATGTGTGCCCTGTCTGCAGGCTACCTGGCGACATCAGTGGAGGAGGGCCCTCTCCCAGGCTAAACAGGTGTTTCTCTCTTTTGAGAGGTATACCTTTAGAACTCCAAGGTGAGCTGACCATTGCCTGCAAATGGCGTGTCCTTACATTCGTATTATATTTTGCAGAAAAAGCGTGAAGTCATACTAAATAAGTCAACAAACGCTTTTACAACTGGGAAGATGTCTCACCCCCCAAACATTCCGAAGGAACAGACCCCAGCAGGGACGTCGAATACAACCTCAGTCTCAGTAAAACCCTCTGAAGAGAAGACTTCTGAAAGCAAAAAGACTTACAACAGTATCAGCAAAATTGACAAAATGTCCCGAATCGTATTCCCAGTCTTGTTCGGCACTTTCAACTTAGTTTACTGGGCAACGTATTTGAATAGGGAGCCGGTGATAAAAGGAGCCGCCTCTCCAAAATAACCGGCCACACTCCCAAACTCCAAGACAGCCATACTTCCAGCGAAATGGTACCAAGGAGAGGTCTTGCTCACAGGGACTCTCCATATGTGAGCACTATCTTTCAGGAAATTTTTGCATGTTTAATAATATGTACAAATAATATTGCCTTGATGTTTCTATATGTAACTTCAGATGTTTCCAAGATGTCCCATTGATAATTCGAGCAAACAACTTTCTGGAAAAACAGGATACGATGACTGACACTCAGATGCCCAGTATCATACGTTGATAGTTTACAAACAAGATACGTATATTTTTAACTGCTTCAAGTGTTACCTAACAATGTTTTTTATACTTCAAATGTCATTTCATACAAATTTTCCCAGTGAATAAATATTTTAGGAAACTCTCCATGATTATTAGTTGACCAACTATATTGCGAGAAACAGAGATCATAAAGAGCACGTTTTCCATTATGAGGAAACTTGGACATTTATGTACAAAATGAATTGCCTTTGATAATTCTTACTGTTCTGAAATTAGGAAAGTACTGCATGATCTTACACGAAGAAATAGAATAGGCAAACTTTTATGCAGGCAGATTAATAACAGAAATACATCATATGTTAGATACACAAAATATTTCCCTGAGGAAAAAAAATCAACTGCTTAAATTTTTTGGGAAGAAAAAGAAACATTTCTTACCCCACACCACCCACTACCTGAACAATAGCCAAGAAAGGAAAGGAGATGTTAAAACAAACAGTGTTTTGATGACATTCTCAGCACTTGGCCCATGTGATCGCTGTCTCTGAAACACTGACCACCTCTCCCTACAGCCAGCGTGTAGTGCTTCAGTGGTGAGAAATTGTAATTGAGTTATTTTCCATTTTATTTCCTTGTATGTATTTCATGACTGGACTTACTGCTCTGTCAGCTTTTGTATATGAATCTTAAATGTTCATTAAAAAATAAAAAATGAACTGATCTTGTGGACATATAGGATTCTTTTTTTTTTTTAATTTCATGTTTTGGTGGACTCATTTCCTGAAAGTGGCATAAATGGAACCCACCGTGAAATTGCTTGGGAACGAATCAAAACAAAACAAAACGTTTACTTGGTGGCTTGTCTCTGGTCCAACCTAATTCCACAGAGTAGCACCTGGAGAGAAAACTTACTTAAACCACAGCGAGGGTAGACAGCTAAAAGCAGGTATAGTCCATCACAAATTTCTCAGTGGTGCAGTGTCGCTTGGGCCTCTACTTGACAGAGTCTTCTCTGAGTGTGTTTCAAGGTGGGTGTTTGTTGTGGGCATGGTGACTACTTGGTTCTTTACATATGGGAAGATTTCATTATCCCCCCGTCCCACCCCACTTTTTTTTTGGGACAGGGTCTTGCTCTGTTGCCCAGACTGGCATGCAGTGGCTCAATAATGGCTCACTGTAGCCTCAACCTCATAGGCTAAAGCAATTCTCCCACCTCAGACCCCTAAGTAGCTGGGACCACAGGCATGCACCACCATGCCTGGCTAATTTTTAAATTTTTCAAAGAGACAGGGGTCTCACTATGTTGCCCAGGCTAGTCCTGAACTCCTGCGTTGCCCCTTCATTAACTGGTTTTAGGATCTCACAAATGGAAGGGTAAAGACCAGCAGAAAAGATACTCTTCAGTGCGCACATGAAGAAGCATTTCCCTATTATAAATAATGATGATATTTGTATAATGAGAGTGTTTTCTCTTATACCACAGCAAAAATCCCAGCCAAAAAAAAAAAAACAAAAACAAAAAACAAACCTAAGGCTCAGTAGAAGATCCTGTTTTCGTATACTATATAGTTACATTCCTCTCCTATAGTCTGTAGAGTTTAGCTTTGTGCTGTGGTTTGGAGAAAAATATACTGTAAATTATGTCCAAAT
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GTGTGGCCCGCCTCCCTCAAGCTCCCGCACGGTTTCCCCAGGGGGTCCTCATGCCCCTGCCCCTGGCCTGGTTTTGGTTCACCTGTTTCACCTGTTTCCCCTGACGCCTGCTCCACGCTTGGGCTTTCTGCTTTTTATCTTTTCTTTATTCTTAATGGTTGACTTATTTTCTTTACTCTCTTGTGTTTTTCAAGTTTTAATTAATGAGACTATATTACTTTAGTAGTGGAACACAGGTTGTCTAACATTTTATTGTGCACATTTTTAAACATACAGCAATGTTTAAAGAGGTTTACGGTGAAAACCTGTCTGCTGTTAACACTTACGTATGCCTGTGTCCTCACCACCTGTCACCTCTCTCTCTATCTGTCCATCAATACACCCATCCTCAATTTATCTGTTTTTTTTTTTTTTGCTACATTTCAAAATAAATTTCAGATGGCAATGCATTTCCCACTCCATATGTCAGCATGCATGTCATTATAACTAGAGTCCAATACTAGCTTACTGTTTTATTCCTTTGAAGCAAAATTTGTAGTGTGAAACGCACAAGTACTAACAGCACCTTTGCTGAGTGTGGACAAATATGGACATTGTGTGTAACTCAAATCCCTGCCACAGTAGAGGACATCACCAGCCTCCAGAAAGCTCACCATGCCTCTTCCCAGGCAGTGCTTGACCCCACCTCTCCAAACATATCCACTATTTTTATTTCTTCCACCATAATGTAACTTACCTGTTTAGAATTTTATATCCAAAAAAAAAACTTCACAAAAAATGTATACAAGAATGTTCATAGCTGCTTAATCCGTAAGAGTTAAGATTAGAAAGCCCAGGTGTCCATCGATAGGATAGTAAACAAACGGTGGCACATTCATGCAAAGGTAGGTCACTCAGCCATAAAAAGGAGGGGACGACTGATATACACAGCAATATGGGTGATTCTCAAAAGCCTTGTGCTGGGTGGAAGATACCTTCCCAAAAGAATGCATTCTGTACCATGATGTTTAATCGCATCCTTTCCTCCTTCCCAGCAGGCCACATCTTAGGGCTTCCCTTATATCCACACACCGTATTCCCTCCCGCTGGTGCACTTGAAGGTAAAGAAGCGATGGCTGCCTTGCAGGGGGCAAGTCCTAATTCCGTTTATGGCAAGATCTTGAGAAATGCCAGACTTTATTTTTTTTCTTTTATTTTAGGTTCAGAGGTACATGTGCAGGTTTGTTGTATAGGTAACTCATGTCATGGGAGTTTGTTATACAGATCATTTTGTCACCCAGGTACTAAGCCTAGTACCTAATAGTTATTTTTCTGCTCCTCTTCCTCCTCCCACCTTCCACCCCAATGTCTGTTGTTCCTCTCTTTGTGTTCATGAGTTCTCATCATTCAGCTTCCCCTTGTAAGTAAGAACATGTGGTATTTGGTTTTCTGTTTCTGTGTTAGTTTGCTAAAGATAATGGCCTCCAGCTCCATCCATGTTCCTGCAAAAGACAGGATCTCATTCTTTTTATCATTCTTTTTTATGGCTGCACCATTCCATGGTGTATATGTACCACACTTTCTTTATCCAGTCTGTCATTGATGGGCATTTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGTTGCAGTGAACATTCTCATGCATGTGTCTTTATGGTAGAATGATCCGTATTCCTCTGGGAATGTATCCCGTTATGGGATTGCCAGACTTTAATAGCAATCATAGCTCTCATGTGTGCCCTGTCTGCAGGCTACCTGGCGACATCAGTGGAGGAGGGCCCTCTCCCAGGCTAAACAGGTGTTTCTCTCTTTTGAGAGGTATACCTTTAGAACTCCAAGGTGAGCTGACCATTGCCTGCAAATGGCGTGTCCTTACATTCGTATTATATTTTGCAGAAAAAGCGTGAAGTCATACTAAATAAGTCAACAAACGCTTTTACAACTGGGAAGATGTCTCACCCCCCAAACATTCCGAAGGAACAGACCCCAGCAGGGACGTCGAATACAACCTCAGTCTCAGTAAAACCCTCTGAAGAGAAGACTTTTGAAAGCAAAAAGACTTACAACAGTATCAGCAAAATTGACAAAATGTCCCGAATCGTATTCCCAGTCTTGTTCGGCACTTTCAACTTAGTTTACTGGGCAACGTATTTGAATAGGGAGCCGGTGATAAAAGGAGCCGCCTCTCCAAAATAACCGGCCACACTCCCAAACTCCAAGACAGCCATACTTCCAGCGAAATGGTACCAAGGAGAGGTCTTGCTCACAGGGACTCTCCATATGTGAGCACTATCTTTCAGGAAATTTTTGCATGTTTAATAATATGTACAAATAATATTGCCTTGATGTTTCTATATGTAACTTCAGATGTTTCCAAGATGTCCCATTGATAATTCGAGCAAACAACTTTCTGGAAAAACAGGATACGATGACTGACACTCAGATGCCCAGTATCATACGTTGATAGTTTACAAACAAGATACGTATATTTTTAACTGCTTCAAGTGTTACCTAACAATGTTTTTTATACTTCAAATGTCATTTCATACAAATTTTCCCAGTGAATAAATATTTTAGGAAACTCTCCATGATTATTAGTTGACCAACTATATTGCGAGAAACAGAGATCATAAAGAGCACGTTTTCCATTATGAGGAAACTTGGACATTTATGTACAAAATGAATTGCCTTTGATAATTCTTACTGTTCTGAAATTAGGAAAGTACTGCATGATCTTACACGAAGAAATAGAATAGGCAAACTTTTATGCAGGCAGATTAATAACAGAAATACATCATATGTTAGATACACAAAATATTTCCCTGAGGAAAAAAAATCAACTGCTTAAATTTTTTGGGAAGAAAAAGAAACATTTCTTACCCCACACCACCCACTACCTGAACAATAGCCAAGAAAGGAAAGGAGATGTTAAAACAAACAGTGTTTTGATGACATTCTCAGCACTTGGCCCATGTGATCGCTGTCTCTGAAACACTGACCACCTCTCCCTACAGCCAGCGTGTAGTGCTTCAGTGGTGAGAAATTGTAATTGAGTTATTTTCCATTTTATTTCCTTGTATGTATTTCATGACTGGACTTACTGCTCTGTCAGCTTTTGTATATGAATCTTAAATGTTCATTAAAAAATAAAAAATGAACTGATCTTGTGGACATATAGGATTCTTTTTTTTTTTTAATTTCATGTTTTGGTGGACTCATTTCCTGAAAGTGGCATAAATGGAACCCACCGTGAAATTGCTTGGGAACGAATCAAAACAAAACAAAACGTTTACTTGGTGGCTTGTCTCTGGTCCAACCTAATTCCACAGAGTAGCACCTGGAGAGAAAACTTACTTAAACCACAGCGAGGGTAGACAGCTAAAAGCAGGTATAGTCCATCACAAATTTCTCAGTGGTGCAGTGTCGCTTGGGCCTCTACTTGACAGAGTCTTCTCTGAGTGTGTTTCAAGGTGGGTGTTTGTTGTGGGCATGGTGACTACTTGGTTCTTTACATATGGGAAGATTTCATTATCCCCCCGTCCCACCCCACTTTTTTTTTGGGACAGGGTCTTGCTCTGTTGCCCAGACTGGCATGCAGTGGCTCAATAATGGCTCACTGTAGCCTCAACCTCATAGGCTAAAGCAATTCTCCCACCTCAGACCCCTAAGTAGCTGGGACCACAGGCATGCACCACCATGCCTGGCTAATTTTTAAATTTTTCAAAGAGACAGGGGTCTCACTATGTTGCCCAGGCTAGTCCTGAACTCCTGCGTTGCCCCTTCATTAACTGGTTTTAGGATCTCACAAATGGAAGGGTAAAGACCAGCAGAAAAGATACTCTTCAGTGCGCACATGAAGAAGCATTTCCCTATTATAAATAATGATGATATTTGTATAATGAGAGTGTTTTCTCTTATACCACAGCAAAAATCCCAGCCAAAAAAAAAAAAACAAAAACAAAAAACAAACCTAAGGCTCAGTAGAAGATCCTGTTTTCGTATACTATATAGTTACATTCCTCTCCTATAGTCTGTAGAGTTTAGCTTTGTGCTGTGGTTTGGAGAAAAATATACTGTAAATTATGTCCAAAT
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Task1_train_20477
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This variant affects the gene OCA2 (OCA2 melanosomal transmembrane protein) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Inborn genetic diseases
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TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGGGAAGTTGGTGTTTCATGGGGAAAGAGCTTCAGCCTGGGCTGGTGAAAAGAGCTCTGCAGATGGACGGTGGTGACGGCTGCGCAACGCTGTGAATGTCCCTAATGCCACTGAACTGTGCACTTACACACAGTTAAGATGGTACATTTTAGGTTACACATATTTTACCATAATTTCTGTAAAATGCTAAATCTTGAGTCAACGAGAAAGGGCCTTGAGAGAATAAGTGTAGAGTTAACTCCCAACACAACTGCACTCCTGCCGTGCCAGGAACAGGTGCCTTTCAATCGCCAGAGCTACTAGATTAAAACGCTCCCAAGACTGAAAACATTCATTATTCGCTGCATCCCTGCTTCCAAAGTGTGCTCAGTTAATAAGTGTCTAATCCTATTTTAGGAATTAGCCTATAAATGGCACACATTGATGTCTCTCCTAGAGAAATCTCCTCCACATTGATCCTACATGTTTTGGGGAAATCCAAACTAGCTCACGAGGCCTGTCACTCTGTATGACCTGGCTTCACACTTCCCTGTCTGCAGAACCTCCTCCGATGTCTCCAGTCTCTCCTCAGGGCCCTGTGCACTCAGGGCACACCACCGTTACAGGACGTGTCAGTCTATGCTGTAACCTTAGTTTAGGTGACCATCCTCCCCACTCGACAGCAGGGGGGTGAATTCACTGTCTGTTACAATGTCAGGGTATAGCAGATGCTCAGCAAGTTCAAATGAACAGAATCCTCATAGGGGATGCATTTCCAGGTGTCCTTGGATCCTGTTCCTTATTGTTGATGTTAAATGTAGCTCTGCATTGCCTTCCCGGGACTGGTTCTTAGGGGCAATTTCAGCACTCAATTTCAACAAGTTCTACACTCTCGGAAGAACTTGAGGCATCAGTCACTGACTTACATGAATTAGCTGGCTGCTGACATTACAGAAACTTCACTGAATGACATTAATCCCCCTTTTCAGCCAAGGAGATAAACTAACCAGAGAGGTATTGATTTAATAGTCAGAAATCAATCAAAGAACAAAGAAAGCTGGATTATCTAAGAATACCTGGATATAAGAATAAAAACTTAAAGCGTATCTGATGTGTTGATCTAAGATTCTTCACAATCCCCCTGTGTTCCCAAAGGTGATCAGGCTTCTTAGCTGTGAGAAGGACTCCCCCGCTGTTCTCTCCACAGCAACGGCATCCACAACCCTGTGTCTGCTCACCAGAGGTCAGTCTCTCCCAACACTCTCTCTAATCCACTCCTCACTGTCTCCAAAGTGCAATGCCCACCCCAAAAACATCCTTTAATCTTTCTTCCCACTCTTATGGGTTAGAGTCTCCCCTTCTAGCTGACCCATTTGTCCCTCCACTGCTTAAGAGAGAAAGAGAACTGCAACTGAGGATGGCTTCTGATTCAAAATCTGTTTCTAAACCTAAGCACGACCCACACAGGCACACGGCGGGAACACATTAGCTGTGAAGCATCAGAACCAGTCATCCCCAGGCAATGGGCCCGGGAAGTCGGGGGCAGCTCTGCAGAGAATGGGAAGGAACGGAGTTGCTCTGGAATTGCTCTGTCAAAGCTGAATATGTGTGTCCACTCAGGAAATCATCCAGACTCTCCTTCATTTGCTTTTAATCTGATACACACTAACTGTTGCTTTGGGCTGAACCACAGTGTGGGCGTGCACCCCCACCCCCATGCAGTCAGCAGCCCCTTACCTCCCAGGCAAGCACCGAAGGCCAGGGCATACATGAGCGGCGGTGCGGGCAGGCCAACCTCAGGGTCGTGGCTCAGGTTCAGGAGCACGGGAATCTGTGGAGGAAGAGGACATTGATGCCACGTCCCATGGACGCTCAGAGAAGCTGCCATACTGTGACCAATTTAGAAAATCCAAATGCTTTCTCAGCATTCAAACTCTAAGGAGCATAAGATTTGTGGAAAGAAACCAAAGCAGACTTTGGAATCCACAGAAACTTGAGTTTGAACTCATCTGTATGTCTTTGATGCCAGCTGCCACCAACTGGTCCTCCTGGTCCTGAGCCCTGCCAGCTGTTGTGGCTCTTATACGGGGTAAAGGCACACAGAGTCTAACACAGGGCCTGAGAACATGGCCATTAAAACAGAGCTCATAGAACCCTGGAGTGCTGTGCTAACTATGCACACGTCATCTTGAATCCTCAACATCCCTCAAGTGTGCTGTTACTCCTTCCTTTGACAGATGAGGAGACCAGGATGCAGAGAGGCACAGGAGCACAGATCTTGAAAGCAATCCAGCCGGAACTCACACACAGTCCCCTGACCCTAAACTGCATGCTGGGTCCCCTGTGCTAAGCCACTTATCACGGCTGCTCCCTGCCAGGCACCCTGAGCCTGCTAACATTCACAGCATGACATCAGGTACCAGATTCTACAGCCAGGAAGCACCATTCTCTAGTCAGCCGTGCCAGCCTCTGGTGCACCTTTCTGACGTTGATGCACTTTGCATTATTGTAATCAATGAAACACAGTGGCTGTGAAGTTTCTGTAAGAAATTTGTGTTCAAGTCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCACCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGACTTAAACATTAGATCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCTATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAATTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGG
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TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGGGAAGTTGGTGTTTCATGGGGAAAGAGCTTCAGCCTGGGCTGGTGAAAAGAGCTCTGCAGATGGACGGTGGTGACGGCTGCGCAACGCTGTGAATGTCCCTAATGCCACTGAACTGTGCACTTACACACAGTTAAGATGGTACATTTTAGGTTACACATATTTTACCATAATTTCTGTAAAATGCTAAATCTTGAGTCAACGAGAAAGGGCCTTGAGAGAATAAGTGTAGAGTTAACTCCCAACACAACTGCACTCCTGCCGTGCCAGGAACAGGTGCCTTTCAATCGCCAGAGCTACTAGATTAAAACGCTCCCAAGACTGAAAACATTCATTATTCGCTGCATCCCTGCTTCCAAAGTGTGCTCAGTTAATAAGTGTCTAATCCTATTTTAGGAATTAGCCTATAAATGGCACACATTGATGTCTCTCCTAGAGAAATCTCCTCCACATTGATCCTACATGTTTTGGGGAAATCCAAACTAGCTCACGAGGCCTGTCACTCTGTATGACCTGGCTTCACACTTCCCTGTCTGCAGAACCTCCTCCGATGTCTCCAGTCTCTCCTCAGGGCCCTGTGCACTCAGGGCACACCACCGTTACAGGACGTGTCAGTCTATGCTGTAACCTTAGTTTAGGTGACCATCCTCCCCACTCGACAGCAGGGGGGTGAATTCACTGTCTGTTACAATGTCAGGGTATAGCAGATGCTCAGCAAGTTCAAATGAACAGAATCCTCATAGGGGATGCATTTCCAGGTGTCCTTGGATCCTGTTCCTTATTGTTGATGTTAAATGTAGCTCTGCATTGCCTTCCCGGGACTGGTTCTTAGGGGCAATTTCAGCACTCAATTTCAACAAGTTCTACACTCTCGGAAGAACTTGAGGCATCAGTCACTGACTTACATGAATTAGCTGGCTGCTGACATTACAGAAACTTCACTGAATGACATTAATCCCCCTTTTCAGCCAAGGAGATAAACTAACCAGAGAGGTATTGATTTAATAGTCAGAAATCAATCAAAGAACAAAGAAAGCTGGATTATCTAAGAATACCTGGATATAAGAATAAAAACTTAAAGCGTATCTGATGTGTTGATCTAAGATTCTTCACAATCCCCCTGTGTTCCCAAAGGTGATCAGGCTTCTTAGCTGTGAGAAGGACTCCCCCGCTGTTCTCTCCACAGCAACGGCATCCACAACCCTGTGTCTGCTCACCAGAGGTCAGTCTCTCCCAACACTCTCTCTAATCCACTCCTCACTGTCTCCAAAGTGCAATGCCCACCCCAAAAACATCCTTTAATCTTTCTTCCCACTCTTATGGGTTAGAGTCTCCCCTTCTAGCTGACCCATTTGTCCCTCCACTGCTTAAGAGAGAAAGAGAACTGCAACTGAGGATGGCTTCTGATTCAAAATCTGTTTCTAAACCTAAGCACGACCCACACAGGCACACGGCGGGAACACATTAGCTGTGAAGCATCAGAACCAGTCATCCCCAGGCAATGGGCCCGGGAAGTCGGGGGCAGCTCTGCAGAGAATGGGAAGGAACGGAGTTGCTCTGGAATTGCTCTGTCAAAGCTGAATATGTGTGTCCACTCAGGAAATCATCCAGACTCTCCTTCATTTGCTTTTAATCTGATACACACTAACTGTTGCTTTGGGCTGAACCACAGTGTGGGCGTGCACCCCCACCCCCATGCAGTCAGCAGCCCCTTACCTCCCAGGCAAGCACGGAAGGCCAGGGCATACATGAGCGGCGGTGCGGGCAGGCCAACCTCAGGGTCGTGGCTCAGGTTCAGGAGCACGGGAATCTGTGGAGGAAGAGGACATTGATGCCACGTCCCATGGACGCTCAGAGAAGCTGCCATACTGTGACCAATTTAGAAAATCCAAATGCTTTCTCAGCATTCAAACTCTAAGGAGCATAAGATTTGTGGAAAGAAACCAAAGCAGACTTTGGAATCCACAGAAACTTGAGTTTGAACTCATCTGTATGTCTTTGATGCCAGCTGCCACCAACTGGTCCTCCTGGTCCTGAGCCCTGCCAGCTGTTGTGGCTCTTATACGGGGTAAAGGCACACAGAGTCTAACACAGGGCCTGAGAACATGGCCATTAAAACAGAGCTCATAGAACCCTGGAGTGCTGTGCTAACTATGCACACGTCATCTTGAATCCTCAACATCCCTCAAGTGTGCTGTTACTCCTTCCTTTGACAGATGAGGAGACCAGGATGCAGAGAGGCACAGGAGCACAGATCTTGAAAGCAATCCAGCCGGAACTCACACACAGTCCCCTGACCCTAAACTGCATGCTGGGTCCCCTGTGCTAAGCCACTTATCACGGCTGCTCCCTGCCAGGCACCCTGAGCCTGCTAACATTCACAGCATGACATCAGGTACCAGATTCTACAGCCAGGAAGCACCATTCTCTAGTCAGCCGTGCCAGCCTCTGGTGCACCTTTCTGACGTTGATGCACTTTGCATTATTGTAATCAATGAAACACAGTGGCTGTGAAGTTTCTGTAAGAAATTTGTGTTCAAGTCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCACCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGACTTAAACATTAGATCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCTATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAATTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGG
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Task1_train_20478
