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_1600
|
Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Gaucher disease type I
|
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
|
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
|
Task1_train_1601
|
The following genetic variant occurs in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Gaucher disease type II
|
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
|
GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
|
Task1_train_1602
|
A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Gaucher disease type III
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1603
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This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Lewy body dementia
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1604
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A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Parkinson disease, late-onset
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1605
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Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Gaucher disease perinatal lethal
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1606
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This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; not specified
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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GACTGGGGAGCACAGGCCTGAGGACGAGGAAGAGCTGGAGAAGGAGGTAGCTCTGAGACCGGGGGCTATTGTATGAGATGAGCCCCAAGGATGCTGGCCAGGAATGGGAGTGCTTAGGTGCGGAGGTGGCACTGTTCCCGCAGCTGCAAGCCTACCTGTGTCGCCCCTACAGCTGTACCGAGAGGCTCGGGAGTGTCTGACCCTGCTCTCTCAGCGCCTGGGCTCTCAAAAGTTCTTCTTTGGAGATGCGTGAGTCTGACTCCAAGAGGGTAATGGGTGGCTTGGAAGAAGATACAGGTTCAGATGGAGCAGCTGGAGCTGGGGCTGGGGCTGGGGCTGGCTCAGGCTCTGGATAGGAGGTCCCTGAGACAGATACTGGCCCTGGTGACAGTGGGGCTGTGCGTGGGGCCAGAGCCTTCTCAGAGGTACAAAAGGGTAGGGTGGGAGGGCAGCCAGGCACAGGAAGGGCCTGAAGAGCTGTGGGGCACTGAGTGTGCCCTTTATGCAGCCCTGGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCAGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAAT
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Task1_train_1607
|
Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Lewy body dementia
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GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
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GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGAGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
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Task1_train_1608
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A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Gaucher disease type II
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GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
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GGGATAGAGCCCTATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGCGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCA
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Task1_train_1609
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A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Gaucher disease
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ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTG
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ATTCAGGGCCAGGCTGGCGCCACCTGGGGATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAATCGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTG
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Task1_train_1610
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Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Gaucher disease type I
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ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGA
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ATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGAGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGA
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Task1_train_1611
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Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease
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CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGA
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CCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTTGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGA
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Task1_train_1612
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A variant was discovered in gene LOC106627981, GBA1 (GBA recombination region| glucosylceramidase beta 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Gaucher disease perinatal lethal
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ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGC
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ATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGAAAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGC
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Task1_train_1613
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A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Parkinson disease, late-onset
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CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGA
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CTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCTATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGA
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Task1_train_1614
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This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Gaucher disease perinatal lethal
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TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCA
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TGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGAGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCA
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Task1_train_1615
|
A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Gaucher disease type I
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CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGA
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CCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGACGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGA
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Task1_train_1616
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1617
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; Gaucher disease type I
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1618
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This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Gaucher disease type II
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1619
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This sequence variant lies in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Gaucher disease type III
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1620
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Gaucher disease perinatal lethal
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1621
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A variant affecting Chromosome 1, within the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1622
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A change on Chromosome 1 affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
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Pathogenic; Gaucher disease type I
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1623
|
Chromosome 1 houses a mutation in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
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Pathogenic; Gaucher disease type II
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1624
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Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Gaucher disease type III
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCACACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1625
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Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Gaucher disease type III
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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CTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCCCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGA
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Task1_train_1626
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Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance.
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Pathogenic; Gaucher disease type II
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AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCC
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AGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACCGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCC
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Task1_train_1627
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The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Gaucher disease type I
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ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTT
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ATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTAACAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTT
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Task1_train_1628
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
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Pathogenic; not specified
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CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCC
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CCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAACAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCC
|
Task1_train_1629
|
A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Gaucher disease type I
|
TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACG
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TTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGAGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACG
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Task1_train_1630
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Here is a mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Gaucher disease
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1631
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A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; GBA1-related disorder
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1632
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Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease type I
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1633
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This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1634
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Consider a variant on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine its clinical classification and disease relevance.
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Pathogenic; Gaucher disease type I
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1635
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Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gaucher disease type II
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1636
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A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Gaucher disease type III
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1637
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1638
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A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Gaucher disease type I
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1639
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Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease type II
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1640
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Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Gaucher disease type III
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1641
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This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Lewy body dementia
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1642
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This sequence change occurs on Chromosome 1, altering GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is the medical significance of this variant — is it benign or linked to a disease?
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Pathogenic; Parkinson disease, late-onset
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1643
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A variant has been detected on Chromosome 1 in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its effect — pathogenic or benign? If pathogenic, name the disease.
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Pathogenic; Gaucher disease perinatal lethal
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1644
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Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Parkinson disease, late-onset
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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TCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTTGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCC
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Task1_train_1645
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This is a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1. Is this mutation a likely cause of disease or not?
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Pathogenic; Gaucher disease perinatal lethal
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CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAAT
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CCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTTAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAAT
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Task1_train_1646
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With a mutation on Chromosome 1 in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
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Pathogenic; Gaucher disease type I
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TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAG
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TGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGACCCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAG
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Task1_train_1647
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Mutation context: Chromosome 1, Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; not provided
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CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGA
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CTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACTCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGA
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Task1_train_1648
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This genomic variant is located on Chromosome 1, within the GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) gene. Can you determine its pathogenicity and name any linked disease?