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The gene OCA2 (OCA2 melanosomal transmembrane protein), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGGGAAGTTGGTGTTTCATGGGGAAAGAGCTTCAGCCTGGGCTGGTGAAAAGAGCTCTGCAGATGGACGGTGGTGACGGCTGCGCAACGCTGTGAATGTCCCTAATGCCACTGAACTGTGCACTTACACACAGTTAAGATGGTACATTTTAGGTTACACATATTTTACCATAATTTCTGTAAAATGCTAAATCTTGAGTCAACGAGAAAGGGCCTTGAGAGAATAAGTGTAGAGTTAACTCCCAACACAACTGCACTCCTGCCGTGCCAGGAACAGGTGCCTTTCAATCGCCAGAGCTACTAGATTAAAACGCTCCCAAGACTGAAAACATTCATTATTCGCTGCATCCCTGCTTCCAAAGTGTGCTCAGTTAATAAGTGTCTAATCCTATTTTAGGAATTAGCCTATAAATGGCACACATTGATGTCTCTCCTAGAGAAATCTCCTCCACATTGATCCTACATGTTTTGGGGAAATCCAAACTAGCTCACGAGGCCTGTCACTCTGTATGACCTGGCTTCACACTTCCCTGTCTGCAGAACCTCCTCCGATGTCTCCAGTCTCTCCTCAGGGCCCTGTGCACTCAGGGCACACCACCGTTACAGGACGTGTCAGTCTATGCTGTAACCTTAGTTTAGGTGACCATCCTCCCCACTCGACAGCAGGGGGGTGAATTCACTGTCTGTTACAATGTCAGGGTATAGCAGATGCTCAGCAAGTTCAAATGAACAGAATCCTCATAGGGGATGCATTTCCAGGTGTCCTTGGATCCTGTTCCTTATTGTTGATGTTAAATGTAGCTCTGCATTGCCTTCCCGGGACTGGTTCTTAGGGGCAATTTCAGCACTCAATTTCAACAAGTTCTACACTCTCGGAAGAACTTGAGGCATCAGTCACTGACTTACATGAATTAGCTGGCTGCTGACATTACAGAAACTTCACTGAATGACATTAATCCCCCTTTTCAGCCAAGGAGATAAACTAACCAGAGAGGTATTGATTTAATAGTCAGAAATCAATCAAAGAACAAAGAAAGCTGGATTATCTAAGAATACCTGGATATAAGAATAAAAACTTAAAGCGTATCTGATGTGTTGATCTAAGATTCTTCACAATCCCCCTGTGTTCCCAAAGGTGATCAGGCTTCTTAGCTGTGAGAAGGACTCCCCCGCTGTTCTCTCCACAGCAACGGCATCCACAACCCTGTGTCTGCTCACCAGAGGTCAGTCTCTCCCAACACTCTCTCTAATCCACTCCTCACTGTCTCCAAAGTGCAATGCCCACCCCAAAAACATCCTTTAATCTTTCTTCCCACTCTTATGGGTTAGAGTCTCCCCTTCTAGCTGACCCATTTGTCCCTCCACTGCTTAAGAGAGAAAGAGAACTGCAACTGAGGATGGCTTCTGATTCAAAATCTGTTTCTAAACCTAAGCACGACCCACACAGGCACACGGCGGGAACACATTAGCTGTGAAGCATCAGAACCAGTCATCCCCAGGCAATGGGCCCGGGAAGTCGGGGGCAGCTCTGCAGAGAATGGGAAGGAACGGAGTTGCTCTGGAATTGCTCTGTCAAAGCTGAATATGTGTGTCCACTCAGGAAATCATCCAGACTCTCCTTCATTTGCTTTTAATCTGATACACACTAACTGTTGCTTTGGGCTGAACCACAGTGTGGGCGTGCACCCCCACCCCCATGCAGTCAGCAGCCCCTTACCTCCCAGGCAAGCACCGAAGGCCAGGGCATACATGAGCGGCGGTGCGGGCAGGCCAACCTCAGGGTCGTGGCTCAGGTTCAGGAGCACGGGAATCTGTGGAGGAAGAGGACATTGATGCCACGTCCCATGGACGCTCAGAGAAGCTGCCATACTGTGACCAATTTAGAAAATCCAAATGCTTTCTCAGCATTCAAACTCTAAGGAGCATAAGATTTGTGGAAAGAAACCAAAGCAGACTTTGGAATCCACAGAAACTTGAGTTTGAACTCATCTGTATGTCTTTGATGCCAGCTGCCACCAACTGGTCCTCCTGGTCCTGAGCCCTGCCAGCTGTTGTGGCTCTTATACGGGGTAAAGGCACACAGAGTCTAACACAGGGCCTGAGAACATGGCCATTAAAACAGAGCTCATAGAACCCTGGAGTGCTGTGCTAACTATGCACACGTCATCTTGAATCCTCAACATCCCTCAAGTGTGCTGTTACTCCTTCCTTTGACAGATGAGGAGACCAGGATGCAGAGAGGCACAGGAGCACAGATCTTGAAAGCAATCCAGCCGGAACTCACACACAGTCCCCTGACCCTAAACTGCATGCTGGGTCCCCTGTGCTAAGCCACTTATCACGGCTGCTCCCTGCCAGGCACCCTGAGCCTGCTAACATTCACAGCATGACATCAGGTACCAGATTCTACAGCCAGGAAGCACCATTCTCTAGTCAGCCGTGCCAGCCTCTGGTGCACCTTTCTGACGTTGATGCACTTTGCATTATTGTAATCAATGAAACACAGTGGCTGTGAAGTTTCTGTAAGAAATTTGTGTTCAAGTCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCACCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGACTTAAACATTAGATCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCTATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAATTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGG
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TCACTTCACTTCCTTCCCACAGGTTTTCTGCCTTAGGATTGCACCTGCCAGTAACACCTTAGCACGTGCACTTGCCTCCACCTCTGCTTTCCAGGAAACTCAGGCAAAGGCAGGTTTTTCTGAAGGCTTATTTGAATAGTTCTTAGCTCTTCATGAAAAGAGCAACCAAAAAATACTGGGGTCAGACCAGTTAAAAAAAAAAAAAGTTGTTTCAAAGTATCCAGTGAATCACCTCCAATTTATAGAGCAAATGACATTTCTAAAACCAAATGAAAACTTCTATTTAAAGTGTTCCTCAGAATGCCAGCCCTGGAGGATGGGAAGTTGGTGTTTCATGGGGAAAGAGCTTCAGCCTGGGCTGGTGAAAAGAGCTCTGCAGATGGACGGTGGTGACGGCTGCGCAACGCTGTGAATGTCCCTAATGCCACTGAACTGTGCACTTACACACAGTTAAGATGGTACATTTTAGGTTACACATATTTTACCATAATTTCTGTAAAATGCTAAATCTTGAGTCAACGAGAAAGGGCCTTGAGAGAATAAGTGTAGAGTTAACTCCCAACACAACTGCACTCCTGCCGTGCCAGGAACAGGTGCCTTTCAATCGCCAGAGCTACTAGATTAAAACGCTCCCAAGACTGAAAACATTCATTATTCGCTGCATCCCTGCTTCCAAAGTGTGCTCAGTTAATAAGTGTCTAATCCTATTTTAGGAATTAGCCTATAAATGGCACACATTGATGTCTCTCCTAGAGAAATCTCCTCCACATTGATCCTACATGTTTTGGGGAAATCCAAACTAGCTCACGAGGCCTGTCACTCTGTATGACCTGGCTTCACACTTCCCTGTCTGCAGAACCTCCTCCGATGTCTCCAGTCTCTCCTCAGGGCCCTGTGCACTCAGGGCACACCACCGTTACAGGACGTGTCAGTCTATGCTGTAACCTTAGTTTAGGTGACCATCCTCCCCACTCGACAGCAGGGGGGTGAATTCACTGTCTGTTACAATGTCAGGGTATAGCAGATGCTCAGCAAGTTCAAATGAACAGAATCCTCATAGGGGATGCATTTCCAGGTGTCCTTGGATCCTGTTCCTTATTGTTGATGTTAAATGTAGCTCTGCATTGCCTTCCCGGGACTGGTTCTTAGGGGCAATTTCAGCACTCAATTTCAACAAGTTCTACACTCTCGGAAGAACTTGAGGCATCAGTCACTGACTTACATGAATTAGCTGGCTGCTGACATTACAGAAACTTCACTGAATGACATTAATCCCCCTTTTCAGCCAAGGAGATAAACTAACCAGAGAGGTATTGATTTAATAGTCAGAAATCAATCAAAGAACAAAGAAAGCTGGATTATCTAAGAATACCTGGATATAAGAATAAAAACTTAAAGCGTATCTGATGTGTTGATCTAAGATTCTTCACAATCCCCCTGTGTTCCCAAAGGTGATCAGGCTTCTTAGCTGTGAGAAGGACTCCCCCGCTGTTCTCTCCACAGCAACGGCATCCACAACCCTGTGTCTGCTCACCAGAGGTCAGTCTCTCCCAACACTCTCTCTAATCCACTCCTCACTGTCTCCAAAGTGCAATGCCCACCCCAAAAACATCCTTTAATCTTTCTTCCCACTCTTATGGGTTAGAGTCTCCCCTTCTAGCTGACCCATTTGTCCCTCCACTGCTTAAGAGAGAAAGAGAACTGCAACTGAGGATGGCTTCTGATTCAAAATCTGTTTCTAAACCTAAGCACGACCCACACAGGCACACGGCGGGAACACATTAGCTGTGAAGCATCAGAACCAGTCATCCCCAGGCAATGGGCCCGGGAAGTCGGGGGCAGCTCTGCAGAGAATGGGAAGGAACGGAGTTGCTCTGGAATTGCTCTGTCAAAGCTGAATATGTGTGTCCACTCAGGAAATCATCCAGACTCTCCTTCATTTGCTTTTAATCTGATACACACTAACTGTTGCTTTGGGCTGAACCACAGTGTGGGCGTGCACCCCCACCCCCATGCAGTCAGCAGCCCCTTACCTCCCAGGCAAGCACTGAAGGCCAGGGCATACATGAGCGGCGGTGCGGGCAGGCCAACCTCAGGGTCGTGGCTCAGGTTCAGGAGCACGGGAATCTGTGGAGGAAGAGGACATTGATGCCACGTCCCATGGACGCTCAGAGAAGCTGCCATACTGTGACCAATTTAGAAAATCCAAATGCTTTCTCAGCATTCAAACTCTAAGGAGCATAAGATTTGTGGAAAGAAACCAAAGCAGACTTTGGAATCCACAGAAACTTGAGTTTGAACTCATCTGTATGTCTTTGATGCCAGCTGCCACCAACTGGTCCTCCTGGTCCTGAGCCCTGCCAGCTGTTGTGGCTCTTATACGGGGTAAAGGCACACAGAGTCTAACACAGGGCCTGAGAACATGGCCATTAAAACAGAGCTCATAGAACCCTGGAGTGCTGTGCTAACTATGCACACGTCATCTTGAATCCTCAACATCCCTCAAGTGTGCTGTTACTCCTTCCTTTGACAGATGAGGAGACCAGGATGCAGAGAGGCACAGGAGCACAGATCTTGAAAGCAATCCAGCCGGAACTCACACACAGTCCCCTGACCCTAAACTGCATGCTGGGTCCCCTGTGCTAAGCCACTTATCACGGCTGCTCCCTGCCAGGCACCCTGAGCCTGCTAACATTCACAGCATGACATCAGGTACCAGATTCTACAGCCAGGAAGCACCATTCTCTAGTCAGCCGTGCCAGCCTCTGGTGCACCTTTCTGACGTTGATGCACTTTGCATTATTGTAATCAATGAAACACAGTGGCTGTGAAGTTTCTGTAAGAAATTTGTGTTCAAGTCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCACCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCAGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGACTTAAACATTAGATCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCTATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAATCATCATTCTCAGTAAATTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGG
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Task1_train_20479
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Here is a genetic alteration in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Based on the data, is it a benign variant or a cause of disease?
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Pathogenic; Tyrosinase-positive oculocutaneous albinism
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCGCTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCACTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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Task1_train_20480
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A variant was discovered in gene OCA2 (OCA2 melanosomal transmembrane protein), Chromosome 15. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCGCTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCACTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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Task1_train_20481
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The gene OCA2 (OCA2 melanosomal transmembrane protein) is located on Chromosome 15, where a mutation has occurred. What is the medical relevance of this mutation?
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCGCTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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GTGGCTGCTGTGGTCATGCTGTATGTGGCTTCTGCCCCTGTGGACACACAAGAGCCAGCATCCCACCCTCAGCACCCCCACAGCGGCCACTGCAGAGATGGATGGGACCCACATTCATGAGGGCAGAGATGGTCCTGAGACTCCAGGGGAAGAACAGAGACCTGCCTGTTTATCTGTAATGTTGTATTTCTTGATAAAACACACAACAAATTCTGAGGCAAAGAGGATAAAATGTTGACACTTTCTCACTTTCTGTGGTGAACATATGGATATTTGTTGTACTATTGTCTCTGATTCCATTTTTTAAAGTTAAATTTTAGGTAGTCATAAAAATTTATGGAACAAAACTGTGAAAGTGTCCTATTCTCAGAAAAAGCAGCAACTTAAATCATCAATGCTAGGGCTCTTCTAATTCAGTCCCAGAAAGGATCTGGGTGCAAACCTCAGAGCCCCCCAGAGGTGGGGTTCAGCTGTGAGCGCAGGGTCAGAAGGAAGCACTGATGGAGGCTGTGTCGGGGTCCTGCGCTCGGTCCGCAACTGTGGCCTCATTGGCTGGGACAGCGCGGAGTCTCCTGTGGACTGTGTTTCCCTGGAGAACAGGATGAATGCACAGGATGAAGCTGAGGATTGGGTAAGGGCAGCCCTGCCAGAAGGCATCAGCCTGCCTGGGGCGCAGGGAGAGGTGGAGCCAGCTGGGCCACAGCCGGGACATTTGACAACAGCCGCAAGAGTTCTCCAATTTGGAACTTCACCAAAAAAATAACAGCCACCGAGTTAGTTCAGGATTACCACACCCAGGCCCTGGAAGGAGAGCAACAGCCAAGCAACTAGAGGGCCAACCTAGGCAGAAACTAAATTCCAGGCTGCAAGCGAGGGATGCAGGTTCCCAGATCCGCCTAAGGTCGGCGCTGCATGAGCCTGGCCTGCCCTTCTCCCCACACAGCCAGGCCTGCTGCTCCAGCCCGGGGGTGCCATTGTTCAGAATACTATACAGGGCGGTGGGATGTCTTGGGACCCCCTTGCATGGGATGTTCCCTGCGGGGAAGGGGGAGACCCTCAGAGTCAGAAGAACAGAGGGCTCTCCCCTGTCCTGTGTCCTGCCATGGGGAGTGCTCACCAGGCTTCTGGCCTGTGCCCTGCACACCTGGGACCTCAAGTATTTGTGAGAGGACCCCAGAGACTTGTGTGCAAGCCCCTGGGCCTATCTTTACTTTGCCACACCTGGATTCCCAGTTCCTGCCCTGAGCCAAGCAATCAGTGACGGCAGAAGTCACGCCAGGAACAGGCTCATCTGCCCAACTAAAGGTCTTCGATGTGTACTTCCAATCCTGGCTGGGGCTCAAGACCACACAGAGAATGAAAGATCTTGCCCAGGCCAAGCACTAGGAGACACACAGGCTGGTTAGAATAGCTTTTGCCTCCGCCGCAAATGAAGATGCAAGTCTCTATCTTTTGATGTCTCACAATTTTCGAAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAAGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAGACAGAAAGGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAAAGAAAGAGAAAGAAAGAGAGAAAGCAAGCAAGCAAGCACAGCCTTTTCTGGGAGGGGTGGCAGCTCTCAGTGGGGCTGACCTCGAGATCACCAGTCACCCCAGGACGTGCTGTCCACGGCAGCTGCAGAGCCTCGGCTCCCAGCCTGCAGTCTGGGCTCTCGGCACTCCCCACCCAGCTGCCCTGGGCTCTGCTCACTTTCGTCCTCTACACCTGTGAGTGCAGCAGAGGGGCAGGCTTCATCCTCTGCTGCCTTAGGAAGGGAGGGTGAGCCCCAGGCTATGTCCAGGCTAAAGTTGAGCCGTCGACATGGACATGTGCAACTCACCATGGTAGCAGTGAACGGGATGTTGTCAATCAGGGACGACGCCAGGGCTGAGACCCACACCACCAGGACAATGGCGGCTATGAGGCACTGCTCCTCTGGGACCATCTGGAAGGAGGACAATAGCAGCTGCAGTGTTCCATCGCATGCACTTAGGGTCAGACCCACCAGCCGCGAGACTCAGAGGGGCCCGAGGGTGTTAGTCCTTCCTCTTACCCATCACGAGACCAAGGCAGACATAGGTGTGCAAGCCAGGGCCACACCCACACCAGGAGCCTCTGCTGGGTTTCTACCAGCAAAGCCCAGCCATGCCCAGACCTGCCAGCCCCCTGGATGGGGAGGCAGAGTGACCCTGCCCCTCATCCCCATGTGGTGGCTGCGCACACTGGTCACATTGACCTGATGGCCCGGCAGACCCCTGGGGCTGGGGCGCCTGCAGCACTCATTTACTGAGGCTGGTGTCAATCCCACTCCTTCTCAGACAGGCTTTAAATAAAGGCTAAAAGCAAAAGAGCAGGCATCTGTAATTACATATTCTTCGGAAAAAGTCTCCCTTCATCTCTGGGCTGCACAGGATAGAACAGGTTCCCTGCTGTGCCTTTTTACATAATTAATGGGACCTGTTCTTACCAGAGTGCTTTTTTTTTTTAATTTTTTTCACAAAATCAAAGAACAGTGGCTGGAGTGCCTTCTATTATAGCATTTATTTTACCTTTATTAGCAAAGCAGTTTGTTCTCCAACATATTCTATTAAGTGGAGATGTGCCAATGCCTAGAAGAAAGGATGTGTGGTGAGAATCAGTTTAGAACCGAAAATATATGCAAGATTTAAAAAAAAAGTCTTGAAAATGAAAAGACGTGAACATAAGGTAGGCCCAGATTCCTGCTTCTTATAAAAGATCAGACTCAAATACACAGTCTATAAATAATTTACTATCATATATGCACAACGAAGATTCATGGAGAAAAAGTCCAACAGCAGTGGCAGAAATCCCTCATTGATTTGAGTTAAGGTCCATGTTAAATTTAAATCCGAATGGAAGACTCTCTTTAAGACCTGTGTATAAAGATACTGTTCAATCGTACATAATGAAATACCACTCCATATAGATCTTTCAAGAAAGTCGCATTTCCAATTTCTTTTTAAAGTTAAACATCACAGAGTTTTAAAAGACATTTTTAATGCAGTTTTTGTAATCTTCAAAGAAAGAAAGGAAAAGTCTATTTAACTGGCACATGTAACTATTTTCACAGTACTAGGCAGATTCAGAAAACTGTACTCAGGGAAAGGCAGGAAAGAGTAGAAGAGAGAAGATGAGACGCAGGAGCCTTCTGCCCAGGTGGCCAAGGTCCCACACAGGGATGCCCAGAGGCTCACGACCGAGCCACTGTGAGAGGTCACCGGAAAGCAACAGGTGCCGGTGGCTCAGCTGCCCAGCACCTCTGTGGGTGTGGCCTTTTCACTGTGATTCCATCGCGCTGAAAGACTGCAAATATTGGAAACAGCAGCTTGTCTGCGCTTTTTTCTTTTAATTTTTTAATTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTATTGCTCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACAACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAACGTGCCGGCCAGCTTGTCCAAGTTTAAATTAAGCTTCAGAATCTCAATCTGCATGTACAGTTGTTAGCCGACTTTCATTTAAAAGCTATGGAGCCCAAATGTTGGGTCTTCAATCACGATTCTCCATCAAGTTTGCTTTTATATCAACTAAGTCATAAGGAGAATCTCTTTAGAGCAGGGTTTCTCACCCTCGCCCTGCTAACTTAGAGCCAGATCGTTCTTGGCTGTGGGGCTGGCCCGTGCATTATAAAATGTTGCGTAGCAGCCCTGGCCTGGTGCCACTAGATGCCAGTGGCACCTCACCAACAC
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Task1_train_20482
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Here is a variant affecting OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; not provided
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AACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATATAGTTAAAGATGTGACTTTAAGTATTAAAGTATTGTTTTTAATACAAAGACTGTTGCCAAATGTTAATAAAATTGAATGCAAGCTCTTATATCTTTTTAGTTTTTAAAATGCCTGCTATGTTCCTCTAAAGTAGACTCTCAAATAAAATCAGGAGCAAAATTATCTGTGAACACCTAATGGAACCTCTCTGCCCACAAAACACTAGTTTTTTAAATTTGTTTAATTACCAGTGGTGACCACGTAACATTCTTGTAGTCATTAAGGTTTCTAATGTTAAAATTACATTAGGCCTGAGGCGTAATTAAAAATAATTACACTGCAGCAATTTCTAGATGTAATCCACCAAATACAATTGAAATTCACAAAATCGTTACCACTCCAGCTTTGGATCATTACCTCATCAGGATTCCAAGCAGATCAGCTCTCAGGTGTGGATAAATAATACCTGCCAGCTTGAACCAAGCCCAGGCCACCTGGCAAGTTGGATTTGAGATTATCAAGAGAAAGAAATGGAGGGGCTGCAAATACATAACACAAAGCTGGAACTCCAGTCAAAAGCACATACATCATGTGTTGTGTGAGAATCTAGAAATGCGGCTTTTTTACATAAGAGAAAAGGAAGACCAACTTCTAGCCCATGAATGTCTGATGGTTTCCAGGAACCCCGGAAGCAATGATGTGGTGCGAATCGCTGAAGCTTGAGGCATTATCCATCTATTTTACAAAATTAAGAGGCTTCACTTTCTACGGCAGCTGCACTCCTCAAATTTCACAGTGAACCAAGGTTTTATACAAAATAAGATAAAAGTTGGGTATTTTAACCATCTTAGCAGAGCTCACTTTTGAAGGAAAACTATGGGTAAAGCTTTGGTAAAAGAAAAGACTGTGACACCACCTCAAATTTATGCTTCTTATAAACCTACACTTTCATGTGGGGTGGGTTTTGTTTTGTTTTCAATAAGGATACCAATGGAGATAACTGTGAAATTGATAAGAAACGCCTGGGAGAGTGGAGAACGTTTATGGAGGGTGGAGGAGGCCAGGGGTTGACAAGCTCTGTGGTGAGCTCCCCCTGAGAGAGCCACATCTCAGGTGGGGATAGGTCCTGGCCACAGCACAGGCTAGAGAAAGTGGAGAGGTCTGAGAGCCATGGGTGTGGTGAACGTGGGAGAAGAGAAACCAATGGTGGACGGTGGGAGAACAGTTTCATGCGCCAGATGCACCCTCAGACAAGGCAAGTGGGCCCTGCAGAGCACCGGCCATTCGCCAGGGCTCTCCCGAACAGACTGTCACCTAACTGGCATGGTAGGCGGCACAGATGGCAGCGCTGGCCTTGCCCATGTGGCTCCATCTCTTCTGGGAACCATGTAAAGATGTGGTTATTAACTACAATAGACAGGACAGTGCCCACTCTATATTCCTCCTCATGGTCATCCCTGGAGGGGCTGAGGACCCATGGCACAGAGTCTAAGGGGCCAGAGATGCATCTCTCTCTCCCTCCCTCCTGCCCAGGAAACCAAAAGGAAAGGCGCCCTTCTTCCCAGGGCAGGCTGCCCACCCTCCATCTCAGCCCTCTCTGGCCTTCCACCAGCCCGGCTGCCTGTGGGCAAAGTCAGTGTCTGGGAACAGGCTCTGAAACCTTCCCATCCAGAATGTGACAAAGCCTATGAACCAAAGCTAAATTAGACTCACCAAGATCAAGATGAATGCCAGGGACAAACGAATTGAGGAAAAACATGAAGATAACAAATCCCAACACTGTCAGGCATTTGGCGAGCAGAATCCCGTCAGATATCCTATGCTGTAAGAGAGAAACCACAGCTCATTTACTCTGCACAACCTTCTGACTCCTGCAGCGTGTCATAACCTACGCAACTGGAATCACGACAGATTTCACGAGGATGAAAAATGTAACCTCTCGAACTTGAAAGAAAATGGCAAAGTACTGTGTTACAAGGAAACCCGTACAGATTCAGGATTACTGCATTCAAAATCTTTATGAAAGATAAACACAGATGTCAAGAGTAGCACAGCCCTGTTATGAAACACCTGGCCGGCAGGTATCAGAGGATGACGGGGCGTTTCTACAGGGGCCTATGCTGTCTTCACTGTTCCTTTCTCTACCACGCCAAGCATGCGGGTGGGGCCATGAGGCTGAGCCTTCTCACGGAACTGTGACTCCCAGATAAGGCTCTGGCCATGTTCTTTACACGACATGCATGAGGCCCCTGGAATGCAGGGGGTGCACTCTTAGCGCTGGAATGACACCCGCGAGAATCCACCTGGTCATAGGGGGAGGGCAGGCCCCGAGGCACCTCATCCTCCGCAAGGCCTCCATCAACCTAGGAGTACCTAGGAGACGGCACGAGACGGGGCTCTCCCTATGAGGCCCCAAGGGTACTGTGCTCCACAGGCCATGGCTGCGTGGGGCCAGGGCAGGGAAGCACGCACAGATGGGCACCTGGTAGGCCTGCCCTGTTAACAAGGTCCCCGTGTGAATGCCGGCCCACTGTGTGAAAGGATAACTGCACCAGGTCCTTTCTCTTTCTTTCTTTCTTTCATTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTCATTTTTTGAGACAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCAACGCAACCTCCGCCTCCCAGGGTCACGTGATCCTCCTACCTCAGCCTCCCTCCCCAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCAGCTAGTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATGCGTCCACCTCTGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCTGGCAAGCATCAGATCCTTTCTTGAGTCTGGTCCCACCAGCACACCTGTCTACCCATCTGTCTAATCTGTCTAGGTGGATTAGATGGAGACAGCAATGATGATGAATGTCAATGTCTGTAGCTTCATGGATGCAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGGAAGGCCGATTTTCCTACATGATTCTGTGCTGAAGAATTAGGGCCAAAGGAGCATGGCAGGAAAAAGATTTGAAATGCTCAGAGGAGAGTGATGCGGATTCTCACCAGGCATGAGGGGAGGCACTGCAAACCTTCCCTGAGGTCGCAGCAACCACAGAAAGTGGCTATTGCCACAGCCAGTGCAAAGATTGGAGGTGGAGGAGTAGGCAGGTCAAAGAGCATTCCAGCATCCTGCAGCTCATGGAAGTGGAGGTTTTTTGGGGGTATCATTCAAATTTGCTCCTTCTGGATACCTGAGGTCATTTCTTTTTTTCTGTTTTCTTTTTTTTTTCTTTTTCTTATTTCAATAGGTTTCAGGAAGACAGGTGATGTTTGGTTATATGGGTAAGTTCTTTAGTGGTGATTTCTGAGATTTTTGGTGCTCCCATAGCCTGAACAGTGTACACAGTACCCAATGTGTAGTCTTTTATCCCTCGCCCCACTCCCACC
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AACTGTATTCCATTAAAATATATGCCAATCAAACTTTTCTCCTAGTCAACCTAACCTATCTTGATAAATATGCAGTATCTGGATCCCCAGATAAAATCACCTGAACACAAGCCCTAACTAAAAACAAAACAGGATTTAAAAGCAGAAAATAAACATGTCCATCATTCACAGATGTAACAACCACACAAAAGGAGATGAGACATTTTGTAAAAAAAACGTAGACTTGCAGGCTAAAAGTTTCATAGTAACCAAGATTTTTTAAGTCCATATAGTTAAAGATGTGACTTTAAGTATTAAAGTATTGTTTTTAATACAAAGACTGTTGCCAAATGTTAATAAAATTGAATGCAAGCTCTTATATCTTTTTAGTTTTTAAAATGCCTGCTATGTTCCTCTAAAGTAGACTCTCAAATAAAATCAGGAGCAAAATTATCTGTGAACACCTAATGGAACCTCTCTGCCCACAAAACACTAGTTTTTTAAATTTGTTTAATTACCAGTGGTGACCACGTAACATTCTTGTAGTCATTAAGGTTTCTAATGTTAAAATTACATTAGGCCTGAGGCGTAATTAAAAATAATTACACTGCAGCAATTTCTAGATGTAATCCACCAAATACAATTGAAATTCACAAAATCGTTACCACTCCAGCTTTGGATCATTACCTCATCAGGATTCCAAGCAGATCAGCTCTCAGGTGTGGATAAATAATACCTGCCAGCTTGAACCAAGCCCAGGCCACCTGGCAAGTTGGATTTGAGATTATCAAGAGAAAGAAATGGAGGGGCTGCAAATACATAACACAAAGCTGGAACTCCAGTCAAAAGCACATACATCATGTGTTGTGTGAGAATCTAGAAATGCGGCTTTTTTACATAAGAGAAAAGGAAGACCAACTTCTAGCCCATGAATGTCTGATGGTTTCCAGGAACCCCGGAAGCAATGATGTGGTGCGAATCGCTGAAGCTTGAGGCATTATCCATCTATTTTACAAAATTAAGAGGCTTCACTTTCTACGGCAGCTGCACTCCTCAAATTTCACAGTGAACCAAGGTTTTATACAAAATAAGATAAAAGTTGGGTATTTTAACCATCTTAGCAGAGCTCACTTTTGAAGGAAAACTATGGGTAAAGCTTTGGTAAAAGAAAAGACTGTGACACCACCTCAAATTTATGCTTCTTATAAACCTACACTTTCATGTGGGGTGGGTTTTGTTTTGTTTTCAATAAGGATACCAATGGAGATAACTGTGAAATTGATAAGAAACGCCTGGGAGAGTGGAGAACGTTTATGGAGGGTGGAGGAGGCCAGGGGTTGACAAGCTCTGTGGTGAGCTCCCCCTGAGAGAGCCACATCTCAGGTGGGGATAGGTCCTGGCCACAGCACAGGCTAGAGAAAGTGGAGAGGTCTGAGAGCCATGGGTGTGGTGAACGTGGGAGAAGAGAAACCAATGGTGGACGGTGGGAGAACAGTTTCATGCGCCAGATGCACCCTCAGACAAGGCAAGTGGGCCCTGCAGAGCACCGGCCATTCGCCAGGGCTCTCCCGAACAGACTGTCACCTAACTGGCATGGTAGGCGGCACAGATGGCAGCGCTGGCCTTGCCCATGTGGCTCCATCTCTTCTGGGAACCATGTAAAGATGTGGTTATTAACTACAATAGACAGGACAGTGCCCACTCTATATTCCTCCTCATGGTCATCCCTGGAGGGGCTGAGGACCCATGGCACAGAGTCTAAGGGGCCAGAGATGCATCTCTCTCTCCCTCCCTCCTGCCCAGGAAACCAAAAGGAAAGGCGCCCTTCTTCCCAGGGCAGGCTGCCCACCCTCCATCTCAGCCCTCTCTGGCCTTCCACCAGCCCGGCTGCCTGTGGGCAAAGTCAGTGTCTGGGAACAGGCTCTGAAACCTTCCCATCCAGAATGTGACAAAGCCTATGAACCAAAGCTAAATTAGACTCACCAAGATCAAGATGAATGCCAGGGACAAACGAATTGAGGAAAAACATGAAGATAACAAATCCCAACACTGTCAGGCATTTGGCGAGCGGAATCCCGTCAGATATCCTATGCTGTAAGAGAGAAACCACAGCTCATTTACTCTGCACAACCTTCTGACTCCTGCAGCGTGTCATAACCTACGCAACTGGAATCACGACAGATTTCACGAGGATGAAAAATGTAACCTCTCGAACTTGAAAGAAAATGGCAAAGTACTGTGTTACAAGGAAACCCGTACAGATTCAGGATTACTGCATTCAAAATCTTTATGAAAGATAAACACAGATGTCAAGAGTAGCACAGCCCTGTTATGAAACACCTGGCCGGCAGGTATCAGAGGATGACGGGGCGTTTCTACAGGGGCCTATGCTGTCTTCACTGTTCCTTTCTCTACCACGCCAAGCATGCGGGTGGGGCCATGAGGCTGAGCCTTCTCACGGAACTGTGACTCCCAGATAAGGCTCTGGCCATGTTCTTTACACGACATGCATGAGGCCCCTGGAATGCAGGGGGTGCACTCTTAGCGCTGGAATGACACCCGCGAGAATCCACCTGGTCATAGGGGGAGGGCAGGCCCCGAGGCACCTCATCCTCCGCAAGGCCTCCATCAACCTAGGAGTACCTAGGAGACGGCACGAGACGGGGCTCTCCCTATGAGGCCCCAAGGGTACTGTGCTCCACAGGCCATGGCTGCGTGGGGCCAGGGCAGGGAAGCACGCACAGATGGGCACCTGGTAGGCCTGCCCTGTTAACAAGGTCCCCGTGTGAATGCCGGCCCACTGTGTGAAAGGATAACTGCACCAGGTCCTTTCTCTTTCTTTCTTTCTTTCATTTATTTATTTATTTATTTTTATTTTTATTTTCATTTTCATTTTTTGAGACAGTCTCACTCTATCACCCAGGCTGGAGTGCAGTGGCACAGTCTCAGCTCAACGCAACCTCCGCCTCCCAGGGTCACGTGATCCTCCTACCTCAGCCTCCCTCCCCAGTAGCTGGGACTACAGGTGTGCACCACCATGCCCAGCTAGTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGCCCAGGCTGGTGTTGAACTCCTGGGCTCAAGCAATGCGTCCACCTCTGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACGCCTGGCAAGCATCAGATCCTTTCTTGAGTCTGGTCCCACCAGCACACCTGTCTACCCATCTGTCTAATCTGTCTAGGTGGATTAGATGGAGACAGCAATGATGATGAATGTCAATGTCTGTAGCTTCATGGATGCAGGTGGATCTCGATATCTACCATCATAGTGATCTATAGCTATCTGGATTTGGACAGATATAGACATATAGATATATAGATATAGACACACAGAGGTAGAGCTAGAGCTACAAAGAGATTCTCTCTCTTGCTTCCTCTGGTCACAAAGGTAAAGCTGCTGCCATCAAAAACACATGCAAGGCCCTCTGTGTCACAACAGCTGACACAGCCCCTCCTCTATGTGCAGTGGGGCCACTGGTGAGCATCTGCCCCTCCCTGCCCACCGTGAAGGCTCATGGCTGGGCCAGCCCCTTCTCATCTTCCCTGTCGCCTCTCTGGGGAAGGCCGATTTTCCTACATGATTCTGTGCTGAAGAATTAGGGCCAAAGGAGCATGGCAGGAAAAAGATTTGAAATGCTCAGAGGAGAGTGATGCGGATTCTCACCAGGCATGAGGGGAGGCACTGCAAACCTTCCCTGAGGTCGCAGCAACCACAGAAAGTGGCTATTGCCACAGCCAGTGCAAAGATTGGAGGTGGAGGAGTAGGCAGGTCAAAGAGCATTCCAGCATCCTGCAGCTCATGGAAGTGGAGGTTTTTTGGGGGTATCATTCAAATTTGCTCCTTCTGGATACCTGAGGTCATTTCTTTTTTTCTGTTTTCTTTTTTTTTTCTTTTTCTTATTTCAATAGGTTTCAGGAAGACAGGTGATGTTTGGTTATATGGGTAAGTTCTTTAGTGGTGATTTCTGAGATTTTTGGTGCTCCCATAGCCTGAACAGTGTACACAGTACCCAATGTGTAGTCTTTTATCCCTCGCCCCACTCCCACC
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Task1_train_20483
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An alteration has been detected in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGCTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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Task1_train_20484
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Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Tyrosinase-positive oculocutaneous albinism
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGCTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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Task1_train_20485
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A genetic alteration is present in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Oculocutaneous albinism
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGCTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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Task1_train_20486
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A variant was discovered on Chromosome 15, affecting OCA2 (OCA2 melanosomal transmembrane protein). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Tyrosinase-positive oculocutaneous albinism
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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AGTGATTGGTTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGCTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCT
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Task1_train_20487
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Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Tyrosinase-positive oculocutaneous albinism
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TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCTCAGTCCCCG
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TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGTTCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCTCAGTCCCCG
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Task1_train_20488
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A genetic alteration is present in OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGATCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCTCAGTCCCCG
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TTGCCAGACATTGCAAATTTTACCCTGTGTGTTGTTGAATATTTTTGTATCACTCTAAATATTCTTGACGTTTGTTCTAGGATGCAGTTAAAATACTTAGAAACAGTTTGGTTCTTTGGGGTCTTAGTTTCAAGATTTCTTAGGTGGAAGCAGAGCAGTGTTCAGTTTATAGTTAATTACCCCTCATAACTGAGGCAAGACACTTGTGAGTACTCTACCCAGTGCTCCATAAATTAAGAGGTTCCAGTCTGCCTGGCAGAACAGATATCATTACTATTCCTGTCGTGTGCGTCAAGCACTTGTCCCTCTCATCTTTCTGGGTTGTTCTCCCCGGGTCTCATGTAGTCTCCTCGCATGAATGCACTGATCTGAACACTCTGCTGAACACTCCAAAGGGACCCTCTGAGGATCTCTGTGGTTCAGCTGTGTCCTCTCTGGACTCTCGCTGCCCTGGTCTCCCCAGACTTTCAGCTTCATCCTCTCAACTCAGGGGGTGTCATGGGCTTGGCCAGGGTCGTCCCTCCCTGCACTGCACTCTGGAAGCTCTCTTGAGGTAGTGAGCTGGAGCAGTCATAGAGCTCACCGCATTTGTTTCCCGTCTCACAGGGATCACTGTCCCTTTGTGCCTGTTATCCAGTGACTTGGTTACCATTGTTCCATGTGTTTTGTCTGGTTTTGGTTTATTTTTGTTTTGTTTGACTATCCCAGGCAAGAGAGTAAATCCAGGCCCTGTTATTCCATGTTGGCCAGAAGCAGAAGCTGTGCTGTCTTTTGTACTCATCTATATCCACATACAAACACTCTAGGATGCTATTTGCACCAAAATATTAAAAGAATTTACCTCTGGTTTTTGGAATTATGAATTTTTATTGTATGTGCATGTGCATGTCTGTGAGACTTCTGTTTTCTACCAAAAAAAGTATTACCTGTTTATGGAATGAAACTAACAATACAATTTTTTTCTAAAAATACTTCTATTCCATGAGCATGAGCTCCATCCTGGATAACAGGTGCCCCTAGCATAAACTGCAGGGTCTGTTACCACCTGACATGCTCCAGGGTGGCATGACCATGGCTGCACACCTCAGTTCACATGGCAAAGTTGGTGAAGTGTTGCCAAGCAGTTTCCCACGGCAGCTAGGGAATGCAGAGCCATACCCAGAACCTCTGGAGCGCACTGCTTCCATGAAGCGGCCATTAACACCCTGGAGCCATGGATTCTCAAATGTTTAAATATTTTTATGGAACACAGCGTTCAAATACAAACACACTGCTACCCTTCAGGCACACACACACACAAACACATCATCTACAAGAAATAACACCAATGTGGAAGCATTTTCACTGATGCCTCAGAGGAGGAAGATTGAGAAAATTCTAATGATCAAAGAGTAGAGAATAAAAATTAATGATATAGTTCAATTTTCACCTTGAAGATATGTAGAATACCTTGCACTTTCTAATACTTTGTCTTTATTACAGTATACAAAGAAATTATACCCTAATATTTATATGGGGCTTTCAAAGAATTTCTAAAGACATTCATTTCTGACCCTTAAAAAATAAATTTTAAGTCCTTCATCAGTAAACTAATCCACCACAGTTTGGGAATCCCATATCTCCAGTGAGAGGGAACAGGTCATTTTGTTTTTAATGTAGGTTGGAAGAAACCTCAGTTCCTATTAATACAATTAATATAACATACTATGACTAACTACATCATGCTATCCAGTCATTTCTTTAAAAACTGATCAGAATGAGTATGAAGTCAATTCAAGCCAGTTAACTCTAGGATTGAAGGACCAGTCACCTAACATCCCAGTCTTGAGATGCCCAGTAGCACTTACTGTGAAGAGGTGGCGTGATGATCTTGATTTCTAACAAAGGCGTCCATGTGGGGTAGAGCTCTAACTAAGTGGAGGTGTGCGTTTACTGGAAGCAACCCTAGCATGCTGGTACGTACCATCTTCCTCAGCTCTTGGTTGGAAACAATAATGACATTTGGAGGGTCCCCGATGGCAGTGGCAGCTCCTCCAATGTTTGTGAAGTTCACTTCTGCAATCAGGACTTGTCTTGGATCAAGGTTGAGCACCTCACACAACCTGTCACAAATGGAGGAAAATGAAAGTAGTCCCACTATACACATCGTGAAAGGCCCACATGCAACCCAGAGATTTTTAAGGCGCTTGCTCGTATAAGGGAGGCGCGCACACACACACACCCCTGTGGGGAAGGCAGTGCTGGGGGGAATGAACAACTGCAACAACCCCCGCAGGCCACAGCTCACTCCGAGAGTTACATTCCTTTCCAGAGTGAGCCTCCAGCCACCAAACCCTCGGTGTGGTCAGGTACCCTTTCCCCAATGCTCCCAGGTCTGGAGGGAGCACTGGCCCCCAGGGCAGGGCAGGCCCTCCACAGGCAAGCCAGTGCTGTGGGGGTCAGTGTGGAGGCAGTGCGGATGGCTCACACAGGGCCTGCTGACTCAGCCCCTTTCCCACCTCCCCCTTCCTGGACACCAAGGCCCTAGGCTCTCTTCTCACCCCCTCCCTTTGTTTTATTCATCTATGTATTTTCTATGTATTTACTTTGTATTGCTATAAAACATACTAGATATATATATACATACATACATTTTCAGGGTGCATATGATAATGTAATAATTCACATAATCAAACCAGGTAACTAGGATAACCATCCCCTTAAATATCAATCTGTTCTTTACCCTGGGAGCATTCCAGTTATTCTCTTCTAGCTATCTTGGAGTGTACAATCAATTCATGCTAACTGTATTCACCCTACAGATCTGTCTAAGCCACATTCTACAGCTGTGGAGCTCCACCATGGCCTCACACTAGATTTGTGCTGGAATCTGGGAGTCCTACAACTCGCCCAGCGCAGACCAGTGCCTGGGAGTGGGCCCGGGCAGTGGTGCTCTACAGCTCCCCAGGGGACCCAGTATGCACACAGCTGGGAAACATTGCTCTAAAGAAAGTGTAGAAGGCACATCACAGCATCCCCTACACCTGCTCATCCACACAGCCCACTCCCACACAGGACCCGGCCTTGGGTCTCACTCAGAGGCCTCCCACCACCTCAGCAGATGGTGATGGAGAAGAACATGGACAGGGACTCCTGGCACCTGGGCACCTGGTGGTCTGGGGTGAGCCATTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGTGGTGGCGCAATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCACGTGCCACCACGCCTGGCTAATTTCTGTATTTTTAGTAGAGACGGGGTTTCACCAGGGGTGAGCCATTCTTGTCCACATGTCTCCCCATGAGACCACAATCTCCAGGAAAGCAAGGCCTATGTCTTCCACCTCCTGCAGGCATTTCTGCCACCAGCTTCTGAGGCCCCACTGCTTGTAGCATGTACTGCAGTCACACAAAGCAGACACGAGCTGGACTGGAATGCAGTGAGCTGTGGGCTCAACCGCCCCCACCTTTTCATGCACCTGAGAATGGAACCTGGAGCCAGGCAGTGCAGGCAGAGCCCCTGCCTGCCAGAACCTGGCCGCAACTCCCACGGCAGAGGTGCTTTGCGTACCTTATGGTCACAGGCGTGAAGAGGAGCATGGTGGTGACGTTGTCCAAGAAGGCAGAGAGGACGGCCGCGATGAGACAGAGCATGATGATCATGGCCCACACCCGTCCCCGGGAGAGCCGGTATGCCTGGCCACACACACACAGAGAGAGTACAAGCCAGAGTGAGCAGGCTCGTAGAACAGAGGCAGCCTTTCATTAGTGACTTTAAGAACAGGGAGCCAAACTAACATTACCCCATGGGTTAAGACATAGACCCACGGAGTCCTAGGGGGGCCGAGATGAGACAGTGCTGGCCATCGAAGTTCCTAGACATTCTAAATCCTCCCTAGCCAGCACTGTCACCCCTCTGATCCTCTTCCTTCACAGAGCCCCTGTGATGGTTAATTTGTCACAAGGTGATGACCCTCAGTCCCCG
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Task1_train_20489
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Gene OCA2 (OCA2 melanosomal transmembrane protein) on Chromosome 15 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Tyrosinase-positive oculocutaneous albinism
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ACTAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGGGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGACGGGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGAGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGTCCGAACTTGAACAAAAATATGAATTAACCTTTCTGTCCTTCAGTTTTCTCACCTTACCTGTGAATGTTCTATACTTTGTCAGGTTATGAAAATGCAATATAATTATTCAAATTACAATACTCAGTAAACAGGAGTCCCAACAGACACTATTGTCTCTCAAATAAACTATAGAAAACAAAAATGTCCCCAGTCAATTTAGACCCAGTGTAAATATCCACCATGTCCAGAGTGACCATCAATGTTCATCCTCACCCAAAAGGCCACTGAGAGCTGACGGTGGAGCGTGGGGCTTCGCACACCAATGTAGCTTCACGTGAATACGCATGAGGAGACAGGCGTGTGGAGACCCATGTGGTGTTTTACACATTTGCTGACAGAACCACCCTGGGAGACTAGAACTCAGGGATGGGGGTAAATGGTCCCATGGGTGGTTGGCTGCCAGGAAATGGGGGAGAAGAGGCAGGGACCTGGTTGTAACGACCCTGTACCCTGCAGTTCCAGAATCACAGAACCTGCCAGTGCTCGCTGAACTGAATTCCACCGAGAAAAACGTGCTGAAGCCATTTTTATAGGCTGTGTCCCCCAAAATTCATATGTTCACCTCCTAGCCCCTAGTACCTGGGAATGTGAGACTGTATTTGGAGTGAGGGCGTTGAAGGAGGTAATTAAATTAAAATGAGGTTGTTAGGGTGAGCCCTCATTCAGTGTGACTGATGTCCTTATAGGATGAGGGTCTCAGGAATCAGAAACACACGGGGAAGACAAAGTGAAAACGCTGGGAGAAGGTGCCATCTACAAGCCCAGGAGGGAGGCTCAGGAGAAAGCATGCCTGCCCACACCGTGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGGCACGGTTTCCATCAGGTCACATAGCTGGGCCCTCCGTTATGTCAGCCAGCCTTGGGAGGGACGAAATGTTGGCAAGGAAAATGAGGATCTATCGTGCCCAGCTGTACACAGAGCAAGTCTTCTAGCCCAGAGAGGAAGAGCCCTCCTGCAGACCACTGGACTGTTTGGGGTCTGCTGAGGAACACGTGGACTGCCCCTGCTGCCCAGGCTCCACTGGTTCTAGTTAAGCTGGGTTAGGACTCACACTAGTGAGTCCCACACTAGCCCGCTTGGGCACTTCGAGATCCTGCAGGTGGACTTGGTGGCATTCCTCACAGCAGAGTGGCCACTGGGCACTATGATCAATTGGTAAACACCCAACTAATACTTAGGAGTGACACCTTCCTTTATTCACATAATGAAAGGTACTCTCTCTCCCACTGAAACTCCTACATGGTTTATTTATTTGGGATAGTCCATTTTTTTTATTTTAACGGAAATAACTCAAAAGAATTGCTAGCTTTTCTAAATGGCAATATGACTTCATCGTCAGACACGCCTTGGGCTGAAATTCTCCCGCCCACGAACCATAGCCCCATTCCATTCCTCCTCAGGAGATTCATGAGACCTGCACTAACACTTCTCAGTCAAGCCCTAGGCGCTGTGTCTTTAACATAATGAAGGACCCTCAGCGGTGGAGGCCAGAGAAGGCCCGGTTACCGCAGGCGTGGAGCCCAGTCCCACGGGGAGAGCTGTAATTACCATGCCAAACAGCAGGGCCAGCGTCTCAAAATCAATCCACTCCACCACATGGGTCAGGCTGGGTCTCTGCAATCAAAGCACAAATTTGCCAATTAATCCGTGCGCCGCCATCCCAGTGATGAGCCTAATGAAGCGCTGCCCCCTGCTGCAGACCCACTCAGTGGGCGGGCCAGGGTTGGAAATCTCACCATCCACTTGCCTTTGAAGTTGGATTATATCGCTGCTGAAAAACAGTCTTGACCCAGGGCATCTATAATGTCAAATCTATGCATTTAGTAATAAAGTTTTTTCTAGCCCCTGCCTCTGGCAGCTCCCACATGGCGGGACTGGCCCCTGGTTACATTCCGAGTGGAGTCTGTATGTGCTCTCTGCAGTGCCGTGCCTGAGACCAGATGACAGGAACTGGCATGGCAGCTGTCCCACTCTCAGCTGGGTTCCAGCACTGCCTCTCAGACAACTCTGGGCCTCCATCCCCAGTGGCCACTGGTCTCTGTTGTTTCCCTACATTTGTTTCCCATGTCCCTGCCAGAGAGGCCCTGCTCAGACCCAAACAGGACACCCTCATCCCCAAACACGCCTCTCCAGGGGCCTCCTGATCTCTTCAGGACAGACCCTGGCCCAACTGACTCCCACCTTTCTGCACCAGCTAGGACGGTCCCCTCTAGTTCCAACACCCAGATCCAGCCCCATCACAACCCAGCTCCACAGCCCTAGGCAAACATGCCCATGAGGAGCCTTTCCTCCACCACGATGAGGAATCACACCACTGGGATGTGAGTGTGTGACAAAACCTAATGAAAAGTACTCTTCAATGCTGTAGCTTGTTAGTTCATACCTCTAGCATGGTTCTTGGGCAAAAACATGGACGTGGCATATAAAATAGTGAAAAAACCAGCGAAAGCCTGAATCCTGGAACATCTTTGAGCTGACATCCCACTGAGTGGTAAGCCAGGGATTGGGACTGTGACAACTTACATCGCCAATCACAGCCAGTGCTGCCAGTGCTGCAAGGGAACCCAGCATGGCCGCCAGAGTTCTGTGCACGATCTGGAAAGAAGCACAGGAAATTACCGCGTTCCAGTGCACGAGGGAGTTAGCACACACGAAAGCCTGTGTGGACATGAGGGGGTCTATATCTGCCACTGTGTACCACATCTATTCAAATGATAAGTCATGGGTCTTGATGTTTCAGGCCTGGACACCCCACAGACACATACAGCTACCACCAACGTGCCATCTAAGGGAAGCTGCTTGCATTTCCTAAATAATTAGATGACCCTGATAAAGCAGCGGAAGGCCAGATGGAGTATGTTCTATGAGAAAGGCCATAGCAAACTGTCATTAATTATTTGCCATATGCTCCCTTGGCAACTGGCCCATTTGTTCAGCAACATAAATCAATTCCTCCCAATTACTAGGCTGCTGTTAAACCAAAGGTACACAGTCCAACACTTCATCTAATTGAGATGTCTGTGTTATCACAAAAGCATCTTTTCTATTTGATTATAATTCAAATGGAAGTGGAATTTCTAAGACAAAATATGAGAAAAGGCCAAGATGTGGAGAATTGGAGCCCTCATACATTGCTAGTGGGAATGTAAAATGGGCTAGCCACTGTGGAAAGCAGTTTGGCAGTTTCTTACGAAGTTAAACATAAATTTACCATATGACCCAGCAATTCTACTAGGAATCCACCCAAAAGAAATGAAAACACATGTCCACACAAAGCACTGATGCTCATAACAACATTATACAAAGGAGGCGAAAACTGGAAACTTTCCAAATGTCCATCCGTGGTGAAGGGATAAAGAAAATGCGGCACAGCTCGTGCACGGATGAATGCTTAGAAGTGATGCTGGGGAAAGAAGCCAGACACAGAAGATGGGGTCGGTCCATCTATATGAACTTTCCAGAAAAAGTAAATTTAGAGAAACAGAAAGATCAGGGCTGCCCAAGGCTGGGGAAAGCAACAAAGGTTGACTGGAAACGGGTCCCAGGGATCCTTATGGGGTGATGAAATGTTCTAGAACTTGTGATGGTGGCAGAAC