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Pathogenic; Gaucher disease
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GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTG
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GGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCCCCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTG
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Task1_train_1649
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Given a variant located on Chromosome 1 and affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Gaucher disease type I
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1650
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Gaucher disease type II
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1651
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Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1652
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This gene mutation involves GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Gaucher disease type I
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1653
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Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Gaucher disease type II
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1654
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Here is a variant affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder.
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Pathogenic; Gaucher disease type III
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1655
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A genetic alteration is present in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1656
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Assess the clinical impact of this variant on gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
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Pathogenic; Gaucher disease type I
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1657
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
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Pathogenic; Gaucher disease type II
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1658
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This variant affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Gaucher disease type III
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1659
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The variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
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Pathogenic; Lewy body dementia
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1660
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A variant was discovered on Chromosome 1, affecting GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
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Pathogenic; Parkinson disease, late-onset
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1661
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Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease perinatal lethal
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
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Task1_train_1662
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Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Gaucher disease
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GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
|
GGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCACTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTG
|
Task1_train_1663
|
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Gaucher disease type I
|
TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACT
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TGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTTTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACT
|
Task1_train_1664
|
The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Gaucher disease
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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Task1_train_1665
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A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Gaucher disease type I
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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Task1_train_1666
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Gaucher disease type II
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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Task1_train_1667
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Consider this mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is this a benign change or a disease-causing variant?
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Pathogenic; Gaucher disease type III
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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Task1_train_1668
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A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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GTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCAGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACA
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Task1_train_1669
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A mutation found in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
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Pathogenic; Gaucher disease type I
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AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGA
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AGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGATACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGA
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Task1_train_1670
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Here’s a variant in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
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Pathogenic; Gaucher disease
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TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGC
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TTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCAGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGC
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Task1_train_1671
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A mutation in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
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Pathogenic; Gaucher disease
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1672
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This variant lies on Chromosome 1 and affects the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
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Pathogenic; Parkinson disease, late-onset
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1673
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A variant was discovered in gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
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Pathogenic; Gaucher disease type I
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1674
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A genomic change on Chromosome 1 affects GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). Classify this variant as benign or pathogenic, and name the disease if relevant.
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Pathogenic; See cases
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1675
|
This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Lewy body dementia
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1676
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A sequence alteration has been identified in GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Lewy body dementia
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1677
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This variant affects gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
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Pathogenic; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1678
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Parkinson disease, late-onset
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1679
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
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Pathogenic; Gaucher disease perinatal lethal
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1680
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This alteration occurs within gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
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Pathogenic; Gaucher disease type I
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1681
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Located on Chromosome 1, this mutation impacts GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
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Pathogenic; Gaucher disease type II
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1682
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Gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
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Pathogenic; Gaucher disease type III
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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AGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCATCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCT
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Task1_train_1683
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The gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
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Pathogenic; Gaucher disease
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GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTG
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GAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCTCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTG
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Task1_train_1684
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This variant impacts the gene GBA1, LOC106627981 (glucosylceramidase beta 1| GBA recombination region) on Chromosome 1. Is the change likely to result in a pathogenic outcome?
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Pathogenic; Gaucher disease type I
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ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATC
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ACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACAACACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATC
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Task1_train_1685
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Mutation context: Chromosome 1, Gene PKLR (pyruvate kinase L/R). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
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Pathogenic; Pyruvate kinase deficiency of red cells
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CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
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CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCAGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
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Task1_train_1686
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This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; PKLR-related disorder
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CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
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CCAGGACCCTAAGTCTCCTTTCCTTCTGGGTGGGGAGTTCTGGGGTTCTTGGTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCAGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAA
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Task1_train_1687
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This gene mutation involves PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with any clinical condition, or is it benign?
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Pathogenic; Pyruvate kinase deficiency of red cells
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TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG
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TTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTTGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGG
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Task1_train_1688
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A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; not provided
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ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCA
|
ACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAACAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCA
|
Task1_train_1689
|
This sequence variant lies in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
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Pathogenic; Pyruvate kinase deficiency of red cells
|
CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTT
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CATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACTGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTT
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Task1_train_1690
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This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pyruvate kinase deficiency of red cells
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AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCAC
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AGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTTCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCAC
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Task1_train_1691
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An alteration has been detected in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
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Pathogenic; not provided
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GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAA
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GGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCATTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAA
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Task1_train_1692
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This mutation is located in gene PKLR (pyruvate kinase L/R) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
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Pathogenic; not provided
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AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGG
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AACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGTCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGG
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Task1_train_1693
|
Assess the clinical impact of this variant on gene PKLR (pyruvate kinase L/R), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not provided
|
CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACA
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CCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGTAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACA
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Task1_train_1694
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A variant affecting Chromosome 1, within the gene PKLR (pyruvate kinase L/R), has been observed. Determine if it's benign or associated with disease.
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Pathogenic; Pyruvate kinase deficiency of red cells
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AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTC
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AGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGGCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTC
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Task1_train_1695
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A variant found in Chromosome 1 affects PKLR (pyruvate kinase L/R). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
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Pathogenic; not provided
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CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCA
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CAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCTGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCA
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Task1_train_1696
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This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pyruvate kinase deficiency of red cells
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GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGC
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GTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGTACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGC
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Task1_train_1697
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A sequence alteration has been identified in PKLR (pyruvate kinase L/R) on Chromosome 1. Is it disease-inducing or harmless?