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ACTAAAAAAAAAAAAAAATACAAAAAATTAGCTGGGTGGGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGACGGGGAGCTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGAGACAGAGCGAGACTCTGTCTCAAAAAAAAAAGTCCGAACTTGAACAAAAATATGAATTAACCTTTCTGTCCTTCAGTTTTCTCACCTTACCTGTGAATGTTCTATACTTTGTCAGGTTATGAAAATGCAATATAATTATTCAAATTACAATACTCAGTAAACAGGAGTCCCAACAGACACTATTGTCTCTCAAATAAACTATAGAAAACAAAAATGTCCCCAGTCAATTTAGACCCAGTGTAAATATCCACCATGTCCAGAGTGACCATCAATGTTCATCCTCACCCAAAAGGCCACTGAGAGCTGACGGTGGAGCGTGGGGCTTCGCACACCAATGTAGCTTCACGTGAATACGCATGAGGAGACAGGCGTGTGGAGACCCATGTGGTGTTTTACACATTTGCTGACAGAACCACCCTGGGAGACTAGAACTCAGGGATGGGGGTAAATGGTCCCATGGGTGGTTGGCTGCCAGGAAATGGGGGAGAAGAGGCAGGGACCTGGTTGTAACGACCCTGTACCCTGCAGTTCCAGAATCACAGAACCTGCCAGTGCTCGCTGAACTGAATTCCACCGAGAAAAACGTGCTGAAGCCATTTTTATAGGCTGTGTCCCCCAAAATTCATATGTTCACCTCCTAGCCCCTAGTACCTGGGAATGTGAGACTGTATTTGGAGTGAGGGCGTTGAAGGAGGTAATTAAATTAAAATGAGGTTGTTAGGGTGAGCCCTCATTCAGTGTGACTGATGTCCTTATAGGATGAGGGTCTCAGGAATCAGAAACACACGGGGAAGACAAAGTGAAAACGCTGGGAGAAGGTGCCATCTACAAGCCCAGGAGGGAGGCTCAGGAGAAAGCATGCCTGCCCACACCGTGATCTCGGACTTGCAGCCTCCAGAGCTGTGAGAAAATACATTTATATTATTTAAGCCACACGGTCTGTGGTACTTTGTTACATAGTCCTAGCAAACTAATATAGCATTCCTTTTTTAAAAAAGGCGTATCTCAGGGATATCTGGTACACTTCCTCTCTTCTATCCAGATGCCCAAACTCTGTATACGTCTCAGGCCCGACACAAGTATTAGTTACTCTGTGAAGCCAGGGTTAGAGCACTGGCCTGCCTCCCTGCGCACCACCCACAGAGGATGGCGGCACGGTTTCCATCAGGTCACATAGCTGGGCCCTCCGTTATGTCAGCCAGCCTTGGGAGGGACGAAATGTTGGCAAGGAAAATGAGGATCTATCGTGCCCAGCTGTACACAGAGCAAGTCTTCTAGCCCAGAGAGGAAGAGCCCTCCTGCAGACCACTGGACTGTTTGGGGTCTGCTGAGGAACACGTGGACTGCCCCTGCTGCCCAGGCTCCACTGGTTCTAGTTAAGCTGGGTTAGGACTCACACTAGTGAGTCCCACACTAGCCCGCTTGGGCACTTCGAGATCCTGCAGGTGGACTTGGTGGCATTCCTCACAGCAGAGTGGCCACTGGGCACTATGATCAATTGGTAAACACCCAACTAATACTTAGGAGTGACACCTTCCTTTATTCACATAATGAAAGGTACTCTCTCTCCCACTGAAACTCCTACATGGTTTATTTATTTGGGATAGTCCATTTTTTTTATTTTAACGGAAATAACTCAAAAGAATTGCTAGCTTTTCTAAATGGCAATATGACTTCATCGTCAGACACGCCTTGGGCTGAAATTCTCCCGCCCACGAACCATAGCCCCATTCCATTCCTCCTCAGGAGATTCATGAGACCTGCACTAACACTTCTCAGTCAAGCCCTAGGCGCTGTGTCTTTAACATAATGAAGGACCCTCAGCGGTGGAGGCCAGAGAAGGCCCGGTTACCGCAGGCGTGGAGCCCAGTCCCACGGGGAGAGCTGTAATTACTATGCCAAACAGCAGGGCCAGCGTCTCAAAATCAATCCACTCCACCACATGGGTCAGGCTGGGTCTCTGCAATCAAAGCACAAATTTGCCAATTAATCCGTGCGCCGCCATCCCAGTGATGAGCCTAATGAAGCGCTGCCCCCTGCTGCAGACCCACTCAGTGGGCGGGCCAGGGTTGGAAATCTCACCATCCACTTGCCTTTGAAGTTGGATTATATCGCTGCTGAAAAACAGTCTTGACCCAGGGCATCTATAATGTCAAATCTATGCATTTAGTAATAAAGTTTTTTCTAGCCCCTGCCTCTGGCAGCTCCCACATGGCGGGACTGGCCCCTGGTTACATTCCGAGTGGAGTCTGTATGTGCTCTCTGCAGTGCCGTGCCTGAGACCAGATGACAGGAACTGGCATGGCAGCTGTCCCACTCTCAGCTGGGTTCCAGCACTGCCTCTCAGACAACTCTGGGCCTCCATCCCCAGTGGCCACTGGTCTCTGTTGTTTCCCTACATTTGTTTCCCATGTCCCTGCCAGAGAGGCCCTGCTCAGACCCAAACAGGACACCCTCATCCCCAAACACGCCTCTCCAGGGGCCTCCTGATCTCTTCAGGACAGACCCTGGCCCAACTGACTCCCACCTTTCTGCACCAGCTAGGACGGTCCCCTCTAGTTCCAACACCCAGATCCAGCCCCATCACAACCCAGCTCCACAGCCCTAGGCAAACATGCCCATGAGGAGCCTTTCCTCCACCACGATGAGGAATCACACCACTGGGATGTGAGTGTGTGACAAAACCTAATGAAAAGTACTCTTCAATGCTGTAGCTTGTTAGTTCATACCTCTAGCATGGTTCTTGGGCAAAAACATGGACGTGGCATATAAAATAGTGAAAAAACCAGCGAAAGCCTGAATCCTGGAACATCTTTGAGCTGACATCCCACTGAGTGGTAAGCCAGGGATTGGGACTGTGACAACTTACATCGCCAATCACAGCCAGTGCTGCCAGTGCTGCAAGGGAACCCAGCATGGCCGCCAGAGTTCTGTGCACGATCTGGAAAGAAGCACAGGAAATTACCGCGTTCCAGTGCACGAGGGAGTTAGCACACACGAAAGCCTGTGTGGACATGAGGGGGTCTATATCTGCCACTGTGTACCACATCTATTCAAATGATAAGTCATGGGTCTTGATGTTTCAGGCCTGGACACCCCACAGACACATACAGCTACCACCAACGTGCCATCTAAGGGAAGCTGCTTGCATTTCCTAAATAATTAGATGACCCTGATAAAGCAGCGGAAGGCCAGATGGAGTATGTTCTATGAGAAAGGCCATAGCAAACTGTCATTAATTATTTGCCATATGCTCCCTTGGCAACTGGCCCATTTGTTCAGCAACATAAATCAATTCCTCCCAATTACTAGGCTGCTGTTAAACCAAAGGTACACAGTCCAACACTTCATCTAATTGAGATGTCTGTGTTATCACAAAAGCATCTTTTCTATTTGATTATAATTCAAATGGAAGTGGAATTTCTAAGACAAAATATGAGAAAAGGCCAAGATGTGGAGAATTGGAGCCCTCATACATTGCTAGTGGGAATGTAAAATGGGCTAGCCACTGTGGAAAGCAGTTTGGCAGTTTCTTACGAAGTTAAACATAAATTTACCATATGACCCAGCAATTCTACTAGGAATCCACCCAAAAGAAATGAAAACACATGTCCACACAAAGCACTGATGCTCATAACAACATTATACAAAGGAGGCGAAAACTGGAAACTTTCCAAATGTCCATCCGTGGTGAAGGGATAAAGAAAATGCGGCACAGCTCGTGCACGGATGAATGCTTAGAAGTGATGCTGGGGAAAGAAGCCAGACACAGAAGATGGGGTCGGTCCATCTATATGAACTTTCCAGAAAAAGTAAATTTAGAGAAACAGAAAGATCAGGGCTGCCCAAGGCTGGGGAAAGCAACAAAGGTTGACTGGAAACGGGTCCCAGGGATCCTTATGGGGTGATGAAATGTTCTAGAACTTGTGATGGTGGCAGAAC
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Task1_train_20490
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A variant affecting Chromosome 15, within the gene OCA2 (OCA2 melanosomal transmembrane protein), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
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AGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGTGGAGTGCTTCTAAAACTGTGGGTGCCTCCATCCACTGAGCAGAGGGAAGCACAAACTGTGACCAGTGTGCCCCCGGCTCACCAGAAAGCCTCAAGTGCCAGGCCTTTCTGGAAGGCTGCTGGTGCCCTGCTGGGTAGGTCACTGGCTAAGGAGAGGGTGTCCTGGGAAGATGTAGTGAGACTGCCAGAAGGACTACAAAAACCAAGACTATGCAACAGATTACAGCAACTGCAAGGAAAGCAAGCCAGTTTCCTAAAATTTCAGTTCACTGAGGCTATCAAGTAAGTAGACTAAAGAAAAAAACACTTGCCATTTAGCTAACTGAATTAATTCCTTTTTAAATAATAATCATCAAAAATATTTGCCTGATCAGAGCACTGCATCGGAGGGTCCCACCTCTCCAGGACCCTCCACGGATGCCCGCCGCACTAGCAGTACCGGGGGCTTCAGGGGCCTTCATGCACAGACACCTTAATGACCATGTCCATTCCAAAATAGGCTCTGGACCCTGGCTGGAGAGCTGAGAAACAGCCCTCCCACCCTTTCACCCAGAAAAGGCTGGGCGGACATCAGTTAACCGCCCACTCCTGATCCCAGAATAAGGCTGCAGCAGAAACAACTCGCCTGAAACCTAGAGCAAAACAGGTGACTGTAGGAAGAGGCGGCTTCCCTGGGACAGGTGCCAGCCCCACACTTCAGAATCAGGCGGGATTCAGCCAGAAAATGTAGACATTGCTCAAGGTCAAGTGTGGGCTCGCTTGAGCGTGGGAGCCTCTGAGAGCCACAGATGGAGGTGTTCACATTTTCTTGCAGGCTTTTCCTCCAGGAACCCCAGCGGACGCTCCCCAGGAAGACAGGAAGCCTGGGGAAGATCCCGGGAAAGCATCCCCCAGTGATGCCAAGCTTCACCCTCTCCCGCTGCCTCTATCTCCCCTAAGGAGCAAAGGCCTTCATTTGCTTGGGAAGCGCATCTAATCTGGCAGCCAGAGGGCGCAGTGGGAATTCCTGCAGCCATGAGAAGGTAGGAGGGGAAAAAGTAGCTCTTACCCCAGTGGGAGGGGTGGGCATAGAGCAAGGTCTGGCAGACAGCTGGCAGGGCGCCCGGTAATTCTGAGTGTCTAGTGCACCGCAGGTTGCCACAGCAACCGCAAACCTCAACACAGCCAGATTCTCACTAGATTTACATGAACCCTCCAACTAATGCCTGCAGAAGTCAAGGCATGCTCATCTCCAAGCTTAAACACCACTGGCCTCTGTATCTACTATCCTACAGGATGTGTATGACTTCTAACTAAAAATTCTGAGGCATGCAAGAAGGCCAGAGCAAGCACAGTAGGAGGTGCCACAGCAGTCATCAGAGCAAGGTGACACAGCCAGGACAGCAGGGACTGGAAGATGGGTCACGCTGAACGCAAAAGAGACGGGGGAGGAAAGGAGTATCGGGGAGCTAGGGAAAGCCAGGTCCTGGCTGGAATGTGCCCTGCTGTCCCCCTTCCTCACTCGGAGAGCTCCACCACCAACCCCGCCACTGTCTCCCTGGAGCTCCCCGCCCCTCTGTCCTGAGACTCCATCTCTCATCAGACATCCTGGAGAAACAAAATTCGAGTGGTAATGGCCTGTGCCGTGGCCTTCAGCAGCAGTCACAACCGTCTGCAAGTGTCTCCTTGTGTTTCAGATCTCAGCCAGGCGGCTGGCCATCTCAGAGTGGATTTTGGATACAGTAGTTCTCCAGCGGTGATAAGGCCAACAGCTGCCAGAGCTTTCCTTGATCCGGATATAGGCTGAACAAAATCTGTAACAATCAGAAACGTTGAATGACAGAGGTGTGGTATGAGAGCAGTAAGGTATAAATCATTTTGATAACAGTCGAAAACAGATGTGATGATGGGGCTACTGTGTGCATCCAGTACGCGCCAGCTTACTCTGAATAGCTTTGTCTTAAATATTATAATATTCTGATTCATTACAGTGTTCAGCTACAATGGGCCCTGATTATTGATACCTGCCAAATTTAAGGATTAAATGCCTGGCCATAAAATTAAATCATCGAAGAAGGATAAATGTGGTTTTCTCACAATGGAGAATAAAGGCATATGACCCCTGTGATGGTTAGAGCATGTGTTTGTGGTAGCAGGTGTTTGTGAAATTTGCAAAGCACCTTATACACCATCAAAAAGTAAATTAAACTGATGATAACATGAGATTATAGAAGTTCAAATCATTCCTCAAATTCTATTTTGGATATCTCCACAAATCACCTAAACTCCATCTCACAGAAGAAGGCTGAAGACTGGACACAGAGCTCAGGTCAGCTCTTGGGGACCAGGGGAGACCTGGCCCACCCTGCCCGGTTCCTTTGAAATCTCAGAGCACCTGCCAGGCCCTGCTGAGCAGCAGGGCTTCAGAAACACACATTCATGTGAGTAGGAAGTGGGGAAGCAAATTGGTAGCCAAAAATATCAAATCGTGATGCTTTCAGAGCTCAATGTAATTGGTTTTCCATTTCTAGCATAGGTTTCCTTTCTCTGGGTCACAGATCTCCTCCCTCATGGGTTGGTTATTAAGAAGTTGACTGTACTCAGCTCAATGCAATCAGCACTGACTTCGTACACCACCCTGCTGTCCACATGTCACAGCTGAGAGCGGACCCAGGGCCACAGACATTCCTGCACGCACGCAGAGCCACAACACACATGCCACGCGTGCAGGTCACGAAACAGCCAGCAACAGCCACACATCTCATGCACAGGGGACCCTGTCACCAGGGCAGGCTGCGTGGGAGAGCACACCACCCCCTAAGCTGGTGCACATCATGAAACACAGCTCAGACCCACCCTTGCCCACAACCACAGTCACACCCCCATCACAGCAGCACCTACCACCCACTGTGGTCTCCCAGCAACTGCCCATGCACACCATCTTGGAGCAACACTCAAAAGTGGCACTCACCCAAAATAACTCCGCAAAGCACAGGCACAACCCATCATGGTCACTGACCACAACCTACACAGCTCACACAGGTGCACACACAGAGACATACAGCAGGCACAGGGGACCACACACAACCTACACAGTTCACAATGGTGCACACACACAGACATAGAGCAGGCACAGGGGACCATACACCCACGTGCAGACACGAAGACACACAGCCACAGACAGGAGACCATATACTCACCTGCACACACACAGACACACAACCAGACAGGAGACCACACACCCACTCATTGGGCAAATGTATTTTGAGTGCCGCTATGTGACCCTGGCTCAGGCTACATCAGGCCACAAAGCACACCAAGGCTGGCAGTGGGACCTGTGACTGTCGCCTCGGAGGGCACAGAGGTGTCTCTGCAGCCCTGGCTCCCTGCTCGGGCTCCTGTGCCTTTCCCTTGATGGGTCCATCTGCTAGGACCCCTCCAATGAAGAACAGCACCGCCCACTGCCATGGGCTCACCAGAGCAGCCCTCGCCCTCCCCTCGTTCCCACACTCTGTTCCCTACAAGGGCATCTCACGTTGGTTTGGCTCCAGAATGAGTCTGTTGTGAATGTTCATGTATTTGAAAGGATGGAGATGTCTGGGCAAATAAAATCAGAGACACCTCCCCAGAGGGGGCAAACCTCAGAGCTTCAACACTTACCGCTGGGCAGAGGCCCAGGGCACAATCTCAAAGGGGTGCTGAGACACTCTGGGCTATCCACGATCTCCAGATGTGTTCCAACACACATGAAGAGTGCTACTGTCCAGGGCTGAACAGGGAAGTGGTAAGCCACTCGAGGGGGAA
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AGCCTGGCAGCCGGTTGCTCTATCTCCCCTTCCCCCTGCGGGAAAGTCCTGCCCAGGAGGGTGGCATGTCCTGGGAACTTCATGAGGGGGGCCAGGAACACAGGGCAAGTCTTGGCTTTCTTCATCCTGGAGAAGTAATGCAGAGGTCGAGGCACAAGAATGAGAAACAAAGTCTGTCAACATCACACAGCTCTTCGGTTCTCTCACATGGAGATACTTTACAGCTCAGGCACGGTTTTAAAGTGATGAAGAAAATACAAACACGTGCACACGCACTCAGCTGACATCAGCACCGCCCTGACCCCAGTGGAAGTGGAGTGCTTCTAAAACTGTGGGTGCCTCCATCCACTGAGCAGAGGGAAGCACAAACTGTGACCAGTGTGCCCCCGGCTCACCAGAAAGCCTCAAGTGCCAGGCCTTTCTGGAAGGCTGCTGGTGCCCTGCTGGGTAGGTCACTGGCTAAGGAGAGGGTGTCCTGGGAAGATGTAGTGAGACTGCCAGAAGGACTACAAAAACCAAGACTATGCAACAGATTACAGCAACTGCAAGGAAAGCAAGCCAGTTTCCTAAAATTTCAGTTCACTGAGGCTATCAAGTAAGTAGACTAAAGAAAAAAACACTTGCCATTTAGCTAACTGAATTAATTCCTTTTTAAATAATAATCATCAAAAATATTTGCCTGATCAGAGCACTGCATCGGAGGGTCCCACCTCTCCAGGACCCTCCACGGATGCCCGCCGCACTAGCAGTACCGGGGGCTTCAGGGGCCTTCATGCACAGACACCTTAATGACCATGTCCATTCCAAAATAGGCTCTGGACCCTGGCTGGAGAGCTGAGAAACAGCCCTCCCACCCTTTCACCCAGAAAAGGCTGGGCGGACATCAGTTAACCGCCCACTCCTGATCCCAGAATAAGGCTGCAGCAGAAACAACTCGCCTGAAACCTAGAGCAAAACAGGTGACTGTAGGAAGAGGCGGCTTCCCTGGGACAGGTGCCAGCCCCACACTTCAGAATCAGGCGGGATTCAGCCAGAAAATGTAGACATTGCTCAAGGTCAAGTGTGGGCTCGCTTGAGCGTGGGAGCCTCTGAGAGCCACAGATGGAGGTGTTCACATTTTCTTGCAGGCTTTTCCTCCAGGAACCCCAGCGGACGCTCCCCAGGAAGACAGGAAGCCTGGGGAAGATCCCGGGAAAGCATCCCCCAGTGATGCCAAGCTTCACCCTCTCCCGCTGCCTCTATCTCCCCTAAGGAGCAAAGGCCTTCATTTGCTTGGGAAGCGCATCTAATCTGGCAGCCAGAGGGCGCAGTGGGAATTCCTGCAGCCATGAGAAGGTAGGAGGGGAAAAAGTAGCTCTTACCCCAGTGGGAGGGGTGGGCATAGAGCAAGGTCTGGCAGACAGCTGGCAGGGCGCCCGGTAATTCTGAGTGTCTAGTGCACCGCAGGTTGCCACAGCAACCGCAAACCTCAACACAGCCAGATTCTCACTAGATTTACATGAACCCTCCAACTAATGCCTGCAGAAGTCAAGGCATGCTCATCTCCAAGCTTAAACACCACTGGCCTCTGTATCTACTATCCTACAGGATGTGTATGACTTCTAACTAAAAATTCTGAGGCATGCAAGAAGGCCAGAGCAAGCACAGTAGGAGGTGCCACAGCAGTCATCAGAGCAAGGTGACACAGCCAGGACAGCAGGGACTGGAAGATGGGTCACGCTGAACGCAAAAGAGACGGGGGAGGAAAGGAGTATCGGGGAGCTAGGGAAAGCCAGGTCCTGGCTGGAATGTGCCCTGCTGTCCCCCTTCCTCACTCGGAGAGCTCCACCACCAACCCCGCCACTGTCTCCCTGGAGCTCCCCGCCCCTCTGTCCTGAGACTCCATCTCTCATCAGACATCCTGGAGAAACAAAATTCGAGTGGTAATGGCCTGTGCCGTGGCCTTCAGCAGCAGTCACAACCGTCTGCAAGTGTCTCCTTGTGTTTCAGATCTCAGCCAGGCGGCTGGCCATCTCAGAGTGGATTTTGGATACAGTAGTTCTCCAGCGCTGATAAGGCCAACAGCTGCCAGAGCTTTCCTTGATCCGGATATAGGCTGAACAAAATCTGTAACAATCAGAAACGTTGAATGACAGAGGTGTGGTATGAGAGCAGTAAGGTATAAATCATTTTGATAACAGTCGAAAACAGATGTGATGATGGGGCTACTGTGTGCATCCAGTACGCGCCAGCTTACTCTGAATAGCTTTGTCTTAAATATTATAATATTCTGATTCATTACAGTGTTCAGCTACAATGGGCCCTGATTATTGATACCTGCCAAATTTAAGGATTAAATGCCTGGCCATAAAATTAAATCATCGAAGAAGGATAAATGTGGTTTTCTCACAATGGAGAATAAAGGCATATGACCCCTGTGATGGTTAGAGCATGTGTTTGTGGTAGCAGGTGTTTGTGAAATTTGCAAAGCACCTTATACACCATCAAAAAGTAAATTAAACTGATGATAACATGAGATTATAGAAGTTCAAATCATTCCTCAAATTCTATTTTGGATATCTCCACAAATCACCTAAACTCCATCTCACAGAAGAAGGCTGAAGACTGGACACAGAGCTCAGGTCAGCTCTTGGGGACCAGGGGAGACCTGGCCCACCCTGCCCGGTTCCTTTGAAATCTCAGAGCACCTGCCAGGCCCTGCTGAGCAGCAGGGCTTCAGAAACACACATTCATGTGAGTAGGAAGTGGGGAAGCAAATTGGTAGCCAAAAATATCAAATCGTGATGCTTTCAGAGCTCAATGTAATTGGTTTTCCATTTCTAGCATAGGTTTCCTTTCTCTGGGTCACAGATCTCCTCCCTCATGGGTTGGTTATTAAGAAGTTGACTGTACTCAGCTCAATGCAATCAGCACTGACTTCGTACACCACCCTGCTGTCCACATGTCACAGCTGAGAGCGGACCCAGGGCCACAGACATTCCTGCACGCACGCAGAGCCACAACACACATGCCACGCGTGCAGGTCACGAAACAGCCAGCAACAGCCACACATCTCATGCACAGGGGACCCTGTCACCAGGGCAGGCTGCGTGGGAGAGCACACCACCCCCTAAGCTGGTGCACATCATGAAACACAGCTCAGACCCACCCTTGCCCACAACCACAGTCACACCCCCATCACAGCAGCACCTACCACCCACTGTGGTCTCCCAGCAACTGCCCATGCACACCATCTTGGAGCAACACTCAAAAGTGGCACTCACCCAAAATAACTCCGCAAAGCACAGGCACAACCCATCATGGTCACTGACCACAACCTACACAGCTCACACAGGTGCACACACAGAGACATACAGCAGGCACAGGGGACCACACACAACCTACACAGTTCACAATGGTGCACACACACAGACATAGAGCAGGCACAGGGGACCATACACCCACGTGCAGACACGAAGACACACAGCCACAGACAGGAGACCATATACTCACCTGCACACACACAGACACACAACCAGACAGGAGACCACACACCCACTCATTGGGCAAATGTATTTTGAGTGCCGCTATGTGACCCTGGCTCAGGCTACATCAGGCCACAAAGCACACCAAGGCTGGCAGTGGGACCTGTGACTGTCGCCTCGGAGGGCACAGAGGTGTCTCTGCAGCCCTGGCTCCCTGCTCGGGCTCCTGTGCCTTTCCCTTGATGGGTCCATCTGCTAGGACCCCTCCAATGAAGAACAGCACCGCCCACTGCCATGGGCTCACCAGAGCAGCCCTCGCCCTCCCCTCGTTCCCACACTCTGTTCCCTACAAGGGCATCTCACGTTGGTTTGGCTCCAGAATGAGTCTGTTGTGAATGTTCATGTATTTGAAAGGATGGAGATGTCTGGGCAAATAAAATCAGAGACACCTCCCCAGAGGGGGCAAACCTCAGAGCTTCAACACTTACCGCTGGGCAGAGGCCCAGGGCACAATCTCAAAGGGGTGCTGAGACACTCTGGGCTATCCACGATCTCCAGATGTGTTCCAACACACATGAAGAGTGCTACTGTCCAGGGCTGAACAGGGAAGTGGTAAGCCACTCGAGGGGGAA
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Task1_train_20491
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A mutation found in HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) on Chromosome 15 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Developmental delay with autism spectrum disorder and gait instability
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TGCAAAAGTAAATATTTTTATTTTTATGGTGAAAACTAAGCTGAAAACTTTGCAAAAACTTAAAGTGAATTGCTAAAAAACAGAATTGTTAGGCTGGGCATGGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTGTACTAAAAATACAGAAATTAGCCAGGCATGGTGGTGAATATCTATAATCCAGCTGAGGCATGAGAATTGCTTGACCCCGGGAGGTGGAGTTTGCGGCGAGCCGAGATTGCACCACTGCACACCAGCCTGGGTGACAGAGCAAAACTTTGTCTTACAAAAAAAAAAAAAAAAAACAAACAAAAACAAAAAAAAGTGAAATTACGTAAAGGTGAAAACTGTAAAAGATCAGGAAAAAGAAACCAGAGAAGATATCAGATTGCTCCACAAGTTCCCACACTCTATTTTATAATAACTAAAGATAGGCAAATATTTTCCTCAACGATCAGATGGTAAATATTTTTAGCCTCTGTGGGCTTTCTGTCCCAACTACCCAGCTGTGCCACTGTCACAGGAAAGCAGCCACAGACAGTACGTAAATGAGTGGCATGCCTGCATGCCAATACAACTCTACCTGCAAAAACAGGCCAACCCCAAGCAAAATGGAAACTGGAGATGACGCACTATTACATGGTCAATGAAAGCGGCACAGCAGACCTGAACACAGAGATCGGAGCATGCATTTCCATATGCTGTGCTGAAAATTATGCTGTTCACATAGCCCACCTGGCTATTTCCCACTGTCCCCCAAGGCCAGACTGCAGGGTAGGATACTTCTACTGTAACAGTCGCCTCAGAAAATATATAGCAGCACAGCAGGGACACTTCCCTACAAGATCTGCACCAAAGAAACACCAGTGTGAGGAAGACAATGTCTGCAGCCCTACTCAAGGCAGTTTACTCAACATATCATCGCAAACTTTAACTAAAGTAGCAACTACACATAAAGAATGCAAGGCTAATCTCCTAACACAGCTTAGACCTTACAAAACTTTTAACCGGGAAATATTTTAAGGTCTGCAACTCACTCAATAATAGATATTTTAAAATGACGAGATGTCAAACTGAAAGCTCCTTGACAGCAGGAGCCTTTCAGATGAGGCCATCTTTGCTCTAGGACTCACAAAAGCAGAAACAACACGGCTCTGACAAGGTCTGTCCCGTCAATGGCAGCAGGACCGACATACAGGGAAGTATCTAAAATGATTTTTCATCTTTCACCTAAGAAATGCCCAAAAGTCACTCAATTACCAATCTGCCATTCAACTTCTGCAGGAGAGAAAGCAAGCTGACAGGTACCCCTGCTGATTATAACGGAAAGACTCCACAACGCCAGAGACACACAAGATGCCAAGGACAGACCACCACAATACTGAAAGACGAGTCATTTCTAAAATATTAACATGACTTTAACCATCAAACCTCATCAGGTACCCTTGAAAAAAGGATGATCTCACTTAGGAACACAAACATAAAACCAAAATTCAAAGCAAGCAGATACCGTAGCATCAGACTACAGAACACAGAAAGACTTAGCAGGAATTACCACAGGGAATCAAGAGTGGCCGAACGTTAAGAAATGTAATAATACTAACCAGAGACAATTCAGAGTGTCAATCATCCCATTTCAACTCTCATTCTTAAAAAATAAAATGCCCACACAGGAACGGCGGCAGCTGCTAACCAGCTGAGAGGCCTCAGGCAAACAAGCCCAGTAACCACCCGGGCCTCTTCCCCAATGCCACTGAGCCCCACACCCACTGGGCGACAGGGTGGGTGGCCTCGTGAGGCCCACTGTACTCATCTCACTTCCTCCAGGGAAGCTGCCATGCGTGTCCTCGTGGGCCTGTCCAGGGTGGCGAGAGCTCTACGTACCGTTCTCAGTGACAGCCAGGGTTTGAGCATCCCCACTCCCACACGCCACATCGATGACCTTCAGTCCTTTAAGCCCGGCTACCAGCATCGGAATGGCCTCGTCCTCACTGGAGCCTTCAAACAGATAGGACGGCGGTTACTAAGTCCTGTAAGAGGCCACCTCCTGCTGCATGCTCCCACTCATGCAGAGCAGACGTACCATGGCCCAGCCGGCCGTAGTTCCCGCGGCCCCAGGTGTACAGCTCCCCCTCGGCAGTGATGGCCGCACTGTAAGTGCTCCCGCAAGCGATGTGCACCACGTGCTTCCCGGCCTGCTTTCCAGAGAAGGCGGAGATCACCTTAGGCTCCTCCAAAGGCCTTGGGGAGAAAGGGAACAAACATGAATGCCCTTCTTCTTGGTGTTATTTCTTATTAATGTTAACAAAGGAAATTCACTATCCAAATTTAGACCAGCATAGCATCAGGCCAGTTTCACCTTCCAGGTACCTTGTGAAAGAAGGAAGAGAGAATTCCAACACCTAACACCTCCATGACTTTTTGTTCAGTTGGAACCCGATGCCAAACATGGTACCCAGTAGAAATATAAAAATAGTGTTTGTTAAAGAATTGTACAATAGGCTAGGCGCGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAATTAGGTGGGCATAGTGGAGGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGGTGAGATCGCCCCATTGCACTCCACCTTGGGTAACAAGAACAAAACTCCATCTCAAAAAAAAAGAGACTTGTAAAGTCCACTGCAGCTTTATTCACAATGTCCCAAAACCATGGTCCATCTGCAACAGAAGGAATGAATTACCCATACACCCAACCCAACATGGCTGGATCTCAAGACATCTGCTAAGTCAAAGATGCCAGAAACAAAATACCATACACTGTATGGCTTTGTTATATTAAATTATGGAAAAGACAAAATAATAACAACAGAGGGCAGATCAGAGGTTGTCAGGAACTGGAGGTAGGAAGGGGGCATCAACTCAAAGGGTACAAAGAGGGCCCTGGAAGCGATGGGAGCGCCCCATGTCTTGATGGTGGTGACCCAACTGCGTGCACTTGTCAAAACCCATCCAACTCTACATCTGAAACTCAGTCATCTGGTTGTATGGAAGCCTCATAAAGCTGACCGACATTTATATGTATTTGTTAAATGAATGTGGATGGAATGAAGCCAGCACTCTGCAATCTATACTTTACAAATGAAAAGTATGAGGCAGTGGGGATTAGGGTAGAGAAGTCTTACTAGTTGAAGAAATTTCAAAGTTAGCAAAATACCCTATTCTTAGGATCCAGAATATGTTCCTATGATGGATGACATTTTCTTGAAAATCTACAGAAGCCAGGCCTCTCCTTTACTCACTTTGTGACCTACTAGTTTGCAAAATACACACAGTGGCACAGGTGCTCACAGGGACAGCCCAATGACTCTACTCCAGTACAAACTATCCCTTATTCAGCTTAAGTTTCAATTTCCCCAAAAGGTTATCTCCAGCTTCTGCCATCTGCACTCATCTCTCTTCCTTCCTTGAAGTCCTAGAATAAGGCGTAAGTTACTCATCCCAGCACTTACTCTCCACTGAGAATTGTTTTACTATGAAATATTTTATAGAAAGTCAGTTATAAATACCATAAAGGAAGTAAGCAGACATACCACCCTGTCCTGTACCTCGATGCCTTTCAAGTCCCGTGTACCCCATGTCAATCCCAGCCTTTACAATCCAGTGTGAGAGTAACAGCTATAAATTCCATGGAGATCAATCTTTTCTTTTTCACTCGTCTTAGATTTGTCTGAATCCCTTACAACACTGTCAGGGTTGGGCTGTTCTGAGCTTGGCATACATGTACCACACGATACGCATTACTCTGCTTTTCTCCCAGTTTGGGATCTTCCCAGCGGATGCTGTCGGCAATGATGCCCTCAACTCCACCCTGTGGTGTGCATGGGCCATGCCC
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TGCAAAAGTAAATATTTTTATTTTTATGGTGAAAACTAAGCTGAAAACTTTGCAAAAACTTAAAGTGAATTGCTAAAAAACAGAATTGTTAGGCTGGGCATGGTAGCTCACACCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGCGGATCACTTGAGCCCAGGAGTTCGAGACCAGCCTGGGCAACATGGCAAAACCCTGTCTGTACTAAAAATACAGAAATTAGCCAGGCATGGTGGTGAATATCTATAATCCAGCTGAGGCATGAGAATTGCTTGACCCCGGGAGGTGGAGTTTGCGGCGAGCCGAGATTGCACCACTGCACACCAGCCTGGGTGACAGAGCAAAACTTTGTCTTACAAAAAAAAAAAAAAAAAACAAACAAAAACAAAAAAAAGTGAAATTACGTAAAGGTGAAAACTGTAAAAGATCAGGAAAAAGAAACCAGAGAAGATATCAGATTGCTCCACAAGTTCCCACACTCTATTTTATAATAACTAAAGATAGGCAAATATTTTCCTCAACGATCAGATGGTAAATATTTTTAGCCTCTGTGGGCTTTCTGTCCCAACTACCCAGCTGTGCCACTGTCACAGGAAAGCAGCCACAGACAGTACGTAAATGAGTGGCATGCCTGCATGCCAATACAACTCTACCTGCAAAAACAGGCCAACCCCAAGCAAAATGGAAACTGGAGATGACGCACTATTACATGGTCAATGAAAGCGGCACAGCAGACCTGAACACAGAGATCGGAGCATGCATTTCCATATGCTGTGCTGAAAATTATGCTGTTCACATAGCCCACCTGGCTATTTCCCACTGTCCCCCAAGGCCAGACTGCAGGGTAGGATACTTCTACTGTAACAGTCGCCTCAGAAAATATATAGCAGCACAGCAGGGACACTTCCCTACAAGATCTGCACCAAAGAAACACCAGTGTGAGGAAGACAATGTCTGCAGCCCTACTCAAGGCAGTTTACTCAACATATCATCGCAAACTTTAACTAAAGTAGCAACTACACATAAAGAATGCAAGGCTAATCTCCTAACACAGCTTAGACCTTACAAAACTTTTAACCGGGAAATATTTTAAGGTCTGCAACTCACTCAATAATAGATATTTTAAAATGACGAGATGTCAAACTGAAAGCTCCTTGACAGCAGGAGCCTTTCAGATGAGGCCATCTTTGCTCTAGGACTCACAAAAGCAGAAACAACACGGCTCTGACAAGGTCTGTCCCGTCAATGGCAGCAGGACCGACATACAGGGAAGTATCTAAAATGATTTTTCATCTTTCACCTAAGAAATGCCCAAAAGTCACTCAATTACCAATCTGCCATTCAACTTCTGCAGGAGAGAAAGCAAGCTGACAGGTACCCCTGCTGATTATAACGGAAAGACTCCACAACGCCAGAGACACACAAGATGCCAAGGACAGACCACCACAATACTGAAAGACGAGTCATTTCTAAAATATTAACATGACTTTAACCATCAAACCTCATCAGGTACCCTTGAAAAAAGGATGATCTCACTTAGGAACACAAACATAAAACCAAAATTCAAAGCAAGCAGATACCGTAGCATCAGACTACAGAACACAGAAAGACTTAGCAGGAATTACCACAGGGAATCAAGAGTGGCCGAACGTTAAGAAATGTAATAATACTAACCAGAGACAATTCAGAGTGTCAATCATCCCATTTCAACTCTCATTCTTAAAAAATAAAATGCCCACACAGGAACGGCGGCAGCTGCTAACCAGCTGAGAGGCCTCAGGCAAACAAGCCCAGTAACCACCCGGGCCTCTTCCCCAATGCCACTGAGCCCCACACCCACTGGGCGACAGGGTGGGTGGCCTCGTGAGGCCCACTGTACTCATCTCACTTCCTCCAGGGAAGCTGCCATGCGTGTCCTCGTGGGCCTGTCCAGGGTGGCGAGAGCTCTACGTACCGTTCTCAGTGACAGCCAGGGTTTGAGCATCCCCACTCCCACACGCCACATCGATGACCTTCAGTCCTTTAAGCCCGGCTACCAGCATCAGAATGGCCTCGTCCTCACTGGAGCCTTCAAACAGATAGGACGGCGGTTACTAAGTCCTGTAAGAGGCCACCTCCTGCTGCATGCTCCCACTCATGCAGAGCAGACGTACCATGGCCCAGCCGGCCGTAGTTCCCGCGGCCCCAGGTGTACAGCTCCCCCTCGGCAGTGATGGCCGCACTGTAAGTGCTCCCGCAAGCGATGTGCACCACGTGCTTCCCGGCCTGCTTTCCAGAGAAGGCGGAGATCACCTTAGGCTCCTCCAAAGGCCTTGGGGAGAAAGGGAACAAACATGAATGCCCTTCTTCTTGGTGTTATTTCTTATTAATGTTAACAAAGGAAATTCACTATCCAAATTTAGACCAGCATAGCATCAGGCCAGTTTCACCTTCCAGGTACCTTGTGAAAGAAGGAAGAGAGAATTCCAACACCTAACACCTCCATGACTTTTTGTTCAGTTGGAACCCGATGCCAAACATGGTACCCAGTAGAAATATAAAAATAGTGTTTGTTAAAGAATTGTACAATAGGCTAGGCGCGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCTAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAATTAGGTGGGCATAGTGGAGGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGAGGAGGTTGCAGTGAGGTGAGATCGCCCCATTGCACTCCACCTTGGGTAACAAGAACAAAACTCCATCTCAAAAAAAAAGAGACTTGTAAAGTCCACTGCAGCTTTATTCACAATGTCCCAAAACCATGGTCCATCTGCAACAGAAGGAATGAATTACCCATACACCCAACCCAACATGGCTGGATCTCAAGACATCTGCTAAGTCAAAGATGCCAGAAACAAAATACCATACACTGTATGGCTTTGTTATATTAAATTATGGAAAAGACAAAATAATAACAACAGAGGGCAGATCAGAGGTTGTCAGGAACTGGAGGTAGGAAGGGGGCATCAACTCAAAGGGTACAAAGAGGGCCCTGGAAGCGATGGGAGCGCCCCATGTCTTGATGGTGGTGACCCAACTGCGTGCACTTGTCAAAACCCATCCAACTCTACATCTGAAACTCAGTCATCTGGTTGTATGGAAGCCTCATAAAGCTGACCGACATTTATATGTATTTGTTAAATGAATGTGGATGGAATGAAGCCAGCACTCTGCAATCTATACTTTACAAATGAAAAGTATGAGGCAGTGGGGATTAGGGTAGAGAAGTCTTACTAGTTGAAGAAATTTCAAAGTTAGCAAAATACCCTATTCTTAGGATCCAGAATATGTTCCTATGATGGATGACATTTTCTTGAAAATCTACAGAAGCCAGGCCTCTCCTTTACTCACTTTGTGACCTACTAGTTTGCAAAATACACACAGTGGCACAGGTGCTCACAGGGACAGCCCAATGACTCTACTCCAGTACAAACTATCCCTTATTCAGCTTAAGTTTCAATTTCCCCAAAAGGTTATCTCCAGCTTCTGCCATCTGCACTCATCTCTCTTCCTTCCTTGAAGTCCTAGAATAAGGCGTAAGTTACTCATCCCAGCACTTACTCTCCACTGAGAATTGTTTTACTATGAAATATTTTATAGAAAGTCAGTTATAAATACCATAAAGGAAGTAAGCAGACATACCACCCTGTCCTGTACCTCGATGCCTTTCAAGTCCCGTGTACCCCATGTCAATCCCAGCCTTTACAATCCAGTGTGAGAGTAACAGCTATAAATTCCATGGAGATCAATCTTTTCTTTTTCACTCGTCTTAGATTTGTCTGAATCCCTTACAACACTGTCAGGGTTGGGCTGTTCTGAGCTTGGCATACATGTACCACACGATACGCATTACTCTGCTTTTCTCCCAGTTTGGGATCTTCCCAGCGGATGCTGTCGGCAATGATGCCCTCAACTCCACCCTGTGGTGTGCATGGGCCATGCCC
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Task1_train_20492
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This variant lies on Chromosome 15 and affects the gene ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Lung damage, immunodeficiency and chromosome breakage syndrome
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TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAGAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGGGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACAT
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TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAAAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGGGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACAT
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Task1_train_20493
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The gene ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component), on Chromosome 15, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Lung disease, immunodeficiency, and chromosome breakage syndrome;
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TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAGAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGGGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACAT
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TGCTAACACCTCTGAGAAAAGCGGGGGGAATTTTGCCTCAGATATAACTGGTGGTGACTGCTGGGTAATAATTTTTATTATACAGGTGAGAATGCGAGTATCAGAGGGCATGAGGAGGAGAAAGCTGAGTCAGGGAGGTAAGGGGACCAGGAGGCAGGAAGGAGTTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAAAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGGGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACAT
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Task1_train_20494
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A sequence alteration has been identified in ENTREP2, NSMCE3 (endosomal transmembrane epsin interactor 2| NSE3 homolog, SMC5-SMC6 complex component) on Chromosome 15. Is it disease-inducing or harmless?
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Pathogenic; Lung damage, immunodeficiency and chromosome breakage syndrome
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TTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAGAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGGGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACATTATCTGAGTAATAGCATCAAACACAACCTTATTAAAATTTTGTTAATTGTTAGTAGCATAACACTTTTGTTTGTAATTCAGTAGGAAAATGCAATCTGATAATGGCACTGGAACTGCAATAGTAAATGTAAAATCATATTCCATGAACTAATGCAAGTATGCTA
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TTTATACACTGAAATAAAATGCAGATCAAGAAGAAATGCCTGTAAGGGCCAAACATATTCCACTGATGAAACAAATGCAAATCCCAATTCAACAGAATGAAATAAAACCCAGTAACCTATCACATTCCTCCATACTCACTATAGACTCTTTTAAATGACATTCCGTCCAGTGTTGATGAAGTTCACTTTTTTCCCCGAGTTAAAAATATTTGCCTTATTTCAAGGTTAATTTGCAGCACCTCCCCCTAAAACAATTAACTTATTTGCCCACTGAATAAAACGTGTTGAATCTCTGCATTAAAAACAGCATCTGCTACACGTAATGGAGGAACACAATGGGACTATGAACTCTTCTAGTTCATTTAGTGCATAAAACTATTATATAGCTATTATTTTTCTCATTTTACAGATAAATTGAGATTCAGAGAGCTTAAAACCTACCCCCACAACCACCATGCTGACAAGTTAGCATGAGCCGTAATTCAAATTCAGTTTGCCAGACAGCCCCAAGACCCATACCCTTTTCCCTATACCTAACTCCCTAGGAGGTAGATCTTATGTCCTGCTCTTATGTTCTATGTGGGGCACACTCACCATACACGTTATATTTCCCCATACAATAGAGTGAGACTAGAGGACTATCTTTTGAACCAGGAATTGCTCTCCTAGGAATGATTTGGAAAAAAAGATAAAGAAAAGTTATATTTAAAAAGTGGCAGCTCCAGACCAAGGAGAATAAAAAATAAAAACATTAAAGAATAACAAATAAAATTCTCCACATCACGGACTAAAACCATTTTACAGGTCAAGAAACATCTGCATACAAACTAAGGAACCTATGTAAATTCATATACTAGTTATGGTGGGGCCAGGATCTCAACCCAGACAGTCCGATTCCCAAACAGGCATGGTTAATGGTTACGCTATTGTTTTATAAGCCTTTTTGAGATCCACAGTGAGAAATATATTTCACCTCATGATCCTGATTTTGTTTCACACAAAAGTGAAACAACTTCTACAAAACAGCATTGACCTTAATATGTAGCAAAAACTTTAAGATGTTGATTTCCAGTCATGAAATTCTCTCATGACCCACGATTTAAAAAACACACAATGCTTAAGTGCTTCAAAAATACAGTATTTATTGTAATAACTACAGTAGCAAGAAGAAAAAAACGAAGTGGAACTACGTGTTTAGCAGCAGAGCTGAATAATTATGAATATAAACAATTACTATTGGGAGAAAATACATTACACTCATTGCTTGGAACCATGAATAATACTTATATATGTACGAAATATAGAAAAATAAAATAGGTTAACATAATAAGGATATAGGCAATTATTTTTTTTAATTTTATAAAAACTTTTATTTTTCCTTACAAACTGGGGTAGTTAGGAGACCTGATAATAGCTTTTTTATTTTCTTGGCACCAAAGCAACTTACTTATGTGTTCCTTCTTGCATTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAAAAAGAGTAAAATCAAAACAAATGCTCCTTTGTTTATAGATGAAAATCTGGAGCAAAATAACACAACATTAAAAAAACAAAACTTTGCAAACACATCCTAAAGCTACACACATTGAAGCGTTTACAGCAATATGCTCCCTGGGTTCGTTCTCCCTTCCCCCAATCCTCTAAACTGTGCCTTTGGGTCTCAGACCCTTGTCCCGGGGGTCCCTCTGAATCCACCTTTCAAGAGGATGGAGCTGGGCCACTAGGCTGAGGTCTGGCCCTGTTCTCCTCATCTGCCAAAGCCTCACAGTACTGCGCTGGCCAGTCCTTGGGGTCTTGATTATGGACCTTGGCCACAAACTTAAGAACTTTCATCTTGCTGGTTTCCAGGTTGGTTCGCGGGCCCCACTGGAATTCGTAGTCGACGGGGTCGGTGTGGGGTATCCGCCGGTATTCCAGGTAACGCTGTCGCACAAAGTCCTCAGTAATGAGTTTCTTTGGATCTCCGAAAATTAAATGCTTCTTGGTGAGGTAGACCCCTAAGCGCCGCAGAAAGTCCCAGGCTTCAGTTTCCTTGATGGTGTTGCCCTTCATAAAGATGAGCCCTAAGACGATCATCAGGAGGCCCGTAGTGGGCGTGCCTTGGTCACCCCTCATCTCGGCATCCTCCTCCACAGGCTCCAGGGTGTTGATGAGGATGTAAGTGTTGCTCTTGGGTTCAAGTTCCACCAGCTTATACCCGAAGACGTACTGGAGGCGCTCGGCGGCCCGTTTGAAGAGGTCGGGGAAGATGTCCTTGTAGTCCCCGATGACGTGCTTCAGTATGTCGGCCCGCTTGATCGGAATCTTCTTCTGGTCTTTAATCAGCAAGAACTGCACCAGCTCGGACACTTTCAGCTCCAGCTGCTTCTGGCTCCTGGGCCCCACGGCGGGGGCGGCCTGGGCCCGGCGGGCGCCCTGAGGCGAGGGGCCCTGCGACCCCTGCGAGCCGCCCGGCCCGCGGGACGTGCTCGGGGCCTCCTCGGCAAAGCCGTCTCTGAGAACCCGGGCGTCTTCCCCGGCCCGCGAAGCCCCGGGGTTTCCGCTATGGCTCCAGTCTCTGTCCCTCTCGGCCTGGCCGCCAGAGCGGCCCCGGTTCCTCGGTTTTTGCAACATGTCTCCGGCGGCAGGTGCCGGCGCACACTCCGGTAGGCAAGCAGCCGCGGCGGGGATTGCGGGTCGGCGACCCGCTAACGCCGGTGCCTGGAGGCGCGCGCAGTGTCGGCTGAGACTGCGTGCTGCGTCATGAAGCCTGCGCCTTGCGTCAGGGCGGCTGGGCGGTGCGCCTGCGCGGCTGCGGCGGGTACCAAAAGGAACAGCGTTTTCCGTGCAGCCCTGCAGGTCCGGGCGATGATTTTTAGTATAGTGAAGTGTTGTTACCAAACCATGCAAACAGAGAGCGAGAACCGAAACTCCTAAACAAGTGTGTCGCTAAATTCAGACCACACAGGCTCAGGCAAGTTTTACAGACAGTATTATGAGTTTCTAAATCGGGAGCATTTGTAAACGGAAAGAATTCAGAGGATGAACGTGTGAGAAAAAAAAAAGGTGAAGAGGAAGGGCCGACCGTGGAAGTAAAGTAAAAACATTTATTTCTACACAAAATGTAGAAGGACATAAAAGACCCAGAGGGCTCTTAGTTTTCGTCCCTCCACCCAATTTCATACCCTCCATCCCACTGCCCCCAGTTACTTTCTCTAATGCCCCGTGGAGTCTGTTAAAAACCAAAGTCGGCTGCAGGCTTTCTGCGCAAGCAGGACTTCAGTTTCACTATTTCCGTATTTATATTCTCTGCATTAAACTCCTTTAGCTAGACAACTATGAGAAGACCACAAAAAACGTGTCAGTATTAGGTAAATGTTTTAGCTTGGTCACATGGGTTTATCTTTTGGAAAACAACTGCTTTCGTCACAACCACAATTTTAGCAGAAATGGGTAAGAGGAATGCTGCAAACAAACGTGCACTCTCAAGAGATTACTACTTAATTTGGGGCATCACTGATCAAGAATTGCAATAATGTGGAGCTCTTAAATTTCTTAATTCATAATATATTAGCTTTGAGGAAAAAAAAGAGAACACTGGGGGATTTATCTCTCATCTATGATGTGATATACAGTCTCTACTGTATATTTTAATTGTGCAACTCAAGTAGCCAAAATGAGTCATTTCATTAACTCAAACCATCAGCAGTCTGCTGCCATGACTTCTACAGATCTTAGCAAATTTGTTTCTTCTCTATTTACTTGCAAAGAAGAAACTGAATTTCCCTGTGTCTTTTTAAAGCTACCCAGAAAGTGGATAAACTCTTCAAAGAACCAAATTGAGTTCCTCTTTAATGCAAATATATTCAAAGGAAAGCAATTTAGAACACATTATCTGAGTAATAGCATCAAACACAACCTTATTAAAATTTTGTTAATTGTTAGTAGCATAACACTTTTGTTTGTAATTCAGTAGGAAAATGCAATCTGATAATGGCACTGGAACTGCAATAGTAAATGTAAAATCATATTCCATGAACTAATGCAAGTATGCTA
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Task1_train_20495
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Consider a variant on Chromosome 15 in gene FAN1, MTMR10 (FANCD2 and FANCI associated nuclease 1| myotubularin related protein 10). Determine its clinical classification and disease relevance.