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Pathogenic; Pyruvate kinase deficiency of red cells
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TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGCAGCAGGGGAGGGGAGGCTCTATTAAAACATAAATAAGAGCTTGTCATTCCCCTGCTCAAAACCCTGCAGCAGTTTCTCATTTCACTCGGAGGAAAACGCAACTCAAATTCTAAAAATGGCCTACAAAGCTGCACCTGATCTTCCTGTCCGTACA
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TCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCTGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTCTCCCAAACCCAGAGTTGTGTACCTGACTGCCCCCTCTATCACATTTGGATGGCTAATAAGCATCTCAGACTCAACATGTCCCAAGCAAACTTCTGCTCTCCCCCCAACCCCTTCCACCACAGTCTTTCCTGCTCAGTGGCTAATGCATCGTTCCAGTTCCTTATGGCAAAAACCTCAGAGTCACCTGTCACCTTTGACTCCTTTCTTTCTCGCCCACACTCCATACCCCATATCCGATCAATTAGCAAATCCTGTCAGCTCTACCTGCAAAATACATTCAGAATCTGACCACTTCTCACCACCTCACTGCCGCCAACTGGTCTGAGCCAGAAATACTGCAGGGGCACCCTTCCCCCCACCCCCCATCTATTTTCAGTGCAGCAGCAGGGGAGGGGAGGCTCTATTAAAACATAAATAAGAGCTTGTCATTCCCCTGCTCAAAACCCTGCAGCAGTTTCTCATTTCACTCGGAGGAAAACGCAACTCAAATTCTAAAAATGGCCTACAAAGCTGCACCTGATCTTCCTGTCCGTACA
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Task1_train_1698
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This variant affects the gene PKLR (pyruvate kinase L/R) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
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Pathogenic; Pyruvate kinase hyperactivity
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ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTTTTTTTCTTTTTTTAAAAACAAACAAACAAACAAACAGAGTTTCGCTCTTGTTGCCCAAACTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAATCTCTGTCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCACATTAGCCAGGCTGGTCTCGGACCCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAAGAGCCACCATGCCCGGCCAACTTTCACTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTCTTTCTTTCTTGCCTGCTTGCTTTCTTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTCTCTTTCTCTCTAGGGTCTCGTCTGTCACCTAGGCTGGAGTACAGTGGCTCGATCATGACTCACTGCAGCCGTGACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACTCAACTAAGTTTTGTATTTTTTGTAGAGATGGGTTTTGCCATTTACCCAGACTGGTCTCAAACTCCTGGGCTCAAGCGATCTGCCAACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTTTTTCTCCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCGGCTCACCACAGTCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGCACGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTGGGCCTCCCAACATGCTGCGATTACAGGCATGAGCCACCATGCCCGGCCTCACTTTCTAACGGAATAAATAATTTACTTATTTTAAATAATTTATTGTGCTTACTATTTATTGTCATACTCAGCTAGACTGTCAGCTCCCCAAGGGTAGGGATTTTTGTCTGTTTTTTTCACTGATCTACTCCCAGGGCCCAAAATCTTGTCTACTATATGCTCAACAAATTTTTGTTAAATGAATGACTGTGTCAAACATGGAGAAGTCTCAAAGGAGACAAAAGATGAAGAAGCACCTCAAGAAATACCAATAGGCCCTGTGTGGCTGCAGGGGGATGGGAGTGCTTACCGATGGTGGCAATGATGCTGGTACTGCGAGCAGCCACGGGCTCGGAGTCAATGTCCAGTAGGCAGAGGTGTTCCAGGAAGGTGTCTGCCATAGCAGCTGGCAGCTGCTGCTGCTGGAAGAAGGCAGTGCCCAGCTCCTGGGTCAGTTGGGCCACACTGGCCCGCCGCAGATACCCCGCTGGCCCTGTGGTAGAAGGGGGCTCAGGGACTGCATGTCACCTGCCCTTCCTCCCCATGCCTTCGTCTCTCAGCATACCCTCTGTTCCTTCCCTTCTTATGAGCTGGGCATCATGCATATATTATTTTATTATGTCACAAGGATCCTATAAAGCAGGTACTGTTAAATGTTCTATAATTATCCAATTTTATGGATAAAGAAACAGAGGCTGAGAAACAGGAAATAAATGGTCCAATATTATACAGCTTCTAAGTATGGATCAGCTAGGATTCAAATCTAGGTCTGACTAACTCTAGCCCAAGTTCTTGACCACTCAGTTATACTGACCCCGCACAACCCAGGACCCCCCGACCTGCAGCTACTGATGACCCTCAACCCCACCACCCCTTGATGTCTAGTCCCCAGCAGCCTCACCCTATGCAGACCCAGAATCACCCAGTTCCTGCTCCAAAGGTCTCTGTTTTCTCCCTTCCAACCCCTGGCTACTGGCTGGCTTCCCCACCCCATCCTCTGAGTCTCCCCAGGCTTCTCAAAGCTGCTACAGACACAGAGGTCCCTGTAGCTTGACCCATCCCAGTTCAGAGGAGCCCCCGATTCCAGCCGCACCTTCCATGCCACTGCACACCTCTCTGGGTCTCCCTCTCTGTGGGTCTGCTCCACACTGTTGGGTTGTCAGAGGCATGAGGCCCAGCTGGGCTGGGGATCAGTTCTGCAGACTGGTTAAAGTGTCACCACTGTCTCCTGTTCCATTGGAAGCCCTGTATGCCAGGGGCCAGAGTCCAGGAACCACGGGAGTGCCCCGTGGCTTACATGCTGTGGCTCTGGCCTGCCTATAGGGCCTGGAAAAGACCCAGGCCAGGGTCCATAATTTAACACACGGGAGGCTCTGAAGAACGTACGTTCCTCTCCAAAACCCACCTAGCCAGTGGCTGATGTGGATCATTTATGCCCTCCACCCTGGCTCCTAGTTTTCACCCTCATTTTCCTCCTATGTTCCATGGCTTCTGTCTCCCCTTCTTACCTCCTGGAGCCCCAATCAGGATGGACTTTGCTAAGTCTCTTTGGGACTTAGAGACCCATGACCGAAGCTGCAGGGATGATATGTTCTCCTGGATCGACATGCTTTCAGTGTGGGCCTGGGGCTGCGGGACCATGGAATGAGAGGGAGAGGATGACAAAACTGCTGGTCTTATCTAAGGGAGACAGAGAAGAGAAAAGGGGCACACCCAGTAGGCCACCCTGTCCCCACAGAATCCCTCCCCCAGAACGGCCTGCTCTCTGCCCTCATCTCCTGGCATTTCCTCTCATCCTTTTTTCCTGATAAATTTTCAATCCATTCATACTATCTGGTCATCCACGTGAATAGATATTTTTTTTTTGGCCAGTCATATGGCCCCATTTTCTTTGTACTTTACTGAAGTTAGCTCTAGTGAATCCAGGGAGCAGGGGCTGTAGGGTGGGGCTGGAGCCTGAAGAAAGACAAAAGGGATCACTGTGATAATATGGTGGGGGGAGGGTTACCCAGTTCTGACCACTTTTTTTCTCTGTCTCAACCAAGAAATGCAGAGTGCCTTCACCACTCTGTAACCTGGCCAGCTGCATGTTTTCGCCTACATGTTTGAACCCAAGATGGTACCTTGAACATTCTCAGACACTGATAAACTTGATTAGGTTGTTGCTGGAAACACTGAAAGATCGACTATTTTGCTAAACTTATAGACTCCTACCCCCAGGGAAATTTTCTTTCCTCCCTCCCTTCCTTCCTTTTTTCTTTTTCTTTTTTCTTTTTTTTCTTTTTTTTTTCACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCATTGCAACCTCTGCGATCCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGACGTGCACCACCACACCCAGCTAATTTTGTTTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAC
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ACGGGGTTTCACCATGTTGGCCAGGATGGTATCGATCTCTTGACCTCGTGATCAGTCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAACACCACGCCTGGCCTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGGGTGCAATGGCACGATCTTGGCTCACCGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCGGATAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCTTTTTTTTCTTTTTTTAAAAACAAACAAACAAACAAACAGAGTTTCGCTCTTGTTGCCCAAACTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAATCTCTGTCTCCCGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACATGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAAACAGAGTTTCACCACATTAGCCAGGCTGGTCTCGGACCCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCAAGAGCCACCATGCCCGGCCAACTTTCACTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTCTTTCTTTCTTGCCTGCTTGCTTTCTTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCCTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTCTCTTTCTCTCTAGGGTCTCGTCTGTCACCTAGGCTGGAGTACAGTGGCTCGATCATGACTCACTGCAGCCGTGACCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCACCACCACACTCAACTAAGTTTTGTATTTTTTGTAGAGATGGGTTTTGCCATTTACCCAGACTGGTCTCAAACTCCTGGGCTCAAGCGATCTGCCAACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACTGAGCCCAGCCCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGAGATGGAGTTTTTCTCCTGTTGCCCAGGCTGGAATGCAATGGTGTGATCTCGGCTCACCACAGTCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTGCAGGCACGCACCACCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTGGGCCTCCCAACATGCTGCGATTACAGGCATGAGCCACCATGCCCGGCCTCACTTTCTAACGGAATAAATAATTTACTTATTTTAAATAATTTATTGTGCTTACTATTTATTGTCATACTCAGCTAGACTGTCAGCTCCCCAAGGGTAGGGATTTTTGTCTGTTTTTTTCACTGATCTACTCCCAGGGCCCAAAATCTTGTCTACTATATGCTCAACAAATTTTTGTTAAATGAATGACTGTGTCAAACATGGAGAAGTCTCAAAGGAGACAAAAGATGAAGAAGCACCTCAAGAAATACCAATAGGCCCTGTGTGGCTGCAGGGGGATGGGAGTGCTTACCGATGGTGGCAATGATGCTGGTACTGCGAGCAGCCACGGGCTCGGAGTCAATGTCCAGTAGGCAGAGGTGTTCCAGGAAGGTGTCTGCCATAGCAGCTGGCAGCTGCTGCTGCTGGAAGAAGGCAGTGCCCAGCTCCTGGGTCAGTTGGGCCACACTGGCCCGCCGCAGATACTCCGCTGGCCCTGTGGTAGAAGGGGGCTCAGGGACTGCATGTCACCTGCCCTTCCTCCCCATGCCTTCGTCTCTCAGCATACCCTCTGTTCCTTCCCTTCTTATGAGCTGGGCATCATGCATATATTATTTTATTATGTCACAAGGATCCTATAAAGCAGGTACTGTTAAATGTTCTATAATTATCCAATTTTATGGATAAAGAAACAGAGGCTGAGAAACAGGAAATAAATGGTCCAATATTATACAGCTTCTAAGTATGGATCAGCTAGGATTCAAATCTAGGTCTGACTAACTCTAGCCCAAGTTCTTGACCACTCAGTTATACTGACCCCGCACAACCCAGGACCCCCCGACCTGCAGCTACTGATGACCCTCAACCCCACCACCCCTTGATGTCTAGTCCCCAGCAGCCTCACCCTATGCAGACCCAGAATCACCCAGTTCCTGCTCCAAAGGTCTCTGTTTTCTCCCTTCCAACCCCTGGCTACTGGCTGGCTTCCCCACCCCATCCTCTGAGTCTCCCCAGGCTTCTCAAAGCTGCTACAGACACAGAGGTCCCTGTAGCTTGACCCATCCCAGTTCAGAGGAGCCCCCGATTCCAGCCGCACCTTCCATGCCACTGCACACCTCTCTGGGTCTCCCTCTCTGTGGGTCTGCTCCACACTGTTGGGTTGTCAGAGGCATGAGGCCCAGCTGGGCTGGGGATCAGTTCTGCAGACTGGTTAAAGTGTCACCACTGTCTCCTGTTCCATTGGAAGCCCTGTATGCCAGGGGCCAGAGTCCAGGAACCACGGGAGTGCCCCGTGGCTTACATGCTGTGGCTCTGGCCTGCCTATAGGGCCTGGAAAAGACCCAGGCCAGGGTCCATAATTTAACACACGGGAGGCTCTGAAGAACGTACGTTCCTCTCCAAAACCCACCTAGCCAGTGGCTGATGTGGATCATTTATGCCCTCCACCCTGGCTCCTAGTTTTCACCCTCATTTTCCTCCTATGTTCCATGGCTTCTGTCTCCCCTTCTTACCTCCTGGAGCCCCAATCAGGATGGACTTTGCTAAGTCTCTTTGGGACTTAGAGACCCATGACCGAAGCTGCAGGGATGATATGTTCTCCTGGATCGACATGCTTTCAGTGTGGGCCTGGGGCTGCGGGACCATGGAATGAGAGGGAGAGGATGACAAAACTGCTGGTCTTATCTAAGGGAGACAGAGAAGAGAAAAGGGGCACACCCAGTAGGCCACCCTGTCCCCACAGAATCCCTCCCCCAGAACGGCCTGCTCTCTGCCCTCATCTCCTGGCATTTCCTCTCATCCTTTTTTCCTGATAAATTTTCAATCCATTCATACTATCTGGTCATCCACGTGAATAGATATTTTTTTTTTGGCCAGTCATATGGCCCCATTTTCTTTGTACTTTACTGAAGTTAGCTCTAGTGAATCCAGGGAGCAGGGGCTGTAGGGTGGGGCTGGAGCCTGAAGAAAGACAAAAGGGATCACTGTGATAATATGGTGGGGGGAGGGTTACCCAGTTCTGACCACTTTTTTTCTCTGTCTCAACCAAGAAATGCAGAGTGCCTTCACCACTCTGTAACCTGGCCAGCTGCATGTTTTCGCCTACATGTTTGAACCCAAGATGGTACCTTGAACATTCTCAGACACTGATAAACTTGATTAGGTTGTTGCTGGAAACACTGAAAGATCGACTATTTTGCTAAACTTATAGACTCCTACCCCCAGGGAAATTTTCTTTCCTCCCTCCCTTCCTTCCTTTTTTCTTTTTCTTTTTTCTTTTTTTTCTTTTTTTTTTCACAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCATTGCAACCTCTGCGATCCTCCTGCCTCAGCCTACCGAGTAGCTGGGATTACAGACGTGCACCACCACACCCAGCTAATTTTGTTTTTCTTTTTTCTTTTCTTTTCTTTTTTTTTTTTTTTTTGAGACTGAGTCTGACTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAC