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Pathogenic; Karyomegalic interstitial nephritis
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GTGTGTGTGTGTGTGTGTGTGTGTGACCTTGTCTTAGGGATTCATGGCGAAGGGTCCACCTTCAGCACCCTGTATGGCCTCCTCCTGTGGGACATCATCTTCATGGATGGGATTCCGGATGTCTTCAGAAACGCCTGTCAGGTACTCCAGTGCCCCTGCCCCACGAGTAGGTCCTTCTGCACACATCCGTGGCTCACGCCCACCTGGGCACCGTGTGTCCACAGCCAGCAGAAACCATCTCTGTTACGGTCCTTTGGGTCATCCACAGGTCAAGATGATAACTTATTTTAAAAATCTGAGTAATAGAATTTAAGATGTAAGTATGTGAAGTTTTAAACTTTAATTTAGCCTCCACCTTACATTTAGACCTTTCGTATAAAGTACCATCAGCATCAGCCCTCCCGAGCACCTGCCGTGTCGCAGGCACTGTGCCAAGGAGCTCACAGACATGGGCACATCTGCCTGTTCAGAGGTCCACCCAGCTAAGCGAAAAGCTGTTTTTGCAAATTATTACTCTAAAAAACAAGTTTAATAAATTGCTTTTATATCAATTAACTTTTACTTATCTTTTGAGAGAAAGAATGTATCGGTTGGCCGGTTTCCAAGTTTTGTATGTACTGACTAGTCCTCTGGTGAACACGGCTCTCTGCAGGCACAGTATGACAGCTTGCTTTCCCTGTGACACAGGCATTCCCCCTGGACTTGTGCACAGACAGCTTCTTCACAAGCAGACGCCCAGCCCTTGAGGCCAGGCTGCAGCTGATTCATGATGCCCCCGAGGAGAGCCTGCGGGCCTGGGTGGCAGCCACGTGGCATGAGCAGGAAGGCAGAGTGGCTTCCCTTGTCAGCTGGGATCGCTTCACGTCTCTTCAGCAAGCTCAGGTAATGGTTCACCTGCATGGCAGGATTTGCTCAGAAAGTTAACACCGCCCCAGTGCTGTCTTTTCAGCAACTTTATCAAAATACACATGTGTGTATATGTAAATACATGTATGTGTGTGCATATATATGATATATAGTATATATCATATATAAAATATATATTATATCTTTATTATATTTATTATATTATATATTATATATTACATATTACATATATAATATATATTATATATTATACAATATACAATATATAATATAATATATGAAATATATAATATATCATATAATATATATAAAATATATATTATATCATATATAATATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATATCATATATAATATATATAAAATATATAATATATATCATATATAATATATAAAATATATAATATATATCATATATAATATATAAAATATATAATATAATATATATCATATAATATATAAAATATATAATATATAAGATATCATATATAATATAATGTATAAAATATATAATAATATATATATTAATATTATATAAATTATATATATGAGAATACCCTATCCCCCTGGCCCCAATGCCACTGTTAGTGATGGAAACATACTAGGGTGTTAGAAAAGCCCCAGCTGTGCCTTTGCCACCCCTGAGTTGACAGCTTTCTTTTGCTTGCCCTGTGGCTGAGGCAGGGAGGATACCTTCTGTGTTCCTTCAACTGCTGCCCTCTATGAGGCCATGCTGTCGCGTTCCTGAGTGCATCCTCCACATCCCTCTTCCTCAGCGCTCCCCAGCATGGCCACGCTGGCAGAAGCCTGGAAACTGACCACAGGAGGACCAGTCTCCCACCACTTGCCAGTGGGATTCCAGCCATGGCTCTGCAGCTCTGGTACAAGCAGCAGAACAGCGCATGGTGGGCCTGGGGTCCATGTGCACTGAATTACATATACACTGAGCTTTTCTCCGTCTCGTGATCCCTGGAGCCTATTTCCATTCTCTGTCACGAGGGAAGTGGCTAACTGTCCTGTGTTTTGTGTTCAGGATCTTGTCTCCTGCCTGGGGGGCCCTGTGCTCAGTGGTGTGTGCAGGCACCTGGCTGCTGACTTTCGACACTGTCGAGGGGGCCTCCCCGACCTGGTGGTGTGGAACTCCCAGAGCCGTCACTTTAAGGTCAGTTGAGGCAGAATGGAAAGTCCTGTTGGTAACCTTATTAGCAACTGAATCAGAGGCCACAAGTAGGCATTTCTTGAGTGGCTGTTGGCAAGATTGAATTCCTTGAGAGCTTTTGGGCCGAGGGCCTGGGTTCCTGTGGGCCTGTCCCCTGCGACTGGCTTCATCAGAGCAGGCGGGTGAGAGGAGCCCCAGAGTGTGAGCAAGACAGAGCTCCATCTCTTATGACTTGATGTGGACATGATGTTCCATCACTCCTGCTGTATTCTGTGGTTAGGAACGAGTCTCTAGTCCAGCTGACACTCAAAGGGAGGGGGTCACAACGGGTGTGGACACCAGGAGCTATTTTAGAAGCTTACCGATAATTGTACATTTTAAAATGACTTAAAGAGTATAATGGTTTGTAACTCAAAGGATAAATGCTTGAGGGGACAGATACCCCATTCCCCTTGATGTGCTTAGTTCACATTGCATGCCTGTATCAAAACATCTCATGTACCCCATAAATATATACATCTACTATGTACCCACAAAAAATTTTTTAAAAAGCTCAGAGAGTGAACACTTCCTTGAACGCTGTCCACTAGCCCAGCCCTGCTGCCCATCACTGGTGATTTGTTTTCTCATTATTGAGTTTTGAGATTAAAAAATTATATATCCTGGATACAAGTCCTTTATCAGTGACATTTCATCCCAGTCTATGGCTTGTCTTTTCATTTTCTTAATAGTGTCTTTTGAAGAGCAGAGGTTTCAAAGTTTGACAAAATCCAACTTATTTGTTCTCTAGTGGATCATGCTTTTGGTGTCACATGTCAGAAATACTTGCCTAATCCAAGGTCACAAAGAGTTTCTCCTTTGTTTTCTTCTAGAAGTGTTATAGTTTTAGGTTTTACATTCAGTTTTATGATCATTTGAGACGCCATTTGTATACAGTGTGGGGCATGCACTGGAATTCATTTGTGGTGTGTGGATATCCACTTGTTCCAGCTCCATGTGTCAAGAAGACCATGCTTCCTCCACTGAATTCCCTCTGTATCTTTGTCAAAAATCAGTAACCCATATATATGTGGGTCTGTTTCTATATACTCTTCGGTTCCATTGATCTGTTTGTCTGTATTTCTTGATTATTGTAGCTTTAGATACATCTTGGAGTCAGGTAGTGTAAGTCCTATAATGACTTGTTTTTCAAAGTTGTTCTGGCTCTTTTGCATTTTTATTTGAATTATAACATCAAATTTTAAGTTTCCAAGAAAAAAAAAAGCCAGCTGAGGCCGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACAGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGCCAGCTGAGATTTTAATTGGAATTCCTTTGAATCTGTAGACCAATCTGAGAGGAATTGGTATCTTAACAGCATTATTTTGATCAGCAAAAATGGGAGTTGATTTTGTAAAATATTAAGAATTTTTGCATATATGTTCATGAAGGATATTGAGCTGTACTTTTCTTTTCTTATTATCTCTTTGTTGGGTTTTGGTTTCAGAGTCATACCAGCATCAGAGTGGGATGGAATAGTTGGTGTAGAATTAGTATTATTCCCTAAACATTTGATAGAATTCCCCAGTGAAGCAGTATGGGCCTGGAGATTTTGGGGGGAGGAAAATTTAAAGCTATAAATTAAATTTATTTTTAAACAACATAAGGCTGTTCAT
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GTGTGTGTGTGTGTGTGTGTGTGTGACCTTGTCTTAGGGATTCATGGCGAAGGGTCCACCTTCAGCACCCTGTATGGCCTCCTCCTGTGGGACATCATCTTCATGGATGGGATTCCGGATGTCTTCAGAAACGCCTGTCAGGTACTCCAGTGCCCCTGCCCCACGAGTAGGTCCTTCTGCACACATCCGTGGCTCACGCCCACCTGGGCACCGTGTGTCCACAGCCAGCAGAAACCATCTCTGTTACGGTCCTTTGGGTCATCCACAGGTCAAGATGATAACTTATTTTAAAAATCTGAGTAATAGAATTTAAGATGTAAGTATGTGAAGTTTTAAACTTTAATTTAGCCTCCACCTTACATTTAGACCTTTCGTATAAAGTACCATCAGCATCAGCCCTCCCGAGCACCTGCCGTGTCGCAGGCACTGTGCCAAGGAGCTCACAGACATGGGCACATCTGCCTGTTCAGAGGTCCACCCAGCTAAGCGAAAAGCTGTTTTTGCAAATTATTACTCTAAAAAACAAGTTTAATAAATTGCTTTTATATCAATTAACTTTTACTTATCTTTTGAGAGAAAGAATGTATCGGTTGGCCGGTTTCCAAGTTTTGTATGTACTGACTAGTCCTCTGGTGAACACGGCTCTCTGCAGGCACAGTATGACAGCTTGCTTTCCCTGTGACACAGGCATTCCCCCTGGACTTGTGCACAGACAGCTTCTTCACAAGCAGACGCCCAGCCCTTGAGGCCAGGCTGCAGCTGATTCATGATGCCCCCGAGGAGAGCCTGCGGGCCTGGGTGGCAGCCACGTGGCATGAGCAGGAAGGCAGAGTGGCTTCCCTTGTCAGCTGGGATCGCTTCACGTCTCTTCAGCAAGCTCAGGTAATGGTTCACCTGCATGGCAGGATTTGCTCAGAAAGTTAACACCGCCCCAGTGCTGTCTTTTCAGCAACTTTATCAAAATACACATGTGTGTATATGTAAATACATGTATGTGTGTGCATATATATGATATATAGTATATATCATATATAAAATATATATTATATCTTTATTATATTTATTATATTATATATTATATATTACATATTACATATATAATATATATTATATATTATACAATATACAATATATAATATAATATATGAAATATATAATATATCATATAATATATATAAAATATATATTATATCATATATAATATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATAATATATTATATCATATATAATATAATATATAAAATATATATCATATATAATATATATAAAATATATAATATATATCATATATAATATATAAAATATATAATATATATCATATATAATATATAAAATATATAATATAATATATATCATATAATATATAAAATATATAATATATAAGATATCATATATAATATAATGTATAAAATATATAATAATATATATATTAATATTATATAAATTATATATATGAGAATACCCTATCCCCCTGGCCCCAATGCCACTGTTAGTGATGGAAACATACTAGGGTGTTAGAAAAGCCCCAGCTGTGCCTTTGCCACCCCTGAGTTGACAGCTTTCTTTTGCTTGCCCTGTGGCTGAGGCAGGGAGGATACCTTCTGTGTTCCTTCAACTGCTGCCCTCTATGAGGCCATGCTGTCGCGTTCCTGAGTGCATCCTCCACATCCCTCTTCCTCAGCGCTCCCCAGCATGGCCACGCTGGCAGAAGCCTGGAAACTGACCACAGGAGGACCAGTCTCCCACCACTTGCCAGTGGGATTCCAGCCATGGCTCTGCAGCTCTGGTACAAGCAGCAGAACAGCGCATGGTGGGCCTGGGGTCCATGTGCACTGAATTACATATACACTGAGCTTTTCTCCGTCTCGTGATCCCTGGAGCCTATTTCCATTCTCTGTCACGAGGGAAGTGGCTAACTGTCCTGTGTTTTGTGTTCAGGATCTTGTCTCCTGCCTGGGGCGCCCTGTGCTCAGTGGTGTGTGCAGGCACCTGGCTGCTGACTTTCGACACTGTCGAGGGGGCCTCCCCGACCTGGTGGTGTGGAACTCCCAGAGCCGTCACTTTAAGGTCAGTTGAGGCAGAATGGAAAGTCCTGTTGGTAACCTTATTAGCAACTGAATCAGAGGCCACAAGTAGGCATTTCTTGAGTGGCTGTTGGCAAGATTGAATTCCTTGAGAGCTTTTGGGCCGAGGGCCTGGGTTCCTGTGGGCCTGTCCCCTGCGACTGGCTTCATCAGAGCAGGCGGGTGAGAGGAGCCCCAGAGTGTGAGCAAGACAGAGCTCCATCTCTTATGACTTGATGTGGACATGATGTTCCATCACTCCTGCTGTATTCTGTGGTTAGGAACGAGTCTCTAGTCCAGCTGACACTCAAAGGGAGGGGGTCACAACGGGTGTGGACACCAGGAGCTATTTTAGAAGCTTACCGATAATTGTACATTTTAAAATGACTTAAAGAGTATAATGGTTTGTAACTCAAAGGATAAATGCTTGAGGGGACAGATACCCCATTCCCCTTGATGTGCTTAGTTCACATTGCATGCCTGTATCAAAACATCTCATGTACCCCATAAATATATACATCTACTATGTACCCACAAAAAATTTTTTAAAAAGCTCAGAGAGTGAACACTTCCTTGAACGCTGTCCACTAGCCCAGCCCTGCTGCCCATCACTGGTGATTTGTTTTCTCATTATTGAGTTTTGAGATTAAAAAATTATATATCCTGGATACAAGTCCTTTATCAGTGACATTTCATCCCAGTCTATGGCTTGTCTTTTCATTTTCTTAATAGTGTCTTTTGAAGAGCAGAGGTTTCAAAGTTTGACAAAATCCAACTTATTTGTTCTCTAGTGGATCATGCTTTTGGTGTCACATGTCAGAAATACTTGCCTAATCCAAGGTCACAAAGAGTTTCTCCTTTGTTTTCTTCTAGAAGTGTTATAGTTTTAGGTTTTACATTCAGTTTTATGATCATTTGAGACGCCATTTGTATACAGTGTGGGGCATGCACTGGAATTCATTTGTGGTGTGTGGATATCCACTTGTTCCAGCTCCATGTGTCAAGAAGACCATGCTTCCTCCACTGAATTCCCTCTGTATCTTTGTCAAAAATCAGTAACCCATATATATGTGGGTCTGTTTCTATATACTCTTCGGTTCCATTGATCTGTTTGTCTGTATTTCTTGATTATTGTAGCTTTAGATACATCTTGGAGTCAGGTAGTGTAAGTCCTATAATGACTTGTTTTTCAAAGTTGTTCTGGCTCTTTTGCATTTTTATTTGAATTATAACATCAAATTTTAAGTTTCCAAGAAAAAAAAAAGCCAGCTGAGGCCGGGTACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACAGAGGTGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAGCCAGCTGAGATTTTAATTGGAATTCCTTTGAATCTGTAGACCAATCTGAGAGGAATTGGTATCTTAACAGCATTATTTTGATCAGCAAAAATGGGAGTTGATTTTGTAAAATATTAAGAATTTTTGCATATATGTTCATGAAGGATATTGAGCTGTACTTTTCTTTTCTTATTATCTCTTTGTTGGGTTTTGGTTTCAGAGTCATACCAGCATCAGAGTGGGATGGAATAGTTGGTGTAGAATTAGTATTATTCCCTAAACATTTGATAGAATTCCCCAGTGAAGCAGTATGGGCCTGGAGATTTTGGGGGGAGGAAAATTTAAAGCTATAAATTAAATTTATTTTTAAACAACATAAGGCTGTTCAT
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Task1_train_20496
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A sequence alteration has been identified in OTUD7A (OTU deubiquitinase 7A) on Chromosome 15. Is it disease-inducing or harmless?
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Pathogenic; Neurodevelopmental disorder with hypotonia and seizures
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GGACTCGGGAGGCGTGCAGAGGAAGAGAGCAGTTTTCCACAGTCGACTGAGTCTTCAGAATGCTTGTCCTCAAATGTCCTGCCAAGATAGACTGTTGGTATGGACATAACATAGCCTTAAAACACAGTGACAAGACAGCCCTGGAGGAAGGGTGTGCCAGCGTATGTGGGTTTCTAATGATTTCATCTTCAAACATGGTCTTGGACGCCACTGCTGCAGCTGCAGCTCTGTGGGAGCCTCTTTTCCAGCCGGGGCCTCCAGGGAGAGCTGGCCCATGAGGCACTAGGCCCTGCCTTGGTGGGTGGGTGAGGACCCAGTTGCCCGCTGCAGGGCCCATGAGCCTGAGGGCAGCCTGGAGCTGCATGCAATCCTCCTTCCATGGGTCTCCCTGGTGTTACTGCTCACACTTTCTCATGTTTGGCTGAGACCTTCTCTAGGAGCAACACCTTTGCTTTCAGGTTCCAGAGAATATGAACTGAAGAATAAGCCGCGGCCAAGGCTCTATGGCTGCCCCACTGGTCTGGCCACGGTCTTCATTCCATACTAGAACATCCAAGGTGTTTCTGTAGGAACAAGCTATTCCTAAACATGCACAGATGTGAAGTCTTTTTGCTGGGAACACATATAATATCCATGGAGCCCATCTGGGAAACACCAGGCTAGCTTAATGAGCTTCTGCTTTCAGGGCAACTTCTTGAAGCCACAAATTAATTAGTTGGGGGAGAAAACCCAAACTTCAGAGCCAGGTTCGTGCGATGGCAATGTGTGGGAATGCTCACCATCACGTGTGACCTCCAGAGGCCTGCTGTGCCCTGAAGGCGCACACCCCAACTGTTGTGCACAATAAAGTTCAAGGAAAGTGGCCTGGAGGCAGCTCATGTGAGCTCACCTCTGCCTGCATAGTGCATGTGGGGGCTGCATACCCTTCCACTAGCACCTGGCGGGGCCAGCCATCACCCACGGTCCTCCCGTGCGTCCTTGTCTTGAAGCTAATGCTGGAAAGCTGGAATCTTTCTGTCTTCCACAGCACAAGAGTCCCACATTCCCCCCCGTGCCATCCCCCCATGCTGTGTGTAGCCCTGGGTGGCCTGGAGCTGGAGGTGACTTCTGGGGAGAGCAGGGGCAGCACTTACCCCCCGCCCGTGCCGCCATTCTTGCTGAAGTGTGTGCGCGGCTCGCTGGAGGCCAGCTTCAGCAGCTCCGTCCACTCCCGCTCCCACTCCTCCTCTGTGTACACCAGCCCTGACTGGCAGAGGGGAGCCGGCTCAGAAGGGGGGTGGGCCACAGCTGCGCTGCCCTCCTCTCCTCACCCTCCCAATCTGGACCAGCCTCACCGGGACCCAGGCCAGGCACATCTGTAGGTAGCTACCAACTATACCAACTGCACCCTCTTGGCCACCTTTGCTATGCACAATATATTTTCAGAAGCCCCAAGCTCTAATTCCAGAGCTGCTGGGAATCTGCCCACCAACAAGGGTCATTCTCAGGGGCTGGGGATGACCGAGCATTAACCTGTGCCTGCACCTAACTGGGGCTGGCCGTTCAGATTCTTCTAGGAGAGCAAGGTCCTCATGTTTACCATGGTTGGGGACAATCGGGAATCCCTTTGGACTGAGCTCACACACAGGGGCTGGGGCCATGGGCTGCACCTGACAGCAGGCAGTCATATATATAATTCATCATCCAAGCCAGGATGCTTTTGGGAATGAAGGTAGGCAGCTTTCATGATTATGCCTTAAGGAAGCACAAGTGGACGCATAGTTGCTGTCTGCCGGGACTCTGCTATTTTAACAGGCTCCTCCTCTGTGGGCTTAAAAGCAGGAGACTTTCCTGATCCCAGGGGCTGTTTCTGCCTTCCCCTCATAAGACTGTCTGGGGCCTGGAGGCCATGCTGTGGACTCGACCACGGCCCGAGGCTGCATCTGGCCTGGGTCCCGGGCTCTGGCCATGCCAGTGGATACCAACCTCCTTATTCTGCTGCGTCTGCTGCCACCTCCACCTCCGCTTCAGGGCTTCCCTCTCAGCTCCCGTCCTCATCATGGTATAGAGAGCTTTCCGTAACACCAGGTCCCGGTCGTGAAACCCCCACATTCCTGGAGCCAGGAGGCCAGGGAGAACAGAGGAGAGAAAGGACATGAGAAAAGACAAGCCAGAGGTGATGCAAACTACCACGACCCACTGGGAGAGCCTCCTGTCTGCACGCAGAACAGCCTCCTTACTCAGCGGTTCTGTTAATTCCCCTCCAGCCTTCTTCCTGAGGCTTCCCATTAAGGCAACTAGGTGAATGAAGCAGCACATCCTGTTCTTAGCAAAACAATAGTGGGTGAAAATCAAGTGCTTTTCCTCTCTGGTGCCCTTGGCAACCCATTCTCAATGTTGCTGGTTTGCTTTGAGGACCTAATGGTCATTATTCAAGTCTTACATTTGGGTGGGGGACTGACTAGGGGACAGGGACAGGCTGTCCAGTGTCCTTATGGAGGGCTCCAGGTGAGGGAGGCCATTAGCATCCTGGCTTCTCCAGGGTCTGCCATTTCCCTCCTCTCCAGCCCTGAGGCATCTCAGCTTCCTGAGAAGCAGAGCGTCAGTGACACCACTGCACACACCTGGCCCAGGAGAGAGCGCCTGCTTCCTAGTGAGAGGGTCTCACCCTGTGCCAGGTGCTGAGAGGATATAGAGAGAAACCAGCCATCTCTGAGAATGTGCTCTGGGCAGCTTAGATGTGATCAAGAACCCCAACTCATGGGAGAAGTGCTCAAGAGAAGGGCAGCTCTGGCTACAAGGGAAAACACAGGGGAATCCATCCATCCATCCGTCCATCCAGCCATCCACCCACCCACGCACCCACTCACTCATTCTAGGTGCTGGGAATATATGTGGCAGTGGCCGGGACACATGAAGTTCCTAAAATCTCATGGAGCACATGTTGTGGGGAAGTGGGAAGTGAGGATAGCCACGAGGCTGGCACAGAGTGTACGATGTTGAGGGTGGCAGCCCCACGAGGAGAGGTGAGGCAGGCAGATCTGCTGTGGCGTGAATGGAGACATAGGAGCAAAGGCTCAAATGGGTGGAGGAAGGAGCCAAGTTGCTGTCCCAGCACAGGGAAAGGCCAGGGACAGACCCAGAGGGGGCAGTACTTGAGAAAAGGCAAGAGGGAAAGGTGGCTAAAGTGGGATCGAGGAGAGAGGGAGAGTGAAAAGGGGGCTCTCGAGGGAACTGTGAGCCTCTGGAGAGTCTACAGAAGGAGAGTAATGTGAACTGATGTTTTCAAAGGCTCAACTGGCTGGGCATCTTTGGATATGCAATAGCCCAGGCCTGCCACAGGCTTCTAGCCAGCAAGGCTTCGCCTTTTTCTATAGGATGGCAGGGGAGGGGGAATGACCACTGTCACTCCTCGCTCATCCTCAGACCTCTTTCAGCTGCCTTCTGGGACTCTCCCACAGCTCCTTGGGCAGGTCTCTCTTGCAGAGATGGCCTCCTTGTCCTGCATATATCTGCCTACAGGCCTGACTCCAAGATGACTGTCATTTCTATATGTGCCCCACAATCCTAGCTCAACGTCAGGCCAGGCCAACAGGGGTTCCACAAGGACTGCTGGTGAATGTCATGTGGCAGCTTTGGGCAGCCCCAGTCCTGCGGAGTTTAGCTATATGGGCACAAAATGAAACAAAGTGCTGGGATAAGAGGACAGATTGCTATGAGCTCTGGGCTTATTGTTGTACAGGGGATTCTTGGAGGGGGGTCTCACAGCCCTGGTCAGTCATGGCCCAGGCTCTCTTGCAGATGGAAATGACCAGCCTGAGGGAGGCTCTCTCTTCCCAGGCAGGCCTGGGAGGCCCACTGTGCTCACAGGGAAAATGCTGTGGGGTGTGGCCTTGCCCCGCTGTTGTGCTGATGGGGACAATGACTCTACATGCTGCAGTTGCTGAGGGACAAAAACATTTCCATGCCCCAGACTTCACAATGAGGCTGCTGTTTGACACAGATGAGAGATTTATTCTTTTAGATTCTTTCTCCAGGTTTTAGAAAGAACAAGGCAAAATATGCTCAATAACAGGGGAATAGTTAATGTTATCCACTATGATAAAATAAGACCCAA
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GGACTCGGGAGGCGTGCAGAGGAAGAGAGCAGTTTTCCACAGTCGACTGAGTCTTCAGAATGCTTGTCCTCAAATGTCCTGCCAAGATAGACTGTTGGTATGGACATAACATAGCCTTAAAACACAGTGACAAGACAGCCCTGGAGGAAGGGTGTGCCAGCGTATGTGGGTTTCTAATGATTTCATCTTCAAACATGGTCTTGGACGCCACTGCTGCAGCTGCAGCTCTGTGGGAGCCTCTTTTCCAGCCGGGGCCTCCAGGGAGAGCTGGCCCATGAGGCACTAGGCCCTGCCTTGGTGGGTGGGTGAGGACCCAGTTGCCCGCTGCAGGGCCCATGAGCCTGAGGGCAGCCTGGAGCTGCATGCAATCCTCCTTCCATGGGTCTCCCTGGTGTTACTGCTCACACTTTCTCATGTTTGGCTGAGACCTTCTCTAGGAGCAACACCTTTGCTTTCAGGTTCCAGAGAATATGAACTGAAGAATAAGCCGCGGCCAAGGCTCTATGGCTGCCCCACTGGTCTGGCCACGGTCTTCATTCCATACTAGAACATCCAAGGTGTTTCTGTAGGAACAAGCTATTCCTAAACATGCACAGATGTGAAGTCTTTTTGCTGGGAACACATATAATATCCATGGAGCCCATCTGGGAAACACCAGGCTAGCTTAATGAGCTTCTGCTTTCAGGGCAACTTCTTGAAGCCACAAATTAATTAGTTGGGGGAGAAAACCCAAACTTCAGAGCCAGGTTCGTGCGATGGCAATGTGTGGGAATGCTCACCATCACGTGTGACCTCCAGAGGCCTGCTGTGCCCTGAAGGCGCACACCCCAACTGTTGTGCACAATAAAGTTCAAGGAAAGTGGCCTGGAGGCAGCTCATGTGAGCTCACCTCTGCCTGCATAGTGCATGTGGGGGCTGCATACCCTTCCACTAGCACCTGGCGGGGCCAGCCATCACCCACGGTCCTCCCGTGCGTCCTTGTCTTGAAGCTAATGCTGGAAAGCTGGAATCTTTCTGTCTTCCACAGCACAAGAGTCCCACATTCCCCCCCGTGCCATCCCCCCATGCTGTGTGTAGCCCTGGGTGGCCTGGAGCTGGAGGTGACTTCTGGGGAGAGCAGGGGCAGCACTTACCCCCCGCCCGTGCCGCCATTCTTGCTGAAGTGTGTGCGCGGCTCGCTGGAGGCCAGCTTCAGCAGCTCCGTCCACTCCCGCTCCCACTCCTCCTCTGTGTACACCAGCCCTGACTGGCAGAGGGGAGCCGGCTCAGAAGGGGGGTGGGCCACAGCTGCGCTGCCCTCCTCTCCTCACCCTCCCAATCTGGACCAGCCTCACCGGGACCCAGGCCAGGCACATCTGTAGGTAGCTACCAACTATACCAACTGCACCCTCTTGGCCACCTTTGCTATGCACAATATATTTTCAGAAGCCCCAAGCTCTAATTCCAGAGCTGCTGGGAATCTGCCCACCAACAAGGGTCATTCTCAGGGGCTGGGGATGACCGAGCATTAACCTGTGCCTGCACCTAACTGGGGCTGGCCGTTCAGATTCTTCTAGGAGAGCAAGGTCCTCATGTTTACCATGGTTGGGGACAATCGGGAATCCCTTTGGACTGAGCTCACACACAGGGGCTGGGGCCATGGGCTGCACCTGACAGCAGGCAGTCATATATATAATTCATCATCCAAGCCAGGATGCTTTTGGGAATGAAGGTAGGCAGCTTTCATGATTATGCCTTAAGGAAGCACAAGTGGACGCATAGTTGCTGTCTGCCGGGACTCTGCTATTTTAACAGGCTCCTCCTCTGTGGGCTTAAAAGCAGGAGACTTTCCTGATCCCAGGGGCTGTTTCTGCCTTCCCCTCATAAGACTGTCTGGGGCCTGGAGGCCATGCTGTGGACTCGACCACGGCCCGAGGCTGCATCTGGCCTGGGTCCCGGGCTCTGGCCATGCCAGTGGATACCAACCTCCTTATTCTGCTGCGTCTGCTGCCACCTCCACCTCCGCTTCAGGGCTTCCCTCTCAGCTCCCGTCCTCATCATGGTATAGAAAGCTTTCCGTAACACCAGGTCCCGGTCGTGAAACCCCCACATTCCTGGAGCCAGGAGGCCAGGGAGAACAGAGGAGAGAAAGGACATGAGAAAAGACAAGCCAGAGGTGATGCAAACTACCACGACCCACTGGGAGAGCCTCCTGTCTGCACGCAGAACAGCCTCCTTACTCAGCGGTTCTGTTAATTCCCCTCCAGCCTTCTTCCTGAGGCTTCCCATTAAGGCAACTAGGTGAATGAAGCAGCACATCCTGTTCTTAGCAAAACAATAGTGGGTGAAAATCAAGTGCTTTTCCTCTCTGGTGCCCTTGGCAACCCATTCTCAATGTTGCTGGTTTGCTTTGAGGACCTAATGGTCATTATTCAAGTCTTACATTTGGGTGGGGGACTGACTAGGGGACAGGGACAGGCTGTCCAGTGTCCTTATGGAGGGCTCCAGGTGAGGGAGGCCATTAGCATCCTGGCTTCTCCAGGGTCTGCCATTTCCCTCCTCTCCAGCCCTGAGGCATCTCAGCTTCCTGAGAAGCAGAGCGTCAGTGACACCACTGCACACACCTGGCCCAGGAGAGAGCGCCTGCTTCCTAGTGAGAGGGTCTCACCCTGTGCCAGGTGCTGAGAGGATATAGAGAGAAACCAGCCATCTCTGAGAATGTGCTCTGGGCAGCTTAGATGTGATCAAGAACCCCAACTCATGGGAGAAGTGCTCAAGAGAAGGGCAGCTCTGGCTACAAGGGAAAACACAGGGGAATCCATCCATCCATCCGTCCATCCAGCCATCCACCCACCCACGCACCCACTCACTCATTCTAGGTGCTGGGAATATATGTGGCAGTGGCCGGGACACATGAAGTTCCTAAAATCTCATGGAGCACATGTTGTGGGGAAGTGGGAAGTGAGGATAGCCACGAGGCTGGCACAGAGTGTACGATGTTGAGGGTGGCAGCCCCACGAGGAGAGGTGAGGCAGGCAGATCTGCTGTGGCGTGAATGGAGACATAGGAGCAAAGGCTCAAATGGGTGGAGGAAGGAGCCAAGTTGCTGTCCCAGCACAGGGAAAGGCCAGGGACAGACCCAGAGGGGGCAGTACTTGAGAAAAGGCAAGAGGGAAAGGTGGCTAAAGTGGGATCGAGGAGAGAGGGAGAGTGAAAAGGGGGCTCTCGAGGGAACTGTGAGCCTCTGGAGAGTCTACAGAAGGAGAGTAATGTGAACTGATGTTTTCAAAGGCTCAACTGGCTGGGCATCTTTGGATATGCAATAGCCCAGGCCTGCCACAGGCTTCTAGCCAGCAAGGCTTCGCCTTTTTCTATAGGATGGCAGGGGAGGGGGAATGACCACTGTCACTCCTCGCTCATCCTCAGACCTCTTTCAGCTGCCTTCTGGGACTCTCCCACAGCTCCTTGGGCAGGTCTCTCTTGCAGAGATGGCCTCCTTGTCCTGCATATATCTGCCTACAGGCCTGACTCCAAGATGACTGTCATTTCTATATGTGCCCCACAATCCTAGCTCAACGTCAGGCCAGGCCAACAGGGGTTCCACAAGGACTGCTGGTGAATGTCATGTGGCAGCTTTGGGCAGCCCCAGTCCTGCGGAGTTTAGCTATATGGGCACAAAATGAAACAAAGTGCTGGGATAAGAGGACAGATTGCTATGAGCTCTGGGCTTATTGTTGTACAGGGGATTCTTGGAGGGGGGTCTCACAGCCCTGGTCAGTCATGGCCCAGGCTCTCTTGCAGATGGAAATGACCAGCCTGAGGGAGGCTCTCTCTTCCCAGGCAGGCCTGGGAGGCCCACTGTGCTCACAGGGAAAATGCTGTGGGGTGTGGCCTTGCCCCGCTGTTGTGCTGATGGGGACAATGACTCTACATGCTGCAGTTGCTGAGGGACAAAAACATTTCCATGCCCCAGACTTCACAATGAGGCTGCTGTTTGACACAGATGAGAGATTTATTCTTTTAGATTCTTTCTCCAGGTTTTAGAAAGAACAAGGCAAAATATGCTCAATAACAGGGGAATAGTTAATGTTATCCACTATGATAAAATAAGACCCAA
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Task1_train_20497
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This variant affects gene RYR3 (ryanodine receptor 3) located on Chromosome 15. Evaluate its biological effect and specify any disease association.
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Pathogenic; Hydrops fetalis
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CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGCAACAGGGTCTCGCTTTGTGGCCCAGGCTGGTCTCAAACTGCTAGGCTCAAGAAATCCTTCAGCCTCAGCCTCCCAAATTGCTAGGATTATAGGCATGAGCCACTGCACATTGCCTATAATAAGAATTTTGTAACCTCAACCAATGATGTGTCTTCTATTTGCATGAAGTGGCTGAAACACCCAGCTCTCCCTGAGCCATGACAGCCACAGTCCTGCTCCCTCCTGTTGTCCTTCCAGCAACATTGAAGGAACTCATCTCACAGACGATGATCTGCTGGGCCCAGGAGGACCAGATCCAGGATTCAGAGCTGGTCCGAATGATGTTCAACCTCCTCCGGAGGCAGTATGACAGCATTGGGGAGCTGCTGCAGGCGCTGCGGAAGACCTACACCATCAGCCACACCTCTGTAAGCGACACCATCAACCTGCTGGCTGCCCTGGGCCAAATCCGCTCCCTCCTCAGTGTCAGGATGGGCAAGGAAGAGGAGTTGCTCATGATCAATGGGCTGGGGTAGGTGATTCACGGTTACGTGCTGTTCTCTCTAGGAGCTTTAAGTGGGAAAACTGACTTACCTTGATATAGAGATATAGTGGAATCAAATCATATTAAATCTTTGTGTGAACTGATTCCAATTTCACTCCTCATGGAGTCATATCCTTTGCAACCTGAGAGACCCAACTACTCACAGTGAAAGGCATTGCTAAAAGTATGGAGGAGTCTTGGGGAAAAGCAGTTACTTGATTTTAATCTTTTGAAAATAGCCCCAGGGAGCCCATGAAAACATCTGGAGGAAGGGACGGTGTGTTCAACCCAAGACAGAAATGATCTGAGCACCTGAGCTTTTGACTCGAAATCTTCCGAAACTTCCCTCTGAAAAATTGCCACCTGATCTCTCCCTTTTCTCAGGACTAACCTAGAGTCGTTTTTGTTAGTTCATTGAGATAACTTTCCCCTTAACAGTAGCTCATGGCTCTCCCTTAGAAGCCATGTAGTCAAAAAAAATTCATAGCATTTTAGACATCAAAAGGGTTTCCTATAATCACGTAGGGTAGCACTTCTGTTTTGCAGATGAGAACACCAAGGCCCAAAAAGATTCACTAACCAGCCTACAGTTTTACTTTATTAGAATCAAGAACTAGACCTACAGACAACCTCCTACCTAACTTTTCATCCTACCACCCTTGAGCCAGCATACCAAAGGAGCATCACCAAGGTGCAGGAAAGGGACCTTCAGGATCCTTGGAGGGAAATGCACTCATTCGTCAAACTCATTTCCAAAGAGAAATCTTACATAAATGAAGCGACTTTTATGGGAAGACAATACAGTTAGATAATTATTCTCTCCCCAGCCTTCGTAGTAGACATAGCAGAAGTAAAAACTGGCAATTGGAGGTGGTGTTTCCTGCAACCCTCAAGAGAAGGGGAATGGGCAGCCAGAAAGTAACCACCCAGCAAGGGAGTACACAGCAAATTACCAGGCTGTTTCTGTATTTTGATTTGCATGCAGCTTTACTCTGTGAATTTATATTGGATGACTTAAAGATGTAATTGTTCTTACATCTTAATGTCGTGAGTTTTTAAAGACTATTGTCCAAAAGCTTCATTGATATCTAAAATTATTACAAGAAAAAATAAAACAAGGGATGTTTAATAGGTCATCAGAAAGAAATGTTTCAAAGAGAAAAAGCAAGTACTTAGAAATAGAGGAGCACAGAATATTTCAGTCAGCTAAAATGGCCCTCCACATATATTCCAGCTGAACTAGTGCTTTCTTATTATCTTTTCAGCCTGTTACTTTCATATTATTTTGCCCTCTCGTGTGTTTGTGTGTTCTCATCCCTGAATTTTCATAGCATATAAATAAGCAGGTGCTGAAGACTCTCTCTGATCCTTATCCTAGAGACATAATGAACAACAAGGTGTTTTACCAGCATCCCAACCTCATGAGAGTCCTGGGCATGCACGAGACGGTGATGGAGGTGATGGTGAACGTGTTGGGTACAGAGAAATCTCAGGTAATGCTAAAAGGAGAACCTAGCCAGAACTTGTCCCTTGAGGCAGGAGCACGAGGTGACTTGTTCAGAGCCACGTGGCTGGTGTCCCTTGCCTCAGTTTCTCTTCCAGGGAGAGGAAGGGATAGGCACAGTGCCAAGAAGGAGCCAAGCGATGGGATAATGCTGCTGGACGGAATCCCATTGTGTAAGAGCTCTTGAAGCTTGGAGACTTTCTTCATTAATCCCACTGGGCTATTCAGTTGCTAAGTTTACTTCCCGTATTCGGCAGCCCTGCTCTTTCCAAGATGGAATCACTCACTTCCACTTAGGAGCCTGGTGTGTTTTGTGCTGAGTCAGGAGAAGGCTGTTCTAAAGGAGAACAAGATCTCAATAGTGATCCTGGCAGTGTTTCCCCAGAAGTGTTGATGTTTCCTCTGTCAACCGAACTCCTGAAGAAGCCAGGTTTCCTTGCCAGCTCCCTCATAAGGAGCCCGCATCAGGGGGAGCTCCTGTTGCTAAGGGGAGAGTTGTGGGGATAGGACACAACTGGACATTTATCCCAGCTGGGCTGGGGACCTCCTCACGGTTAAACTGCTTCCACAGGCAGTAGATCGGGTATGGCTTCAAATGTTGGAAATTCCAGAGTGCCAGGGTCCTAGGAAGGGATGATTTCTGGTGCAGTTTCATCAGTGCTACTGGGGAGGGGGTGGGTGTGTAGAAGGAACAGAAGCCAGGGTCACGTTCCTCATGGGCTTCCTTCTGATCTCTTGGGAAAGTGAAATCTCTCCAGAAGATCCCTGAGCACATGTCTGGATGCCTCAGCGAGCAGATAGACTACAAGTTTCTGAACCTTATTGCTTAGAGCATCCTCTGTGATATTAAAGGAGGAAATCAAGGTTGTCTTAGGATCCCGAGCAAGGTTAACACTGGCACCATTTATTGAGCACTGTAGGATCAAAACTAAGATTTGGCCCAACCTAGAGATGCTGGTTACTTTGTTAAGTAGAAAAGCCAAGTACAATCAACAGTAATGTAAGATGGCATCTTCATGCTAGACTGCATGAATCAAATTACAAGTGCTATGGAATCCCATAGAAGAGCAATTATCAATGACAAAAGTAGTCAGGGAAGACTCAGAGAGCGATGCCTTTCAGACTTGCGTAACTGTAGAGGCCAGCCTTGACCCAGGGCACTTGGGCTTTGATATACTGGTGGGCCTTATGTGTCTACGATCACCTGTGTCTGTCTGTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCCCCCCCTTTCTCTCTCTCCCCCCTCCTCACTCTCTCCTCTTTCTCTCCTCACTCTTTCCTCACTTTCTCTCCTCACTTTCTCTCCTCTCTGTCTCTCCTCTCTCTCTCATCTCACTCACTCTCTCTCCTCTCTCTCTCTCTCATCTCTCTCTGTCTCTGAATTCTGTCCACTCCCTTCCTACTTGGAAACAATAGCCTGGTAGAAGGTCATGCAATTTCACATGACTTCCGAGGATGATTGGGATTCTTGTTTGACATCTATTTCTCTTGGAGGAAAGATATTTCAGGAACTATAACTCCTATGAATAAGTCTTGAGAAAAAAAATGGAAGGAGAAAGTTCATTTTTCCAAGTGTTCACACTTTACCCACTTAAGACTCTGAGGTCAGAGTTTTCAGAAAGGCCTCATGATAGATTCTTTTGTCTGACACTTTCTACTTCTCCCTACAGATTGCATTTCCAAAGATGGTTGCTAGCTGCTGCCGTTTCCTTTGCTATTTCTGTCGAATTAGCCGGCAAAATCAGAAGGCCATGTTTGAGCATCTGAGTTATCTTCTGGAGAATAGCAGTGTTGGCCTAGGTGCGTAAGTCTTCTTGTAACTTCCACATCCAAACTCGAAGGTTACACTCCCCCTTTTGACCACTTAGGAAAATACAGGGAAAGGAGCCACATGCACGCTGTGATATTTGTAAATACTAGAAGAGACTCTGCCTGATTTAAAACAATTGAAGTAACGATGCCACAAGAACGTTCTCCAACAGAAGTAGAGATGTTGCTACCAGCCAAGA
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CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTAGCAACAGGGTCTCGCTTTGTGGCCCAGGCTGGTCTCAAACTGCTAGGCTCAAGAAATCCTTCAGCCTCAGCCTCCCAAATTGCTAGGATTATAGGCATGAGCCACTGCACATTGCCTATAATAAGAATTTTGTAACCTCAACCAATGATGTGTCTTCTATTTGCATGAAGTGGCTGAAACACCCAGCTCTCCCTGAGCCATGACAGCCACAGTCCTGCTCCCTCCTGTTGTCCTTCCAGCAACATTGAAGGAACTCATCTCACAGACGATGATCTGCTGGGCCCAGGAGGACCAGATCCAGGATTCAGAGCTGGTCCGAATGATGTTCAACCTCCTCCGGAGGCAGTATGACAGCATTGGGGAGCTGCTGCAGGCGCTGCGGAAGACCTACACCATCAGCCACACCTCTGTAAGCGACACCATCAACCTGCTGGCTGCCCTGGGCCAAATCCGCTCCCTCCTCAGTGTCAGGATGGGCAAGGAAGAGGAGTTGCTCATGATCAATGGGCTGGGGTAGGTGATTCACGGTTACGTGCTGTTCTCTCTAGGAGCTTTAAGTGGGAAAACTGACTTACCTTGATATAGAGATATAGTGGAATCAAATCATATTAAATCTTTGTGTGAACTGATTCCAATTTCACTCCTCATGGAGTCATATCCTTTGCAACCTGAGAGACCCAACTACTCACAGTGAAAGGCATTGCTAAAAGTATGGAGGAGTCTTGGGGAAAAGCAGTTACTTGATTTTAATCTTTTGAAAATAGCCCCAGGGAGCCCATGAAAACATCTGGAGGAAGGGACGGTGTGTTCAACCCAAGACAGAAATGATCTGAGCACCTGAGCTTTTGACTCGAAATCTTCCGAAACTTCCCTCTGAAAAATTGCCACCTGATCTCTCCCTTTTCTCAGGACTAACCTAGAGTCGTTTTTGTTAGTTCATTGAGATAACTTTCCCCTTAACAGTAGCTCATGGCTCTCCCTTAGAAGCCATGTAGTCAAAAAAAATTCATAGCATTTTAGACATCAAAAGGGTTTCCTATAATCACGTAGGGTAGCACTTCTGTTTTGCAGATGAGAACACCAAGGCCCAAAAAGATTCACTAACCAGCCTACAGTTTTACTTTATTAGAATCAAGAACTAGACCTACAGACAACCTCCTACCTAACTTTTCATCCTACCACCCTTGAGCCAGCATACCAAAGGAGCATCACCAAGGTGCAGGAAAGGGACCTTCAGGATCCTTGGAGGGAAATGCACTCATTCGTCAAACTCATTTCCAAAGAGAAATCTTACATAAATGAAGCGACTTTTATGGGAAGACAATACAGTTAGATAATTATTCTCTCCCCAGCCTTCGTAGTAGACATAGCAGAAGTAAAAACTGGCAATTGGAGGTGGTGTTTCCTGCAACCCTCAAGAGAAGGGGAATGGGCAGCCAGAAAGTAACCACCCAGCAAGGGAGTACACAGCAAATTACCAGGCTGTTTCTGTATTTTGATTTGCATGCAGCTTTACTCTGTGAATTTATATTGGATGACTTAAAGATGTAATTGTTCTTACATCTTAATGTCGTGAGTTTTTAAAGACTATTGTCCAAAAGCTTCATTGATATCTAAAATTATTACAAGAAAAAATAAAACAAGGGATGTTTAATAGGTCATCAGAAAGAAATGTTTCAAAGAGAAAAAGCAAGTACTTAGAAATAGAGGAGCACAGAATATTTCAGTCAGCTAAAATGGCCCTCCACATATATTCCAGCTGAACTAGTGCTTTCTTATTATCTTTTCAGCCTGTTACTTTCATATTATTTTGCCCTCTCGTGTGTTTGTGTGTTCTCATCCCTGAATTTTCATAGCATATAAATAAGCAGGTGCTGAAGACTCTCTCTGATCCTTATCCTAGAGACATAATGAACAACAAGGTGTTTTACCAGCATCCCAACCTCATGAGAGTCCTGGGCATGCACGAGACGGTGATGGAGGTGATGGTGAACGTGTTGGGTACAGAGAAATCTCCGGTAATGCTAAAAGGAGAACCTAGCCAGAACTTGTCCCTTGAGGCAGGAGCACGAGGTGACTTGTTCAGAGCCACGTGGCTGGTGTCCCTTGCCTCAGTTTCTCTTCCAGGGAGAGGAAGGGATAGGCACAGTGCCAAGAAGGAGCCAAGCGATGGGATAATGCTGCTGGACGGAATCCCATTGTGTAAGAGCTCTTGAAGCTTGGAGACTTTCTTCATTAATCCCACTGGGCTATTCAGTTGCTAAGTTTACTTCCCGTATTCGGCAGCCCTGCTCTTTCCAAGATGGAATCACTCACTTCCACTTAGGAGCCTGGTGTGTTTTGTGCTGAGTCAGGAGAAGGCTGTTCTAAAGGAGAACAAGATCTCAATAGTGATCCTGGCAGTGTTTCCCCAGAAGTGTTGATGTTTCCTCTGTCAACCGAACTCCTGAAGAAGCCAGGTTTCCTTGCCAGCTCCCTCATAAGGAGCCCGCATCAGGGGGAGCTCCTGTTGCTAAGGGGAGAGTTGTGGGGATAGGACACAACTGGACATTTATCCCAGCTGGGCTGGGGACCTCCTCACGGTTAAACTGCTTCCACAGGCAGTAGATCGGGTATGGCTTCAAATGTTGGAAATTCCAGAGTGCCAGGGTCCTAGGAAGGGATGATTTCTGGTGCAGTTTCATCAGTGCTACTGGGGAGGGGGTGGGTGTGTAGAAGGAACAGAAGCCAGGGTCACGTTCCTCATGGGCTTCCTTCTGATCTCTTGGGAAAGTGAAATCTCTCCAGAAGATCCCTGAGCACATGTCTGGATGCCTCAGCGAGCAGATAGACTACAAGTTTCTGAACCTTATTGCTTAGAGCATCCTCTGTGATATTAAAGGAGGAAATCAAGGTTGTCTTAGGATCCCGAGCAAGGTTAACACTGGCACCATTTATTGAGCACTGTAGGATCAAAACTAAGATTTGGCCCAACCTAGAGATGCTGGTTACTTTGTTAAGTAGAAAAGCCAAGTACAATCAACAGTAATGTAAGATGGCATCTTCATGCTAGACTGCATGAATCAAATTACAAGTGCTATGGAATCCCATAGAAGAGCAATTATCAATGACAAAAGTAGTCAGGGAAGACTCAGAGAGCGATGCCTTTCAGACTTGCGTAACTGTAGAGGCCAGCCTTGACCCAGGGCACTTGGGCTTTGATATACTGGTGGGCCTTATGTGTCTACGATCACCTGTGTCTGTCTGTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCCCCCCCTTTCTCTCTCTCCCCCCTCCTCACTCTCTCCTCTTTCTCTCCTCACTCTTTCCTCACTTTCTCTCCTCACTTTCTCTCCTCTCTGTCTCTCCTCTCTCTCTCATCTCACTCACTCTCTCTCCTCTCTCTCTCTCTCATCTCTCTCTGTCTCTGAATTCTGTCCACTCCCTTCCTACTTGGAAACAATAGCCTGGTAGAAGGTCATGCAATTTCACATGACTTCCGAGGATGATTGGGATTCTTGTTTGACATCTATTTCTCTTGGAGGAAAGATATTTCAGGAACTATAACTCCTATGAATAAGTCTTGAGAAAAAAAATGGAAGGAGAAAGTTCATTTTTCCAAGTGTTCACACTTTACCCACTTAAGACTCTGAGGTCAGAGTTTTCAGAAAGGCCTCATGATAGATTCTTTTGTCTGACACTTTCTACTTCTCCCTACAGATTGCATTTCCAAAGATGGTTGCTAGCTGCTGCCGTTTCCTTTGCTATTTCTGTCGAATTAGCCGGCAAAATCAGAAGGCCATGTTTGAGCATCTGAGTTATCTTCTGGAGAATAGCAGTGTTGGCCTAGGTGCGTAAGTCTTCTTGTAACTTCCACATCCAAACTCGAAGGTTACACTCCCCCTTTTGACCACTTAGGAAAATACAGGGAAAGGAGCCACATGCACGCTGTGATATTTGTAAATACTAGAAGAGACTCTGCCTGATTTAAAACAATTGAAGTAACGATGCCACAAGAACGTTCTCCAACAGAAGTAGAGATGTTGCTACCAGCCAAGA
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Task1_train_20498
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A variant has been detected on Chromosome 15 in SLC12A6 (solute carrier family 12 member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; not provided