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Task1_train_1699
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Given a variant located on Chromosome 1 and affecting FDPS, RUSC1-AS1 (farnesyl diphosphate synthase| RUSC1 antisense RNA 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
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Pathogenic; Porokeratosis 9, multiple types
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AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAACCTGGGTATGTATCTAGAAGTGGAAAAACAAAAAAAGGAAATAAGTTATGAAAATAAAAACCATGTCTTGAGCTGGGTGCGCTGGTGTGTGCCTATATCCCTAGATTCTCAAGAGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGTCCAACTTGGGCAACATGACAAGACCCTTGTCTCTTTAAAAAAGCAACCCAAACCATGTCTTGAAAAGCTATTTAATGGTCAGACACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACTGAATGAAAATACAAAAATTAGCTGGCCTAGCAGTTGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATTTGGGAGGCGGAGGTTACAGTGAACCCACATGGCGCCACTGCACTCCAGCTTGGGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAGAAAAGCTATTTAAGGAACCAAAACATAGTTTGACTGACTGCAAGAAGTATCACAGGGAATGTTAGAGTGTTTTATTAATTTCTTTGTCAGACAAGTGTTTAGGAAACTCTCACTCCAGGCCTAATGCTGTGCTAGGCTCTGCAAATGCTAAGAGGGGGAAGTTACTGTCCCTGCTTCCAAGGAGATCATGGTCTAGTGGGAAACCCGACACGTTCAGGTACCTTCAGATGGGCACTCAGAAGAGTAAGCCCTTAGTTAATGTTTAAAGATGTTTAAAGATGTCTGAGACTCATAGGTCAAAGTCAGATTTCAGTTCCACCTTATTAGACCTGCACTGCTAAGGAGCTGCTTTAGGTAAGGCTGTGTTCCTAGTCACCAGGGTGTTCAAACACAGTGCTGGGGGCAATGTGGGAATAGCCTTCTTTTATTTAGGAAGTAATGTGAAGTCAGTTTCATGAATAGATCTTACTTTAAGCATTCATTGAGGTTTTTGGCAAGAATAGAGTACGGTATATGAAGGTGTTTCCTAATCTCCCTGACACCAGGAATAATCTAGGGCTCATTAGAGATGTCAAAGATCTGTTCTAGTTTCTTAACCTAAAACAAGAGTGTTTTAGTTCCATTTTATAGGCGGGGAGTCTGAGCCAAACATGTTATGTCACTTTCCAAGTCTCCATAGCACAGAAGTCTTCTGTCTCCCCATCCTGACTTTCCCAGCTCATAGGGACTGTCAAAGGCAGCAGCTCTGGCCGGCTGTGATGCCTCATGCCTGTAATCCCAGTAATTTGGGAGGCTGAGGCAGGAGGATCATTTGAACCCAGGGGTTCAAAACCAGCCTGAGCAACATAGTGGGACCCTGTCTCTACAAAAAATAAATTAAAAAAAAAAAATAGCCAGGCATGGGGTATGTGCCTATGGTCTCAGGAACTCAGGAAGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTTAGAGGCTACAGTGAGCTGTGACTGCACCACTGCACTGGATAATAGTGAGACTCTGTCCCCTACCAAAAAAAAGCAAAACTATATACAGATATAAAGTAGCAGCTCTGTTGCTGATAGAAGGAACAGTAATGAGGAGCCCTGCAGGTCTTATTCCACTCTTTCTAGCTGCAAGCTTTCTTCCTGGTGGCAGATGACATCATGGATTCATCCCTTACCCGCCGGGGACAGATCTGCTGGTATCAGAAGGTAATGTGGGCAGGAAAATAGCAGTGGGTATGGGGACAGGCCACAGGGAGGTGGTTATATATGGCCTGGTTGAGGTGTTGGGGTGATGGCTCTTAGTATGAACCGAGACTAGAGATTGATTGCTTGTTTTTCTGTCTGTCATGACAGCCGGGCGTGGGTTTGGATGCCATCAATGATGCTAACCTCCTGGAAGCATGTATCTACCGCCTGCTGAAGCTCTATTGCCGGGAGCAGCCCTATTACCTGAACCTGATCGAGCTCTTCCTGCAGGTGTATTGCAGACAGGGCCCGATGCCCAGAGGGTGCCCATGGTAGCCTTGGCCTCTATAGGACATGCTCATCTAGCTGGTTTCAGGGTACAGGATTGCAGCGTGCCTGGAAGGGAAAGAAAGCGAGGAAGGGTGTTGGGAAGTGGGGTTGTGGTAGTGGCAAGAAAGGGCTTCTCTGTCCTGTGTAATTGGAAGAAAGGGTGATAAAGGACTGTGTGTATGAATATGGGCCTTAAGTTTTGGGGCTTTCTCCCCTTCTGTTGCCTTTCTGATTCTGCCCAGTTGTCAGCTGGTATGGGATGTTGGGCTTGGGATACCAGGGTTTCGCATATCTGGAGAAAGCCTGGCTCATGGACCGTCTTTGTCTTGCTTAGAGTTCCTATCAGACTGAGATTGGGCAGACCCTGGACCTCCTCACAGCCCCCCAGGGCAATGTGGATCTTGTCAGATTCACTGAAAAGAGGTGAGGGGAGGTGAGGGACAGCGCGAACCATGTCTGGACAGCGAGGGAGGGCTCAGGATGTGCATTGCCCTCCTGAGGAGTTTCTCTTCTCCCCTTACTCAGGTACAAATCTATTGTCAAGTACAAGACAGCTTTCTACTCCTTCTACCTTCCTATAGCTGCAGCCATGTACATGGTGAGTGAGCCTCCTCACCCCTCTCTGCTCTGCTGATGGGGGCTTTTGGACAGCAAGGCATAGAGCAGAAAACGTGAACACTGCTACCCCTGGTGAAAAACTGTGTGACCTTGAGCAAGTCGGTCTCGCTCAGTCTCTTTCCTCAGCTGGGGATAAAATTCCTACTTCACAGGACTGTAAAGATTAAGCAAGGCAAGGGATATGAAAGTGCTTAGCACATAATAGGGGAACAATATATCCTGTATCTGAGTATGGATAGGAGTGTGGAGATCATCCAGGTTGAGAGGGAGAAGAGTGGATTAAAGACAGTCAGTGGGATTAAGTGTCTACCCTGACCTTGCTTCTCTACATTTCCTTTTCATCTTGAAAGAAGTTGGAGGTGGCAAAAATATTAGGAAGGTGGATCAGAATGACTTGGGGACTGACATTTGTGAGGGAAGAGACAGGCTGTGCACCTCTAGAATGGATTCATCTCTTTTATGACTCCCAGGAAGGCCTAGCCAAAAATAAGTGGGATTGAGGTTGGACCATCAGTCAGGACTGTCTAGGTCAGGGAAGCCAAGATGTCTGAAGAGAGAGGAAAGATTTGGGGCTGCAGTAGGGCAAGACCCCATGGGAGGAAGCAGCCAGGAAGATGCCGGCACCCCTGGGGTTTGGCTTATTAACCCCCCTTTCCCTGCAGGCAGGAATTGATGGCGAGAAGGAGCACGCCAATGCCAAGAAGATCCTGCTGGAGATGGGGGAGTTCTTTCAGATTCAGGTAAGAAGGCAGGAGGCAGTAGCAGAGAACAGGCACCAGCTTCACTCCTCCTCTGCCCAGGAACCTCATCCTTCCTCTTTTGCTGCCCTCCCCCTCCCTGCCCAGGATGATTACCTTGACCTCTTTGGGGACCCCAGTGTGACCGGCAAAATTGGCACTGACATCCAGGACAACAAATGCAGCTGGCTGGTGGTTCAGTGTCTGCAACGGGCCACTCCAGAACAGTACCAGATCCTGAAGGTGCCTGAGAGAGGGTGGTGGGTCCCTGAGTTGGTGGAAAGGGATAGAGCAGTGGTTCTCAACTAGAGGCAGTTTTCCTCCCGAGGGGACATTTGGCAATGTCAGCAGACATTTT
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AATAAAAATTAAAACCTGGGTATAGGGCCGGGTGCATTGGCTCACACTTAAAATCCCAGCACTTTGGGAGGCCAAGGTGGATGGATCACGTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCTTGTCTCTACTAAAAACACAAAAATTAGCCGGGTGTGATGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCGTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGACAATGAGAGTGAAACTCCATCTCAAAAACAAAAACCTGGGTATGTATCTAGAAGTGGAAAAACAAAAAAAGGAAATAAGTTATGAAAATAAAAACCATGTCTTGAGCTGGGTGCGCTGGTGTGTGCCTATATCCCTAGATTCTCAAGAGTTGAGACAGGAGGATCACTTGAGCCCAGGAGTTCAAGTCCAACTTGGGCAACATGACAAGACCCTTGTCTCTTTAAAAAAGCAACCCAAACCATGTCTTGAAAAGCTATTTAATGGTCAGACACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCAGTCTCTACTGAATGAAAATACAAAAATTAGCTGGCCTAGCAGTTGGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAATTTGGGAGGCGGAGGTTACAGTGAACCCACATGGCGCCACTGCACTCCAGCTTGGGTGATAGAGTGAGACTCTATCTCAAAAAAAAAAAAAAAGAAAAGCTATTTAAGGAACCAAAACATAGTTTGACTGACTGCAAGAAGTATCACAGGGAATGTTAGAGTGTTTTATTAATTTCTTTGTCAGACAAGTGTTTAGGAAACTCTCACTCCAGGCCTAATGCTGTGCTAGGCTCTGCAAATGCTAAGAGGGGGAAGTTACTGTCCCTGCTTCCAAGGAGATCATGGTCTAGTGGGAAACCCGACACGTTCAGGTACCTTCAGATGGGCACTCAGAAGAGTAAGCCCTTAGTTAATGTTTAAAGATGTTTAAAGATGTCTGAGACTCATAGGTCAAAGTCAGATTTCAGTTCCACCTTATTAGACCTGCACTGCTAAGGAGCTGCTTTAGGTAAGGCTGTGTTCCTAGTCACCAGGGTGTTCAAACACAGTGCTGGGGGCAATGTGGGAATAGCCTTCTTTTATTTAGGAAGTAATGTGAAGTCAGTTTCATGAATAGATCTTACTTTAAGCATTCATTGAGGTTTTTGGCAAGAATAGAGTACGGTATATGAAGGTGTTTCCTAATCTCCCTGACACCAGGAATAATCTAGGGCTCATTAGAGATGTCAAAGATCTGTTCTAGTTTCTTAACCTAAAACAAGAGTGTTTTAGTTCCATTTTATAGGCGGGGAGTCTGAGCCAAACATGTTATGTCACTTTCCAAGTCTCCATAGCACAGAAGTCTTCTGTCTCCCCATCCTGACTTTCCCAGCTCATAGGGACTGTCAAAGGCAGCAGCTCTGGCCGGCTGTGATGCCTCATGCCTGTAATCCCAGTAATTTGGGAGGCTGAGGCAGGAGGATCATTTGAACCCAGGGGTTCAAAACCAGCCTGAGCAACATAGTGGGACCCTGTCTCTACAAAAAATAAATTAAAAAAAAAAAATAGCCAGGCATGGGGTATGTGCCTATGGTCTCAGGAACTCAGGAAGCTGAAGTGGGAGGATCACTTGAGCCTGGGAGTTAGAGGCTACAGTGAGCTGTGACTGCACCACTGCACTGGATAATAGTGAGACTCTGTCCCCTACCAAAAAAAAGCAAAACTATATACAGATATAAAGTAGCAGCTCTGTTGCTGATAGAAGGAACAGTAATGAGGAGCCCTGCAGGTCTTATTCCACTCTTTCTAGCTGCAAGCTTTCTTCCTGGTGGCAGATGACATCATGGATTCATCCCTTACCCGCCAGGGACAGATCTGCTGGTATCAGAAGGTAATGTGGGCAGGAAAATAGCAGTGGGTATGGGGACAGGCCACAGGGAGGTGGTTATATATGGCCTGGTTGAGGTGTTGGGGTGATGGCTCTTAGTATGAACCGAGACTAGAGATTGATTGCTTGTTTTTCTGTCTGTCATGACAGCCGGGCGTGGGTTTGGATGCCATCAATGATGCTAACCTCCTGGAAGCATGTATCTACCGCCTGCTGAAGCTCTATTGCCGGGAGCAGCCCTATTACCTGAACCTGATCGAGCTCTTCCTGCAGGTGTATTGCAGACAGGGCCCGATGCCCAGAGGGTGCCCATGGTAGCCTTGGCCTCTATAGGACATGCTCATCTAGCTGGTTTCAGGGTACAGGATTGCAGCGTGCCTGGAAGGGAAAGAAAGCGAGGAAGGGTGTTGGGAAGTGGGGTTGTGGTAGTGGCAAGAAAGGGCTTCTCTGTCCTGTGTAATTGGAAGAAAGGGTGATAAAGGACTGTGTGTATGAATATGGGCCTTAAGTTTTGGGGCTTTCTCCCCTTCTGTTGCCTTTCTGATTCTGCCCAGTTGTCAGCTGGTATGGGATGTTGGGCTTGGGATACCAGGGTTTCGCATATCTGGAGAAAGCCTGGCTCATGGACCGTCTTTGTCTTGCTTAGAGTTCCTATCAGACTGAGATTGGGCAGACCCTGGACCTCCTCACAGCCCCCCAGGGCAATGTGGATCTTGTCAGATTCACTGAAAAGAGGTGAGGGGAGGTGAGGGACAGCGCGAACCATGTCTGGACAGCGAGGGAGGGCTCAGGATGTGCATTGCCCTCCTGAGGAGTTTCTCTTCTCCCCTTACTCAGGTACAAATCTATTGTCAAGTACAAGACAGCTTTCTACTCCTTCTACCTTCCTATAGCTGCAGCCATGTACATGGTGAGTGAGCCTCCTCACCCCTCTCTGCTCTGCTGATGGGGGCTTTTGGACAGCAAGGCATAGAGCAGAAAACGTGAACACTGCTACCCCTGGTGAAAAACTGTGTGACCTTGAGCAAGTCGGTCTCGCTCAGTCTCTTTCCTCAGCTGGGGATAAAATTCCTACTTCACAGGACTGTAAAGATTAAGCAAGGCAAGGGATATGAAAGTGCTTAGCACATAATAGGGGAACAATATATCCTGTATCTGAGTATGGATAGGAGTGTGGAGATCATCCAGGTTGAGAGGGAGAAGAGTGGATTAAAGACAGTCAGTGGGATTAAGTGTCTACCCTGACCTTGCTTCTCTACATTTCCTTTTCATCTTGAAAGAAGTTGGAGGTGGCAAAAATATTAGGAAGGTGGATCAGAATGACTTGGGGACTGACATTTGTGAGGGAAGAGACAGGCTGTGCACCTCTAGAATGGATTCATCTCTTTTATGACTCCCAGGAAGGCCTAGCCAAAAATAAGTGGGATTGAGGTTGGACCATCAGTCAGGACTGTCTAGGTCAGGGAAGCCAAGATGTCTGAAGAGAGAGGAAAGATTTGGGGCTGCAGTAGGGCAAGACCCCATGGGAGGAAGCAGCCAGGAAGATGCCGGCACCCCTGGGGTTTGGCTTATTAACCCCCCTTTCCCTGCAGGCAGGAATTGATGGCGAGAAGGAGCACGCCAATGCCAAGAAGATCCTGCTGGAGATGGGGGAGTTCTTTCAGATTCAGGTAAGAAGGCAGGAGGCAGTAGCAGAGAACAGGCACCAGCTTCACTCCTCCTCTGCCCAGGAACCTCATCCTTCCTCTTTTGCTGCCCTCCCCCTCCCTGCCCAGGATGATTACCTTGACCTCTTTGGGGACCCCAGTGTGACCGGCAAAATTGGCACTGACATCCAGGACAACAAATGCAGCTGGCTGGTGGTTCAGTGTCTGCAACGGGCCACTCCAGAACAGTACCAGATCCTGAAGGTGCCTGAGAGAGGGTGGTGGGTCCCTGAGTTGGTGGAAAGGGATAGAGCAGTGGTTCTCAACTAGAGGCAGTTTTCCTCCCGAGGGGACATTTGGCAATGTCAGCAGACATTTT
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Subsets and Splits
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