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CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACTATTATAAATAGAACTTTTGTAAAATGCAATAAAAATGAATTATTCGAAAAATTATCACATGCCTGGATGCTGTAGCAATGTCAAACTGCCACAAAAGTTTCTAAATGATTATTCTCAATTCTATAGTTGTCTTATCATGAAACAGTCGGTAGATGTGCACTAAACCCCAAACTGTCCTTTGCAACAGAAGATGTTTCCAACTGCTGGAAAACCATATAAATAACGGAACACTATCAGTCATCTGCAGTTATGAGGACAATTAATACTTACTTGGCAAAGCCAGGATGGGACACGCAGCCAGAAATGTTAATAACTCTAGGATCTTTTTAAAAAATTTCATATAAATATTTCTAAAAATTTTATAAATACTTATTAGCATAACTGCAGAACTCACTGAGAAAAATTATTTTTGGGCCGGATGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACAAGGTCAGAAGACTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGATCTCAGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTACTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCATAAAGAACTTCTAACTAACATTAAAGCTAGAAAGAGGATTTGAGGCATTAAAAATCAGTTGAAGATTTTAATTTTTGCCCAGTAAACGTTACATCACTGCCCACCATTGGTAAGTGAAGACAGAAAGGGAACAAGGAGAAAGTTAGCAAAGAAGAATGTAGCAACGGGTACATACAGGACATAATTAATGAGCTCTGAGCTATAAGAGGAAAGAGATGGGATGGTAGCCAAAAATCTTTCATGATGACCCCTTCAGGACTGGGGAGACTTAACTACAACAGCAGCAGCAGCAACAGTTCATTGAGAGCTGAGCTTTACTATGTATCAGGCACTACGATAAGCACTTTAGATTTATTAGTCCCATTTTACAAATGAATAAAATTAAATTTTACATGGTTATGTGCTTTGCTGAAGGTTACAAAGCTAGGAAATAGTAGAGCTGAGATTGGAATTTAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAGACTTACCAATGGTAGTAGCGGAATCGGGGTCTCCAGTTGGGTGTTCGAAGTAATGTTTGCAAGGCACATGCCAAGTTTACAAAGAGGTAACACATGAGAAAAAACCTGAAGAATAAAGAGTAAGAGGAATGATTATTACTGGAAGATGATTCTTTGAAGGTTAAGTAACTGAATACCTTTGCTGTATTGAAGCCTGTTTCTAGACAACTAACCCTTGATTAAGTAGGAAGTAGGGAAACTTAAACCTCTCCCCACAAAACTGTTCATCCTTCTCTGTTCTCTCAGTCAATGACACAACCACTCTTTACCCAGTTGTTCTTAGGATAATCCAGGTTTCCTCTTCCTTACCCTTGTTCCAAATTCACTTACCAAGTCCTATGGATTCTATTTAAAAATCTCTTAAGCTGCTTCTCTTCCTTTTCATCTCTACTACTAATCACCTTAGTTCAGGCTCTCATTTCTTCTTTCCAATTAGCATTCCCAGCTCAATTCTAGCCTCCTTCTAATCCATCTTTTATACAAGATTGATCATCCTAAAGCATTATCATTTTGTGCTCAAGGATTACCCACTACTTCCAGGTAAAAGTTCCAGGACCTTTGTGATCTGGGTCTACCTACTTCTCTATTCTGTTATTCCCTCAACATGTACCCTCCACTCTAGCCAAGCCAAACTACTTCCAGTTCTCTGGATGTGCTACCTTATGCCATCCCTCAATTCCTTTATATGCATTCTCTGCCTGGAATGTTCTTCACCCCTTATTTTCTTAGCAAATAACCAGTTATTCTTCAAGATACAAGTATCACTTCCTCCGGAAAATCTTTCTTGAGTTTCCATCTGTTTAGATGCCTTGCTCTGGTGTTCCTAGGGCACTCAGTGTTCACCTTTATCATGGCACTCATCACGCTATATGGGAATCATTGGTTTCCTTATCCATTATCAGTTCCATAAGATTGTGTCTTATCCATCTTTGTATTCCCAGAATACCACATTACACAGTGCCAGGTAAGTAGTAAGCATCAATAAGTCATAGGTGAATAAATAAATAAAAACTAACAGTGGTGGTAAAAGCTACAACCAATTGACAATGAATTAGAAATGAAGCCAAAGAACTTTTGAAGTTAAATAGGTAGGAAAAAACCTAATAACTTACAAAAGTTAGCCTTACTTGGAAGTTCTCAGGAATGATTTTTATTTAAGTGAAGTTACATCTGTATTTAGCCCACTCTGTTATCACTACTGTTATATGACTGATGGAAATAAACATGCATTATTTATCATTTAAGCAAGAATAACTGAAGAGAATCACTGGCTCTTACATGGAAAGAATTGGGGCCACAAGATCCAGGGAGGCAATGAGTATTCCAAGCTCTGCAATGGCAGCAGTTAGAAGTAAAGCCCAGGTAGGTTCCCCATTGGCTTTGCTGTGGCCAAAAACCTGTACACAGAAGGGAAATATCAGGCACAGGAGTACTGAGTCATTGCTCTCTGATTTCTCTAGCCTACAGTTTTCAGACATCTGGAAGACAACAGTGTTACAACTGTGATACCTTTTAAATACCTTTACAGCACTCACAGGTAAACTCATGCTTGGGATTTAGAGGTTCTTGTACTAAAAACCCACGTCTCCACATTTATGATCTAGTAATTTCTAAGCCCATGAAGACCACACTGTTTCTCATTAAAGCTGGGAAAAAAAGAAGAGGGCATAATAAAAGGTCACTCACCCTCAGAAACGGTATGATGTTATCCTTGGCAATAGCTTGTAGCAGCCTCGGTGCACCTGTGAGGCTCTGAAGTCCAGCCCCACATGTTGAAAAGAAGGAGCCAATAACAATCACCCATGGGGATGGCCAAGATAAGGTGCCTACCACCAAATTACCTTTCACAGCATCACCGAACCTGGGAAAGAAATAGGAGTGGGAAATTTAATCTGGAAATAACTTTAGACTGAAAGACTAGAGATATTCACCCAATTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTCCAAACTCCGCCCCCCAA
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CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACTATTATAAATAGAACTTTTGTAAAATGCAATAAAAATGAATTATTCGAAAAATTATCACATGCCTGGATGCTGTAGCAATGTCAAACTGCCACAAAAGTTTCTAAATGATTATTCTCAATTCTATAGTTGTCTTATCATGAAACAGTCGGTAGATGTGCACTAAACCCCAAACTGTCCTTTGCAACAGAAGATGTTTCCAACTGCTGGAAAACCATATAAATAACGGAACACTATCAGTCATCTGCAGTTATGAGGACAATTAATACTTACTTGGCAAAGCCAGGATGGGACACGCAGCCAGAAATGTTAATAACTCTAGGATCTTTTTAAAAAATTTCATATAAATATTTCTAAAAATTTTATAAATACTTATTAGCATAACTGCAGAACTCACTGAGAAAAATTATTTTTGGGCCGGATGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACAAGGTCAGAAGACTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGATCTCAGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTACTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCATAAAGAACTTCTAACTAACATTAAAGCTAGAAAGAGGATTTGAGGCATTAAAAATCAGTTGAAGATTTTAATTTTTGCCCAGTAAACGTTACATCACTGCCCACCATTGGTAAGTGAAGACAGAAAGGGAACAAGGAGAAAGTTAGCAAAGAAGAATGTAGCAACGGGTACATACAGGACATAATTAATGAGCTCTGAGCTATAAGAGGAAAGAGATGGGATGGTAGCCAAAAATCTTTCATGATGACCCCTTCAGGACTGGGGAGACTTAACTACAACAGCAGCAGCAGCAACAGTTCATTGAGAGCTGAGCTTTACTATGTATCAGGCACTACGATAAGCACTTTAGATTTATTAGTCCCATTTTACAAATGAATAAAATTAAATTTTACATGGTTATGTGCTTTGCTGAAGGTTACAAAGCTAGGAAATAGTAGAGCTGAGATTGGAATTTAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAGACTTACCAATGGCAGTAGCGGAATCGGGGTCTCCAGTTGGGTGTTCGAAGTAATGTTTGCAAGGCACATGCCAAGTTTACAAAGAGGTAACACATGAGAAAAAACCTGAAGAATAAAGAGTAAGAGGAATGATTATTACTGGAAGATGATTCTTTGAAGGTTAAGTAACTGAATACCTTTGCTGTATTGAAGCCTGTTTCTAGACAACTAACCCTTGATTAAGTAGGAAGTAGGGAAACTTAAACCTCTCCCCACAAAACTGTTCATCCTTCTCTGTTCTCTCAGTCAATGACACAACCACTCTTTACCCAGTTGTTCTTAGGATAATCCAGGTTTCCTCTTCCTTACCCTTGTTCCAAATTCACTTACCAAGTCCTATGGATTCTATTTAAAAATCTCTTAAGCTGCTTCTCTTCCTTTTCATCTCTACTACTAATCACCTTAGTTCAGGCTCTCATTTCTTCTTTCCAATTAGCATTCCCAGCTCAATTCTAGCCTCCTTCTAATCCATCTTTTATACAAGATTGATCATCCTAAAGCATTATCATTTTGTGCTCAAGGATTACCCACTACTTCCAGGTAAAAGTTCCAGGACCTTTGTGATCTGGGTCTACCTACTTCTCTATTCTGTTATTCCCTCAACATGTACCCTCCACTCTAGCCAAGCCAAACTACTTCCAGTTCTCTGGATGTGCTACCTTATGCCATCCCTCAATTCCTTTATATGCATTCTCTGCCTGGAATGTTCTTCACCCCTTATTTTCTTAGCAAATAACCAGTTATTCTTCAAGATACAAGTATCACTTCCTCCGGAAAATCTTTCTTGAGTTTCCATCTGTTTAGATGCCTTGCTCTGGTGTTCCTAGGGCACTCAGTGTTCACCTTTATCATGGCACTCATCACGCTATATGGGAATCATTGGTTTCCTTATCCATTATCAGTTCCATAAGATTGTGTCTTATCCATCTTTGTATTCCCAGAATACCACATTACACAGTGCCAGGTAAGTAGTAAGCATCAATAAGTCATAGGTGAATAAATAAATAAAAACTAACAGTGGTGGTAAAAGCTACAACCAATTGACAATGAATTAGAAATGAAGCCAAAGAACTTTTGAAGTTAAATAGGTAGGAAAAAACCTAATAACTTACAAAAGTTAGCCTTACTTGGAAGTTCTCAGGAATGATTTTTATTTAAGTGAAGTTACATCTGTATTTAGCCCACTCTGTTATCACTACTGTTATATGACTGATGGAAATAAACATGCATTATTTATCATTTAAGCAAGAATAACTGAAGAGAATCACTGGCTCTTACATGGAAAGAATTGGGGCCACAAGATCCAGGGAGGCAATGAGTATTCCAAGCTCTGCAATGGCAGCAGTTAGAAGTAAAGCCCAGGTAGGTTCCCCATTGGCTTTGCTGTGGCCAAAAACCTGTACACAGAAGGGAAATATCAGGCACAGGAGTACTGAGTCATTGCTCTCTGATTTCTCTAGCCTACAGTTTTCAGACATCTGGAAGACAACAGTGTTACAACTGTGATACCTTTTAAATACCTTTACAGCACTCACAGGTAAACTCATGCTTGGGATTTAGAGGTTCTTGTACTAAAAACCCACGTCTCCACATTTATGATCTAGTAATTTCTAAGCCCATGAAGACCACACTGTTTCTCATTAAAGCTGGGAAAAAAAGAAGAGGGCATAATAAAAGGTCACTCACCCTCAGAAACGGTATGATGTTATCCTTGGCAATAGCTTGTAGCAGCCTCGGTGCACCTGTGAGGCTCTGAAGTCCAGCCCCACATGTTGAAAAGAAGGAGCCAATAACAATCACCCATGGGGATGGCCAAGATAAGGTGCCTACCACCAAATTACCTTTCACAGCATCACCGAACCTGGGAAAGAAATAGGAGTGGGAAATTTAATCTGGAAATAACTTTAGACTGAAAGACTAGAGATATTCACCCAATTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTCCAAACTCCGCCCCCCAA
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Task1_train_20499
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A genetic alteration is present in SLC12A6 (solute carrier family 12 member 6) on Chromosome 15. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Charcot-Marie-Tooth disease, axonal, IIa 2II
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CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACTATTATAAATAGAACTTTTGTAAAATGCAATAAAAATGAATTATTCGAAAAATTATCACATGCCTGGATGCTGTAGCAATGTCAAACTGCCACAAAAGTTTCTAAATGATTATTCTCAATTCTATAGTTGTCTTATCATGAAACAGTCGGTAGATGTGCACTAAACCCCAAACTGTCCTTTGCAACAGAAGATGTTTCCAACTGCTGGAAAACCATATAAATAACGGAACACTATCAGTCATCTGCAGTTATGAGGACAATTAATACTTACTTGGCAAAGCCAGGATGGGACACGCAGCCAGAAATGTTAATAACTCTAGGATCTTTTTAAAAAATTTCATATAAATATTTCTAAAAATTTTATAAATACTTATTAGCATAACTGCAGAACTCACTGAGAAAAATTATTTTTGGGCCGGATGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACAAGGTCAGAAGACTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGATCTCAGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTACTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCATAAAGAACTTCTAACTAACATTAAAGCTAGAAAGAGGATTTGAGGCATTAAAAATCAGTTGAAGATTTTAATTTTTGCCCAGTAAACGTTACATCACTGCCCACCATTGGTAAGTGAAGACAGAAAGGGAACAAGGAGAAAGTTAGCAAAGAAGAATGTAGCAACGGGTACATACAGGACATAATTAATGAGCTCTGAGCTATAAGAGGAAAGAGATGGGATGGTAGCCAAAAATCTTTCATGATGACCCCTTCAGGACTGGGGAGACTTAACTACAACAGCAGCAGCAGCAACAGTTCATTGAGAGCTGAGCTTTACTATGTATCAGGCACTACGATAAGCACTTTAGATTTATTAGTCCCATTTTACAAATGAATAAAATTAAATTTTACATGGTTATGTGCTTTGCTGAAGGTTACAAAGCTAGGAAATAGTAGAGCTGAGATTGGAATTTAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAGACTTACCAATGGTAGTAGCGGAATCGGGGTCTCCAGTTGGGTGTTCGAAGTAATGTTTGCAAGGCACATGCCAAGTTTACAAAGAGGTAACACATGAGAAAAAACCTGAAGAATAAAGAGTAAGAGGAATGATTATTACTGGAAGATGATTCTTTGAAGGTTAAGTAACTGAATACCTTTGCTGTATTGAAGCCTGTTTCTAGACAACTAACCCTTGATTAAGTAGGAAGTAGGGAAACTTAAACCTCTCCCCACAAAACTGTTCATCCTTCTCTGTTCTCTCAGTCAATGACACAACCACTCTTTACCCAGTTGTTCTTAGGATAATCCAGGTTTCCTCTTCCTTACCCTTGTTCCAAATTCACTTACCAAGTCCTATGGATTCTATTTAAAAATCTCTTAAGCTGCTTCTCTTCCTTTTCATCTCTACTACTAATCACCTTAGTTCAGGCTCTCATTTCTTCTTTCCAATTAGCATTCCCAGCTCAATTCTAGCCTCCTTCTAATCCATCTTTTATACAAGATTGATCATCCTAAAGCATTATCATTTTGTGCTCAAGGATTACCCACTACTTCCAGGTAAAAGTTCCAGGACCTTTGTGATCTGGGTCTACCTACTTCTCTATTCTGTTATTCCCTCAACATGTACCCTCCACTCTAGCCAAGCCAAACTACTTCCAGTTCTCTGGATGTGCTACCTTATGCCATCCCTCAATTCCTTTATATGCATTCTCTGCCTGGAATGTTCTTCACCCCTTATTTTCTTAGCAAATAACCAGTTATTCTTCAAGATACAAGTATCACTTCCTCCGGAAAATCTTTCTTGAGTTTCCATCTGTTTAGATGCCTTGCTCTGGTGTTCCTAGGGCACTCAGTGTTCACCTTTATCATGGCACTCATCACGCTATATGGGAATCATTGGTTTCCTTATCCATTATCAGTTCCATAAGATTGTGTCTTATCCATCTTTGTATTCCCAGAATACCACATTACACAGTGCCAGGTAAGTAGTAAGCATCAATAAGTCATAGGTGAATAAATAAATAAAAACTAACAGTGGTGGTAAAAGCTACAACCAATTGACAATGAATTAGAAATGAAGCCAAAGAACTTTTGAAGTTAAATAGGTAGGAAAAAACCTAATAACTTACAAAAGTTAGCCTTACTTGGAAGTTCTCAGGAATGATTTTTATTTAAGTGAAGTTACATCTGTATTTAGCCCACTCTGTTATCACTACTGTTATATGACTGATGGAAATAAACATGCATTATTTATCATTTAAGCAAGAATAACTGAAGAGAATCACTGGCTCTTACATGGAAAGAATTGGGGCCACAAGATCCAGGGAGGCAATGAGTATTCCAAGCTCTGCAATGGCAGCAGTTAGAAGTAAAGCCCAGGTAGGTTCCCCATTGGCTTTGCTGTGGCCAAAAACCTGTACACAGAAGGGAAATATCAGGCACAGGAGTACTGAGTCATTGCTCTCTGATTTCTCTAGCCTACAGTTTTCAGACATCTGGAAGACAACAGTGTTACAACTGTGATACCTTTTAAATACCTTTACAGCACTCACAGGTAAACTCATGCTTGGGATTTAGAGGTTCTTGTACTAAAAACCCACGTCTCCACATTTATGATCTAGTAATTTCTAAGCCCATGAAGACCACACTGTTTCTCATTAAAGCTGGGAAAAAAAGAAGAGGGCATAATAAAAGGTCACTCACCCTCAGAAACGGTATGATGTTATCCTTGGCAATAGCTTGTAGCAGCCTCGGTGCACCTGTGAGGCTCTGAAGTCCAGCCCCACATGTTGAAAAGAAGGAGCCAATAACAATCACCCATGGGGATGGCCAAGATAAGGTGCCTACCACCAAATTACCTTTCACAGCATCACCGAACCTGGGAAAGAAATAGGAGTGGGAAATTTAATCTGGAAATAACTTTAGACTGAAAGACTAGAGATATTCACCCAATTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTCCAAACTCCGCCCCCCAA
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CTTGTGATGAAAAGCTTGCATCATTAAGATGGTTAAAGAATTAGGGGTACAAAATATAGTTATGAAAATGAAGTTACCTGAGTCCTTAAGATATTTTCACTGAGCTGGCTCTAACCAAACTAGCTAGTCTTGCTACTTTTAGCAGTGATCAAGATTAAATCCACACTCACCCTTGGTATTCAATGTACTTGTAGATCATACCAGCTATTACCATGGCTACAATGGCATAATACCAGGAAGAAATGAACATCAGAGCCAGACAGATACTCATTCCCATGAAAGAAAGGGCCCTAGAAAATTAAAAACAAAAAAGTATCTTTTAAAGTAGCTGAAAAAGAAGCCTATGTTAAAGGTGCTTCTCAAACTATCTGTGGTGAGGTATTATTTTTTAAAAACTTTGAAACTATTATAAATAGAACTTTTGTAAAATGCAATAAAAATGAATTATTCGAAAAATTATCACATGCCTGGATGCTGTAGCAATGTCAAACTGCCACAAAAGTTTCTAAATGATTATTCTCAATTCTATAGTTGTCTTATCATGAAACAGTCGGTAGATGTGCACTAAACCCCAAACTGTCCTTTGCAACAGAAGATGTTTCCAACTGCTGGAAAACCATATAAATAACGGAACACTATCAGTCATCTGCAGTTATGAGGACAATTAATACTTACTTGGCAAAGCCAGGATGGGACACGCAGCCAGAAATGTTAATAACTCTAGGATCTTTTTAAAAAATTTCATATAAATATTTCTAAAAATTTTATAAATACTTATTAGCATAACTGCAGAACTCACTGAGAAAAATTATTTTTGGGCCGGATGCGGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGATGGATCACAAGGTCAGAAGACTGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTTTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCTGGGATCTCAGCTCACTGCAACCTCCGACTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCATGCCCGGCTACTTTTGTATTTTTAGTAGAGACGGGGTTTCCCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCTCATAAAGAACTTCTAACTAACATTAAAGCTAGAAAGAGGATTTGAGGCATTAAAAATCAGTTGAAGATTTTAATTTTTGCCCAGTAAACGTTACATCACTGCCCACCATTGGTAAGTGAAGACAGAAAGGGAACAAGGAGAAAGTTAGCAAAGAAGAATGTAGCAACGGGTACATACAGGACATAATTAATGAGCTCTGAGCTATAAGAGGAAAGAGATGGGATGGTAGCCAAAAATCTTTCATGATGACCCCTTCAGGACTGGGGAGACTTAACTACAACAGCAGCAGCAGCAACAGTTCATTGAGAGCTGAGCTTTACTATGTATCAGGCACTACGATAAGCACTTTAGATTTATTAGTCCCATTTTACAAATGAATAAAATTAAATTTTACATGGTTATGTGCTTTGCTGAAGGTTACAAAGCTAGGAAATAGTAGAGCTGAGATTGGAATTTAGAACCTCTGACTCTGTAACCCTAAGAGACAAACAGGAAAATAAACATGCAAGAGAAGGTTGTTTTAACCTGAAAATTATAGAAGGCTGGATATCTCTATTTAGTGCTTTTGCTCTATTCGTATTGGGTGTTATAAGTTATTATAAAGTGATATAGGAAAATAGGATAGGAGGATGAGGATTCAGATAAGAATTGAAAGTTGAAACAGTATGAAATGGCTGACCAAGAAAAAAATTTTATCGAGAACCCAGACTCTCCTAGTTTTCTAGTTCAAAGATGGGTTCTCTCCAAACGTGAGTAAAAAGAATAAAAGAAGCAGACTTACCAATGGGAGTAGCGGAATCGGGGTCTCCAGTTGGGTGTTCGAAGTAATGTTTGCAAGGCACATGCCAAGTTTACAAAGAGGTAACACATGAGAAAAAACCTGAAGAATAAAGAGTAAGAGGAATGATTATTACTGGAAGATGATTCTTTGAAGGTTAAGTAACTGAATACCTTTGCTGTATTGAAGCCTGTTTCTAGACAACTAACCCTTGATTAAGTAGGAAGTAGGGAAACTTAAACCTCTCCCCACAAAACTGTTCATCCTTCTCTGTTCTCTCAGTCAATGACACAACCACTCTTTACCCAGTTGTTCTTAGGATAATCCAGGTTTCCTCTTCCTTACCCTTGTTCCAAATTCACTTACCAAGTCCTATGGATTCTATTTAAAAATCTCTTAAGCTGCTTCTCTTCCTTTTCATCTCTACTACTAATCACCTTAGTTCAGGCTCTCATTTCTTCTTTCCAATTAGCATTCCCAGCTCAATTCTAGCCTCCTTCTAATCCATCTTTTATACAAGATTGATCATCCTAAAGCATTATCATTTTGTGCTCAAGGATTACCCACTACTTCCAGGTAAAAGTTCCAGGACCTTTGTGATCTGGGTCTACCTACTTCTCTATTCTGTTATTCCCTCAACATGTACCCTCCACTCTAGCCAAGCCAAACTACTTCCAGTTCTCTGGATGTGCTACCTTATGCCATCCCTCAATTCCTTTATATGCATTCTCTGCCTGGAATGTTCTTCACCCCTTATTTTCTTAGCAAATAACCAGTTATTCTTCAAGATACAAGTATCACTTCCTCCGGAAAATCTTTCTTGAGTTTCCATCTGTTTAGATGCCTTGCTCTGGTGTTCCTAGGGCACTCAGTGTTCACCTTTATCATGGCACTCATCACGCTATATGGGAATCATTGGTTTCCTTATCCATTATCAGTTCCATAAGATTGTGTCTTATCCATCTTTGTATTCCCAGAATACCACATTACACAGTGCCAGGTAAGTAGTAAGCATCAATAAGTCATAGGTGAATAAATAAATAAAAACTAACAGTGGTGGTAAAAGCTACAACCAATTGACAATGAATTAGAAATGAAGCCAAAGAACTTTTGAAGTTAAATAGGTAGGAAAAAACCTAATAACTTACAAAAGTTAGCCTTACTTGGAAGTTCTCAGGAATGATTTTTATTTAAGTGAAGTTACATCTGTATTTAGCCCACTCTGTTATCACTACTGTTATATGACTGATGGAAATAAACATGCATTATTTATCATTTAAGCAAGAATAACTGAAGAGAATCACTGGCTCTTACATGGAAAGAATTGGGGCCACAAGATCCAGGGAGGCAATGAGTATTCCAAGCTCTGCAATGGCAGCAGTTAGAAGTAAAGCCCAGGTAGGTTCCCCATTGGCTTTGCTGTGGCCAAAAACCTGTACACAGAAGGGAAATATCAGGCACAGGAGTACTGAGTCATTGCTCTCTGATTTCTCTAGCCTACAGTTTTCAGACATCTGGAAGACAACAGTGTTACAACTGTGATACCTTTTAAATACCTTTACAGCACTCACAGGTAAACTCATGCTTGGGATTTAGAGGTTCTTGTACTAAAAACCCACGTCTCCACATTTATGATCTAGTAATTTCTAAGCCCATGAAGACCACACTGTTTCTCATTAAAGCTGGGAAAAAAAGAAGAGGGCATAATAAAAGGTCACTCACCCTCAGAAACGGTATGATGTTATCCTTGGCAATAGCTTGTAGCAGCCTCGGTGCACCTGTGAGGCTCTGAAGTCCAGCCCCACATGTTGAAAAGAAGGAGCCAATAACAATCACCCATGGGGATGGCCAAGATAAGGTGCCTACCACCAAATTACCTTTCACAGCATCACCGAACCTGGGAAAGAAATAGGAGTGGGAAATTTAATCTGGAAATAACTTTAGACTGAAAGACTAGAGATATTCACCCAATTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTCCAAACTCCGCCCCCCAA
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Subsets and Splits
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